Aneurysm Type Official Symbol Gene ID Description Data Source More Info Clinical Subcellular Location Species Abdominal aortic aneurysm ABCA1 19 rs2230806 PMID: 26774504 Membrane ; Multi-pass membrane protein. human Abdominal aortic aneurysm ABCC6 368 "rs72653779, NM_001171.5:c.1964A-G, NP_001162.4:p.Q655R" PMID: 16127278 Isoform 1: Basolateral cell membrane ; Multi-pass membrane protein. Isoform 2: Endoplasmic reticulum membrane ; Single-pass membrane protein. human Abdominal aortic aneurysm ACE 1636 aneurysm tissue: increase in protein level| 287bp I/D polymorphysm PMID: 20302034| PMID: 17920311| PMID: 12484503| PMID: 27533781| PMID: 23587545| PMID: 11352521 in European population| in normotensive patients "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Abdominal aortic aneurysm ADAM17 6868 rs12692386| aortic tissue: increase in protein level PMID: 24853957| PMID: 21722904 sporadic aneurysm AG genotype with higher risk of aneurysm Membrane; Single-pass type I membrane protein. human Abdominal aortic aneurysm AGTR1 185 1166A>C| rs12695895| rs5182 PMID: 20302034| PMID: 18239157| PMID: 27533781| PMID: 26027897 "gene-gene interactions (AGTR1 rs5182,+TGFBR1 rs1626340+TGFB1 rs1800469)" Cell membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm AHCY 191 rs819146 PMID: 18635682 protective Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. human Abdominal aortic aneurysm ALOX5 240 aneurysm wall: increase in RNA level PMID: 21078989 "Cytoplasm. Nucleus matrix. Nucleus membrane; Peripheral membrane protein. Note=Shuttles between cytoplasm and nucleus. Found exclusively in the nucleus, when phosphorylated on Ser-272. Calcium binding promotes translocation from the cytosol and the nuclear matrix to the nuclear envelope and membrane association." human Abdominal aortic aneurysm ALOX5AP 241 aneurysm wall: increase in RNA level PMID: 21078989 Nucleus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm ANGPT2 285 serum: increase in protein level PMID: 22483260 in old men Secreted. human Abdominal aortic aneurysm ANXA2 302 wall of atherosclerotic AAAs: increase in protein level PMID: 18502476 "Secreted, extracellular space, extracellular matrix, basement membrane. Melanosome. Note=In the lamina beneath the plasma membrane. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Translocated from the cytoplasm to the cell surface through a Golgi-independent mechanism." human Abdominal aortic aneurysm APOA1 335 plasma: decrease in protein level PMID: 19932694| PMID: 25789510 no healthy control in this test progress and prognosis (size of aneurysm) Secreted. human Abdominal aortic aneurysm APOB 338 plasma: decrease in protein level PMID: 19932694 Cytoplasm. Secreted. human Abdominal aortic aneurysm APOM 55937 plasma: decrease in protein level PMID: 19932694 Secreted. Note=Present in high density lipoprotein (HDL) and to a lesser extent in triglyceride-rich lipoproteins (TGRLP) and low density lipoproteins (LDL). human Abdominal aortic aneurysm BMP4 652 rs2071047 PMID: 22055160 in NOPOP population "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm CA1 759 aneurysmal wall: increase in RNA level PMID: 23557951 Cytoplasm. human Abdominal aortic aneurysm CARD8 22900 rs2043211 PMID: 21621776 Cytoplasm. Nucleus. human Abdominal aortic aneurysm CASP1 834 aneurysm tissue: increase in RNA level PMID: 24618883 Cytoplasm. human Abdominal aortic aneurysm CCL2 6347 aneurysm tissue: increase in protein level PMID: 25033895 Secreted. human Abdominal aortic aneurysm CCL22 6367 aneurysm tissue/serum: increase in protein level PMID: 20348247 Secreted. human Abdominal aortic aneurysm CCR2 729230 V64I PMID: 21220372 "Cell membrane ; Multi-pass membrane protein. Note=The chemoattractant receptors are distributed throughout the cell surface; after stimulation with a ligand, such as CCL2, they are rapidly recruited into microdomain clusters at the cell membrane.." human Abdominal aortic aneurysm CCR5 1234 del32 PMID: 21258050| PMID: 15557916 Cell membrane ; Multi-pass membrane protein. human Abdominal aortic aneurysm CD22 933 rs2267574| rs756796 PMID: 21247474 Cell membrane; Single-pass type I membrane protein. human Abdominal aortic aneurysm CDKN2B 1030 decrease in RNA level PMID: 23162013 Cytoplasm. Note=Also found in the nucleus. human Abdominal aortic aneurysm CDKN2B-AS1 100048912 rs2383207| rs4977574| rs10116277 PMID: 20622881| PMID: 24046328 in EUR population human Abdominal aortic aneurysm CHRNA4 1137 rs56175076 PMID: 26952864 "Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cell membrane ; Lipid-anchor." human Abdominal aortic aneurysm CIDEA 1149 lymphocytes/adipose tissue cells: decrease in RNA level PMID: 25720106 "Lipid droplet. Nucleus. Note=Enriched at lipid droplet contact sites. Has been shown to localize to mitonchondria, where it could interact with UCP1 and hence inhibit UCP1 uncoupling activity (By similarity). These data could not be confirmed (PubMed:18509062).." human Abdominal aortic aneurysm CIRBP 1153 sera/aneurysm tissue: increase in RNA level PMID: 26936526 potential target of therapy "Nucleus, nucleoplasm. Cytoplasm. Note=Translocates from the nucleus to the cytoplasm after exposure to UV radiation. Translocates from the nucleus to the cytoplasm into stress granules upon various cytoplasmic stresses, such as osmotic and heat shocks. Its recruitment into stress granules occurs in the absence of TIAR proteins (By similarity).." human Abdominal aortic aneurysm CLU 1191 serum: decrease in protein level PMID: 21899841 "Isoform 1: Secreted. Note=Can retrotranslocate from the secretory compartments to the cytosol upon cellular stress. Nucleus. Cytoplasm. Mitochondrion membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol. Microsome. Endoplasmic reticulum. Cytoplasmic vesicle, secretory vesicle, chromaffin granule. Note=Isoforms lacking the N-terminal signal sequence have been shown to be cytoplasmic and/or nuclear. Secreted isoforms can retrotranslocate from the secretory compartments to the cytosol upon cellular stress. Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins. Detected at the mitochondrion membrane upon induction of apoptosis." human Abdominal aortic aneurysm CNTN3 5067 rs7635818 PMID: 21146954 this variant (rs763518) located on a region near CNTN3 gene (upstream to CNTN3); the result can't be repeated in another two researches "Cell membrane ; Lipid-anchor, GPI-anchor." human Abdominal aortic aneurysm COL11A1 1301 NM_080629.2:c.781-450T>G ClinVar: 155897 sporadic aneurysm pathogenic "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm COL1A1 1277 vascular smooth muscle cells: increase in protein level| aortic wall: increase in RNA level PMID: 23746831| PMID: 22269326 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm COL3A1 1281 "NM_170707.3:c.1621C-T, NP_000081.1:p.R491*| p.Arg491X| aortic wall: increase in RNA level" PMID: 26017485| PMID: 22269326 familial aneurysm "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm COL5A1 1289 aortic wall: increase in RNA level PMID: 22269326 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm CRP 1401 plasma: increase in RNA level| serum: increase in protein level| rs3091244 PMID: 20810407| PMID: 18829218| PMID: 24135623 prognosis and progress| T/A with higher risk of aneurysm Secreted. human Abdominal aortic aneurysm CST3 1471 aortic lesions: decrease in protein level PMID: 10545518 Secreted. human Abdominal aortic aneurysm CTGF 1490 aneurysmal wall: increase in RNA level PMID: 15956925 inflammatory abdominal aortic aneurysms and atherosclerotic abdominal aortic aneurysms "Secreted, extracellular space, extracellular matrix. Secreted." human Abdominal aortic aneurysm CTSK 1513 aneurysm tissue: increase in protein level PMID: 15982660 Lysosome. human Abdominal aortic aneurysm CTSL 1514 plasma: increase in protein level PMID: 23958260 Lysosome. human Abdominal aortic aneurysm CTSS 1520 serum: increase in protein level| plasma: increase in protein level PMID: 23742758| PMID: 22844527 progress and prognosis| progress and prognosis (diameter of aneurysm) Lysosome. human Abdominal aortic aneurysm CX3CR1 1524 aneurysm tissue: increase in protein level PMID: 18296082 Cell membrane ; Multi-pass membrane protein. human Abdominal aortic aneurysm CXCL12 6387 rs1801157 PMID: 25800732 progress and prognosis (size but not incidence of aneurysm) Secreted. human Abdominal aortic aneurysm CXCR4 7852 aneurysm tissue: increase in protein level| increase in RNA level PMID: 26346005 "Cell membrane; Multi-pass membrane protein. Cell junction. Early endosome. Late endosome. Lysosome. Note=In unstimulated cells, diffuse pattern on plasma membrane. On agonist stimulation, colocalizes with ITCH at the plasma membrane where it becomes ubiquitinated. In the presence of antigen, distributes to the immunological synapse forming at the T-cell-APC contact area, where it localizes at the peripheral and distal supramolecular activation cluster (SMAC)." human Abdominal aortic aneurysm DAB2IP 153090 rs7025486| NM_138709 PMID: 20622881 in EUR population "Cytoplasm. Cell membrane ; Peripheral membrane protein. Membrane. Cell projection, dendrite. Note=Localized in soma and dendrites of Purkinje cells as well as in scattered cell bodies in the molecular layer of the cerebellum (By similarity). Colocalizes with TIRAP at the plasma membrane. Colocalizes with ARF6 at the plasma membrane and endocytic vesicles. Translocates from the plasma membrane to the cytoplasm in response to TNF-alpha. Phosphatidylinositol 4-phosphate (PtdIns4P) binding is essential for plasma membrane localization.." human Abdominal aortic aneurysm DNM3 26052 rs4916251 PMID: 23246012 in NOPOP population "Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated.." human Abdominal aortic aneurysm DPP4 1803 increase in protein level PMID: 27887857 "Dipeptidyl peptidase 4 soluble form: Secreted. Note=Detected in the serum and the seminal fluid. Cell membrane ; Single-pass type II membrane protein. Apical cell membrane ; Single-pass type II membrane protein. Cell projection, invadopodium membrane ; Single-pass type II membrane protein. Cell projection, lamellipodium membrane ; Single-pass type II membrane protein. Cell junction. Membrane raft. Note=Translocated to the apical membrane through the concerted action of N- and O-Glycans and its association with lipid microdomains containing cholesterol and sphingolipids (PubMed:11773049). Redistributed to membrane rafts in T-cell in a interleukin-12-dependent activation (PubMed:12676959). Its interaction with CAV1 is necessary for its translocation to membrane rafts (PubMed:17287217). Colocalized with PTPRC in membrane rafts (PubMed:12676959). Colocalized with FAP in invadopodia and lamellipodia of migratory activated endothelial cells in collagenous matrix. Colocalized with FAP on endothelial cells of capillary-like microvessels but not large vessels within invasive breast ductal carcinoma (PubMed:16651416). Colocalized with ADA at the cell junction in lymphocyte-epithelial cell adhesion (PubMed:11772392). Colocalized with IGF2R in internalized cytoplasmic vesicles adjacent to the cell surface (PubMed:10900005).." human Abdominal aortic aneurysm ELN 2006 nt+422| aortic wall: increase in RNA level PMID: 15944607| PMID: 22269326 "Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.." human Abdominal aortic aneurysm ESR2 2100 ERβ 1730(A-G) polymorphism (AluI a allele) PMID: 15698546 AluI restriction site is statistically associated to AAA onset Nucleus. human Abdominal aortic aneurysm F13B 2165 His95Arg PMID: 25384012 Secreted. human Abdominal aortic aneurysm FBLN5 10516 aorta: decrease in RNA level PMID: 27692634 "Secreted. Secreted, extracellular space, extracellular matrix. Note=co-localizes with ELN in elastic fibers.." human Abdominal aortic aneurysm FBN1 2200 "rs193922233, NM_005902.3:c.335C-T, NP_000129.3:p.P2471R| NM_003242.5:c.1379G-A, NP_000129.3:p.Y754H| CNV EX66 del" PMID: 26017485| PMID: 22310065 "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm FCGR2B 2213 increase in protein level| increase in RNA level PMID: 28223220 Cell membrane; Single-pass type I membrane protein. human Abdominal aortic aneurysm FCN3 8547 plasma: increase in protein level PMID: 28039962 "Secreted. Note=Found in blood plasma, bronchus, alveolus and bile duct." human Abdominal aortic aneurysm FOLH1 219595 rs202680 PMID: 18635682 Cell membrane ; Single-pass type II membrane protein. Isoform PSMA': Cytoplasm. human Abdominal aortic aneurysm FTL 2512 NM_000146.3:c.169G>A (p.Glu57Lys)| NM_000146.3:c.163T>C (p.Leu55=) ClinVar: 156439| ClinVar: 156440 sporadic aneurysm conflicting interpretations of pathogenicity human Abdominal aortic aneurysm GPC6 10082 rs9301909| rs9524249| rs1411513| rs2892667| rs9524264 PMID: 24046328 in EUR population "Cell membrane ; Lipid-anchor, GPI-anchor ; Extracellular side. Secreted glypican-6: Secreted, extracellular space." human Abdominal aortic aneurysm GYS1 2997 NM_000146.3:c.163T>C (p.Leu55=) ClinVar: 156440 sporadic aneurysm conflicting interpretations of pathogenicity human Abdominal aortic aneurysm GZMB 3002 aneurysm tissue: increase in protein level PMID: 20035050 Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer cells. human Abdominal aortic aneurysm HBB 3043 aneurysm tissue: decrease in protein level PMID: 24599423 human Abdominal aortic aneurysm HEY2 23493 aortic wall: decrease in protein level| decrease in RNA level| aneurysm tissue: decrease in RNA level PMID: 24768363| PMID: 22310065 Nucleus. human Abdominal aortic aneurysm HIF1A 3091 c.1772C>T PMID: 24657063| PMID: 23421024 "gene-environment interaction, environment factors inculde smoking" at higher risk of aneurysm when have HIF1A 1772T or 1772CC-1790GG haplotype or 634GG homozygote "Cytoplasm. Nucleus. Nucleus speckle. Note=Colocalizes with HIF3A in the nucleus and speckles (By similarity). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia (PubMed:9822602).." human Abdominal aortic aneurysm HLA-A 3105 A-2 allele PMID: 12917841 Membrane; Single-pass type I membrane protein. human Abdominal aortic aneurysm HLA-B 3106 B-61 allele PMID: 12917841 Membrane; Single-pass type I membrane protein. human Abdominal aortic aneurysm HLA-DQA1 3117 HLA-DQA1*0102 allele| haplotype: HLA-DQA1-DRB1 PMID: 17182961| PMID: 16879749 in Belgian population| in Belgian males| weak (border significant) "Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation." human Abdominal aortic aneurysm HLA-DRB1 3123 "B1*0401 allele| B1*02, B1*04 allele" PMID: 12917840| PMID: 11436079 "Cell membrane ; Single-pass type I membrane protein. Endoplasmic reticulum membrane ; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane ; Single-pass type I membrane protein. Endosome membrane ; Single-pass type I membrane protein. Lysosome membrane ; Single-pass type I membrane protein. Late endosome membrane ; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation." human Abdominal aortic aneurysm HMGB1 3146 serum: increase in RNA level PMID: 27908811 "Nucleus. Chromosome. Cytoplasm. Secreted. Cell membrane ; Peripheral membrane protein ; Extracellular side. Endosome. Endoplasmic reticulum-Golgi intermediate compartment. Note=In basal state predominantly nuclear. Shuttles between the cytoplasm and the nucleus (PubMed:12231511, PubMed:17114460). Translocates from the nucleus to the cytoplasm upon autophagy stimulation (PubMed:20819940). Release from macrophages in the extracellular milieu requires the activation of NLRC4 or NLRP3 inflammasomes (By similarity). Passively released to the extracellular milieu from necrotic cells by diffusion, involving the fully reduced HGMB1 which subsequently gets oxidized (PubMed:19811284). Also released from apoptotic cells (PubMed:16855214, PubMed:18631454). Active secretion from a variety of immune and non-immune cells such as macrophages, monocytes, neutrophils, dendritic cells and natural killer cells in response to various stimuli such as LPS and cytokines involves a nonconventional secretory process via secretory lysosomes (PubMed:12231511, PubMed:14532127, PubMed:15944249). Secreted by plasma cells in response to LPS (By similarity). Found on the surface of activated platelets (PubMed:11154118). An increased chromatin association is observed when associated with the adenovirus protein pVII (PubMed:27362237).." human Abdominal aortic aneurysm HMOX1 3162 n(GT) PMID: 12182912 may protective when n(GT)<25 Microsome. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side. human Abdominal aortic aneurysm HOXA4 3201 abdominal aortas: decrease in protein level| decrease in RNA level PMID: 21627813 Nucleus. human Abdominal aortic aneurysm HP 3240 plasma: increase in protein level PMID: 21296538 Secreted. human Abdominal aortic aneurysm HPSE 10855 aneurysm tissue: increase in protein level PMID: 12509917 "Lysosome membrane; Peripheral membrane protein. Secreted. Nucleus. Note=Proheparanase is secreted via vesicles of the Golgi. Interacts with cell membrane heparan sulfate proteoglycans (HSPGs). Endocytosed and accumulates in endosomes. Transferred to lysosomes where it is proteolytically cleaved to produce the active enzyme. Under certain stimuli, transferred to the cell surface. Associates with lipid rafts. Colocalizes with SDC1 in endosomal/lysosomal vesicles. Accumulates in perinuclear lysosomal vesicles. Heparin retains proheparanase in the extracellular medium (By similarity).." human Abdominal aortic aneurysm IGF1 3479 plasma: increase in protein level PMID: 22113073 in old men increased ratio of IGF1/IGFBP3 correlates with AAA Secreted. human Abdominal aortic aneurysm IGFBP1 3484 plasma: increase in protein level PMID: 22325929 Secreted. human Abdominal aortic aneurysm IL10 3586 plasma: increase in RNA level|-1082A| rs1800896 PMID: 20810407| PMID: 20302034| PMID: 12756345| PMID: 26782404| PMID: 17903648 prognosis and progress Secreted. human Abdominal aortic aneurysm IL17A 3605 aortic tissue: increase in protein level| increase in RNA level PMID: 22965992 Secreted. human Abdominal aortic aneurysm IL1B 3553 aneurysm tissue: increase in RNA level PMID: 24618883 "Cytoplasm, cytosol. Lysosome. Secreted, exosome. Secreted. Note=The precursor is cytosolic. In response to inflammasome-activating signals, such as ATP for NLRP3 inflammasome or bacterial flagellin for NLRC4 inflammasome, cleaved and secreted. IL1B lacks any known signal sequence and the pathway(s) of its secretion is(are) not yet fully understood (PubMed:24201029). On the basis of experimental results, several unconventional secretion mechanisms have been proposed. 1. Secretion via secretory lysosomes: a fraction of CASP1 and IL1B precursor may be incorporated, by a yet undefined mechanism, into secretory lysosomes that undergo Ca(2+)-dependent exocytosis with release of mature IL1B (PubMed:15192144). 2. Secretory autophagy: IL1B-containing autophagosomes may fuse with endosomes or multivesicular bodies (MVBs) and then merge with the plasma membrane releasing soluble IL1B or IL1B-containing exosomes (PubMed:24201029). However, autophagy impacts IL1B production at several levels and its role in secretion is still controversial. 3. Secretion via exosomes: ATP-activation of P2RX7 leads to the formation of MVBs containing exosomes with entrapped IL1B, CASP1 and other inflammasome components. These MVBs undergo exocytosis with the release of exosomes. The release of soluble IL1B occurs after the lysis of exosome membranes (By similarity). 4. Secretion by microvesicle shedding: activation of the ATP receptor P2RX7 may induce an immediate shedding of membrane-derived microvesicles containing IL1B and possibly inflammasome components. The cytokine is then released in the extracellular compartment after microvesicle lysis (PubMed:11728343). 5. Release by translocation through permeabilized plasma membrane. This may occur in cells undergoing pyroptosis due to sustained activation of the inflammasome (By similarity). These mechanisms may not be not mutually exclusive.." human Abdominal aortic aneurysm IL1F10 84639 rs1542176| rs6743376 PMID: 25726324 Secreted. human Abdominal aortic aneurysm IL23A 51561 aortic tissue: increase in protein level| increase in RNA level PMID: 22965992 Secreted. Note=Secreted upon association with IL12B. human Abdominal aortic aneurysm IL3 3562 vascular smooth muscle cells: increase in protein level PMID: 23746831 Secreted. human Abdominal aortic aneurysm IL6 3569 572G>C | aorta: increase in protein level| -174 G>C PMID: 17996468| PMID: 17182950| PMID: 11342474 Secreted. human Abdominal aortic aneurysm IL6R 3570 rs2228145| rs7514452| rs4240872 PMID: 23593036| PMID: 24046328 in EUR population Isoform 1: Basolateral cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. human Abdominal aortic aneurysm ITGA5 3678 aortic tissue: decrease in RNA level PMID: 15100006 "Membrane; Single-pass type I membrane protein. Cell junction, focal adhesion. Cell surface." human Abdominal aortic aneurysm ITGB1 3688 aortic tissue: decrease in RNA level PMID: 15100006 "Cell membrane ; Single-pass type I membrane protein. Cell projection, invadopodium membrane ; Single-pass type I membrane protein. Cell projection, ruffle membrane ; Single-pass type I membrane protein. Recycling endosome. Melanosome. Cleavage furrow. Cell projection, lamellipodium. Cell projection, ruffle. Cell junction, focal adhesion. Cell surface. Note=Isoform 2 does not localize to focal adhesions. Highly enriched in stage I melanosomes. Located on plasma membrane of neuroblastoma NMB7 cells. In a lung cancer cell line, in prometaphase and metaphase, localizes diffusely at the membrane and in a few intracellular vesicles. In early telophase, detected mainly on the matrix-facing side of the cells. By mid-telophase, concentrated to the ingressing cleavage furrow, mainly to the basal side of the furrow. In late telophase, concentrated to the extending protrusions formed at the opposite ends of the spreading daughter cells, in vesicles at the base of the lamellipodia formed by the separating daughter cells. Colocalizes with ITGB1BP1 and metastatic suppressor protein NME2 at the edge or peripheral ruffles and lamellipodia during the early stages of cell spreading on fibronectin or collagen. Translocates from peripheral focal adhesions sites to fibrillar adhesions in a ITGB1BP1-dependent manner. Enriched preferentially at invadopodia, cell membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. Localized at plasma and ruffle membranes in a collagen-independent manner.. Isoform 5: Cell membrane, sarcolemma. Cell junction. Note=In cardiac muscle, isoform 5 is found in costameres and intercalated disks.." human Abdominal aortic aneurysm KCNIP3 30818 rs4854251| rs10874471 PMID: 24046328 in EUR population "Cytoplasm. Cell membrane ; Lipid-anchor. Endoplasmic reticulum. Golgi apparatus. Nucleus. Note=Also membrane-bound, associated with the plasma membrane (PubMed:15485870). In the presence of PSEN2 associated with the endoplasmic reticulum and Golgi. The sumoylated form is present only in the nucleus.." human Abdominal aortic aneurysm KLF4 9314 increase in RNA level PMID: 24030402 Nucleus. human Abdominal aortic aneurysm KLK1 3816 rs5516 PMID: 21571276 correlate with big aneurysms but not small aneurysms human Abdominal aortic aneurysm KLKB1 3818 plasma: increase in RNA level PMID: 27581227 possible biomarker for aneurysm growth and the evolution of thrombus Secreted. human Abdominal aortic aneurysm LCN2 3934 aneurysm tissue: increase in protein level| increase in RNA level| plasma: increase in protein level PMID: 23988549| PMID: 22169111 the release of PMN correlates with the progress of AAA "Secreted. Note=Upon binding to the SLC22A17 (24p3R) receptor, it is internalized." human Abdominal aortic aneurysm LDLR 3949 rs6511720| rs2228671 PMID: 24046328 in EUR population "Cell membrane ; Single-pass type I membrane protein. Membrane, clathrin-coated pit. Golgi apparatus. Early endosome. Late endosome. Lysosome. Note=Rapidly endocytosed upon ligand binding.." human Abdominal aortic aneurysm LEP 3952 aneurysm wall: increase in RNA level PMID: 23220275 Secreted. human Abdominal aortic aneurysm LGALS3 3958 plasma: increase in protein level| plasma: increase in RNA level PMID: 28982723 Cytoplasm. Nucleus. Secreted. Note=Secreted by a non-classical secretory pathway and associates with the cell surface. human Abdominal aortic aneurysm LPA 4018 serum: increase in RNA level| peripheral blood cells: increase in protein level| plasma: increase in protein level PMID: 19233690| PMID: 23490293| PMID: 19564206 human Abdominal aortic aneurysm LRP1 4035 rs1466535| aortic tissue: decrease in RNA level| decrease in protein level| rs4759044| NM_002332 PMID: 22055160| PMID: 26781079| PMID: 24054777| PMID: 24046328 in EUR population "Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus." human Abdominal aortic aneurysm LRP5 4041 serum: decrease in RNA level| rs4988300| rs3781590 PMID: 19233690| PMID: 23490293 Membrane; Single-pass type I membrane protein. Endoplasmic reticulum. Note=Chaperoned to the plasma membrane by MESD.. human Abdominal aortic aneurysm LTBP4 8425 21011A>T PMID: 19897194 prognosis and progress "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm LTC4S 4056 aneurysm wall: increase in RNA level PMID: 21078989 Nucleus outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm MIF 4282 aortic wall: increase in protein level PMID: 16115023 "Secreted. Cytoplasm. Note=Does not have a cleavable signal sequence and is secreted via a specialized, non-classical pathway. Secreted by macrophages upon stimulation by bacterial lipopolysaccharide (LPS), or by M.tuberculosis antigens.." human Abdominal aortic aneurysm MIR1281 100302237 plasma: increase in RNA level PMID: 25916817 human Abdominal aortic aneurysm MIR191 406966 plasma: increase in RNA level PMID: 25916817 human Abdominal aortic aneurysm MIR195 406971 plasma: decrease in RNA level PMID: 25201911 human Abdominal aortic aneurysm MIR205 406988 aortic tissue: increase in RNA level PMID: 26781079 human Abdominal aortic aneurysm MIR21 406991 aortic wall: increase in protein level| MicroRNA-21 Blocks Abdominal Aortic Aneurysm Development and Nicotine-Augmented Expansion. PMID: 22357537 human Abdominal aortic aneurysm MIR455 619556 plasma: increase in RNA level PMID: 25916817 human Abdominal aortic aneurysm MMP1 4312 aortic wall: increase in protein level PMID: 16115023 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm MMP10 4319 nt+180 PMID: 15944607 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm MMP12 4321 aneurysm wall: increase in RNA level PMID: 23220275 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm MMP13 4322 increase in protein level| increase in RNA level PMID: 15156361 "Secreted, extracellular space, extracellular matrix. Secreted." human Abdominal aortic aneurysm MMP2 4313 -1360C> T| aortic tissue: increase in RNA level| vascular smooth muscle cells: increase in RNA level| blood: decrease in protein level| aortic wall: increase in RNA level| plasma: decrease in protein level PMID: 19515587| PMID: 26988568| PMID: 24080131| PMID: 23770527| PMID: 23538006| PMID: 21427648 "Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Isoform 2: Cytoplasm. Mitochondrion." human Abdominal aortic aneurysm MMP3 4314 nt-1612| + 649C> T| 5A allele PMID: 20302034| PMID: 19515587| PMID: 17875574 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm MMP8 4317 aneurysm wall: increase in protein level PMID: 16432074 prognosis and progress (rupture) "Cytoplasmic granule. Secreted, extracellular space, extracellular matrix. Note=Stored in intracellular granules." human Abdominal aortic aneurysm MMP9 4318 serum/plasma: increase in protein level| -1562C> T| aneurysm wall: increase in protein level| vascular smooth muscle cells: increase in RNA level| aneurysm wall: increase in RNA level| rs8113877| rs8125581| plasma: decrease in protein level PMID: 19525292| PMID: 17920311| PMID: 16432074| PMID: 14681642| PMID: 27533781| PMID: 25033895| PMID: 24080131| PMID: 23988549| PMID: 23538006| PMID: 23220275| PMID: 22942228| PMID: 21427648 prognosis and progress (rupture) "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm MPPED2 744 rs11031122| rs11031125 PMID: 24046328 in EUR population human Abdominal aortic aneurysm MT-CO2 4513 plasma: increase in RNA level PMID: 24133193 COX-2/mPGES-1/EP-4 axis may play a role in AAA-associated hypervascularization Mitochondrion. human Abdominal aortic aneurysm MTHFD1 4522 rs8003379 PMID: 18635682 protective Cytoplasm. human Abdominal aortic aneurysm MTHFR 4524 C677T | rs1801133| + 677C> T PMID: 20302034| PMID: 18635682| PMID: 17920311 weak (border significant) human Abdominal aortic aneurysm MTR 4548 rs2853523 PMID: 18635682 protective Cytoplasm. human Abdominal aortic aneurysm MTRR 4552 rs326118 PMID: 18635682 Isoform B: Cytoplasm. Isoform C: Cytoplasm. Isoform A: Cytoplasm. human Abdominal aortic aneurysm MYH11 4629 "NM_002474.2:c.5787-11_5787-8delACAA| rs149964928, NM_002474.2:c.3791T-C, NP_002465.1:p.N312S| NM_002474.2:c.3700G-A, NP_002465.1:p.T1558M| rs144244239, NM_006258.3:c.575G-A, NP_002465.1:p.R501H| NM_003036.3:c.100G-T, NP_002465.1:p.E1892D| p.Arg254Cys" PMID: 26017485 familial aneurysm likely pathogenic Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Abdominal aortic aneurysm MYLK 4638 "NM_005902.3:c.836G-A, NP_444253.3:p.N1195D| NM_053025.3:c.1327C-T, NP_444253.3:p.P443S| NM_053025.3:c.2101G-A, NP_444253.3:p.A701T| NM_053025.3:c.3403G-A, NP_444253.3:p.G1135R| NM_053025.3:c.745T-G, NP_444253.3:p.S249A" PMID: 26017485 "Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis." human Abdominal aortic aneurysm MYT1L 23040 rs4853946 PMID: 22055160 in NOPOP population Nucleus. Chromosome. Note=Preferentially binds to DNA binding sites that are in an open chromatin configuration.. human Abdominal aortic aneurysm NLRP3 114548 rs35829419 PMID: 21621776 "Cytoplasm, cytosol. Inflammasome. Endoplasmic reticulum. Secreted. Nucleus. Note=In macrophages, under resting conditions, mainly located in the cytosol, on the endoplasmic reticulum. After stimulation with inducers of the NLRP3 inflammasome, mitochondria redistribute in the vicinity of the endoplasmic reticulum in the perinuclear region, which results in colocalization of NLRP3 on the endoplasmic reticulum and PYCARD on mitochondria, allowing the activation of inflammasome assembly. After the induction of pyroptosis, inflammasome specks are released into the extracellular space where they can further promote IL1B processing and where they can be engulfed by macrophages. Phagocytosis induces lysosomal damage and inflammasome activation in the recipient cells (PubMed:24952504). In the Th2 subset of CD4(+) helper T-cells, mainly located in the nucleus. Nuclear localization depends upon KPNA2. In the Th1 subset of CD4(+) helper T-cells, mainly cytoplasmic (By similarity).." human Abdominal aortic aneurysm NNMT 4837 rs3819100 PMID: 18635682 weak (border significant) Cytoplasm. human Abdominal aortic aneurysm NOS3 4846 G894T PMID: 19638352 "Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity." human Abdominal aortic aneurysm NOTCH1 4851 aortic wall: decrease in protein level| decrease in RNA level| aorta: increase in protein level PMID: 24768363| PMID: 23087364 Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.. human Abdominal aortic aneurysm NOTCH3 4854 "c.1851C>C/g, p.C6172W| aneurysm tissue: decrease in RNA level" PMID: 27375140| PMID: 22310065 uncertain significance Cell membrane ; Single-pass type I membrane protein. Notch 3 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. human Abdominal aortic aneurysm NPPB 4879 serum: increase in protein level PMID: 23058722 prognosis of surgery Secreted. human Abdominal aortic aneurysm PEPD 5184 rs7248389| rs10500265| rs6510383| rs7250833| rs2241380 PMID: 21247474 human Abdominal aortic aneurysm PGR 5241 rs495997 PMID: 24046328 in EUR population "Nucleus. Cytoplasm. Note=Nucleoplasmic shuttling is both hormone- and cell cycle-dependent. On hormone stimulation, retained in the cytoplasm in the G(1) and G(2)/M phases. Isoform A: Nucleus. Cytoplasm. Note=Mainly nuclear. Isoform 4: Mitochondrion outer membrane." human Abdominal aortic aneurysm PLA2G2A 5320 serum: increase in protein level PMID: 21382622 Cell membrane ; Peripheral membrane protein. Secreted. human Abdominal aortic aneurysm PLA2G7 7941 G994 >T PMID: 11807372 "Secreted, extracellular space." human Abdominal aortic aneurysm PLAT 5327 plasma: increase in protein level PMID: 23959729 "Secreted, extracellular space." human Abdominal aortic aneurysm PON1 5444 plasma: decrease in RNA level PMID: 26993251 "Secreted, extracellular space." human Abdominal aortic aneurysm PPARG 5468 c.34G > C PMID: 19438902 weak significance Nucleus. Cytoplasm. Note=Redistributed from the nucleus to the cytosol through a MAP2K1/MEK1-dependent manner. NOCT enhances its nuclear translocation. human Abdominal aortic aneurysm PRDX1 5052 aneurysm tissue: increase in protein level| increase in RNA level PMID: 23241402 in CD68(+)MR(-) macrophage Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. human Abdominal aortic aneurysm PRKCD 5580 arterial sections: increase in protein level PMID: 18952226 "Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Cell membrane ; Peripheral membrane protein." human Abdominal aortic aneurysm PROC 5624 blood: increase in protein level PMID: 25115555 Secreted. Golgi apparatus. Endoplasmic reticulum. human Abdominal aortic aneurysm PROS1 5627 blood: increase in protein level PMID: 25115555 Secreted. human Abdominal aortic aneurysm PTEN 5728 aortic wall: decrease in protein level PMID: 22357537 "Cytoplasm. Nucleus. Nucleus, PML body. Note=Monoubiquitinated form is nuclear. Nonubiquitinated form is cytoplasmic. Colocalized with PML and USP7 in PML nuclear bodies (PubMed:18716620). XIAP/BIRC4 promotes its nuclear localization (PubMed:19473982).. Isoform alpha: Secreted. Note=May be secreted via a classical signal peptide and reenter into cells with the help of a poly-Arg motif." human Abdominal aortic aneurysm PTGER2 5732 plasma: increase in RNA level PMID: 24133193 COX-2/mPGES-1/EP-4 axis may play a role in AAA-associated hypervascularization Cell membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm PTGER4 5734 plasma: increase in RNA level PMID: 24133193 COX-2/mPGES-1/EP-4 axis may play a role in AAA-associated hypervascularization Cell membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm PTGES 9536 plasma: increase in RNA level PMID: 24133193 COX-2/mPGES-1/EP-4 axis may play a role in AAA-associated hypervascularization Membrane ; Multi-pass membrane protein. human Abdominal aortic aneurysm PYCARD 29108 aneurysm tissue: increase in RNA level PMID: 24618883 "Cytoplasm. Endoplasmic reticulum. Mitochondrion. Nucleus. Note=Upstream of caspase activation, a redistribution from the cytoplasm to the aggregates occurs. These appear as hollow, perinuclear spherical, ball-like structures. Upon NLRP3 inflammasome activation redistributes to the perinuclear space localizing to endoplasmic reticulum and mitochondria. Localized primarily to the nucleus in resting monocytes/macrophages and rapidly redistributed to the cytoplasm upon pathogen infection. Localized to large cytoplasmic aggregate appearing as a speck containing AIM2, PYCARD, CASP8 and bacterial DNA after infection with Francisella tularensis (By similarity).." human Abdominal aortic aneurysm RAGE 177 G82S PMID: 25789318 sporadic aneurysm human Abdominal aortic aneurysm RETNLB 84666 increase in protein level| increase in RNA level PMID: 25479529 Secreted. human Abdominal aortic aneurysm RIPK3 11035 medial smooth muscle cell: increase in protein level PMID: 25563840 "Cytoplasm, cytosol. Cell membrane. Mitochondrion." human Abdominal aortic aneurysm RORA 6095 rs6494226| rs12441037 PMID: 24046328 in EUR population Nucleus. human Abdominal aortic aneurysm SELENOP 6414 rs3877899| rs7579 PMID: 25395084 no healthy control in this test progress and prognosis Secreted. Note=Passes from plasma into the glomerular filtrate where it is removed by endocytosis mediated by LRP2 in the proximal tubule epithelium.. human Abdominal aortic aneurysm SERPINE1 5054 -675 4G>5G| -847 A>G PMID: 17182940| PMID: 12027469 weak (border significant) progress and prognosis Secreted. human Abdominal aortic aneurysm SERPINF2 5345 "rs1057335, NM_003036.3:c.94C-G, NP_000925.2:p.R434K| p.Arg407Lys" PMID: 25065555 peotective Secreted. human Abdominal aortic aneurysm SHH 6469 aortic wall: decrease in protein level| decrease in RNA level PMID: 24768363 "Sonic hedgehog protein N-product: Cell membrane ; Lipid-anchor. Note=The dual-lipidated sonic hedgehog protein N-product (ShhNp) is firmly tethered to the cell membrane where it forms multimers (PubMed:24522195). Further solubilization and release from the cell surface seem to be achieved through different mechanisms, including the interaction with DISP1 and SCUBE2, movement by lipoprotein particles, transport by cellular extensions called cytonemes or by the proteolytic removal of both terminal lipidated peptides (PubMed:26875496, PubMed:24522195).." human Abdominal aortic aneurysm SIRT1 23411 aneurysm tissue: decrease in RNA level PMID: 27650558 "Nucleus, PML body. Cytoplasm. Nucleus. Note=Recruited to the nuclear bodies via its interaction with PML (PubMed:12006491). Colocalized with APEX1 in the nucleus (PubMed:19934257). May be found in nucleolus, nuclear euchromatin, heterochromatin and inner membrane (PubMed:15469825). Shuttles between nucleus and cytoplasm (By similarity). Colocalizes in the nucleus with XBP1 isoform 2 (PubMed:20955178).. SirtT1 75 kDa fragment: Cytoplasm. Mitochondrion." human Abdominal aortic aneurysm SLC19A1 6573 rs3788205 PMID: 18635682 protective Membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm SLC30A8 169026 rs3019885 PMID: 24423473 weak significance (GWAS) G allele is protective "Cell membrane ; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle membrane ; Multi-pass membrane protein. Note=Associated with insulin and glucagon secretory granules.." human Abdominal aortic aneurysm SORT1 6272 rs599839 PMID: 23535823 "Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane ; Single-pass type I membrane protein. Endosome membrane ; Single-pass type I membrane protein. Golgi apparatus, Golgi stack membrane ; Single-pass type I membrane protein. Nucleus membrane ; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein; Extracellular side. Lysosome membrane ; Single-pass type I membrane protein. Note=Localized to membranes of the endoplasmic reticulum, endosomes, Golgi stack, lysosomes and nucleus. A small fraction of the protein is also localized to the plasma membrane. May also be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes. Localization to the plasma membrane in adipocytes may be enhanced by insulin." human Abdominal aortic aneurysm SPP1 6696 serum: increase in protein level PMID: 17170369 Secreted. human Abdominal aortic aneurysm STAT1 6772 "c.820C>T, p.Arg274Trp" PMID: 26080282 case report "Cytoplasm. Nucleus. Note=Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to IFN-gamma and signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4 (PubMed:15322115). Monomethylation at Lys-525 is required for phosphorylation at Tyr-701 and translocation into the nucleus (PubMed:28753426). Translocates into the nucleus in response to interferon-beta stimulation (PubMed:26479788).." human Abdominal aortic aneurysm TDRD10 126668 rs6674171 PMID: 24423473 weak significance (GWAS) human Abdominal aortic aneurysm TGFB1 7040 rs1800469| aortic wall: increase in protein level| increase in RNA level PMID: 26027897| PMID: 24768363 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm TGFB2 7042 "rs10482721, NM_003238.3:c.272G-A, NP_003229.1:p.R91H| rs10482810, NM_004612.2:c.1460G-A, NP_003229.1:p.V207L" PMID: 26017485 Secreted. human Abdominal aortic aneurysm TGFBR1 7046 "rs111513627, NM_004612.2:c.953T-G, NP_004603.1:p.I72L| rs1626340" PMID: 26017485| PMID: 26027897 "gene-gene interactions (AGTR1 rs5182,+TGFBR1 rs1626340+TGFB1 rs1800469)" "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Abdominal aortic aneurysm TGFBR2 7048 "NM_003242.5:c.1498delA| rs1078985CC, g.42917C > T| p.Ile525Phefs*18| aneurysm tissue: CNV EX8 del| decrease in RNA level| rs764522| rs1036095" PMID: 26017485| PMID: 19434696| PMID: 22310065| PMID: 21855067 weak significance| sporadic aneurysm Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Abdominal aortic aneurysm TGM2 7052 aortic wall: increase in RNA level| aortic wall: increase in RNA level PMID: 23538006 human Abdominal aortic aneurysm THBS1 7057 aneurysm tissue: decrease in RNA level| serum: decrease in protein level PMID: 28364044| PMID: 21899841 "Secreted. Cell surface. Secreted, extracellular space, extracellular matrix. Endoplasmic reticulum. Sarcoplasmic reticulum. Note=Secreted by thrombin-activated platelets and binds to the cell surface in the presence of extracellular Ca(2+) (PubMed:6777381). Incorporated into the extracellular matrix of fibroblasts (PubMed:6341993). Also detected in the endoplasmic reticulum and sarcoplasmic reticulum where it plays a role in the ER stress response (By similarity).." human Abdominal aortic aneurysm TIMP1 7076 "rs4898, NM_003255.4:c.303G-A, NP_003245.1:p.F124F| rs2070584| plasma: increase in protein level" PMID: 10372551| PMID: 15944607| PMID: 21427648 Secreted. human Abdominal aortic aneurysm TIMP2 7077 "rs2277698, NM_012452.2:c.226G-T, NP_003246.1:p.S101S| 231+23C>T| -479C>T| rs8179090| plasma: decrease in protein level" PMID: 10372551| PMID: 18702016| PMID: 24534323| PMID: 21427648 sporadic aneurysm Secreted. human Abdominal aortic aneurysm TIMP3 7078 nt-1296 PMID: 15944607 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm TLR4 7099 vascular smooth muscle cells: increase in RNA level PMID: 26741694 "Cell membrane ; Single-pass type I membrane protein. Early endosome. Note=Upon complex formation with CD36 and TLR6, internalized through dynamin-dependent endocytosis (PubMed:20037584). Colocalizes with RFTN1 at cell membrane and then together with RFTN1 moves to endosomes, upon lipopolysaccharide stimulation.." human Abdominal aortic aneurysm TNFAIP6 7130 blood/aortic tissue: increase in RNA level PMID: 29180197 human Abdominal aortic aneurysm TNFRSF11B 4982 plasma: increase in protein level PMID: 19438902 Secreted. human Abdominal aortic aneurysm TNFSF12 8742 aneurysm: decrease in protein level PMID: 21130992 prognosis and progress "Cell membrane ; Single-pass type II membrane protein. Tumor necrosis factor ligand superfamily member 12, secreted form: Secreted. Isoform TWE-PRIL: Cell membrane; Single-pass membrane protein." human Abdominal aortic aneurysm TNXB 7148 aneurysm tissue: increase in protein level PMID: 16567571 "Secreted, extracellular space, extracellular matrix." human Abdominal aortic aneurysm TYMS 7298 rs16430 PMID: 18635682 protective Nucleus. Cytoplasm. Mitochondrion. Mitochondrion matrix. Mitochondrion inner membrane. human Abdominal aortic aneurysm UTS2 10911 aneurysm tissue: increase in RNA level PMID: 15306183 Secreted. human Abdominal aortic aneurysm UTS2R 2837 aneurysm tissue: increase in RNA level PMID: 15306183 Cell membrane; Multi-pass membrane protein. human Abdominal aortic aneurysm VEGFA 7422 634C| vascular smooth muscle cells: increase in protein level| aortic wall: increase in RNA level PMID: 24657063| PMID: 23746831| PMID: 21436157 at higher risk of aneurysm when have VEGFA -634CC and HIF1A 1772CC-1790GG at the same time "Secreted. Note=VEGF121 is acidic and freely secreted. VEGF165 is more basic, has heparin-binding properties and, although a signicant proportion remains cell-associated, most is freely secreted. VEGF189 is very basic, it is cell-associated after secretion and is bound avidly by heparin and the extracellular matrix, although it may be released as a soluble form by heparin, heparinase or plasmin." human Abdominal aortic aneurysm VWF 7450 plasma: increase in RNA level PMID: 27581227 possible biomarker for aneurysm growth and the evolution of thrombus "Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage granules." human Abdominal aortic aneurysm XYLT1 64131 c.343G>T (p.A115S) PMID: 18294457 Golgi apparatus membrane ; Single-pass type II membrane protein. Secreted. Note=Detected predominantly in the Golgi apparatus.. human Abdominal aortic aneurysm ZNF665 79788 rs11666426 PMID: 22055160 in NOPOP population Nucleus. human Aneurysm ACE 1636 OMIM: 106180 "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Aneurysm ACTA2 59 OMIM: 102620 "Cytoplasm, cytoskeleton." human Aneurysm ADA2 51816 OMIM: 607575 Secreted. human Aneurysm ALOX5 240 OMIM: 152390 "Cytoplasm. Nucleus matrix. Nucleus membrane; Peripheral membrane protein. Note=Shuttles between cytoplasm and nucleus. Found exclusively in the nucleus, when phosphorylated on Ser-272. Calcium binding promotes translocation from the cytosol and the nuclear matrix to the nuclear envelope and membrane association." human Aneurysm ANIB1 116833 OMIM: 105800 "aneurysm, intracranial berry" human Aneurysm ANIB2 449013 OMIM: 608542 "aneurysm, intracranial berry" human Aneurysm ANIB3 497657 OMIM: 609122 "aneurysm, intracranial berry" human Aneurysm ANIB4 724058 OMIM: 610213 "aneurysm, intracranial berry" human Aneurysm APOA1 335 OMIM: 107680 Secreted. human Aneurysm ASD1 431 OMIM: 108800 human Aneurysm ATP7A 538 OMIM: 300011 "Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein. Cell membrane ; Multi-pass membrane protein. Note=Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels.. Isoform 3: Cytoplasm, cytosol. Isoform 5: Endoplasmic reticulum." human Aneurysm BGN 633 OMIM: 301870 "Secreted, extracellular space, extracellular matrix." human Aneurysm C1R 715 OMIM: 613785 Secreted. human Aneurysm CCL3 6348 OMIM: 182283 Secreted. human Aneurysm CDKN2A 1029 OMIM: 600160 Cytoplasm. Nucleus. human Aneurysm CDKN2B 1030 OMIM: 600431 Cytoplasm. Note=Also found in the nucleus. human Aneurysm CDKN2B-AS1 100048912 OMIM: 613149 human Aneurysm CNNM2 54805 OMIM: 607803 Cell membrane ; Multi-pass membrane protein. human Aneurysm COL1A1 1277 OMIM: 120150 "Secreted, extracellular space, extracellular matrix." human Aneurysm COL3A1 1281 OMIM: 120180 "Secreted, extracellular space, extracellular matrix." human Aneurysm COL4A1 1282 OMIM: 120130 "Secreted, extracellular space, extracellular matrix, basement membrane." human Aneurysm CST3 1471 OMIM: 604312 Secreted. human Aneurysm CTSC 1075 OMIM: 602365 Lysosome. human Aneurysm CXCL10 3627 OMIM: 147310 Secreted. human Aneurysm CXCL2 2920 OMIM: 139110 Secreted. human Aneurysm EDNRA 1909 OMIM: 131243 Cell membrane; Multi-pass membrane protein. human Aneurysm EFEMP2 30008 "EX7 c.608A>C, p. Asp203Ala" PMID: 22943132 Secreted. human Aneurysm ELN 2006 OMIM: 130160 "Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.." human Aneurysm EMILIN1 11117 OMIM: 130660 "Secreted, extracellular space, extracellular matrix. Note=Found mainly at the interface between amorphous elastin and microfibrils.." human Aneurysm EPO 2056 OMIM: 133170 Secreted. human Aneurysm FBLN2 2199 OMIM: 135821 "Secreted, extracellular space, extracellular matrix." human Aneurysm FBLN5 10516 OMIM: 604580 "Secreted. Secreted, extracellular space, extracellular matrix. Note=co-localizes with ELN in elastic fibers.." human Aneurysm FBN1 2200 OMIM: 134797 "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Aneurysm FHL1 2273 OMIM: 300163 "Isoform 1: Cytoplasm. Isoform 3: Cytoplasm. Nucleus. Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes." human Aneurysm FLNA 2316 OMIM: 300017 "Cytoplasm, cell cortex. Cytoplasm, cytoskeleton." human Aneurysm FOXE3 2301 OMIM: 601094 Nucleus. human Aneurysm GGCX 2677 OMIM: 137167 Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Aneurysm HDAC8 55869 OMIM: 300269 Nucleus. Cytoplasm. Note=Excluded from the nucleoli. Found in the cytoplasm of cells showing smooth muscle differentiation. human Aneurysm IFNG 3458 OMIM: 147570 Secreted. human Aneurysm ITPKC 80271 OMIM: 606476 Nucleus. Cytoplasm. Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity. human Aneurysm LCN2 3934 blood: increase in protein level PMID: 25444221 "Secreted. Note=Upon binding to the SLC22A17 (24p3R) receptor, it is internalized." human Aneurysm LOX 4015 OMIM: 153455 "Secreted. Secreted, extracellular space." human Aneurysm LRP1 4035 OMIM: 107770 "Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus." human Aneurysm LTBP4 8425 OMIM: 604710 "Secreted, extracellular space, extracellular matrix." human Aneurysm MAPK1 5594 OMIM: 176948 "Cytoplasm, cytoskeleton, spindle. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Membrane, caveola. Note=Associated with the spindle during prometaphase and metaphase (By similarity). PEA15-binding and phosphorylated DAPK1 promote its cytoplasmic retention. Phosphorylation at Ser- 246 and Ser-248 as well as autophosphorylation at Thr-190 promote nuclear localization.." human Aneurysm MAPK3 5595 OMIM: 601795 "Cytoplasm. Nucleus. Membrane, caveola. Note=Autophosphorylation at Thr-207 promotes nuclear localization." human Aneurysm MAPK8 5599 OMIM: 601158 Cytoplasm. Nucleus. Note=Colocalizes with POU5F1 in the nucleus.. human Aneurysm MAT2A 4144 OMIM: 601468 human Aneurysm MFAP5 8076 OMIM: 601103 "Secreted, extracellular space, extracellular matrix." human Aneurysm MMP12 4321 OMIM: 601046 "Secreted, extracellular space, extracellular matrix." human Aneurysm MMP2 4313 OMIM: 120360 "Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Isoform 2: Cytoplasm. Mitochondrion." human Aneurysm MMP9 4318 OMIM: 120361 "Secreted, extracellular space, extracellular matrix." human Aneurysm MMVP1 50951 OMIM: 157700 Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Aneurysm MYH11 4629 OMIM: 160745 Melanosome. human Aneurysm MYH6 4624 OMIM: 160710 "Cytoplasm, myofibril. Note=Thick filaments of the myofibrils." human Aneurysm MYLK 4638 OMIM: 600922 "Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis." human Aneurysm NOX4 50507 "N129S, T555S " PMID: 27912196 "Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane ; Multi-pass membrane protein. Cell junction, focal adhesion. Note=May localize to plasma membrane and focal adhesions. According to PubMed:15927447, may also localize to the nucleus. Isoform 4: Nucleus. Nucleus, nucleolus." human Aneurysm NTM 50863 OMIM: 607938 "Cell membrane; Lipid-anchor, GPI-anchor." human Aneurysm PCNT 5116 OMIM: 605925 "Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome." human Aneurysm PKD1 5310 OMIM: 601313 "Cell membrane ; Multi-pass membrane protein. Cell projection, cilium. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053).." human Aneurysm PKD2 5311 OMIM: 173910 "Cell projection, cilium membrane ; Multi-pass membrane protein. Endoplasmic reticulum membrane ; Multi-pass membrane protein. Cell membrane ; Multi-pass membrane protein. Basolateral cell membrane. Cytoplasmic vesicle membrane. Note=Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563). Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959). Cell surface and cilium localization requires GANAB (PubMed:27259053).." human Aneurysm PLG 5340 OMIM: 173350 Secreted. Note=Locates to the cell surface where it is proteolytically cleaved to produce the active plasmin. Interaction with HRG tethers it to the cell surface. human Aneurysm PRKG1 5592 OMIM: 176894 Cytoplasm. Note=Colocalized with TRPC7 in the plasma membrane.. human Aneurysm SERPINE1 5054 OMIM: 173360 Secreted. human Aneurysm SKI 6497 OMIM: 164780 Nucleus. human Aneurysm SLC2A10 81031 OMIM: 606145 "Endomembrane system ; Multi-pass membrane protein. Cytoplasm, perinuclear region." human Aneurysm SMAD3 4088 NM_005902.3:c.401_405dupTTCTA OMIM: 603109| PMID: 25729048 rheumatoid arthritis & multiple aneurysms "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Aneurysm SRF 6722 OMIM: 600589 Nucleus. human Aneurysm STAT1 6772 OMIM: 600555 "Cytoplasm. Nucleus. Note=Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to IFN-gamma and signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4 (PubMed:15322115). Monomethylation at Lys-525 is required for phosphorylation at Tyr-701 and translocation into the nucleus (PubMed:28753426). Translocates into the nucleus in response to interferon-beta stimulation (PubMed:26479788).." human Aneurysm TGFB1 7040 OMIM: 190180 "Secreted, extracellular space, extracellular matrix." human Aneurysm TGFB2 7042 OMIM: 190220 Secreted. human Aneurysm TGFB3 7043 OMIM: 190230 Secreted. human Aneurysm TGFBR1 7046 OMIM: 190181 "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Aneurysm TGFBR2 7048 mutation PMID: 26169464 case report Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Aneurysm TLL1 7092 OMIM: 606742 Secreted. human Aneurysm TSC2 7249 OMIM: 191092 Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes. human Aneurysm TTN 7273 OMIM: 188840 Cytoplasm. Nucleus. human Aneurysm UMOD 7369 OMIM: 191845 "Apical cell membrane ; Lipid-anchor, GPI-anchor. Basolateral cell membrane ; Lipid-anchor, GPI-anchor. Cell projection, cilium membrane. Note=Only a small fraction sorts to the basolateral pole of tubular epithelial cells compared to apical localization (PubMed:22776760). Secreted into urine after cleavage (PubMed:18375198, PubMed:26811476). Colocalizes with NPHP1 and KIF3A (PubMed:20172860).. Uromodulin, secreted form: Secreted. Note=Detected in urine.." human Aneurysm of heart ELN 2006 7q11.23 triploid PMID: 24932728 supravalvular aortic aneurysm "Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.." human Aneurysm of heart LMNA 4000 "rs56984562, NM_170707.3:c.1621C-T, NP_733821.1:p.R541C" PMID: 14675861 apical left ventricular aneurysm "Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C. Isoform C: Nucleus speckle." human Aneurysm of heart NKX2-5 1482 "c.73C>T, p.R25C" PMID: 22964646 "case report, membranous septum aneurysm " Nucleus. human Aneurysm of heart NOTCH1 4851 A1343V PMID: 17662764 tricuspid aortic aneurysms Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.. human Aneurysm of pulmonary artery TGFB2 7042 "NM_004612.2:c.953T-G, NP_003229.1:p.A251S" PMID: 25049390 Secreted. human Aneurysmal subarachnoid haemorrhage ACE 1636 I/D polymorphysm PMID: 15166392 "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Aneurysmal subarachnoid haemorrhage ANGPT1 284 serum: decrease in RNA level PMID: 26208799 progress and prognosis Secreted. human Aneurysmal subarachnoid haemorrhage APOE 348 APOE4 allele (E4 genotype) PMID: 19017669| PMID: 11823668 Secreted. human Aneurysmal subarachnoid haemorrhage CD40LG 959 plasma: increase in protein level PMID: 25944664 potential biomarker for prognosis "Cell membrane ; Single-pass type II membrane protein. Cell surface. CD40 ligand, soluble form: Secreted." human Aneurysmal subarachnoid haemorrhage CRP 1401 blood: increase in RNA level| blood: increase in protein level PMID: 26280117| PMID: 22732721 progress and prognosis Secreted. human Aneurysmal subarachnoid haemorrhage EDN1 1906 rs2070699 PMID: 24852947 progress and prognosis (higher risk of angiographic vasospasm) Secreted. human Aneurysmal subarachnoid haemorrhage EDNRA 1909 rs5335 PMID: 28323184 correlate with the size when the aneurysm (>7mm) reptures Cell membrane; Multi-pass membrane protein. human Aneurysmal subarachnoid haemorrhage ELN 2006 EX22 1380 G>A| INT5 233-94 G>A| INT4 196+71G>A PMID: 15297630 in Dutch population "Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.." human Aneurysmal subarachnoid haemorrhage GP1BA 2811 HPA-2b allele PMID: 15331787 Membrane; Single-pass type I membrane protein. human Aneurysmal subarachnoid haemorrhage GSN 2934 plasma: decrease in protein level PMID: 23880145 progress and prognosis (mortality) "Isoform 2: Cytoplasm, cytoskeleton. Isoform 1: Secreted." human Aneurysmal subarachnoid haemorrhage HMGB1 3146 rs2249825 PMID: 28189859 "progress and prognosis (higher expression correlates with worse prognosis like DCI, cerebral infarction)" "Nucleus. Chromosome. Cytoplasm. Secreted. Cell membrane ; Peripheral membrane protein ; Extracellular side. Endosome. Endoplasmic reticulum-Golgi intermediate compartment. Note=In basal state predominantly nuclear. Shuttles between the cytoplasm and the nucleus (PubMed:12231511, PubMed:17114460). Translocates from the nucleus to the cytoplasm upon autophagy stimulation (PubMed:20819940). Release from macrophages in the extracellular milieu requires the activation of NLRC4 or NLRP3 inflammasomes (By similarity). Passively released to the extracellular milieu from necrotic cells by diffusion, involving the fully reduced HGMB1 which subsequently gets oxidized (PubMed:19811284). Also released from apoptotic cells (PubMed:16855214, PubMed:18631454). Active secretion from a variety of immune and non-immune cells such as macrophages, monocytes, neutrophils, dendritic cells and natural killer cells in response to various stimuli such as LPS and cytokines involves a nonconventional secretory process via secretory lysosomes (PubMed:12231511, PubMed:14532127, PubMed:15944249). Secreted by plasma cells in response to LPS (By similarity). Found on the surface of activated platelets (PubMed:11154118). An increased chromatin association is observed when associated with the adenovirus protein pVII (PubMed:27362237).." human Aneurysmal subarachnoid haemorrhage HMOX1 3162 intrathecal CSF: increase in protein level PMID: 25280089 progress and prognosis (concentration in CSF increases 7 days after SAH) Microsome. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side. human Aneurysmal subarachnoid haemorrhage HP 3240 HP2-2 genotype PMID: 25583472 progress and prognosis (focal and global cerebral vasospasm) Secreted. human Aneurysmal subarachnoid haemorrhage IGF1 3479 serum: decrease in RNA level PMID: 20426845 Secreted. human Aneurysmal subarachnoid haemorrhage ITGB3 3690 HPA-1b allele PMID: 15331787 protective "Cell membrane ; Single-pass type I membrane protein. Cell projection, lamellipodium membrane. Cell junction, focal adhesion." human Aneurysmal subarachnoid haemorrhage LGALS3 3958 plasma: increase in RNA level PMID: 27781149 progress and prognosis Cytoplasm. Nucleus. Secreted. Note=Secreted by a non-classical secretory pathway and associates with the cell surface. human Aneurysmal subarachnoid haemorrhage MMP9 4318 -1562 C/T PMID: 20827608 in Polish population "Secreted, extracellular space, extracellular matrix." human Aneurysmal subarachnoid haemorrhage NOS3 4846 rs2070744| T786C PMID: 28254540| PMID: 15091109 progress and prognosis (delayed cerebral ischemia following aSAH) | prognosis and progress "Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity." human Aneurysmal subarachnoid haemorrhage SERPINE1 5054 4G/5G promoter PMID: 15105509 prognosis and progress (bleeding) Secreted. human Aneurysmal subarachnoid haemorrhage TNF 7124 -308 GA, p.C89Y" PMID: 23554019| PMID: 22167769| PMID: 24804794| PMID: 23272854| PMID: 26221609 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" COL4A1 1282 c.1493G>T| EX25: c.1555G>A| c.1583G>A PMID: 19949034 case report "Secreted, extracellular space, extracellular matrix, basement membrane." human Aortic aneurysm ACE 1636 rs4646994| I/D polymorphysm PMID: 27858843| PMID: 25155622 "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Aortic aneurysm ACTA2 59 "NM_000138.4:c.6832C-T, NP_001604.1:p.V161A" PMID: 22001912 "Cytoplasm, cytoskeleton." human Aortic aneurysm COL3A1 1281 "rs1801183, NM_000138.4:c.2448C-G, NP_000081.1:p.P668T| rs111391222, NM_002474.2:c.935A-G, NP_000081.1:p.L169F| NM_002474.2:c.1502G-A, NP_000081.1:p.A40V| rs149722210, NM_002474.2:c.4942C-T, NP_000081.1:p.A1045T| rs148387626, NM_002474.2:c.2135G-A, NP_000081.1:p.A1259V| rs113485686, NM_002474.2:c.4604G-A, NP_000081.1:p.G786R| rs121912919, NM_002474.2:c.3791T-C, NP_000081.1:p.G303R| NM_002474.2:c.3700G-A, NP_000081.1:p.G261S| rs397509370| rs146652498| NM_000090.3:c.505C>T (p.Leu169Phe)" PMID: 8514866| PMID: 22001912| PMID: 2243125| PMID: 18389341| PMID: 2349939| ClinVar: 161216 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Aortic aneurysm EFEMP2 30008 "NM_003036.3:c.347G-A, NP_058634.4:p.E161K| rs630394| p.E161K " PMID: 22440127| PMID: 25907466 case report Secreted. human Aortic aneurysm EGFLAM 133584 rs1465567 PMID: 28339009 "Secreted, extracellular space, extracellular matrix. Cell junction, synapse. Note=Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals.." human Aortic aneurysm ELN 2006 2114_2138del| 2159delC PMID: 16085695 case report "Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.." human Aortic aneurysm FBLN1 2192 E126K| E57K| R279C| A397T PMID: 27339457 uncertain significance "Secreted, extracellular space, extracellular matrix." human Aortic aneurysm FBLN2 2199 E161K PMID: 27339457 uncertain significance "Secreted, extracellular space, extracellular matrix." human Aortic aneurysm FBN1 2200 "NM_000138.4:c.1878delG| NM_000138.4:c.2133dupC| NM_000138.4:c.8011_8017dupCTGTGTG| NM_005902.3:c.859C-T, NP_000129.3:p.Q176P| NM_003238.3:c.619G-C, NP_000129.3:p.E915K| NM_003238.3:c.687C-A, NP_000129.3:p.E2169G| NM_004612.2:c.214A-T, NP_000129.3:p.D2291H| rs137854468, NM_004612.2:c.1459C-T, NP_000129.3:p.G1127S| NM_003242.5:c.1483C-T, NP_000129.3:p.Y2474C| NM_003242.5:c.1063G-C, NP_000129.3:p.C555R| NM_003242.5:c.1069G-T, NP_000129.3:p.C1497Y| NM_003242.5:c.1657T-A, NP_000129.3:p.C2181F| NM_001024847.2:c.136A-C, NP_000129.3:p.C805R| NM_003254.2:c.372C-T, NP_000129.3:p.C776*| c.6247T>C, p.2083C>R| rs2118181| rs1036477" PMID: 22001912| PMID: 17418587| PMID: 7762551| PMID: 11826022| PMID: 27558095| PMID: 25583878 aortic root aneurysm and aortic root dilatation "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Aortic aneurysm HIF1A 3091 serum: increase in RNA level PMID: 26828991 "Cytoplasm. Nucleus. Nucleus speckle. Note=Colocalizes with HIF3A in the nucleus and speckles (By similarity). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia (PubMed:9822602).." human Aortic aneurysm KLK1 3816 rs5516 PMID: 27858843 human Aortic aneurysm LRP1 4035 "NM_002474.2:c.935A-G, NP_002323.2:p.A828T" PMID: 24484584 "Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus." human Aortic aneurysm MIR145 406937 aortic tissue: increase in RNA level PMID: 25465469 ascending AA human Aortic aneurysm MMP3 4314 tissue/serum: increase in protein level| increase in RNA level PMID: 21802713 ascending AA "Secreted, extracellular space, extracellular matrix." human Aortic aneurysm MMP9 4318 tissue/serum: increase in protein level| increase in RNA level PMID: 21802713 ascending AA "Secreted, extracellular space, extracellular matrix." human Aortic aneurysm MYH11 4629 "rs369409348, NM_000934.3:c.1301G-A, NP_002465.1:p.R1648C| rs137934837, NM_003036.3:c.94C-G, NP_002465.1:p.R1535Q| NM_001040113.1:c.4963C>T (p.Arg1655Cys)" PMID: 22001912| ClinVar: 161318 uncertain significance Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Aortic aneurysm MYLK 4638 NM_053025.3:c.3184G>T (p.Ala1062Ser) ClinVar: 375866 uncertain significance "Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis." human Aortic aneurysm NDE1 54820 NM_001040113.1:c.4963C>T (p.Arg1655Cys) ClinVar: 161318 uncertain significance "Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Note=Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis." human Aortic aneurysm NOTCH1 4851 "NM_017617.3:c.3269C-G, NP_060087.3:p.T1090S| c.C3269G, p.T1090S" PMID: 23102684 ascending AA| case report; ascending AA Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.. human Aortic aneurysm PEPD 5184 serum: increase in protein level PMID: 20383038 ascending AA human Aortic aneurysm PPARGC1A 10891 plasma: increase in RNA level PMID: 27143380 "Isoform 1: Nucleus. Nucleus, PML body. Isoform B4: Nucleus. Isoform B4-8a: Cytoplasm. Nucleus. Isoform B5: Nucleus. Nucleus, PML body. Isoform 9: Nucleus." human Aortic aneurysm PTPN22 26191 aneurysm tissue: decrease in RNA level PMID: 26334848 ascending AA Cytoplasm. human Aortic aneurysm RGS1 5996 aneurysm tissue: increase in RNA level PMID: 25782711 "Cell membrane ; Peripheral membrane protein ; Cytoplasmic side. Cytoplasm, cytosol." human Aortic aneurysm RNASE13 440163 rs143881017 PMID: 28339009 Secreted. human Aortic aneurysm SERPINE1 5054 aneurysm/vascular smooth muscle cells: increase in protein level| increase in RNA level PMID: 23814118 ascending AA Secreted. human Aortic aneurysm SERPINE2 5270 aneurysm/vascular smooth muscle cells: increase in protein level| increase in RNA level PMID: 23814118 ascending AA "Secreted, extracellular space." human Aortic aneurysm SKI 6497 "rs397514590, NM_003036.3:c.347G-A, NP_003027.1:p.P35S| NM_003036.3:c.100G-A, NP_003027.1:p.L21R| rs387907304, NM_003036.3:c.101G-A, NP_003027.1:p.L32V| rs387907303, NM_003036.3:c.100G-T, NP_003027.1:p.G116E| rs387907306, NM_005902.3:c.782C-T, NP_003027.1:p.G34S| NM_005902.3:c.836G-A, NP_003027.1:p.G117R| rs387907305, NM_003036.3:c.101G-A, NP_003027.1:p.G34D| rs387907306, NM_003036.3:c.100G-T, NP_003027.1:p.G34C" PMID: 23023332 Nucleus. human Aortic aneurysm SLC2A10 81031 "NM_005902.3:c.782C-T, NP_110404.1:p.L407R" PMID: 22001912 "Endomembrane system ; Multi-pass membrane protein. Cytoplasm, perinuclear region." human Aortic aneurysm SMAD2 4087 "c.833C>T,p.A278V| c.1163A>G, p.Gln388Arg| aortic tissue: increase in protein level" PMID: 28283438| PMID: 26247899| PMID: 22532183 in Chinese population| ascending AA premature aneurysm "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081).." human Aortic aneurysm SMAD3 4088 "NM_005902.3:c.3G-A, NP_005893.1:p.M1I| aortic tissue: increase in protein level" PMID: 24711937| PMID: 22532183 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Aortic aneurysm SMAD4 4089 aortic tissue: increase in protein level PMID: 22532183 Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).. human Aortic aneurysm SMAD7 4092 aortic tissue: increase in protein level PMID: 22532183 Nucleus. Cytoplasm. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236).. human Aortic aneurysm SPATC1L 84221 rs113710653 PMID: 28339009 human Aortic aneurysm TGFB1 7040 aortic tissue: increase in protein level PMID: 23291965 biomarker of the AA progress "Secreted, extracellular space, extracellular matrix." human Aortic aneurysm TGFB2 7042 "c.995del, p.Leu332TrpfsTer27| NM_003238.3:c.356C>T (p.Pro119Leu)" PMID: 27440102| ClinVar: 213840 conflicting interpretations of pathogenicity Secreted. human Aortic aneurysm TGFBR2 7048 "rs200111443, NM_001024847.2:c.136A-C, NP_001020018.1:p.S46R| NM_003242.5:c.1159G-A, NP_003233.4:p.T206M| NM_003242.5:c.1657T-A, NP_003233.4:p.D110Y| NM_001024847.2:c.1732T>A (p.Ser578Thr)" PMID: 22001912| ClinVar: 161394 congenital aneurysm of ascending aorta conflicting interpretations of pathogenicity Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Aortic aneurysm VEGFA 7422 serum: increase in RNA level PMID: 26828991 Secreted. human Aortic aneurysm and dissection AKT2 208 TAAD tissue: decrease in protein level PMID: 23250987 protective "Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Early endosome. Note=Localizes within both nucleus and cytoplasm of proliferative primary myoblasts and mostly within the nucleus of differentiated primary myoblasts. By virtue of the N-terminal PH domain, is recruited to sites of the plasma membrane containing increased PI(3,4,5)P3 or PI(3,4)P2, cell membrane targeting is also facilitared by interaction with CLIP3. Colocalizes with WDFY2 in early endosomes (By similarity).." human Aortic aneurysm and dissection FBN1 2200 NM_000138.4:c.1545_1546delCCinsGG| NM_000138.4:c.4588C>T (p.Arg1530Cys) PMID: 19941982| ClinVar: 36078 AAD and Ectopia lentis | ascending aortic aneurysm and dissection pathogenic "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Aortic aneurysm and dissection SMAD2 4087 "NM_005901.5:c.1163A-G, NP_005892.1:p.Q388R| NM_005901.5:c.1369G-A, NP_005892.1:p.G457R| NM_005901.5:c.1346T-C, NP_005892.1:p.L449S" PMID: 26247899 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081).." human Aortic aneurysm and dissection SMAD3 4088 "NM_005902.3:c.741_742delAT| rs387906851, NM_005902.3:c.782C-T, NP_005893.1:p.T261I| rs387906850, NM_003238.3:c.272G-A, NP_005893.1:p.R287W| 15q22.3q23 central deletion| 22q11.2 central repetitive" PMID: 21217753| PMID: 22803640 AAD with early-onset osteoarthritis| case report "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Aortic aneurysm and dissection SMAD4 4089 aorta: increase in RNA level PMID: 26978681 ascending AAD Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).. human Aortic aneurysm and dissection TGFB2 7042 p.Arg320Cys PMID: 27782106 Secreted. human Aortic aneurysm and dissection TGFB3 7043 "NM_003239.3:c.1157delT| NM_003239.3:c.704delA| NM_004612.2:c.599C-T, NP_003230.1:p.I322T| NM_004612.2:c.214A-T, NP_003230.1:p.R300W| NM_004612.2:c.953T-G, NP_003230.1:p.L401P| NM_004612.2:c.1460G-A, NP_003230.1:p.D263H| NM_004612.2:c.1460G-C, NP_003230.1:p.Y365*" PMID: 25835445 Secreted. human Aortic dissection ACTA2 59 "c.116G>A, p.Arg39His| c.115C>T, p.Arg39Cys| c.145A>G, p.Met49Val| Arg179His" PMID: 24243736| PMID: 26034244 case report; acute AD| familial aneurysm| in children "Cytoplasm, cytoskeleton." human Aortic dissection ADAMTS1 9510 blood: increase in RNA level PMID: 26563155 acute AD "Secreted, extracellular space, extracellular matrix." human Aortic dissection AGT 183 blood: increase in protein level| increase in RNA level PMID: 23136157 acute AD Secreted. human Aortic dissection EFEMP2 30008 aortic wall: decrease in protein level PMID: 23518852 "EFEMP2 decreaces in acute AD, increaces in chronic AD (mRNA level)" Secreted. human Aortic dissection FBN1 2200 rs2118181| rs1036477| rs10519177| rs755251| rs4774517 PMID: 25583878 "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Aortic dissection FBN2 2201 IVS32+5G>A PMID: 25975422 case report; type A aneurysm and dissection "Secreted, extracellular space, extracellular matrix." human Aortic dissection GATA5 140628 aortic tissue: increase in RNA level PMID: 24766859 Nucleus. human Aortic dissection HMGA2 8091 aortic tissue: increase in RNA level PMID: 21692035 acute AD Nucleus. human Aortic dissection LUM 4060 serum: increase in protein level PMID: 22228989 acute AD correlates withtime from onset to admission "Secreted, extracellular space, extracellular matrix." human Aortic dissection MMP12 4321 aorta tissue/serum: decrease in protein level PMID: 23642232 "Secreted, extracellular space, extracellular matrix." human Aortic dissection MMP2 4313 rs11643630 PMID: 27759651 type A acute aortic dissection protective (GG genotype) "Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Isoform 2: Cytoplasm. Mitochondrion." human Aortic dissection MMP8 4317 plasma: increase in protein level PMID: 23442769 acute AD "Cytoplasmic granule. Secreted, extracellular space, extracellular matrix. Note=Stored in intracellular granules." human Aortic dissection MMP9 4318 blood: increase in protein level| increase in RNA level PMID: 23136157 acute AD "Secreted, extracellular space, extracellular matrix." human Aortic dissection MTHFR 4524 C677T PMID: 14613740 human Aortic dissection NOS3 4846 aortic tissue: increase in RNA level| 4a/b PMID: 24766859| PMID: 24481096 "Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity." human Aortic dissection OLR1 4973 blood: increase in protein level PMID: 23021597 acute AD Cell membrane; Lipid-anchor. Cell membrane; Single-pass type II membrane protein. Membrane raft. Secreted. Note=A secreted form also exists. Localization to membrane rafts requires palmitoylation. human Aortic dissection PTX3 5806 plasma: increase in RNA level PMID: 27779166 type A acute aortic dissection progress and prognosis (in-hospital mortality) Secreted. human Aortic dissection RNASE13 440163 rs143881017 PMID: 28339009 Secreted. human Aortic dissection RRAD 6236 aorta: increase in RNA level PMID: 26344687 Cell membrane. human Aortic dissection SMAD2 4087 "c.1346T>C, p.Leu449Se| aortic tissue: increase in protein level" PMID: 26247899| PMID: 22532183 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081).." human Aortic dissection SMAD3 4088 aortic tissue: increase in protein level| NM_005902.3:c.1129G>A (p.Val377Ile) PMID: 22532183| ClinVar: 180526 uncertain significance "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Aortic dissection SMAD4 4089 aortic tissue: increase in protein level PMID: 22532183 Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).. human Aortic dissection SMAD7 4092 aortic tissue: increase in protein level PMID: 22532183 Nucleus. Cytoplasm. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236).. human Aortic dissection SMARCA4 6597 aortic smooth muscle cells: increase in RNA level PMID: 26344687 Nucleus. Note=Colocalizes with long non-coding RNA Evf2 in nuclear RNA clouds.. human Aortic dissection TGFB1 7040 aortic tissue: increase in protein level PMID: 22532183 "Secreted, extracellular space, extracellular matrix." human Aortic dissection TGFBR2 7048 R460H PMID: 16885183 case report; familial aneurysm Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Aortic dissection TNC 3371 serum: increase in protein level| aortic wall: increase in protein level PMID: 23742930| PMID: 23656926 type B aneurysm and dissection| type A aneurysm and dissection progress and prognosis "Secreted, extracellular space, extracellular matrix." human Aortic dissection TNXB 7148 blood: increase in RNA level PMID: 26916429 type A aneurysm and dissection potential early biomarker for the risk stratification "Secreted, extracellular space, extracellular matrix." human Axillary artery aneurysm ACTA2 59 "c.536G>A, p.Arg179His" PMID: 28343608 "Cytoplasm, cytoskeleton." human Behçet disease MMP9 4318 rs17577 PMID: 25639450 "Secreted, extracellular space, extracellular matrix." human Brachial artery aneurysm MTHFR 4524 677C/T PMID: 23460600 brachial artery aneurysm human Carotid aneurysm COL4A2 1284 c.3206delC PMID: 22333902 case report "Secreted, extracellular space, extracellular matrix, basement membrane." human Carotid aneurysm TGFBR2 7048 "c.1610 G>C, p.R528C" PMID: 22734312 case report Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Cerebral aneurysm AAGAB 79719 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytosol." human Cerebral aneurysm ABLIM1 3983 rs7923449 PMID: 20613766 in ASN population "Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton.." human Cerebral aneurysm ABRACL 58527 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm ACACB 32 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion. Nucleus. Endomembrane system. Note=May associate with membranes. human Cerebral aneurysm ACAT1 38 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion. human Cerebral aneurysm ACE 1636 I/D polymorphysm PMID: 18477980| PMID: 23879759 protective "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Cerebral aneurysm ACTA1 58 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton." human Cerebral aneurysm ACTN1 87 aneurysm tissue: decrease in RNA level PMID: 26385002 sporadic aneurysm "Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane. Cell junction. Cell projection, ruffle. Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures.." human Cerebral aneurysm ADAM12 8038 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. Isoform 4: Secreted. human Cerebral aneurysm ADAM28 10863 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. human Cerebral aneurysm ADAM33 80332 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm ADAMTS15 170689 p.E133Q PMID: 25649796 "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm ADAMTS17 170691 rs2028592 PMID: 20613766 in ASN population "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm ADAMTS2 9509 aneurysm wall: increase in RNA level| blood: increase in RNA level GEO: GSE75436 | GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm ADAMTS6 11174 rs6886919 PMID: 20613766 in ASN population "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm ADAP2 55803 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Cell membrane. Note=Constitutively associated with the plasma membrane. Excluded from the nucleus. human Cerebral aneurysm ADGRB3 577 rs3823061 PMID: 22286173 in ASN population Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm ADIPOQ 9370 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm ADIRF 10974 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm ADORA2B 136 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm AES 166 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm AGBL1 123624 rs1867472 PMID: 22961961 in EUR population "Cytoplasm, cytosol." human Cerebral aneurysm AGMO 392636 rs4628172| rs7781293| rs2389409 PMID: 20613766 in ASN population Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm AGTR1 185 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm AIF1L 83543 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side. Note=Colocalizes with F-actin. Partially relocates to membrane ruffles in response to invading bacteria." human Cerebral aneurysm AIM2 9447 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Note=Activated inflammasomes can aggregate in the cytosol as speck-like particles. human Cerebral aneurysm AK4 205 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion matrix. human Cerebral aneurysm AKAP1 8165 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion outer membrane. human Cerebral aneurysm AKAP5 9495 rs3742609 PMID: 20613766 in ASN population Membrane ; Lipid-anchor. Note=Associates with lipid rafts. human Cerebral aneurysm ALDH2 217 rs671| NM_000690 PMID: 22286173 in ASN population Mitochondrion matrix. human Cerebral aneurysm ALDOC 230 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm ALG8 79053 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm ANAPC16 119504 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus. Chromosome, centromere, kinetochore." human Cerebral aneurysm ANGPTL1 9068 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm ANIB4 724058 chr 5p15.2-14.3 PMID: 16740915 case report human Cerebral aneurysm ANKDD1A 348094 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm ANKRD44 91526 rs919433 PMID: 24497844 human Cerebral aneurysm ANXA3 306 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm AOC3 8639 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type II membrane protein. human Cerebral aneurysm APEX1 328 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus. Nucleus, nucleolus. Nucleus speckle. Endoplasmic reticulum. Cytoplasm. Note=Detected in the cytoplasm of B-cells stimulated to switch (By similarity). Colocalized with SIRT1 in the nucleus. Colocalized with YBX1 in nuclear speckles after genotoxic stress. Together with OGG1 is recruited to nuclear speckles in UVA-irradiated cells. Colocalized with nucleolin and NPM1 in the nucleolus. Its nucleolar localization is cell cycle dependent and requires active rRNA transcription. Colocalized with calreticulin in the endoplasmic reticulum. Translocation from the nucleus to the cytoplasm is stimulated in presence of nitric oxide (NO) and function in a CRM1-dependent manner, possibly as a consequence of demasking a nuclear export signal (amino acid position 64-80). S-nitrosylation at Cys-93 and Cys-310 regulates its nuclear-cytosolic shuttling. Ubiquitinated form is localized predominantly in the cytoplasm.. DNA-(apurinic or apyrimidinic site) lyase, mitochondrial: Mitochondrion. Note=The cleaved APEX2 is only detected in mitochondria (By similarity). Translocation from the cytoplasm to the mitochondria is mediated by ROS signaling and cleavage mediated by granzyme A. Tom20-dependent translocated mitochondrial APEX1 level is significantly increased after genotoxic stress.." human Cerebral aneurysm APOC1 341 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm APOE 348 APOE4 allele PMID: 18477980| PMID: 26830841 protective Secreted. human Cerebral aneurysm APOL1 8542 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm APOOL 139322 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion inner membrane ; Multi-pass membrane protein. Mitochondrion. human Cerebral aneurysm ARHGAP6 395 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm ARHGEF11 9826 rs7550260 PMID: 20613766 in ASN population Cytoplasm. Membrane. Note=Translocated to the membrane upon stimulation. human Cerebral aneurysm ARL4C 10123 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell projection, filopodium. Cell membrane. Cytoplasm." human Cerebral aneurysm ARMC9 80210 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton, cilium basal body." human Cerebral aneurysm ARPC1B 10095 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton." human Cerebral aneurysm ARSG 22901 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Lysosome. Note=Previously observed endoplasmic reticulum localization is most likely due to folding/maturation problems for overexpressed proteins. human Cerebral aneurysm ART3 419 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane; Lipid-anchor, GPI-anchor." human Cerebral aneurysm ASAP1 50807 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Membrane. Note=Predominantly cytoplasmic. Partially membrane-associated.. human Cerebral aneurysm ASIC2 40 rs7209819 PMID: 20613766 in ASN population "Cell membrane ; Multi-pass membrane protein. Note=Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes.." human Cerebral aneurysm ASPA 443 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. human Cerebral aneurysm ATP6V0E2 155066 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm ATP6V1A 523 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm ATXN1L 342371 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cell projection, dendrite. Note=Forms nuclear foci. Colocalizes with NCOR2 and HDAC3. Distributed beyond the nucleus into the cell body and dendrites in Purkinje cells and in inferior olive cells." human Cerebral aneurysm AVPR1A 552 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm AXL 558 CSF: increase in RNA level PMID: 25885003 progress and prognosis (rupture) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm BARD1 580 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Note=During S phase of the cell cycle, colocalizes with BRCA1 into discrete subnuclear foci. Can translocate to the cytoplasm. Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex." human Cerebral aneurysm BAX 581 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Isoform Alpha: Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Colocalizes with 14-3-3 proteins in the cytoplasm. Under stress conditions, undergoes a conformation change that causes release from JNK-phosphorylated 14-3-3 proteins and translocation to the mitochondrion membrane. Isoform Beta: Cytoplasm. Isoform Gamma: Cytoplasm. Isoform Delta: Cytoplasm." human Cerebral aneurysm BCAM 4059 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm BCAT1 586 aneurysm wall: increase in RNA level| rs11047681 GEO: GSE75436 | PMID: 22961961 p<0.05 and FDR<0.05 (GEO)| in EUR population Cytoplasm. human Cerebral aneurysm BCL2 596 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Mitochondrion outer membrane ; Single-pass membrane protein. Nucleus membrane ; Single-pass membrane protein. Endoplasmic reticulum membrane ; Single-pass membrane protein. human Cerebral aneurysm BET1L 51272 rs2280543| NM_016526 PMID: 22286173 in ASN population "Golgi apparatus membrane ; Single-pass type IV membrane protein. Golgi apparatus, trans-Golgi network membrane. Note=Present throughout the Golgi apparatus, with increasing concentration from cis-Golgi to the trans-Golgi face of the stacks.." human Cerebral aneurysm BLNK 29760 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Cell membrane. Note=BCR activation results in the translocation to membrane fraction. human Cerebral aneurysm BOLL 66037 rs700651 | NM_197970 PMID: 20395613 familial aneurysm Cytoplasm. human Cerebral aneurysm BRI3BP 140707 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion outer membrane ; Multi-pass membrane protein. human Cerebral aneurysm BTC 685 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Betacellulin: Secreted, extracellular space. Probetacellulin: Cell membrane; Single-pass type I membrane protein." human Cerebral aneurysm BTNL9 153579 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm BVES 11149 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Lateral cell membrane. Cell junction, tight junction. Membrane ; Multi-pass membrane protein. Cell membrane, sarcolemma. Membrane, caveola. Note=Colocalizes with VAMP3 at the cell-cell contact in cardiac and skeletal muscle (By similarity). Its movement from the cytoplasm to membrane is an early event occurring concurrently with cell-cell contact. Colocalizes in epithelial cells with OCLN and TJP1 in an apical-lateral position within the z axis. Detected at cell-cell contact but never observed at the free surface of epithelial cells.." human Cerebral aneurysm C11ORF96 387763 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C12ORF49 79794 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C12ORF57 113246 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C16ORF58 64755 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C1ORF53 388722 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C1RL 51279 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm C2ORF88 84281 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C3AR1 719 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm C3ORF70 285382 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C4ORF48 401115 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C5ORF46 389336 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm C5ORF56 441108 rs2706395 PMID: 22961961 in EUR population human Cerebral aneurysm CAB39L 81617 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm CACNA1E 777 rs638132 PMID: 22961961 in EUR population Membrane; Multi-pass membrane protein. human Cerebral aneurysm CACNA2D3 55799 rs11130399| rs6768189 PMID: 20613766 in ASN population Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm CAMK1D 57118 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Nuclear localization increases upon activation by KCl treatment in hippocampal neurons. human Cerebral aneurysm CAPN6 827 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton, spindle. Note=During mitose associated with the mitotic spindle. At telophase colocalized to the midbody spindle." human Cerebral aneurysm CASC3 22794 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Nucleus speckle. Cytoplasm, Stress granule. Cytoplasm, Cytoplasmic ribonucleoprotein granule. Cell projection, dendrite. Note=Shuttles between the nucleus and the cytoplasm in a XPO1/CRM1-dependent manner. Transported to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA (PubMed:15166247). In nuclear speckles, colocalizes with MAGOH. Under stress conditions, colocalizes with FMR1 and TIA1, but not MAGOH and RBM8A EJC core factors, in cytoplasmic stress granules (PubMed:17652158). In the dendrites of hippocampal neurons, localizes to dendritic ribonucleoprotein granules (By similarity).." human Cerebral aneurysm CASP3 836 intracranial aneurysm wall: increase in protein level| increase in RNA level PMID: 20627011 Cytoplasm. human Cerebral aneurysm CASZ1 54897 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm CAV1 857 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola ; Peripheral membrane protein. Membrane raft. Golgi apparatus, trans-Golgi network. Note=Colocalized with DPP4 in membrane rafts. Potential hairpin-like structure in the membrane. Membrane protein of caveolae." human Cerebral aneurysm CCDC102A 92922 blood: decrease in RNA level| rs12917875 GEO: GSE36791| PMID: 20613766 p<0.05 and FDR<0.05 (GEO)| in ASN population human Cerebral aneurysm CCDC129 223075 rs10243603 PMID: 20613766 in ASN population human Cerebral aneurysm CCDC50 152137 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus.. human Cerebral aneurysm CCL2 6347 aneurysmal wall: increase in RNA level PMID: 26345838 Secreted. human Cerebral aneurysm CCL3 6348 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm CCL4 6351 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm CCND2 894 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Membrane. Note=Cyclin D-CDK4 complexes accumulate at the nuclear membrane and are then translocated into the nucleus through interaction with KIP/CIP family members.. Isoform 2: Cytoplasm. human Cerebral aneurysm CCR7 1236 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm CD163 9332 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Soluble CD163: Secreted. Cell membrane ; Single-pass type I membrane protein. Note=Isoform 1 and isoform 2 show a lower surface expression when expressed in cells. human Cerebral aneurysm CD2 914 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm CD247 919 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm CD27 939 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm CD3D 915 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm CD5 921 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm CD6 923 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type I membrane protein. Note=Detected at the immunological synapse, i.e, at the contact zone between antigen-presenting dendritic cells and T-cells (PubMed:15294938, PubMed:16352806). Colocalizes with the TCR/CD3 complex at the immunological synapse (PubMed:15294938).. Soluble CD6: Secreted. Note=The origins of the secreted form are not clear, but it might be created by proteolytic shedding of the ectodomain.." human Cerebral aneurysm CD7 924 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm CD86 942 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm CD96 10225 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm CDCA3 83461 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytosol." human Cerebral aneurysm CDH11 1009 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm CDH13 1012 rs4519324 PMID: 22961961 in EUR population "Cell membrane; Lipid-anchor, GPI-anchor." human Cerebral aneurysm CDH19 28513 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm CDH2 1000 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type I membrane protein. Cell membrane, sarcolemma. Cell junction. Cell surface. Note=Colocalizes with TMEM65 at the intercalated disk in cardiomyocytes. Colocalizes with OBSCN at the intercalated disk and at sarcolemma in cardiomyocytes.." human Cerebral aneurysm CDKN2A 1029 aneurysm wall: increase in RNA level| NM_000077 GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. human Cerebral aneurysm CDKN2B 1030 NM_004936 Cytoplasm. Note=Also found in the nucleus. human Cerebral aneurysm CDKN2B-AS1 100048912 rs1333040 | rs6475606| rs10757272| rs2383207 PMID: 20395613| PMID: 22961961| PMID: 22286173| PMID: 20364137 familial aneurysm| in EUR population human Cerebral aneurysm CDR2 1039 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm CEBPG 1054 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm CEMIP 57214 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm. Endoplasmic reticulum. Cell membrane. Membrane, clathrin-coated pit. Secreted. Note=Retained in the endoplasmic reticulum (ER) in a HSPA5/BIP-dependent manner. Colocalized with clathrin heavy chain/CLTC in clathrin-coated vesicles. Strongly detected in the cytoplasm of breast carcinoma cells, whereas poorly detected in adjacent normal epithelial cells, stromal cells, or benign breast tissues. Localized in the nucleus and cytoplasm of colon adenocarcinomas." human Cerebral aneurysm CEP68 23177 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to thin fibers protruding away from the proximal ends of the two centrioles. Dissociates from interphase centrosomes at the onset of mitosis.." human Cerebral aneurysm CERS6 253782 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus membrane ; Multi-pass membrane protein. Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm CFD 1675 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm CHN2 1124 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Peripheral membrane protein. human Cerebral aneurysm CHPF2 54480 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein." human Cerebral aneurysm CHRDL1 91851 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm CHRM2 1129 rs10488602 PMID: 22961961 in EUR population "Cell membrane ; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane ; Multi-pass membrane protein. Note=Phosphorylation in response to agonist binding promotes receptor internalization.." human Cerebral aneurysm CHST11 50515 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Golgi apparatus membrane ; Single-pass type II membrane protein. human Cerebral aneurysm CILP 8483 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm CLEC11A 6320 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Secreted. human Cerebral aneurysm CLEC5A 23601 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type II membrane protein. human Cerebral aneurysm CLEC7A 64581 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type II membrane protein. Isoform 5: Cytoplasm. Isoform 6: Cytoplasm. Isoform 7: Cytoplasm. human Cerebral aneurysm CLMN 79789 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type IV membrane protein. human Cerebral aneurysm CLSTN1 22883 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Endoplasmic reticulum membrane ; Single-pass type I membrane protein. Golgi apparatus membrane. Cell projection. Cell junction, synapse, postsynaptic cell membrane ; Single-pass type I membrane protein. Nucleus. Note=Neurite tips. Localized in the postsynaptic membrane of both excitatory and inhibitory synapses (By similarity). The AlcICD fragment is translocated to the nucleus upon interaction with APBB1.." human Cerebral aneurysm CMKLR1 1240 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm CNNM2 54805 rs12413409| rs12411886| rs11191514| NM_199076 PMID: 20364137| PMID: 22286173 in EUR population| in ASN population Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm CNTN4 152330 aneurysm wall: decrease in RNA level| rs9310883 GEO: GSE75436 | PMID: 20613766 p<0.05 and FDR<0.05 (GEO)| in ASN population "Cell membrane; Lipid-anchor, GPI-anchor. Secreted." human Cerebral aneurysm CNTN5 53942 rs2019576 PMID: 20613766 in ASN population "Cell membrane ; Lipid-anchor, GPI-anchor." human Cerebral aneurysm COL11A1 1301 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm COL1A2 1278 "rs42524, NM_000138.4:c.7082C-T, NP_000080.2:p.A549P| rs2621215| aneurysm wall: increase in RNA level" PMID: 14739420| PMID: 19559927| PMID: 19035720| GEO: GSE75436 in Korean population| sporadic aneurysm| in Chinese population| p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm COL28A1 340267 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix, basement membrane." human Cerebral aneurysm COL3A1 1281 "rs1800255, NM_002474.2:c.2005C-T, NP_000081.1:p.A698T| aneurysm wall: increase in RNA level" PMID: 18642782| PMID: 22241462| GEO: GSE75436 sporadic aneurysm| Chinese population| p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm COL4A1 1282 "c.3715G>A, p.G1239R" PMID: 25425218 case report "Secreted, extracellular space, extracellular matrix, basement membrane." human Cerebral aneurysm COL5A1 1289 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm COL5A2 1290 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm CORIN 10699 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type II membrane protein. Note=May easily detached from the endothelial cell membrane. Isoform 2: Cell membrane; Single-pass type II membrane protein. Note=Less efficiently targeted to the cell membrane compared to isoform 1. Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment: Secreted. Note=Soluble form produced following cleavage by ADAM10. Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment: Secreted. Note=Soluble form produced following autocatalytic cleavage. Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment: Secreted. Note=Soluble form produced following autocatalytic cleavage." human Cerebral aneurysm CPA3 1359 aneurysm tissue: decrease in RNA level PMID: 26385002 sporadic aneurysm "Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules." human Cerebral aneurysm CRTC3 64784 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Note=Appears to be mainly nuclear.. human Cerebral aneurysm CSF2 1437 aneurysm lumen: increase in protein level PMID: 25389911 in big aneurysms no healthy control in this test Secreted. human Cerebral aneurysm CSF2RA 1438 aneurysm wall: increase in RNA level| blood: increase in RNA level GEO: GSE75436 | GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. Isoform 3: Secreted. Isoform 4: Secreted. Isoform 6: Secreted. human Cerebral aneurysm CSRP1 1465 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm CST7 8530 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Secreted. Cytoplasm. human Cerebral aneurysm CTBS 1486 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Lysosome. human Cerebral aneurysm CTHRC1 115908 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm CTNNA3 29119 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Note=Localizes to intercalated disks of cardiomyocytes and in peritubular myoid cells of testis, and colocalizes with CTNNA1 and CTNNA2.." human Cerebral aneurysm CTSB 1508 aneurysm wall: increase in protein level| aneurysm wall: increase in RNA level PMID: 20627011| GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV." human Cerebral aneurysm CXCL16 58191 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. Secreted. Note=Also exists as a soluble form. human Cerebral aneurysm CYB561 1534 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Multi-pass membrane protein. human Cerebral aneurysm DAAM2 23500 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm DACT3 147906 rs873286 PMID: 20613766 in ASN population human Cerebral aneurysm DCBLD1 285761 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm DCTD 1635 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm DDX18 8886 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus, nucleolus. Chromosome." human Cerebral aneurysm DENND2D 79961 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm DHFR 1719 c.594 + 59del19bp PMID: 18799873 weak significance Mitochondrion. Cytoplasm. human Cerebral aneurysm DHRS3 9249 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm DHRSX 207063 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. Note=Secreted in a non-classical form. A signal peptide sequence at position 1-31 is predicted. human Cerebral aneurysm DIRC2 84925 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Lysosome membrane ; Multi-pass membrane protein. human Cerebral aneurysm DNAJC12 56521 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Isoform a: Cytoplasm. human Cerebral aneurysm DNMT1 1786 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm DPT 1805 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm DPY19L2 283417 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm DRAM1 55332 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Lysosome membrane ; Multi-pass membrane protein. human Cerebral aneurysm DSP 1832 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network (PubMed:12802069). Localizes at the intercalated disk in cardiomyocytes (By similarity).." human Cerebral aneurysm DST 667 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Cell projection, axon. Note=Associates with intermediate filaments, actin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By similarity). Associated at the growing distal tip of microtubules.. Isoform 1: Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone. Note=Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane.. Isoform 2: Cytoplasm, cytoskeleton. Note=Colocalizes both cortical and cytoplasmic actin filaments.. Isoform 3: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Note=Localizes to actin and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes.. Isoform 6: Nucleus. Nucleus envelope. Membrane ; Single-pass membrane protein. Endoplasmic reticulum membrane ; Single-pass membrane protein. Cytoplasm, cytoskeleton. Note=Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in sensory neurons.. Isoform 7: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons. Isoform 8: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Cell membrane ; Lipid-anchor." human Cerebral aneurysm DUXAP10 503639 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm DYNLL2 140735 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton." human Cerebral aneurysm EDNRA 1909 "rs6841581| rs6842241| rs6841581 | 12q22, 20p12.1| NM_001166055" PMID: 22106312| PMID: 22286173 Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm EFCAB2 84288 rs6429521 PMID: 22961961 in EUR population "Cytoplasm, cytoskeleton, flagellum axoneme." human Cerebral aneurysm EIF4B 1975 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm EIF4E3 317649 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm ELN 2006 G659C| haplotype INT20/INT23| c.608dupC| p.L204Tfs*58| 732dupC| 1315T > C| rs2071307| rs2856728 PMID: 16611674| PMID: 11536080| PMID: 27866049| PMID: 27687579| PMID: 23294012 A allele with higher risk of rupture "Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers.." human Cerebral aneurysm EMD 2010 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus inner membrane ; Single-pass membrane protein; Nucleoplasmic side. Nucleus outer membrane. Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non-farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus." human Cerebral aneurysm ENC1 8507 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus matrix. Cytoplasm. Cytoplasm, cytoskeleton." human Cerebral aneurysm ENG 2022 "NM_000118.3:c.179_180delCCinsAA| rs1800956, NM_003036.3:c.100G-A, NP_000109.1:p.D366H| 6bINS| aneurysm wall: increase in RNA level" PMID: 19299629| PMID: 18440621| PMID: 26559253| GEO: GSE75436 familial aneurysm| p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm ENO1 2023 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cell membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Can translocate to the plasma membrane in either the homodimeric (alpha/alpha) or heterodimeric (alpha/gamma) form. ENO1 is localized to the M line. Isoform MBP-1: Nucleus." human Cerebral aneurysm ENTPD3 956 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm EP400 57634 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm EPHX2 2053 aneurysm wall: decrease in RNA level| blood: decrease in RNA level GEO: GSE75436 | GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Peroxisome. human Cerebral aneurysm EPM2A 7957 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm ERLEC1 27248 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum lumen. human Cerebral aneurysm ERP27 121506 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum lumen. human Cerebral aneurysm ESD 2098 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Cytoplasmic vesicle. human Cerebral aneurysm ESYT1 23344 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane; Peripheral membrane protein. Note=Localizes primarily to the endoplasmic reticulum. Recruited to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. human Cerebral aneurysm ETS1 2113 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. Note=Delocalizes from nucleus to cytoplasm when coexpressed with isoform Ets-1 p27.. human Cerebral aneurysm EVL 51466 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Note=Targeted to the leading edge of lamellipodia and the dital tip of stress fibers through interaction with a number of proteins. In activated T-cells, localizes to the F-actin collar and the distal tip of microspikes.." human Cerebral aneurysm F2 2147 G20210A PMID: 25977387 in thrombophilia patients "Secreted, extracellular space." human Cerebral aneurysm F5 2153 G1691A PMID: 25977387 in thrombophilia patients Secreted. human Cerebral aneurysm FAM102A 399665 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm FAM122A 116224 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm FAM20B 9917 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Golgi apparatus membrane ; Single-pass type II membrane protein. human Cerebral aneurysm FAM49B 51571 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Lipid-anchor. human Cerebral aneurysm FAP 2191 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Prolyl endopeptidase FAP: Cell surface. Cell membrane ; Single-pass type II membrane protein. Cell projection, lamellipodium membrane ; Single-pass type II membrane protein. Cell projection, invadopodium membrane ; Single-pass type II membrane protein. Cell projection, ruffle membrane ; Single-pass type II membrane protein. Membrane ; Single-pass type II membrane protein. Note=Localized on cell surface with lamellipodia and invadopodia membranes and on shed vesicles. Colocalized with DPP4 at invadopodia and lamellipodia membranes of migratory activated endothelial cells in collagenous matrix. Colocalized with DPP4 on endothelial cells of capillary-like microvessels but not large vessels within invasive breast ductal carcinoma. Anchored and enriched preferentially by integrin alpha-3/beta-1 at invadopodia, plasma membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. Localized at plasma and ruffle membranes in a collagen-independent manner. Colocalized with PLAUR preferentially at the cell surface of invadopodia membranes in a cytoskeleton-, integrin- and vitronectin-dependent manner. Concentrated at invadopodia membranes, specialized protrusions of the ventral plasma membrane in a fibrobectin-dependent manner. Colocalizes with extracellular components (ECM), such as collagen fibers and fibronectin.. Antiplasmin-cleaving enzyme FAP, soluble form: Secreted. Note=Found in blood plasma and serum.. Isoform 2: Cytoplasm." human Cerebral aneurysm FAXC 84553 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass membrane protein. human Cerebral aneurysm FBL 2091 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus, nucleolus. Note=Fibrillar region of the nucleolus." human Cerebral aneurysm FBN2 2201 NM_001999.3:c.2260G>A (p.Gly754Ser) ClinVar: 213286 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm FBXO21 23014 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm FBXO31 79791 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm FCER1A 2205 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm FCGR1A 2209 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. Note=Stabilized at the cell membrane through interaction with FCER1G. human Cerebral aneurysm FCGR1B 2210 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm FGD6 55785 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, cytoskeleton." human Cerebral aneurysm FGF13 2258 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell projection, filopodium. Cell projection, growth cone. Cell projection, dendrite. Nucleus. Cytoplasm. Note=Not secreted.. Isoform 1: Nucleus, nucleolus. Isoform 2: Cytoplasm. Nucleus." human Cerebral aneurysm FGF17 8822 rs3176292 PMID: 20613766 in ASN population Secreted. human Cerebral aneurysm FHOD3 80206 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Note=Main part of the protein localizes to actin fibers and the remaining part displays filamentous staining.. Isoform 4: Cytoplasm, myofibril, sarcomere, Z line. Note=Threonine phosphorylation in isoform 4-specific sequence TDTDEEEEVE is required for targeting to myofibrils in cardiomyocytes." human Cerebral aneurysm FIGN 55137 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus matrix. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes to centrosomes throughout mitosis and to the spindle midzone during telophase." human Cerebral aneurysm FLNB 2317 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform 1 is also detected within the Z-lines. Isoform 2: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers. Isoform 3: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers. Isoform 6: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes." human Cerebral aneurysm FLNC 2318 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Membrane ; Peripheral membrane protein. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=A small amount localizes at membranes. In striated muscle cells, it predominantly localizes in myofibrillar Z lines, while a minor fraction localizes with subsarcolemme. Targeting to developing and mature Z lines is mediated by the intradomain insert." human Cerebral aneurysm FLT3LG 2323 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. human Cerebral aneurysm FNBP4 23360 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm FNDC1 84624 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm FOXF2 2295 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm FREM1 158326 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localizes at the basement membrane zone of embryonic epidermis and hair follicles.." human Cerebral aneurysm FSTL4 23105 rs113816216 PMID: 24497844 Secreted. human Cerebral aneurysm FXR1 8087 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm GALNT1 2589 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Polypeptide N-acetylgalactosaminyltransferase 1: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Polypeptide N-acetylgalactosaminyltransferase 1 soluble form: Secreted." human Cerebral aneurysm GALNT10 55568 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Golgi apparatus membrane ; Single-pass type II membrane protein. human Cerebral aneurysm GALNT14 79623 rs10165977 PMID: 22961961 in EUR population Golgi apparatus membrane ; Single-pass type II membrane protein. human Cerebral aneurysm GALNT5 11227 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Golgi apparatus membrane ; Single-pass type II membrane protein. human Cerebral aneurysm GAMT 2593 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm GARNL3 84253 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm GATA2 2624 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm GFRA3 2676 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane; Lipid-anchor, GPI-anchor." human Cerebral aneurysm GIMAP5 55340 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Mitochondrion outer membrane ; Single-pass type IV membrane protein. Lysosome. human Cerebral aneurysm GKAP1 80318 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Golgi apparatus. human Cerebral aneurysm GLDN 342035 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type II membrane protein. Cell projection, axon. Note=Detected at the nodes of Ranvier. Detected at immature heminodes.. Gliomedin shedded ectodomain: Secreted. Secreted, extracellular space, extracellular matrix. Note=Proteolytic processing gives rise to a soluble extracellular domain that is secreted. The gliomedin shedded ectodomain localizes to the nodes of Ranvier.." human Cerebral aneurysm GLIS3 169792 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm GOLGA2P5 55592 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Golgi apparatus. human Cerebral aneurysm GPC3 2719 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Lipid-anchor, GPI-anchor ; Extracellular side. Secreted glypican-3: Secreted, extracellular space." human Cerebral aneurysm GPD1L 23171 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Note=Localized to the region of the plasma membrane. human Cerebral aneurysm GPIHBP1 338328 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Apical cell membrane ; Lipid-anchor, GPI-anchor. Basolateral cell membrane ; Lipid-anchor, GPI-anchor. Cell membrane ; Peripheral membrane protein ; Extracellular side." human Cerebral aneurysm GPR18 2841 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. Cytoplasmic vesicle membrane. human Cerebral aneurysm GPR65 8477 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm GPR84 53831 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm GPSM3 63940 rs204991 PMID: 22286173 in ASN population Cytoplasm. human Cerebral aneurysm GPX8 493869 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass membrane protein. human Cerebral aneurysm GYG1 2992 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm GYS2 2998 rs10841843 PMID: 22961961 in EUR population human Cerebral aneurysm GZMM 3004 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Secreted. Cytoplasmic granule. Note=Granules of large granular lymphocytes. human Cerebral aneurysm H3F3A 3020 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Extracellular region or secreted. Nucleus. human Cerebral aneurysm H3F3B 3021 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm HABP4 22927 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm. Cytoplasm, Stress granule. Cytoplasm, sarcoplasm. Nucleus, Nuclear body. Nucleus, nucleolus. Nucleus speckle. Nucleus, Cajal body. Nucleus, gem. Note=Transported into the nuclear compartment in activated leukocytes (PubMed:9523163). Inhibition of methylation alters its distribution between the nuclear and cytoplasmic compartments (PubMed:16879614, PubMed:19523114). Methylation may be required for its localization in subnuclear structures, such as nucleoli, nuclear speckles, Cajal bodies and Gemini of coiled bodies (gems) (PubMed:19523114). Colocalizes with FMR1, FXR1 and FXR2 in cytoplasmic stress granules (PubMed:21771594). In myocardial cells, localization at the sarcoplasm is reduced in response to mechanical stress (By similarity).." human Cerebral aneurysm HADH 3033 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion matrix. human Cerebral aneurysm HAVCR2 84868 CD4+/CD8+ T cells: decrease in protein level| decrease in RNA level| aneurysm wall: increase in RNA level PMID: 25342285| GEO: GSE75436 in CD4+ and CD8+ T cells| p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. Cell junction. Note=Localizes to the immunological synapse between CD8+ T-cells and target cells.. human Cerebral aneurysm HBB 3043 SS genotype PMID: 27301940 in sickle-cell disease patients human Cerebral aneurysm HERC2P3 283755 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm HGF 3082 blood: increase in protein level PMID: 25510828 human Cerebral aneurysm HIST2H2AA3 8337 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. Chromosome human Cerebral aneurysm HIST2H2AC 8338 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. Chromosome. human Cerebral aneurysm HIVEP3 59269 rs1815257 PMID: 22286173 in ASN population Cytoplasm. Nucleus. human Cerebral aneurysm HK2 3099 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in membrane binding.. human Cerebral aneurysm HK3 3101 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm HMGA2 8091 rs11175936 PMID: 22961961 in EUR population Nucleus. human Cerebral aneurysm HMGB1 3146 aneurysm tissue: increase in RNA level PMID: 26466586 progress and prognosis (rupture) "Nucleus. Chromosome. Cytoplasm. Secreted. Cell membrane ; Peripheral membrane protein ; Extracellular side. Endosome. Endoplasmic reticulum-Golgi intermediate compartment. Note=In basal state predominantly nuclear. Shuttles between the cytoplasm and the nucleus (PubMed:12231511, PubMed:17114460). Translocates from the nucleus to the cytoplasm upon autophagy stimulation (PubMed:20819940). Release from macrophages in the extracellular milieu requires the activation of NLRC4 or NLRP3 inflammasomes (By similarity). Passively released to the extracellular milieu from necrotic cells by diffusion, involving the fully reduced HGMB1 which subsequently gets oxidized (PubMed:19811284). Also released from apoptotic cells (PubMed:16855214, PubMed:18631454). Active secretion from a variety of immune and non-immune cells such as macrophages, monocytes, neutrophils, dendritic cells and natural killer cells in response to various stimuli such as LPS and cytokines involves a nonconventional secretory process via secretory lysosomes (PubMed:12231511, PubMed:14532127, PubMed:15944249). Secreted by plasma cells in response to LPS (By similarity). Found on the surface of activated platelets (PubMed:11154118). An increased chromatin association is observed when associated with the adenovirus protein pVII (PubMed:27362237).." human Cerebral aneurysm HMGN1 3150 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Note=Cytoplasmic enrichment upon phosphorylation. The RNA edited version localizes to the nucleus. human Cerebral aneurysm HMOX1 3162 n(GT) >36 PMID: 16455537 Microsome. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side. human Cerebral aneurysm HOXD3 3232 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm HOXD4 3233 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm HOXD8 3234 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm HSPA8 3312 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Melanosome. Nucleus, nucleolus. Cell membrane. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Translocates rapidly from the cytoplasm to the nuclei, and especially to the nucleoli, upon heat shock." human Cerebral aneurysm HSPG2 3339 rs3767137 PMID: 19506372 in Dutch and Japanese combined populations; in Dutch population "Secreted, extracellular space, extracellular matrix, basement membrane." human Cerebral aneurysm ICAM1 3383 aneurysmal wall: increase in RNA level PMID: 26345838 Membrane; Single-pass type I membrane protein. human Cerebral aneurysm ID3 3399 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm IFFO1 25900 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm IFI6 2537 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm IFNG 3458 rs2069718 PMID: 26198819 initial event in the pathogenesis Secreted. human Cerebral aneurysm IFNLR1 163702 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm IGSF1 3547 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Isoform 1: Membrane ; Multi-pass membrane protein. Isoform 2: Membrane ; Multi-pass membrane protein. Isoform 3: Secreted. human Cerebral aneurysm IL10 3586 rs1800871| rs1800872 PMID: 26198819 Secreted. human Cerebral aneurysm IL10RB 3588 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm IL12A-AS1 101928376 rs568408 | rs2243115 PMID: 23065210 human Cerebral aneurysm IL12B 3593 rs3212227 PMID: 23065210 Secreted. human Cerebral aneurysm IL17RB 55540 rs1043261 PMID: 22286173 in ASN population Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. human Cerebral aneurysm IL18RAP 8807 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm IL21R 50615 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm IL2RB 3560 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm IL6 3569 rs1800796| -572G>C| -174G>C PMID: 22686131| PMID: 18487018| PMID: 16648144| PMID: 23993981 in Chinese population|in Asian population; in Caucasian population Secreted. human Cerebral aneurysm IP6K3 117283 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm IRAK3 11213 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm IRF2BPL 64207 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm ISG15 9636 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Secreted. Note=Exists in three distinct states: free within the cell, released into the extracellular space, or conjugated to target proteins." human Cerebral aneurysm ITGA7 3679 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm ITGB3 3690 aneurysm tissue: increase in RNA level PMID: 26385002 sporadic aneurysm "Cell membrane ; Single-pass type I membrane protein. Cell projection, lamellipodium membrane. Cell junction, focal adhesion." human Cerebral aneurysm ITIH3 3699 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm ITIH4 3700 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm ITK 3702 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after receptor stimulation. human Cerebral aneurysm ITPR3 3710 rs4711332 PMID: 20613766 in ASN population Endoplasmic reticulum membrane; Multi-pass membrane protein. human Cerebral aneurysm JDP2 122953 rs175646 | rs741846| rs8215 PMID: 20452405 in Japanese population Nucleus. human Cerebral aneurysm JTB 10899 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Membrane ; Single-pass type I membrane protein. Mitochondrion. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Detected at the centrosome and along spindle fibers during prophase and metaphase. Detected at the midbody during telophase." human Cerebral aneurysm KCNA5 3741 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm KDELR2 11014 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane; Multi-pass membrane protein. human Cerebral aneurysm KDELR3 11015 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane; Multi-pass membrane protein. human Cerebral aneurysm KHDRBS3 10656 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Note=Localized in a compartment adjacent to the nucleolus, but distinct from the peri-nucleolar one." human Cerebral aneurysm KIF1B 23095 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasmic vesicle. Cytoplasm, cytoskeleton. Mitochondrion. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons.." human Cerebral aneurysm KLF12 11278 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm KLF5 688 aneurysm tissue: increase in protein level PMID: 22120375 Nucleus. human Cerebral aneurysm KLHL6 89857 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm KLK4 9622 rs1722561 PMID: 24405067 sporadic aneurysm| in Chinese population (Kallikrein) protective Secreted. human Cerebral aneurysm KLK8 11202 rs1722561 | rs1701946 PMID: 17761919 "in Finnish population, Russian population " Secreted. Cytoplasm. Note=Shows a cytoplasmic distribution in the keratinocytes. human Cerebral aneurysm KLRB1 3820 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type II membrane protein. human Cerebral aneurysm KMO 8564 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Mitochondrion outer membrane {ECO:0000255|HAMAP-Rule:MF_03018, ECO:0000269|PubMed:9237672}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03018, ECO:0000269|PubMed:9237672}." human Cerebral aneurysm LAGE3 8270 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. human Cerebral aneurysm LAMA1 284217 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component." human Cerebral aneurysm LAMB2 3913 aneurysm tissue: decrease in RNA level PMID: 26385002 sporadic aneurysm "Secreted, extracellular space, extracellular matrix, basement membrane. Note=S-laminin is concentrated in the synaptic cleft of the neuromuscular junction." human Cerebral aneurysm LAMP5 24141 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type I membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane ; Single-pass type I membrane protein. Endosome membrane ; Single-pass type I membrane protein. Cytoplasmic vesicle membrane ; Single-pass type I membrane protein. Cell projection, dendrite. Cell projection, growth cone membrane ; Single-pass type I membrane protein. Early endosome membrane ; Single-pass type I membrane protein. Recycling endosome. Note=Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (By similarity). Colocalizes with UNC93B1 in large endosomal intracellular vesicles (PubMed:21642595). Accumulates in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides (PubMed:21642595). Associates with cortical membranes (PubMed:21642595). Localizes mostly in cytoplasmic vesicles of neuronal cell body (By similarity). Localizes to synaptic vesicles in a subset of GABAergic neurons (By similarity).." human Cerebral aneurysm LARGE1 9215 rs7287710 PMID: 22961961 in EUR population Golgi apparatus membrane; Single-pass type II membrane protein. human Cerebral aneurysm LAT2 7462 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type III membrane protein. Note=Present in lipid rafts. human Cerebral aneurysm LAX1 54900 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type III membrane protein. human Cerebral aneurysm LDOC1 23641 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm LEF1 51176 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. Note=Found in nuclear bodies upon PIASG binding.. human Cerebral aneurysm LGMN 5641 aneurysm wall: increase in RNA level| blood: decrease in RNA level GEO: GSE75436 | GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Lysosome. human Cerebral aneurysm LHFPL2 10184 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm LILRA6 79168 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm LIMK1 3984 haplotype: ELN +502A insertion+ LIMK1 C-187T| rs6460071 PMID: 16611674| PMID: 21228795 "Cytoplasm. Nucleus. Cell projection, lamellipodium. Note=Predominantly found in the cytoplasm. Localizes in the lamellipodium in a CDC42BPA, CDC42BPB and FAM89B/LRAP25-dependent manner.." human Cerebral aneurysm LINC00929 503519 rs693798 PMID: 20613766 in ASN population human Cerebral aneurysm LINC00982 440556 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm LINC01060 401164 rs7666129 PMID: 22961961 in EUR population human Cerebral aneurysm LMOD1 25802 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton. Note=Colocalizes with actin filaments in sarcomeres.." human Cerebral aneurysm LOX 4015 rs763497| rs3900446 | rs2303656| aneurysm wall: increase in RNA level PMID: 28792146| GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted. Secreted, extracellular space." human Cerebral aneurysm LOXL2 4017 "rs1010156, NM_002318.2:c.939G-A, NP_002309.1:p.S313S| c.C133T " PMID: 17287949| PMID: 29107163 "Secreted, extracellular space, extracellular matrix, basement membrane. Nucleus. Chromosome. Endoplasmic reticulum. Note=Associated with chromatin (PubMed:27735137). It is unclear how LOXL2 is nuclear as it contains a signal sequence and has been shown to be secreted (PubMed:23319596). However, a number of reports confirm its intracellular location and its key role in transcription regulation (PubMed:22204712, PubMed:22483618).." human Cerebral aneurysm LOXL3 84695 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space. Cytoplasm. Nucleus. Note=It is unclear how LOXL3 is both intracellular (cytoplasmic and nuclear) and extracellular: it contains a clear signal sequence and is predicted to localize in the extracellular medium. However, the intracellular location is clearly reported and at least another protein of the family (LOXL2) also has intracellular and extracellular localization despite the presence of a signal sequence (PubMed:28065600).. Isoform 1: Secreted, extracellular space. Isoform 2: Cytoplasm. Secreted, extracellular space." human Cerebral aneurysm LPAR1 1902 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell surface. Cell membrane ; Multi-pass membrane protein. Endosome. Note=Prior to LPA treatment found predominantly at the cell surface. Internalized after LPA treatment. Colocalizes with RALA in endocytic vesicles after LPA treatment.. human Cerebral aneurysm LPAR5 57121 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm LPIN1 23175 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus membrane. Cytoplasm, cytosol. Endoplasmic reticulum membrane." human Cerebral aneurysm LRIG1 26018 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm LRRC10B 390205 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm LRRC6 23639 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cell projection, cilium." human Cerebral aneurysm LXN 56925 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm LY86 9450 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space. Note=Associated with CD180 at the cell surface." human Cerebral aneurysm LYPD6 130574 rs74972714 PMID: 24497844 "Secreted. Cytoplasm. Cell membrane ; Lipid-anchor, GPI-anchor. Cell junction, synapse, synaptosome. Membrane raft." human Cerebral aneurysm MAGED1 9500 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Cell membrane ; Peripheral membrane protein. Nucleus. Note=Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF.. human Cerebral aneurysm MAOA 4128 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. human Cerebral aneurysm MAP4K1 11184 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm MAPK14 1432 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. human Cerebral aneurysm MARK1 4139 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Peripheral membrane protein. Cytoplasm, cytoskeleton. Cytoplasm. Cell projection, dendrite. Note=Appears to localize to an intracellular network.." human Cerebral aneurysm MBTPS1 8720 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Endoplasmic reticulum membrane ; Single-pass type I membrane protein. Golgi apparatus membrane ; Single-pass type I membrane protein. Note=May sort to other organelles, including lysosomal and/or endosomal compartments." human Cerebral aneurysm MDC1 9656 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus. Chromosome. Note=Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AFX. Colocalizes with APTX at sites of DNA double-strand breaks." human Cerebral aneurysm MDS2 259283 rs1317329 PMID: 20613766 in ASN population human Cerebral aneurysm MEIS1 4211 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm MEOX1 4222 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Note=Localizes predominantly in the nucleus.. human Cerebral aneurysm MESD 23184 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum. Note=Released from apoptotic cells and shed photoreceptor outer segments.. human Cerebral aneurysm METTL9 51108 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm MFAP4 4239 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm MFSD1 64747 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm MIR146A 406938 rs2910164 PMID: 26214448 human Cerebral aneurysm MIR16 51573 blood: increase in RNA level PMID: 25249297 human Cerebral aneurysm MIR25 407014 blood: increase in RNA level PMID: 25249297 human Cerebral aneurysm MIR29A 407021 blood: increase in RNA level PMID: 27084222 potential biomarker for progress and prognosis human Cerebral aneurysm MIR34B 407041 "rs4938723| The CC genotype of miR-34b/c rs4938723 was significantly associated with a decreased risk of IA compared with the TT genotype. Moreover, a significant gene interaction of the carriers with the combined genotypes of miR-34b/c rs4938723CC and TP53 Arg72Pro CG/CC/GG had a decreased risk of IA, compared with those carrying miR-34b/c rs4938723CT/TT+TP53 Arg72Pro GG/CG/CC combined genotypes." PMID: 22844323 human Cerebral aneurysm MIR34C 407042 "rs4938723| The CC genotype of miR-34b/c rs4938723 was significantly associated with a decreased risk of IA compared with the TT genotype. Moreover, a significant gene interaction of the carriers with the combined genotypes of miR-34b/c rs4938723CC and TP53 Arg72Pro CG/CC/GG had a decreased risk of IA, compared with those carrying miR-34b/c rs4938723CT/TT+TP53 Arg72Pro GG/CG/CC combined genotypes" PMID: 22844323 human Cerebral aneurysm MIR4738 100616282 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm MIR6787 102465472 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm MIR6866 102466986 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm MMP2 4313 aneurysm tissue: increase in protein level| rs243865 | rs243847 PMID: 16987162| PMID: 21228795 weak significance "Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Isoform 2: Cytoplasm. Mitochondrion." human Cerebral aneurysm MMP9 4318 aneurysm tissue: increase in protein level| 7476 C>T| 1977 C>T PMID: 16987162| PMID: 16961137 "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm MPO 4353 plasma: increase in protein level| aneurysm tissue: increase in protein level PMID: 25922506| PMID: 24713525 no healthy control in this test with higher risk of rupture Lysosome. human Cerebral aneurysm MPP7 143098 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Membrane; Peripheral membrane protein. Cell junction, tight junction. Cell junction, adherens junction." human Cerebral aneurysm MPZ 4359 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. Isoform L-MPZ: Myelin membrane ; Single-pass type I membrane protein. human Cerebral aneurysm MS4A7 58475 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Multi-pass membrane protein. human Cerebral aneurysm MSR1 4481 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type II membrane protein. human Cerebral aneurysm MUSTN1 389125 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm MXI1 4601 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm MYL2 4633 aneurysm tissue: decrease in RNA level PMID: 26385002 sporadic aneurysm "Cytoplasm, myofibril, sarcomere, A band." human Cerebral aneurysm MYO3A 53904 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Cytoplasm. Cell projection, filopodium tip. Cell projection, stereocilium. Note=Increased localization at the filodium tip seen in the presence of MORN4.." human Cerebral aneurysm MYOC 4653 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted. Golgi apparatus. Cytoplasmic vesicle. Secreted, extracellular space. Secreted, extracellular space, extracellular matrix. Secreted, exosome. Mitochondrion. Mitochondrion intermembrane space. Mitochondrion inner membrane. Mitochondrion outer membrane. Rough endoplasmic reticulum. Cell projection. Cell projection, cilium. Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum (PubMed:9169133). It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541). Localizes to the Golgi apparatus in Schlemm's canal endothelial cells (PubMed:11053284). Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158). Localizes in trabecular meshwork extracellular matrix (PubMed:15944158).. Myocilin, C-terminal fragment: Secreted. Myocilin, N-terminal fragment: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum." human Cerebral aneurysm MYOT 9499 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Sarcomeric, also localized to the sarcolemma (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904).." human Cerebral aneurysm MYRIP 25924 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, perinuclear region. Cytoplasmic vesicle, secretory vesicle. Note=In presynaptic and postsynaptic areas in photoreceptor cells and in the basal microvilli of retinal pigment epithelium cells. Associated with melanosomes. Colocalizes with actin filaments.." human Cerebral aneurysm NAALAD2 10003 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type II membrane protein. human Cerebral aneurysm NAPSB 256236 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm NAT1 9 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm NAV1 89796 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Note=Associates with a subset of microtubule plus ends. Enriched in neuronal growth cones (By similarity).." human Cerebral aneurysm NCR3 259197 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm NEFH 4744 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm NELL2 4753 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm NETO2 81831 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm NFASC 23114 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm NFIB 4781 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm NFKB1 4790 aneurysmal wall: increase in RNA level| -94ins/del ATTG PMID: 26345838| PMID: 23675986 "Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B)." human Cerebral aneurysm NGEF 25791 rs809017 PMID: 22286173 in ASN population "Cytoplasm. Membrane. Cell projection, growth cone. Note=Associated with membranes. Localizes to axonal growth cones (By similarity).." human Cerebral aneurysm NINJ2 4815 rs1468624 PMID: 20613766 in ASN population Membrane; Multi-pass membrane protein. human Cerebral aneurysm NLRC3 197358 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm NOP53 29997 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus, nucleolus. Nucleus, nucleoplasm. Note=In the nucleolus may be more specifically localized to the fibrillar center (PubMed:27729611). Mainly nucleolar it relocalizes to the nucleoplasm under specific conditions including ribosomal stress enabling it to interact and regulate nucleoplasmic proteins like p53/TP53 (PubMed:22522597, PubMed:24923447, PubMed:27323397, PubMed:26903295). Also detected in the cytosol (PubMed:24923447, PubMed:27824081).." human Cerebral aneurysm NOS3 4846 EX7 G894T | INT 4 27 VNTR| T786C| INT4 27 VNTR PMID: 18046500| PMID: 15796389| PMID: 15091109 progress and prognosis (rupture) "Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity." human Cerebral aneurysm NPC2 10577 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. Endoplasmic reticulum. Lysosome. human Cerebral aneurysm NPR1 4881 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Single-pass type I membrane protein. human Cerebral aneurysm NPY1R 4886 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm NPY5R 4889 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm NR2F1-AS1 441094 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm NR3C2 4306 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Cytoplasmic and nuclear in the absence of ligand; nuclear after ligand-binding. When bound to HSD11B2, it is found associated with the endoplasmic reticulum membrane." human Cerebral aneurysm NRIP2 83714 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm NRXN3 9369 rs8013671 PMID: 20613766 in ASN population Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm NUDT7 283927 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Peroxisome. human Cerebral aneurysm OLR1 4973 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Lipid-anchor. Cell membrane; Single-pass type II membrane protein. Membrane raft. Secreted. Note=A secreted form also exists. Localization to membrane rafts requires palmitoylation. human Cerebral aneurysm OSBPL3 26031 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Endoplasmic reticulum membrane ; Peripheral membrane protein. Cytoplasm, cytosol. Cell membrane ; Peripheral membrane protein. Cell projection, filopodium tip. Nucleus membrane ; Peripheral membrane protein." human Cerebral aneurysm OSBPL8 114882 rs4482071 PMID: 20613766 in ASN population Isoform 1: Endoplasmic reticulum membrane ; Single-pass membrane protein. Nucleus membrane. Note=The presence of the N-terminus extension contains an overall negative charge that may explain the weak localization to the cortical endoplasmic reticulum (Probable).. Isoform 3: Endoplasmic reticulum membrane ; Single-pass membrane protein. Note=Localizes to the cortical endoplasmic reticulum at the endoplasmic reticulum-plasma membrane contact sites.. human Cerebral aneurysm P2RX1 5023 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Multi-pass membrane protein. human Cerebral aneurysm PADI4 23569 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils and neutrophils. human Cerebral aneurysm PAFAH2 5051 rs2275101 PMID: 20613766 in ASN population "Cytoplasm. Membrane ; Lipid-anchor. Endoplasmic reticulum membrane ; Lipid-anchor. Note=In resting cells, localizes to intracellular membranes and cytoplasm. Translocates from the cytoplasm to intracellular membranes upon oxidative stress.." human Cerebral aneurysm PAIP2B 400961 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PAPSS1 9061 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PAPSS2 9060 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PCED1B 91523 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PCP4 5121 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PDE4C 5143 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell projection, cilium." human Cerebral aneurysm PDGFB 5155 rs5750781 PMID: 22286173 in ASN population Secreted. Note=Released by platelets upon wounding. human Cerebral aneurysm PDGFD 80310 DNA methylation of the promoter PMID: 28346846 DNA methylation of PDGFD gene promoter shows significant correlation with the risk of developing cerebral aneurysm Secreted. Note=Released by platelets upon wounding. human Cerebral aneurysm PDZRN4 29951 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PEBP1 5037 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm PGD 5226 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm PGM2L1 283209 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PGM5 5239 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell junction, adherens junction. Cytoplasm, cytoskeleton. Note=Adherens-type cellular junctions. Concentrated in focal contacts at the ends of actin bundles, and associated with actin filaments." human Cerebral aneurysm PGM5-AS1 572558 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PHGDH 26227 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PIKFYVE 200576 rs11678092 PMID: 22961961 in EUR population Endosome membrane. Note=Mainly associated with membranes of the late endocytic pathway. human Cerebral aneurysm PKD1 5310 missense mutation PMID: 27567292 familial aneurysm "Cell membrane ; Multi-pass membrane protein. Cell projection, cilium. Note=PKD1 localization to the plasma and ciliary membranes requires PKD2, is independent of PKD2 channel activity, and involves stimulation of PKD1 autoproteolytic cleavage at the GPS domain (By similarity). Ciliary localization of PKD1 requires BBS1 and ARL6/BBS3 (By similarity). Cell surface localization requires GANAB (PubMed:27259053).." human Cerebral aneurysm PKD2 5311 p.Q924X PMID: 27567292 familial aneurysm "Cell projection, cilium membrane ; Multi-pass membrane protein. Endoplasmic reticulum membrane ; Multi-pass membrane protein. Cell membrane ; Multi-pass membrane protein. Basolateral cell membrane. Cytoplasmic vesicle membrane. Note=Retained in the endoplasmic reticulum by interaction with PACS1 and PACS2 (PubMed:15692563). Detected on kidney tubule basolateral membranes and basal cytoplasmic vesicles (PubMed:10770959). Cell surface and cilium localization requires GANAB (PubMed:27259053).." human Cerebral aneurysm PLCB4 5332 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PLCL1 5334 NM_006226 Cytoplasm. human Cerebral aneurysm PLEK2 26499 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton." human Cerebral aneurysm PLOD1 5351 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. human Cerebral aneurysm PLXDC2 84898 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm PLXNA2 5362 rs556625 PMID: 22286173 in ASN population Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm PON2 5445 rs10259688 PMID: 22286173 in ASN population Membrane ; Peripheral membrane protein. human Cerebral aneurysm POSTN 10631 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Golgi apparatus. Secreted. Secreted, extracellular space, extracellular matrix. Note=Colocalizes with BMP1 in the Golgi.." human Cerebral aneurysm PPIB 5479 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).. human Cerebral aneurysm PPL 5493 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell junction, desmosome. Cytoplasm, cytoskeleton. Cell membrane. Nucleus. Mitochondrion. Note=Associated with desmosomes and intermediate filaments." human Cerebral aneurysm PPP1R12B 4660 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Note=Along actomyosin filaments and stress fibers. human Cerebral aneurysm PPP1R1A 5502 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PPP1R9A 55607 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Cell junction, synapse, synaptosome." human Cerebral aneurysm PPP2R5A 5525 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus. Chromosome, centromere. Note=From mitotic prophase to metaphase, localizes at the inner centromere between a pair of sister kinetochores. Decreased expression at the onset of anaphase.." human Cerebral aneurysm PRDX4 10549 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Endoplasmic reticulum. Note=Cotranslationally translocated to and retained within the endoplasmic reticulum. A small fraction of the protein is cytoplasmic.. human Cerebral aneurysm PRIMA1 145270 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type I membrane protein. Cell junction. Cell junction, synapse. Note=In the brain, PRIMA linked to ACHE is found in membrane rafts.." human Cerebral aneurysm PRKCH 5583 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm PRKCQ 5588 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cell membrane; Peripheral membrane protein. Note=In resting T-cells, mostly localized in cytoplasm. In response to TCR stimulation, associates with lipid rafts and then localizes in the immunological synapse." human Cerebral aneurysm PRRX1 5396 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm PSIP1 11168 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Note=Remains chromatin-associated throughout the cell cycle. human Cerebral aneurysm PTGER3 5733 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm PTK7 5754 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. Cell junction. Note=Colocalizes with MMP14 at cell junctions. Also localizes at the leading edge of migrating cells. human Cerebral aneurysm PTPN22 26191 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm PTRHD1 391356 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm PUS1 80324 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Isoform 1: Mitochondrion. Isoform 2: Nucleus. human Cerebral aneurysm PVRIG 79037 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm PYCR1 5831 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Mitochondrion. human Cerebral aneurysm RAB31 11031 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Golgi apparatus, trans-Golgi network. Golgi apparatus, trans-Golgi network membrane ; Lipid-anchor ; Cytoplasmic side. Early endosome. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane ; Lipid-anchor ; Cytoplasmic side. Note=Rapidly recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211).." human Cerebral aneurysm RAB32 10981 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Mitochondrion. Mitochondrion outer membrane ; Lipid-anchor. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane ; Lipid-anchor ; Cytoplasmic side. Melanosome. Melanosome membrane. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). The BLOC-3 complex, a heterodimer of HPS1 and HPS4 promotes its membrane localization (PubMed:23084991).." human Cerebral aneurysm RAB9B 51209 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Lipid-anchor ; Cytoplasmic side. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane ; Lipid-anchor ; Cytoplasmic side. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis." human Cerebral aneurysm RADIL 55698 rs150927513 PMID: 24497844 human Cerebral aneurysm RASL12 51285 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RBBP8 5932 NM_203291 "Nucleus. Chromosome. Note=Associates with sites of DNA damage in S/G2 phase (PubMed:10764811, PubMed:25349192). Ubiquitinated RBBP8 binds to chromatin following DNA damage (PubMed:16818604).." human Cerebral aneurysm RBM47 54502 rs278962 PMID: 20613766 in ASN population Nucleus. human Cerebral aneurysm RBP1 5947 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Lipid droplet. human Cerebral aneurysm RBPMS 11030 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm. Cytoplasm, P-body. Note=Translocates into cytoplasmic stress granules that probably correspond to P-bodies in response to oxidative stress.." human Cerebral aneurysm RBPMS2 348093 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm RCC2 55920 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus, nucleolus. Chromosome, centromere. Cytoplasm, cytoskeleton, spindle. Note=Appears in the nucleus at G2, then concentrates at the inner centromere region of chromosomes during prophase. Redistributes to the midzone of the mitotic spindle during anaphase. Here, the protein covers the entire equatorial diameter from cortex to cortex." human Cerebral aneurysm RERGL 79785 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RFC1 5981 c.80G>A PMID: 18799873 weak significance Nucleus. human Cerebral aneurysm RFTN1 23180 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Lipid-anchor. Cytoplasm. Membrane raft. Endosome. Early endosome. Note=Translocates from cytoplasm to cell membrane where it colocalizes with poly (I:C) and then moves to endosomes where it colocalizes with TLR3 (PubMed:21266579). Translocates from cytoplasm to cell membrane where it colocalizes with TLR4 and then together with TLR4 moves to endosomes, upon lipopolysaccharide stimulation (PubMed:27022195).." human Cerebral aneurysm RGS4 5999 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RGS6 9628 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, cytosol. Membrane ; Peripheral membrane protein. Nucleus. Cell membrane. Note=Interaction with GNB5 mediates translocation to the nucleus.." human Cerebral aneurysm RHBG 57127 rs872120 PMID: 22961961 in EUR population Basolateral cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. human Cerebral aneurysm RIMKLB 57494 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm RNF135 84282 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm RNF145 153830 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm RNF150 57484 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm RNF213 57674 p.Arg2438Cys| p.Ala2826Thr| rs6565666 PMID: 27745834 in french-canadian population "Cytoplasm, cytosol." human Cerebral aneurysm RNMT 8731 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm RPL15 6138 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Lipid-anchor. human Cerebral aneurysm RPL19 6143 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RPL22 6146 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RPLP2 6181 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RPS20 6224 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm RPS4X 6191 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. human Cerebral aneurysm RPUSD2 27079 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm RUNX1T1 862 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Note=Colocalizes with ATN1 in discrete nuclear dots. human Cerebral aneurysm RUNX3 864 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Note=The tyrosine phosphorylated form localizes to the cytoplasm. Translocates from the cytoplasm to the nucleus following TGF-beta stimulation.. human Cerebral aneurysm RYR2 6262 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Sarcoplasmic reticulum membrane ; Multi-pass membrane protein. Membrane ; Multi-pass membrane protein. Sarcoplasmic reticulum. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.." human Cerebral aneurysm S100A8 6279 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Secreted. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Note=Predominantly localized in the cytoplasm. Upon elevation of the intracellular calcium level, translocated from the cytoplasm to the cytoskeleton and the cell membrane. Upon neutrophil activation or endothelial adhesion of monocytes, is secreted via a microtubule-mediated, alternative pathway." human Cerebral aneurysm SAE1 10055 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm SAMD3 154075 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm SAMD9 54809 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm SAMD9L 219285 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Early endosome. human Cerebral aneurysm SAP30BP 29115 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm SARNP 84324 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Nucleus speckle. human Cerebral aneurysm SBSPON 157869 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm SCG5 6447 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. Note=Neuroendocrine and endocrine secretory granules. human Cerebral aneurysm SCN7A 6332 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm SDK1 221935 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type I membrane protein. Cell junction, synapse." human Cerebral aneurysm SDSL 113675 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm SEC23B 10483 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasmic vesicle, COPII-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side. Cytoplasm, cytosol." human Cerebral aneurysm SELE 6401 aneurysm tissue: increase in protein level PMID: 22030423 Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm SEMA6B 10501 rs10408176 PMID: 22961961 in EUR population Cell membrane; Single-pass type I membrane protein. human Cerebral aneurysm SERPINA3 12 rs4934 PMID: 19907165 in Polish population Secreted. human Cerebral aneurysm SERPINE1 5054 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm SFRP2 6423 aneurysm tissue: increase in RNA level PMID: 26385002 sporadic aneurysm Secreted. human Cerebral aneurysm SGPL1 8879 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Single-pass type III membrane protein. human Cerebral aneurysm SH2D1A 4068 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm SH3BGR 6450 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm SH3KBP1 30011 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Cell junction, focal adhesion. Note=Localized in endocytic vesicles containing clustered receptors. Colocalizes with ASAP1 in vesicular structures. Colocalized with actin microfilaments and focal adhesions (By similarity). Colocalized with MAGI2 in synaptosomes. Translocation to EGFR containing vesicles upon EGF stimulation is inhibited in the presence of SH3KBP1 (By similarity). Colocalizes with ZFP36 in the cytoplasm (PubMed:20221403).." human Cerebral aneurysm SH3TC2 79628 rs36077 PMID: 22961961 in EUR population human Cerebral aneurysm SHISAL1 85352 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm SHISAL2A 348378 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Integral component of membrane. human Cerebral aneurysm SHOX2 6474 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm SIGLEC10 89790 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Cell membrane; Single-pass type I membrane protein. Isoform 3: Cell membrane; Single-pass type I membrane protein. Isoform 4: Cell membrane; Single-pass type I membrane protein. Isoform 5: Secreted. human Cerebral aneurysm SIM1 6492 rs3798502 PMID: 20613766 in ASN population Nucleus. human Cerebral aneurysm SIRPG 55423 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm SKP1 6500 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm SLC16A3 9123 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm SLC22A4 6583 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane; Multi-pass membrane protein. human Cerebral aneurysm SLC25A42 284439 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Mitochondrion inner membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC26A2 1836 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC26A8 116369 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. Note=Located at the annulus ring structure within the sperm cell.. human Cerebral aneurysm SLC2A9 56606 rs7660895 PMID: 26125895 progress and prognosis (rupture)| uncertain significance Isoform 1: Basolateral cell membrane ; Multi-pass membrane protein. Isoform 2: Apical cell membrane ; Multi-pass membrane protein. Basolateral cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC39A10 57181 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC39A6 25800 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC45A3 85414 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC4A4 8671 rs12506660 PMID: 22286173 in ASN population Basolateral cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC6A16 28968 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Multi-pass membrane protein. human Cerebral aneurysm SLC7A11 23657 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLC7A6 9057 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Basolateral cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm SLITRK6 84189 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm SMAD3 4088 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Cerebral aneurysm SMCO4 56935 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass membrane protein. human Cerebral aneurysm SMTN 6525 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization." human Cerebral aneurysm SOAT1 6646 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm SOX17 64321 rs1072737| NM_022454| aneurysm tissue: decrease in protein level PMID: 22961961| PMID: 25596186 Nucleus. human Cerebral aneurysm SP100 6672 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Nucleus. Nucleus, PML body. Cytoplasm. Note=Differences in the subnuclear localization of the different isoforms seem to exist and may also be cell cycle- and interferon-dependent. Accumulates in the cytoplasm upon FAS activation. Isoform Sp100-C: Nucleus. Note=Forms a reticulate or track-like nuclear pattern with denser concentrations at the nuclear lamina and surrounding the nucleoli, a pattern reminiscent of heterochromatin-rich regions according to PubMed:11313457." human Cerebral aneurysm SPARC 6678 aneurysm tissue: increase in protein level| aneurysm wall: increase in RNA level PMID: 23516489| GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around the basement membrane." human Cerebral aneurysm SPOCK2 9806 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm SRL 6345 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Sarcoplasmic reticulum lumen. Note=Associated through calcium with the membrane.. human Cerebral aneurysm SRPK1 6732 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Isoform 2: Cytoplasm. Nucleus. Nucleus matrix. Microsome. Note=Shuttles between the nucleus and the cytoplasm. Inhibition of the Hsp90 ATPase activity, osmotic stress and interaction with HHV-1 ICP27 protein can induce its translocation to the nucleus. KAT5/TIP60 inhibits its nuclear translocation. Isoform 1: Cytoplasm. Nucleus matrix. Microsome. Note=Mainly localized in the microsomal fraction and the cytoplasm, and to a lesser extent in the nuclear matrix." human Cerebral aneurysm SRPK3 26576 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm SRPRB 58477 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Single-pass membrane protein. human Cerebral aneurysm SSBP2 23635 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm SSR1 6745 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane; Single-pass type I membrane protein. human Cerebral aneurysm SSR3 6747 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane; Multi-pass membrane protein. human Cerebral aneurysm ST6GAL1 6480 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid." human Cerebral aneurysm ST6GALNAC3 256435 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Golgi apparatus membrane ; Single-pass type II membrane protein. human Cerebral aneurysm STAC 6769 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytosol. Cell membrane ; Peripheral membrane protein ; Cytoplasmic side. Cell membrane, sarcolemma ; Peripheral membrane protein ; Cytoplasmic side." human Cerebral aneurysm STARD13 90627 rs1980781| rs9315204| rs3742321| NM_052851 PMID: 20364137 in EUR population Cytoplasm. Membrane; Peripheral membrane protein; Cytoplasmic side. Mitochondrion membrane; Peripheral membrane protein; Cytoplasmic side. Lipid droplet. human Cerebral aneurysm STARD9 57519 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Localizes throughout the cytoplasm and nucleus during interphase. Localizes to the daughter centriole during mitosis. Disappears in cytokinesis." human Cerebral aneurysm STAT1 6772 "GOF mutation| c.820C>T, P.R274W| aneurysm wall: decrease in RNA level" PMID: 28161409| PMID: 23709754| GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus. Note=Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to IFN-gamma and signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4 (PubMed:15322115). Monomethylation at Lys-525 is required for phosphorylation at Tyr-701 and translocation into the nucleus (PubMed:28753426). Translocates into the nucleus in response to interferon-beta stimulation (PubMed:26479788).." human Cerebral aneurysm STAT3 6774 F384L PMID: 26141261 case report "Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4. Constitutive nuclear presence is independent of tyrosine phosphorylation. Predominantly present in the cytoplasm without stimuli. Upon leukemia inhibitory factor (LIF) stimulation, accumulates in the nucleus. The complex composed of BART and ARL2 plays an important role in the nuclear translocation and retention of STAT3. Identified in a complex with LYN and PAG1." human Cerebral aneurysm STK36 27148 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. Note=Low levels also present in the nucleus.. human Cerebral aneurysm STRA6 64220 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. Note=In the retinal pigment epithelium localizes to the basolateral membrane.. human Cerebral aneurysm STX2 2054 rs1106369 PMID: 20613766 in ASN population Membrane; Single-pass type IV membrane protein. human Cerebral aneurysm SULF2 55959 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Endoplasmic reticulum. Golgi apparatus, Golgi stack. Cell surface. Note=Also localized on the cell surface.." human Cerebral aneurysm SULT1B1 27284 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm SYNPO2 171024 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell junction, focal adhesion. Note=Shuttles between the nucleus and the cytoplasm in a differentiation-dependent and stress-induced fashion. In undifferentiated myoblasts strongly expressed in the nucleus, after induction of myotube differentiation is located to both nucleus and cytoplasm along acting filaments, and in differentiated myotubes is located at the Z lines. Upon stress redistributes from cytoplasm of myoblasts and myotubes to the nucleus. Nuclear import is KPNA2-dependent and promoted by phosphorylation by PKA and/or CaMK2, and inhibition of calcineurin. The nuclear export is XPO1-dependent (By similarity). Localized in a fiber-like pattern, partly overlapping with filamentous actin (PubMed:18371299).. Isoform 1: Cytoplasm, cytoskeleton. Note=Localizes to induced actin bundles with contiguous staining.. Isoform 2: Cytoplasm, cytoskeleton. Note=Localizes to induced actin bundles with punctuate staining.. Isoform 3: Cytoplasm, cytoskeleton. Note=Localizes to induced irregular actin bundles with contiguous and punctuated staining.. Isoform 4: Cytoplasm, cytoskeleton. Note=Localizes to induced actin bundles with punctuate staining.. Isoform 5: Cytoplasm, cytoskeleton. Note=Localizes to induced actin bundles with contiguous staining.." human Cerebral aneurysm TACR1 6869 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane; Multi-pass membrane protein. human Cerebral aneurysm TBX18 9096 rs215939 PMID: 20613766 in ASN population Nucleus. human Cerebral aneurysm TCEA3 6920 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm TCN2 6948 c.776C>G| blood: increase in RNA level PMID: 18799873| GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) protective Secreted. human Cerebral aneurysm TENM1 10178 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass membrane protein. Ten-1 intracellular domain: Nucleus. Nucleus speckle. Nucleus matrix. Cytoplasm, cytoskeleton. Teneurin C-terminal-associated peptide: Nucleus. Cytoplasm. Cell membrane. Note=Colocalizes with the dystroglycan complex at the cell membrane in hippocampal cells. Binds hippocampal cell membranes and is incorporated in the cytoplasm by endocytosis in a caveoli-dependent manner. Upon cell internalization is transported arround and in the nucleus (By similarity).." human Cerebral aneurysm TET3 200424 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm. Chromosome. Note=At the zygotic stage, localizes in the male pronucleus, while it localizes to the cytoplasm at other preimplantation stages. Binds to the promoter of target genes, close to the transcription start site.." human Cerebral aneurysm TGFA 7039 rs3771502 PMID: 22961961 in EUR population "Transforming growth factor alpha: Secreted, extracellular space. Protransforming growth factor alpha: Cell membrane; Single-pass type I membrane protein." human Cerebral aneurysm TGFB1 7040 rs1800469 PMID: 26198819 nonindependent correlationm "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm TGFB2 7042 "c.995del, p.Leu332TrpfsTer27" PMID: 27440102 Secreted. human Cerebral aneurysm TGFBR3 7049 "NM_003254.2:c.372C-T, NP_003234.2:p.W112R" PMID: 19299629 "Secreted. Secreted, extracellular space. Cell membrane ; Single-pass type I membrane protein. Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular matrix." human Cerebral aneurysm THSD1 55901 "c.1348 C>T, p.R450X" PMID: 27895300 Isoform 1: Membrane ; Single-pass type I membrane protein. Isoform 2: Membrane ; Single-pass type I membrane protein. Isoform 3: Secreted. human Cerebral aneurysm TLK2 11011 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Note=Colocalizes with the cytoplasmic intermediate filament system during the G1 phase of the cell cycle. Present in the perinuclear region at S phase and in the nucleus at late G2." human Cerebral aneurysm TLR1 7096 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell membrane ; Single-pass type I membrane protein. Cytoplasmic vesicle, phagosome membrane ; Single-pass type I membrane protein. Membrane raft. Golgi apparatus. Note=Does not reside in lipid rafts before stimulation but accumulates increasingly in the raft upon the presence of the microbial ligand. In response to triacylated lipoproteins, TLR2:TLR1 heterodimers are recruited in lipid rafts, this recruitment determine the intracellular targeting to the Golgi apparatus.." human Cerebral aneurysm TLR5 7100 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm TLR7 51284 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Endoplasmic reticulum membrane ; Single-pass type I membrane protein. Endosome. Lysosome. Cytoplasmic vesicle, phagosome. Note=Relocalizes from endoplasmic reticulum to endosome and lysosome upon stimulation with agonist.." human Cerebral aneurysm TM2D2 83877 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm TMED9 54732 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane ; Single-pass type I membrane protein. Note=Cycles between compartments of the early secretatory pathway." human Cerebral aneurysm TMEM109 79073 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus outer membrane ; Multi-pass membrane protein. Endoplasmic reticulum membrane ; Multi-pass membrane protein. Sarcoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm TMEM110 375346 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm TMEM110-MUSTN1 100526772 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm TMEM132B 114795 aneurysm tissue: increase in RNA level PMID: 25803036 Membrane ; Single-pass type I membrane protein. human Cerebral aneurysm TMEM208 29100 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm TMEM59 9528 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Late endosome membrane ; Single-pass type I membrane protein. Lysosome membrane ; Single-pass type I membrane protein. Cell membrane ; Single-pass type I membrane protein. Golgi apparatus membrane ; Single-pass type I membrane protein. Note=Mainly localizes to late endosomes/lysosomes. Probably first exported to the cell surface and then actively endocytosed to transiently localize in early endosomes on its way to the late endosomal/lysosomal compartment where it becomes quickly degraded.. human Cerebral aneurysm TMEM9B 56674 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Lysosome membrane ; Single-pass membrane protein. Early endosome membrane ; Single-pass membrane protein. human Cerebral aneurysm TMTC1 83857 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm TNC 3371 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm TNF 7124 rs361525| rs1799724 PMID: 26198819| PMID: 21228795 weak significance initial event in the pathogenesis "Cell membrane ; Single-pass type II membrane protein. Tumor necrosis factor, membrane form: Membrane; Single-pass type II membrane protein. Tumor necrosis factor, soluble form: Secreted. C-domain 1: Secreted. C-domain 2: Secreted." human Cerebral aneurysm TNFAIP6 7130 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm TNFRSF13B 23495 "NM_012452.2:c.585_586insA| NM_012452.2:c.460A-T, NP_036584.1:p.K154*| rs146436713, NM_012452.2:c.226G-T, NP_036584.1:p.G76C" PMID: 16618819 Membrane; Single-pass type III membrane protein. human Cerebral aneurysm TNFRSF25 8718 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Cell membrane; Single-pass type I membrane protein. Isoform 9: Cell membrane; Single-pass type I membrane protein. Isoform 11: Cell membrane; Single-pass type I membrane protein. Isoform 3: Secreted. Isoform 4: Secreted. Isoform 5: Secreted. Isoform 6: Secreted. Isoform 7: Secreted. Isoform 8: Secreted. Isoform 10: Secreted. Isoform 12: Secreted. human Cerebral aneurysm TNNT3 7140 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm TNS1 7145 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cell surface. Cell junction, focal adhesion. Cytoplasm, cytoskeleton. Note=Localized at cell periphery preferentially to fibrillar adhesions than focal adhesions. Translocates from the cell edge to cell center in an ITGB1BP1-dependent manner." human Cerebral aneurysm TOP2B 7155 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus, nucleolus." human Cerebral aneurysm TOR1B 27348 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum lumen. Nucleus membrane. human Cerebral aneurysm TOX 9760 rs11777927 PMID: 26125895 Nucleus. human Cerebral aneurysm TP53 7157 p.Arg72Pro PMID: 22844323 "Cytoplasm. Nucleus. Nucleus, PML body. Endoplasmic reticulum. Mitochondrion matrix. Note=Interaction with BANP promotes nuclear localization. Recruited into PML bodies together with CHEK2. Translocates to mitochondria upon oxidative stress. Translocates to mitochondria in response to mitomycin C treatment (PubMed:27323408).. Isoform 1: Nucleus. Cytoplasm. Note=Predominantly nuclear but localizes to the cytoplasm when expressed with isoform 4. Isoform 2: Nucleus. Cytoplasm. Note=Localized mainly in the nucleus with minor staining in the cytoplasm. Isoform 3: Nucleus. Cytoplasm. Note=Localized in the nucleus in most cells but found in the cytoplasm in some cells. Isoform 4: Nucleus. Cytoplasm. Note=Predominantly nuclear but translocates to the cytoplasm following cell stress. Isoform 7: Nucleus. Cytoplasm. Note=Localized mainly in the nucleus with minor staining in the cytoplasm. Isoform 8: Nucleus. Cytoplasm. Note=Localized in both nucleus and cytoplasm in most cells. In some cells, forms foci in the nucleus that are different from nucleoli. Isoform 9: Cytoplasm." human Cerebral aneurysm TPD52L1 7164 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm TRABD2B 388630 rs10493131 PMID: 20613766 in ASN population Cell membrane ; Single-pass type I membrane protein. human Cerebral aneurysm TRAF5 7188 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, cytosol." human Cerebral aneurysm TRAPPC6A 79090 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Golgi apparatus, cis-Golgi network. Endoplasmic reticulum." human Cerebral aneurysm TREM2 54209 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Isoform 1: Cell membrane ; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. human Cerebral aneurysm TRIB2 28951 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Cytoplasm, cytoskeleton. Note=May associate with the cytoskeleton.." human Cerebral aneurysm TRRAP 8295 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm TSHZ2 128553 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm TSPAN12 23554 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cell membrane ; Multi-pass membrane protein. human Cerebral aneurysm TSPAN18 90139 rs835751 PMID: 22286173 in ASN population Membrane ; Multi-pass membrane protein. human Cerebral aneurysm TSPAN8 7103 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane; Multi-pass membrane protein. human Cerebral aneurysm TSPO 706 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Mitochondrion membrane; Multi-pass membrane protein human Cerebral aneurysm TTC1 7265 rs10515804 PMID: 22961961 in EUR population human Cerebral aneurysm TUSC3 7991 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm TUSC5 286753 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Membrane ; Multi-pass membrane protein. human Cerebral aneurysm TXK 7294 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. Cell membrane ; Peripheral membrane protein. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after receptor stimulation. Translocates into the nucleus and enhances IFN-gamma gene transcription in T-cells. human Cerebral aneurysm TXNDC12 51060 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum lumen. human Cerebral aneurysm TYMS 7298 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Mitochondrion. Mitochondrion matrix. Mitochondrion inner membrane. human Cerebral aneurysm UBA2 10054 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus, sumoylation is required either for nuclear translocation or nuclear retention." human Cerebral aneurysm UBAC2 337867 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Multi-pass membrane protein. human Cerebral aneurysm UBASH3A 53347 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Cytoplasm. Nucleus. human Cerebral aneurysm UBE2T 29089 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Note=Accumulates to chromatin. human Cerebral aneurysm UIMC1 51720 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). human Cerebral aneurysm UPP1 7378 blood: increase in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) human Cerebral aneurysm VCAN 1462 rs173686 | rs251124| rs308362| rs309557| rs308371| rs2290673 | aneurysm wall: decrease in RNA level PMID: 16917090| GEO: GSE75436 in Dutch population| p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm VLDLR 7436 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein." human Cerebral aneurysm VOPP1 81552 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Cytoplasmic vesicle membrane ; Single-pass type I membrane protein. Note=When overexpressed, localizes in the nucleus and perinuclear regions." human Cerebral aneurysm VPS41 27072 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Endosome membrane. Late endosome. Lysosome. Golgi apparatus, trans-Golgi network. Early endosome. Cytoplasmic vesicle, clathrin-coated vesicle." human Cerebral aneurysm WBP11 51729 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Cytoplasm. Note=Predominantly located in the nucleus with granular heterogeneous distribution. Excluded from nucleoli in interphase cells, distributed throughout cytoplasm in dividing cells. Colocalized with SC35 and U2B in the nucleus. In the cytoplasm, associates with the intermediate filament protein vimentin." human Cerebral aneurysm WDR41 55255 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm WDR59 79726 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Lysosome membrane. human Cerebral aneurysm WISP2 8839 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Secreted. human Cerebral aneurysm WNT11 7481 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Secreted, extracellular space, extracellular matrix." human Cerebral aneurysm WWOX 51741 CNV-67048 del PMID: 26910372 Cytoplasm. Nucleus. Mitochondrion. Golgi apparatus. Note=Partially localizes to the mitochondria (PubMed:14695174). Translocates to the nucleus upon genotoxic stress or TNF stimulation (By similarity). Translocates to the nucleus in response to TGFB1 (PubMed:19366691). Isoform 5 and isoform 6 may localize in the nucleus.. human Cerebral aneurysm XPNPEP1 7511 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Cytoplasm. human Cerebral aneurysm XXYLT1 152002 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Endoplasmic reticulum membrane ; Single-pass type II membrane protein. human Cerebral aneurysm ZBTB1 22890 rs1542313 PMID: 20613766 in ASN population "Nucleus. Nucleus, nucleoplasm. Note=Localized in dot-like structures in the nucleus (PubMed:21706167). Colocalized with SMRT in nuclear bodies (PubMed:20797634). The sumoylated form is preferentially located in the nucleoplasm outside the nuclear bodies(PubMed:20797634).." human Cerebral aneurysm ZBTB9 221504 blood: decrease in RNA level GEO: GSE36791 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm ZIC2 7546 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. Cytoplasm. Note=Localizes in the cytoplasm in presence of MDFIC overexpression. Both phosphorylated and unphosphorylated forms are localized in the nucleus (By similarity).. human Cerebral aneurysm ZMAT3 64393 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Nucleus. Nucleus, nucleolus." human Cerebral aneurysm ZNF469 84627 aneurysm wall: decrease in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) Nucleus. human Cerebral aneurysm ZNF534 147658 rs1428180 PMID: 22961961 in EUR population Nucleus. human Cerebral aneurysm ZWILCH 55055 aneurysm wall: increase in RNA level GEO: GSE75436 p<0.05 and FDR<0.05 (GEO) "Chromosome, centromere, kinetochore." human Cervico-cerebral artery dissection MTHFR 4524 C677T PMID: 27017342 human Coronary artery aneurysm ABHD16A 7920 9569*A| 22655*C PMID: 20626023 Membrane ; Multi-pass membrane protein. human Coronary artery aneurysm BAG6 7917 8854*C PMID: 20626023 "Cytoplasm, cytosol. Nucleus. Secreted, exosome. Note=Normally localized in cytosol and nucleus, it can also be released extracellularly, in exosomes, by tumor and myeloid dendritic cells (PubMed:18055229, PubMed:18852879). Cytoplasmic retention is due to interaction with GET4 (PubMed:29042515).." human Coronary artery aneurysm FGF23 8074 serum: increase in protein level PMID: 23324126 in KD children Secreted. Note=Secretion is dependent on O-glycosylation. human Coronary artery aneurysm GRIN3A 116443 rs7849782 PMID: 24278430 "Cell membrane ; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Enriched in postsynaptic plasma membrane and postsynaptic densities. Requires the presence of GRIN1 to be targeted at the plasma membrane (By similarity).." human Coronary artery aneurysm IL10 3586 -627 A/C| -1082 G| GCC haplotype PMID: 17413867| PMID: 24659220 in KD children Secreted. human Coronary artery aneurysm ITPR3 3710 rs2229634 PMID: 20618519 in KD patients; in Taiwanese population Endoplasmic reticulum membrane; Multi-pass membrane protein. human Coronary artery aneurysm KCNN2 3781 rs17136627 PMID: 23677057 Membrane; Multi-pass membrane protein. human Coronary artery aneurysm MMP12 4321 rs2276109 PMID: 20827277 in KD patients "Secreted, extracellular space, extracellular matrix." human Coronary artery aneurysm MMP3 4314 rs3025058| 5A/6A PMID: 20827277| PMID: 12103254 in KD patients "Secreted, extracellular space, extracellular matrix." human Coronary artery aneurysm NCOA1 8648 rs11894248| rs17791703| rs7572475| rs9309308 PMID: 24652666 Nucleus. human Coronary artery aneurysm PLCB1 23236 rs6140791 PMID: 26434682 "Nucleus membrane. Cytoplasm. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes.." human Coronary artery aneurysm PLCB4 5332 rs6140791 PMID: 26434682 human Coronary artery aneurysm SERPINE1 5054 peripheral venous blood: decrease in protein level PMID: 15353919 Secreted. human Ehlers-Danlos syndrome C1R 715 NM_001733.4:c.917_927delTCATCAAGTGCinsGGACA (p.Ile306_Cys309delinsArgThr) ClinVar: 267355 pathogenic Secreted. human Ehlers-Danlos syndrome COL1A1 1277 NM_000088.3:c.1042G>A (p.Ala348Thr) ClinVar: 35897 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Ehlers-Danlos syndrome COL3A1 1281 "c.953G>A| p.G883V| 4294C>T, Arg1432Ter| 1021Q>G| NM_000090.3:c.3202-14delT| NM_000090.3:c.1348-4delT| NM_000090.3:c.1744G>A (p.Gly582Ser)| NM_000090.3:c.505C>T (p.Leu169Phe)| NM_000090.3:c.1550C>T (p.Pro517Leu)| NM_000090.3:c.406G>C (p.Gly136Arg)| NM_000090.3:c.3093+1G>A| NM_000090.3:c.1471C>T (p.Arg491Ter)| NM_000090.3:c.1330G>A (p.Gly444Arg)| NM_000090.3:c.3149G>T (p.Gly1050Val)| NM_000090.3:c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)| NM_000090.3:c.2437G>A (p.Gly813Ser)| NM_000090.3:c.3563G>A (p.Gly1188Glu)| NM_000090.3:c.2356G>A (p.Gly786Arg)| NM_000090.3:c.2002C>A (p.Pro668Thr)| NM_000090.3:c.3818A>G (p.Lys1273Arg)| NM_000090.3:c.812G>A (p.Arg271Gln)" PMID: 26497932| PMID: 12786757| PMID: 11577371| PMID: 8098182| ClinVar: 199703| ClinVar: 199694| ClinVar: 17225| ClinVar: 161216| ClinVar: 161217| ClinVar: 17219| ClinVar: 17204| ClinVar: 372921| ClinVar: 101185| ClinVar: 17231| ClinVar: 17202| ClinVar: 17199| ClinVar: 17218| ClinVar: 17200| ClinVar: 199726| ClinVar: 199744| ClinVar: 161215 case report| in Ehlers-Danlos syndrome patients conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Ehlers-Danlos syndrome COL5A1 1289 NM_000093.4:c.514G>T (p.Val172Phe)| NM_000093.4:c.5350G>A (p.Ala1784Thr)| NM_000093.4:c.4230+5C>T| NM_000093.4:c.367C>G (p.Gln123Glu) ClinVar: 180298| ClinVar: 180300| ClinVar: 136892| ClinVar: 213011 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Ehlers-Danlos syndrome COL5A2 1290 NM_000393.4:c.2011C>T (p.Pro671Ser)| NM_000393.4:c.3471+8A>T ClinVar: 180303| ClinVar: 155778 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Ehlers-Danlos syndrome FBN1 2200 NM_000138.4:c.2581C>T (p.Arg861Ter)| NM_000138.4:c.640G>A (p.Gly214Ser)| NM_000138.4:c.5431G>A (p.Glu1811Lys)| NM_000138.4:c.4621C>T (p.Arg1541Ter)| NM_000138.4:c.2953G>A (p.Gly985Arg)| NM_000138.4:c.7048A>G (p.Ile2350Val)| NM_000138.4:c.7754T>C (p.Ile2585Thr)| NM_000138.4:c.6806T>C (p.Ile2269Thr) ClinVar: 265401| ClinVar: 199956| ClinVar: 200063| ClinVar: 200052| ClinVar: 200008| ClinVar: 200101| ClinVar: 163462| ClinVar: 36107 conflicting interpretations of pathogenicity "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Ehlers-Danlos syndrome FBN2 2201 NM_001999.3:c.2392G>A (p.Gly798Ser) ClinVar: 492832 uncertain significance "Secreted, extracellular space, extracellular matrix." human Ehlers-Danlos syndrome LOC101448202 101448202 NM_000093.4:c.5350G>A (p.Ala1784Thr) ClinVar: 180300 conflicting interpretations of pathogenicity human Ehlers-Danlos syndrome MYH11 4629 NM_001040113.1:c.760C>T (p.Arg254Cys) ClinVar: 161317 conflicting interpretations of pathogenicity Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Ehlers-Danlos syndrome SMAD3 4088 NM_005902.3:c.*4658T>C| NM_005902.3:c.*4553C>T| NM_005902.3:c.*4553C>A| NM_005902.3:c.*4442C>T| NM_005902.3:c.*4192G>A| NM_005902.3:c.*3735C>T| NM_005902.3:c.*3716C>T| NM_005902.3:c.*3658G>A| NM_005902.3:c.*3509A>G| NM_005902.3:c.*3171delT| NM_005902.3:c.*3171dupT| NM_005902.3:c.*3145T>C| NM_005902.3:c.*3144G>T| NM_005902.3:c.*3126C>T| NM_005902.3:c.*3117G>T| NM_005902.3:c.*3037C>G| NM_005902.3:c.*2995G>A| NM_005902.3:c.*2963A>C| NM_005902.3:c.*2891C>A| NM_005902.3:c.*2793C>T| NM_005902.3:c.*2596G>T| NM_005902.3:c.*2580C>A| NM_005902.3:c.*2573G>T| NM_005902.3:c.*2573G>A| NM_005902.3:c.*2547C>T| NM_005902.3:c.*2476A>C| NM_005902.3:c.*2453C>A| NM_005902.3:c.*2444A>G| NM_005902.3:c.*2403C>T| NM_005902.3:c.*2303G>C| NM_005902.3:c.*2291C>A| NM_005902.3:c.*2285G>A| NM_005902.3:c.*2282C>T| NM_005902.3:c.*2251C>A| NM_005902.3:c.*2245C>A| NM_005902.3:c.*2242A>G| NM_005902.3:c.*2046T>C| NM_005902.3:c.*2038G>T| NM_005902.3:c.*2028T>C| NM_005902.3:c.*2026T>C| NM_005902.3:c.*2013T>C| NM_005902.3:c.*1880C>T| NM_005902.3:c.*1853C>A| NM_005902.3:c.*1831G>T| NM_005902.3:c.*1820G>T| NM_005902.3:c.*1819C>T| NM_005902.3:c.*1805T>C| NM_005902.3:c.*1800_*1803delAGAC| NM_005902.3:c.*1790G>A| NM_005902.3:c.*1784G>T| NM_005902.3:c.*1777_*1778insCCT| NM_005902.3:c.*1767G>C| NM_005902.3:c.*1749G>T| NM_005902.3:c.*1695G>T| NM_005902.3:c.*1644T>G| NM_005902.3:c.*1641T>G| NM_005902.3:c.*1614C>A| NM_005902.3:c.*1597G>C| NM_005902.3:c.*1548G>T| NM_005902.3:c.*1515C>A| NM_005902.3:c.*1493C>A| NM_005902.3:c.*1443C>A| NM_005902.3:c.*1423C>T| NM_005902.3:c.*1355C>G| NM_005902.3:c.*1326A>G| NM_005902.3:c.*1325T>C| NM_005902.3:c.*1315C>T| NM_005902.3:c.*1255A>G| NM_005902.3:c.*1245G>A| NM_005902.3:c.*1217A>G| NM_005902.3:c.*1181C>T| NM_005902.3:c.*1165A>G| NM_005902.3:c.*1105G>A| NM_005902.3:c.*981C>A| NM_005902.3:c.*925G>A| NM_005902.3:c.*843G>A| NM_005902.3:c.*798G>A| NM_005902.3:c.*789A>G| NM_005902.3:c.*678C>A| NM_005902.3:c.*665T>A| NM_005902.3:c.*656C>A| NM_005902.3:c.*654A>G| NM_005902.3:c.*632C>A| NM_005902.3:c.*626C>T| NM_005902.3:c.*609A>G| NM_005902.3:c.*579delG| NM_005902.3:c.*573G>T| NM_005902.3:c.*552G>T| NM_005902.3:c.*552G>C| NM_005902.3:c.*495C>A| NM_005902.3:c.*419G>T| NM_005902.3:c.*402C>T| NM_005902.3:c.*318G>A| NM_005902.3:c.*304C>T| NM_005902.3:c.*301C>T| NM_005902.3:c.*292G>T| NM_005902.3:c.*291G>A| NM_005902.3:c.*250C>A| NM_005902.3:c.*195G>T| NM_005902.3:c.*51G>C| NM_005902.3:c.1010-12T>C| NM_005902.3:c.922C>T (p.Leu308Phe)| NM_005902.3:c.607+9T>A| NM_005902.3:c.341A>G (p.Asn114Ser)| NM_005902.3:c.-100C>T| NM_005902.3:c.-115C>T| NM_005902.3:c.-164A>C| NM_005902.3:c.-168C>A| NM_005902.3:c.-217C>T| NM_005902.3:c.-240G>T| NM_005902.3:c.-244G>A| NM_005902.3:c.-265T>G| NM_005902.3:c.-280C>A| NM_005902.3:c.364G>A (p.Val122Met)| NM_005902.3:c.*2229A>G| NM_005902.3:c.*2227G>A| NM_005902.3:c.-23C>T| NM_005902.3:c.-28C>T| NM_005902.3:c.1125C>T (p.Ser375=)| NM_005902.3:c.457C>T (p.Leu153=)| NM_005902.3:c.207-10G>A| NM_005902.3:c.1102C>A (p.Arg368=)| NM_005902.3:c.-15G>A| NM_005902.3:c.885G>A (p.Arg295=)| NM_005902.3:c.984G>A (p.Pro328=)| NM_005902.3:c.66G>A (p.Glu22=)| NM_005902.3:c.870C>T (p.Ile290=)| NM_005902.3:c.309A>G (p.Leu103=)| NM_005902.3:c.508A>G (p.Ile170Val)| NM_005902.3:c.715G>A (p.Glu239Lys)| NM_005902.3:c.782C>T (p.Thr261Ile)| NM_005902.3:c.335C>T (p.Ala112Val)| NM_005902.3:c.859C>T (p.Arg287Trp) ClinVar: 369097| ClinVar: 316965| ClinVar: 316964| ClinVar: 316963| ClinVar: 316962| ClinVar: 316961| ClinVar: 316960| ClinVar: 316959| ClinVar: 316958| ClinVar: 316957| ClinVar: 316956| ClinVar: 316955| ClinVar: 316954| ClinVar: 316953| ClinVar: 316952| ClinVar: 316951| ClinVar: 316950| ClinVar: 316949| ClinVar: 316948| ClinVar: 316947| ClinVar: 316946| ClinVar: 316945| ClinVar: 316944| ClinVar: 316943| ClinVar: 316942| ClinVar: 316941| ClinVar: 316940| ClinVar: 316939| ClinVar: 316938| ClinVar: 316937| ClinVar: 316936| ClinVar: 316935| ClinVar: 316934| ClinVar: 316933| ClinVar: 316932| ClinVar: 316931| ClinVar: 316928| ClinVar: 316927| ClinVar: 316926| ClinVar: 316925| ClinVar: 316924| ClinVar: 316923| ClinVar: 316922| ClinVar: 316921| ClinVar: 316920| ClinVar: 316919| ClinVar: 316918| ClinVar: 316917| ClinVar: 316916| ClinVar: 316915| ClinVar: 316914| ClinVar: 316913| ClinVar: 316912| ClinVar: 316911| ClinVar: 316910| ClinVar: 316909| ClinVar: 316908| ClinVar: 316907| ClinVar: 316906| ClinVar: 316905| ClinVar: 316904| ClinVar: 316903| ClinVar: 316902| ClinVar: 316901| ClinVar: 316900| ClinVar: 316899| ClinVar: 316898| ClinVar: 316897| ClinVar: 316896| ClinVar: 316895| ClinVar: 316894| ClinVar: 316893| ClinVar: 316892| ClinVar: 316891| ClinVar: 316890| ClinVar: 316889| ClinVar: 316888| ClinVar: 316887| ClinVar: 316886| ClinVar: 316885| ClinVar: 316884| ClinVar: 316883| ClinVar: 316882| ClinVar: 316881| ClinVar: 316880| ClinVar: 316879| ClinVar: 316878| ClinVar: 316877| ClinVar: 316876| ClinVar: 316875| ClinVar: 316874| ClinVar: 316873| ClinVar: 316872| ClinVar: 316871| ClinVar: 316870| ClinVar: 316869| ClinVar: 316868| ClinVar: 316867| ClinVar: 316866| ClinVar: 316865| ClinVar: 316863| ClinVar: 316862| ClinVar: 316861| ClinVar: 316860| ClinVar: 316859| ClinVar: 316858| ClinVar: 316857| ClinVar: 316856| ClinVar: 316855| ClinVar: 316854| ClinVar: 316853| ClinVar: 316852| ClinVar: 316851| ClinVar: 155836| ClinVar: 316930| ClinVar: 316929| ClinVar: 139215| ClinVar: 139214| ClinVar: 316864| ClinVar: 213758| ClinVar: 284209| ClinVar: 264036| ClinVar: 139216| ClinVar: 198533| ClinVar: 240273| ClinVar: 213757| ClinVar: 139213| ClinVar: 139217| ClinVar: 139212| ClinVar: 30311| ClinVar: 30308| ClinVar: 30312| ClinVar: 30306 conflicting interpretations of pathogenicity "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Ehlers-Danlos syndrome TGFB2 7042 NM_003238.3:c.356C>T (p.Pro119Leu)| NM_001135599.2:c.703G>C (p.Val235Leu)| NM_003238.3:c.895C>T (p.Arg299Trp)| NM_001135599.3:c.1042C>T (p.Arg348Cys)| NM_001135599.3:c.771C>A (p.Cys257Ter)| NM_001135599.3:c.1097C>A (p.Pro366His)| NM_001135599.3:c.1106_1110delACAAT (p.Tyr369Cysfs)| NM_001135599.2:c.988C>T (p.Arg330Cys)| NM_001135599.3:c.294_308delCTACGCCAAGGAGGT (p.Ala100_Tyr104del) ClinVar: 213840| ClinVar: 155837| ClinVar: 213845| ClinVar: 495213| ClinVar: 37088| ClinVar: 37085| ClinVar: 224873| ClinVar: 224872| ClinVar: 37086 conflicting interpretations of pathogenicity Secreted. human Ehlers-Danlos syndrome TGFB3 7043 NM_003239.4:c.704delA (p.Asn235Metfs)| NM_003239.4:c.787G>C (p.Asp263His)| NM_003239.4:c.898C>T (p.Arg300Trp) ClinVar: 203491| ClinVar: 203492| ClinVar: 203490 conflicting interpretations of pathogenicity Secreted. human Ehlers-Danlos syndrome TGFBR1 7046 NM_004612.3:c.1459C>T (p.Arg487Trp)| NM_004612.3:c.*4809A>T| NM_004612.3:c.*4793A>G| NM_004612.3:c.*4804dupT| NM_004612.3:c.*4728G>A| NM_004612.3:c.*4623G>C| NM_004612.3:c.*4578T>G| NM_004612.3:c.*4565T>C| NM_004612.3:c.*4499G>A| NM_004612.3:c.*4493G>A| NM_004612.3:c.*4489T>C| NM_004612.3:c.*4467C>A| NM_004612.3:c.*4356A>G| NM_004612.3:c.*4300C>T| NM_004612.3:c.*4202A>G| NM_004612.3:c.*4147G>A| NM_004612.3:c.*4088G>T| NM_004612.3:c.*4055G>T| NM_004612.3:c.*3881G>T| NM_004612.3:c.*3830T>C| NM_004612.3:c.*3798G>A| NM_004612.3:c.*3790C>T| NM_004612.3:c.*3716T>C| NM_004612.3:c.*3704A>G| NM_004612.3:c.*3567G>A| NM_004612.3:c.*3482C>G| NM_004612.3:c.*3432G>T| NM_004612.3:c.*3430delA| NM_004612.3:c.*3382T>G| NM_004612.3:c.*3317C>G| NM_004612.3:c.*3314A>G| NM_004612.3:c.*3286G>C| NM_004612.3:c.*3262C>T| NM_004612.3:c.*3261T>C| NM_004612.3:c.*3225G>A| NM_004612.3:c.*3192T>C| NM_004612.3:c.*3056C>A| NM_004612.3:c.*2980G>T| NM_004612.3:c.*2880C>A| NM_004612.3:c.*2833G>A| NM_004612.3:c.*2800G>A| NM_004612.3:c.*2799C>T| NM_004612.3:c.*2791G>A| NM_004612.3:c.*2768T>A| NM_004612.3:c.*2713G>T| NM_004612.3:c.*2703G>A| NM_004612.3:c.*2685T>G| NM_004612.3:c.*2637_*2639delTCT| NM_004612.3:c.*2547A>G| NM_004612.3:c.*2410C>T| NM_004612.3:c.*2279T>C| NM_004612.3:c.*2179delA| NM_004612.3:c.*2106G>T| NM_004612.3:c.*2112_*2114delGTT| NM_004612.3:c.*2104_*2105insGT| NM_004612.3:c.*2103_*2104insG| NM_004612.3:c.*2103T>G| NM_004612.3:c.*2101_*2102insGT| NM_004612.3:c.*2100T>G| NM_004612.3:c.*2095T>G| NM_004612.3:c.*2092G>T| NM_004612.3:c.*2105dupT| NM_004612.3:c.*2086T>G| NM_004612.3:c.*2081G>T| NM_004612.3:c.*2005T>G| NM_004612.3:c.*1959G>T| NM_004612.3:c.*1924G>T| NM_004612.3:c.*1804A>G| NM_004612.3:c.*1787T>C| NM_004612.3:c.*1772A>C| NM_004612.3:c.*1710G>A| NM_004612.3:c.*1704G>T| NM_004612.3:c.*1687A>G| NM_004612.3:c.*1659T>C| NM_004612.3:c.*1515G>A| NM_004612.3:c.*1431G>T| NM_004612.3:c.*1428G>C| NM_004612.3:c.*1368C>A| NM_004612.3:c.*1269T>G| NM_004612.3:c.*1250G>T| NM_004612.3:c.*1223A>G| NM_004612.3:c.*1183G>A| NM_004612.3:c.*789G>A| NM_004612.3:c.*756C>A| NM_004612.3:c.*709C>T| NM_004612.3:c.*566T>C| NM_004612.3:c.*512_*516delATCTT| NM_004612.3:c.*360A>G| NM_004612.3:c.*311G>A| NM_004612.3:c.*309C>T| NM_004612.3:c.*69A>G| NM_004612.3:c.1443T>A (p.Ala481=)| NM_004612.3:c.828C>G (p.Leu276=)| NM_004612.3:c.666A>G (p.Gly222=)| NM_004612.3:c.490C>T (p.Pro164Ser)| NM_004612.3:c.97+23_97+26dupGGCG| NM_004612.3:c.-43C>A| NM_004612.3:c.*884A>G| NM_004612.3:c.*2645A>C| NM_004612.3:c.479A>G (p.Asn160Ser)| NM_004612.3:c.-13T>C| NM_004612.3:c.575-9dupT| NM_004612.3:c.1460G>A (p.Arg487Gln)| NM_004612.3:c.1433A>G (p.Asn478Ser)| NM_004612.3:c.1032T>C (p.Asn344=)| NM_004612.3:c.457G>A (p.Val153Ile)| NM_004612.3:c.415A>G (p.Ile139Val)| NM_004612.3:c.528G>A (p.Thr176=)| NM_004612.3:c.722C>T (p.Ser241Leu)| NM_004612.3:c.1125A>C (p.Thr375=)| NM_001130916.2:c.70_78delGCGGCGGCG (p.Ala24_Ala26del)| NM_004612.3:c.934G>A (p.Gly312Ser) ClinVar: 12526| ClinVar: 364194| ClinVar: 364193| ClinVar: 364192| ClinVar: 364191| ClinVar: 364190| ClinVar: 364189| ClinVar: 364188| ClinVar: 364187| ClinVar: 364186| ClinVar: 364185| ClinVar: 364184| ClinVar: 364183| ClinVar: 364182| ClinVar: 364181| ClinVar: 364180| ClinVar: 364179| ClinVar: 364178| ClinVar: 364177| ClinVar: 364176| ClinVar: 364175| ClinVar: 364174| ClinVar: 364173| ClinVar: 364172| ClinVar: 364171| ClinVar: 364170| ClinVar: 364169| ClinVar: 364168| ClinVar: 364167| ClinVar: 364166| ClinVar: 364165| ClinVar: 364164| ClinVar: 364163| ClinVar: 364162| ClinVar: 364161| ClinVar: 364160| ClinVar: 364159| ClinVar: 364158| ClinVar: 364157| ClinVar: 364156| ClinVar: 364155| ClinVar: 364154| ClinVar: 364153| ClinVar: 364152| ClinVar: 364151| ClinVar: 364150| ClinVar: 364149| ClinVar: 364147| ClinVar: 364146| ClinVar: 364145| ClinVar: 364144| ClinVar: 364143| ClinVar: 364142| ClinVar: 364141| ClinVar: 364140| ClinVar: 364139| ClinVar: 364138| ClinVar: 364137| ClinVar: 364136| ClinVar: 364135| ClinVar: 364134| ClinVar: 364133| ClinVar: 364132| ClinVar: 364131| ClinVar: 364130| ClinVar: 364129| ClinVar: 364128| ClinVar: 364127| ClinVar: 364126| ClinVar: 364125| ClinVar: 364124| ClinVar: 364123| ClinVar: 364122| ClinVar: 364121| ClinVar: 364120| ClinVar: 364119| ClinVar: 364118| ClinVar: 364117| ClinVar: 364116| ClinVar: 364115| ClinVar: 364114| ClinVar: 364113| ClinVar: 364111| ClinVar: 364110| ClinVar: 364109| ClinVar: 364108| ClinVar: 364107| ClinVar: 364106| ClinVar: 364105| ClinVar: 364104| ClinVar: 364103| ClinVar: 364102| ClinVar: 364101| ClinVar: 364100| ClinVar: 364099| ClinVar: 364097| ClinVar: 364095| ClinVar: 364112| ClinVar: 364148| ClinVar: 364098| ClinVar: 364096| ClinVar: 213855| ClinVar: 12525| ClinVar: 161393| ClinVar: 45093| ClinVar: 213868| ClinVar: 177810| ClinVar: 45097| ClinVar: 12524| ClinVar: 36857| ClinVar: 165381| ClinVar: 213882 conflicting interpretations of pathogenicity "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Ehlers-Danlos syndrome TGFBR2 7048 NM_003242.5:c.1609C>T (p.Arg537Cys)| NM_003242.5:c.412T>G (p.Cys138Gly)| NM_003242.5:c.1489C>T (p.Arg497Ter)| NM_003242.5:c.1483C>T (p.Arg495Ter)| NM_003242.5:c.1159G>T (p.Val387Leu)| NM_003242.5:c.1379G>A (p.Arg460His)| NM_003242.5:c.1378C>T (p.Arg460Cys)| NM_003242.5:c.1151A>G (p.Asn384Ser)| NM_003242.5:c.1280C>T (p.Pro427Leu)| NM_003242.5:c.944C>T (p.Thr315Met)| NM_003242.5:c.*2483T>G| NM_003242.5:c.*2437T>A| NM_003242.5:c.*2425C>A| NM_003242.5:c.*2340T>C| NM_003242.5:c.*2335T>A| NM_003242.5:c.*2332A>C| NM_003242.5:c.*2248dupT| NM_003242.5:c.*2085T>A| NM_003242.5:c.*2066G>A| NM_003242.5:c.*2065C>T| NM_003242.5:c.*1998G>A| NM_003242.5:c.*1887G>T| NM_003242.5:c.*1886G>T| NM_003242.5:c.*1880G>A| NM_003242.5:c.*1860C>A| NM_003242.5:c.*1859G>T| NM_003242.5:c.*1842G>T| NM_003242.5:c.*1833A>C| NM_003242.5:c.*1815C>T| NM_003242.5:c.*1809A>G| NM_003242.5:c.*1682A>G| NM_003242.5:c.*1572A>G| NM_003242.5:c.*1521G>A| NM_003242.5:c.*1507A>G| NM_003242.5:c.*1354C>T| NM_003242.5:c.*1326G>A| NM_003242.5:c.*1285A>T| NM_003242.5:c.*1211A>T| NM_003242.5:c.*1201C>T| NM_003242.5:c.*1075C>T| NM_003242.5:c.*997T>A| NM_003242.5:c.*989G>A| NM_003242.5:c.*988C>T| NM_003242.5:c.*859G>A| NM_003242.5:c.*858C>T| NM_003242.5:c.*848C>T| NM_003242.5:c.*835C>A| NM_003242.5:c.*799A>G| NM_003242.5:c.*793G>T| NM_003242.5:c.*747C>G| NM_003242.5:c.*742C>T| NM_003242.5:c.*713G>T| NM_003242.5:c.*704A>G| NM_003242.5:c.*599C>A| NM_003242.5:c.*598G>T| NM_003242.5:c.*443A>G| NM_003242.5:c.*352A>G| NM_003242.5:c.*330C>A| NM_003242.5:c.*330_*331delCT| NM_003242.5:c.*328A>C| NM_003242.5:c.*312A>T| NM_003242.5:c.*326_*329dupATAT| NM_003242.5:c.*226C>A| NM_003242.5:c.*149A>T| NM_003242.5:c.*105G>A| NM_003242.5:c.*86A>G| NM_003242.5:c.*33A>G| NM_003242.5:c.1525-10C>G| NM_003242.5:c.1470C>T (p.Asn490=)| NM_003242.5:c.1042C>T (p.Arg348Cys)| NM_003242.5:c.736C>T (p.Leu246=)| NM_003242.5:c.621G>A (p.Arg207=)| NM_003242.5:c.472C>T (p.Pro158Ser)| NM_003242.5:c.-18C>A| NM_003242.5:c.-117G>A| NM_003242.5:c.-128C>G| NM_003242.5:c.-193G>A| NM_003242.5:c.-228C>A| NM_003242.5:c.-249T>G| NM_003242.5:c.-302A>G| NM_003242.5:c.-307C>T| NM_003242.5:c.-344C>A| NM_003242.5:c.-371A>C| NM_003242.5:c.696C>T (p.Ala232=)| NM_003242.5:c.690G>A (p.Thr230=)| NM_003242.5:c.1208G>A (p.Arg403His)| NM_003242.5:c.915C>T (p.Leu305=)| NM_003242.5:c.1525-8C>T| NM_003242.5:c.984C>T (p.His328=)| NM_003242.5:c.367A>T (p.Met123Leu)| NM_003242.5:c.1602G>A (p.Val534=)| NM_003242.5:c.1167C>T (p.Asn389=)| NM_003242.5:c.455-4T>A| NM_003242.5:c.263+7A>G| NM_003242.5:c.571G>A (p.Val191Ile)| NM_003242.5:c.1062C>T (p.Leu354=)| NM_003242.5:c.1266A>G (p.Ala422=)| NM_003242.5:c.999A>G (p.Leu333=)| NM_003242.5:c.1119G>A (p.Met373Ile)| NM_001024847.2:c.1732T>A (p.Ser578Thr)| NM_003242.5:c.1159G>A (p.Val387Met) ClinVar: 12507| ClinVar: 213915| ClinVar: 213934| ClinVar: 12519| ClinVar: 36862| ClinVar: 12515| ClinVar: 12514| ClinVar: 36860| ClinVar: 12518| ClinVar: 12502| ClinVar: 344720| ClinVar: 344719| ClinVar: 344718| ClinVar: 344717| ClinVar: 344716| ClinVar: 344715| ClinVar: 344714| ClinVar: 344713| ClinVar: 344712| ClinVar: 344711| ClinVar: 344710| ClinVar: 344709| ClinVar: 344708| ClinVar: 344707| ClinVar: 344706| ClinVar: 344705| ClinVar: 344704| ClinVar: 344703| ClinVar: 344702| ClinVar: 344701| ClinVar: 344700| ClinVar: 344699| ClinVar: 344698| ClinVar: 344697| ClinVar: 344696| ClinVar: 344695| ClinVar: 344694| ClinVar: 344693| ClinVar: 344692| ClinVar: 344691| ClinVar: 344690| ClinVar: 344689| ClinVar: 344688| ClinVar: 344687| ClinVar: 344686| ClinVar: 344685| ClinVar: 344684| ClinVar: 344683| ClinVar: 344682| ClinVar: 344681| ClinVar: 344680| ClinVar: 344679| ClinVar: 344678| ClinVar: 344677| ClinVar: 344676| ClinVar: 344675| ClinVar: 344674| ClinVar: 344673| ClinVar: 344672| ClinVar: 344671| ClinVar: 344670| ClinVar: 344669| ClinVar: 344668| ClinVar: 344667| ClinVar: 344666| ClinVar: 344665| ClinVar: 344664| ClinVar: 344663| ClinVar: 344662| ClinVar: 344661| ClinVar: 344660| ClinVar: 344657| ClinVar: 344656| ClinVar: 344655| ClinVar: 344654| ClinVar: 344653| ClinVar: 344652| ClinVar: 344651| ClinVar: 344650| ClinVar: 344649| ClinVar: 344648| ClinVar: 344647| ClinVar: 344646| ClinVar: 344659| ClinVar: 344658| ClinVar: 213908| ClinVar: 213906| ClinVar: 213910| ClinVar: 36869| ClinVar: 213939| ClinVar: 137637| ClinVar: 44652| ClinVar: 44658| ClinVar: 36867| ClinVar: 137635| ClinVar: 137636| ClinVar: 36865| ClinVar: 44661| ClinVar: 36859| ClinVar: 161394| ClinVar: 44651 conflicting interpretations of pathogenicity Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Ehlers-Danlos syndrome TNXB 7148 NM_019105.6:c.2531A>G (p.Gln844Arg) ClinVar: 440954 "Secreted, extracellular space, extracellular matrix." human Familial retinal arterial macroaneurysm IGFBP7 3490 c.830-1G>A PMID: 21835307 Secreted. human Internal mammary artery aneurysm SMAD3 4088 heterozygous mutation PMID: 28286188 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Kawasaki disease ACE 1636 I/D polymorphysm| G2350A PMID: 15164145 Taiwan population "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Kawasaki disease CASP3 836 rs72689236 PMID: 21160486 "weak (border significant), A allele is pathogenic " Cytoplasm. human Kawasaki disease CCR5 1234 -2135C/T PMID: 18629619 Cell membrane ; Multi-pass membrane protein. human Kawasaki disease HLA-E 3133 rs2844724 PMID: 19180512 Membrane; Single-pass type I membrane protein. human Kawasaki disease HLA-G 3135 "rs12722477, Leu134Ile" PMID: 18976687 Isoform 1: Cell membrane ; Single-pass type I membrane protein. Isoform 2: Cell membrane ; Single-pass type I membrane protein. Isoform 3: Cell membrane ; Single-pass type I membrane protein. Isoform 4: Cell membrane ; Single-pass type I membrane protein. Isoform 5: Secreted. Isoform 6: Secreted. Isoform 7: Secreted. human Kawasaki disease IL1RAP 3556 genotype I/II PMID: 15900570 Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. human Kawasaki disease ITPKC 80271 rs28493229 PMID: 21533171 Nucleus. Cytoplasm. Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity. human Kawasaki disease MMP1 4312 sera: increase in protein level| increase in RNA level PMID: 16191276 "Secreted, extracellular space, extracellular matrix." human Kawasaki disease MMP3 4314 serum: increase in protein level PMID: 18810583 in Korean children "Secreted, extracellular space, extracellular matrix." human Kawasaki disease MMP9 4318 plasma/serum: increase in protein level (pro-MMP9) PMID: 12626459 "Secreted, extracellular space, extracellular matrix." human Kawasaki disease PELI1 57162 rs7604693 PMID: 21221998 human Kawasaki disease VEGFA 7422 KD tissue: increase in protein level PMID: 11839635 Secreted. human Loeys-Dietz syndrome TGFBR1 7046 "NM_004612.2:c.683_685delAAG| NM_004612.2:c.694A-G, NP_004603.1:p.K232E| rs141259922, NM_004612.2:c.1433A-G, NP_004603.1:p.N478S| rs121918712, NM_004612.2:c.599C-T, NP_004603.1:p.T200I| NM_004612.2:c.214A-T, NP_004603.1:p.T200P| rs121918710, NM_004612.2:c.1460G-A, NP_004603.1:p.M318R| NM_004612.2:c.1460G-C, NP_004603.1:p.M379V| rs113605875, NM_004612.2:c.1460G-C, NP_004603.1:p.R487P| rs111426349, NM_004612.2:c.1459C-T, NP_004603.1:p.R487W| NM_004612.2:c.1199A-G, NP_004603.1:p.L354P| rs121918711, NM_003242.5:c.1483C-T, NP_004603.1:p.D400G| NM_003242.5:c.1379G-A, NP_004603.1:p.A350E| NM_003242.5:c.1378C-T, NP_004603.1:p.G374E| NM_003242.5:c.1583G-A, NP_004603.1:p.G353V| NM_003242.5:c.985G-A, NP_004603.1:p.F234L" PMID: 18781618| PMID: 16928994| PMID: 15731757| PMID: 21774844| PMID: 16835936| PMID: 18852674 LDS with AA "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Loeys-Dietz syndrome TGFBR2 7048 "NM_003242.5:c.865_873delACAGAGAAG| NM_003242.5:c.1069G-T, NP_003233.4:p.T155I| NM_003242.5:c.1006T-A, NP_003233.4:p.M457K| NM_001024847.2:c.136A-C, NP_003233.4:p.H377P| rs104893818, NM_001024847.2:c.166C-A, NP_003233.4:p.P427L| NM_003254.2:c.372C-T, NP_003233.4:p.P427S| rs104893819, NM_003255.4:c.303G-A, NP_003233.4:p.R495*| NM_003242.5:c.1379G-T, NP_003233.4:p.R460L| NM_003242.5:c.1609C-G, NP_003233.4:p.R537G| NM_003242.5:c.1583G-A, NP_003233.4:p.R356P| rs104893815, NM_003242.5:c.1582C-T, NP_003233.4:p.R528H| rs104893810, NM_003242.5:c.985G-A, NP_003233.4:p.R528C| NM_003242.5:c.1063G-C, NP_003233.4:p.L529F| NM_003242.5:c.1159G-A, NP_003233.4:p.D522N| NM_003242.5:c.1006T-A, NP_003233.4:p.D524N| NM_001024847.2:c.136A-C, NP_003233.4:p.E440K| NM_001024847.2:c.166C-A, NP_003233.4:p.E519K| NM_003254.2:c.372C-T, NP_003233.4:p.D446H| rs148665451, NM_003255.4:c.303G-A, NP_003233.4:p.A329T| NM_012452.2:c.226G-T, NP_003233.4:p.A531T| rs104893813, NM_003242.5:c.1063G-C, NP_003233.4:p.A355P| NM_003242.5:c.1069G-T, NP_003233.4:p.A527V| NM_003242.5:c.1006T-A, NP_003233.4:p.A414P| NM_003242.5:c.1657T-A, NP_003233.4:p.G351D| NM_001024847.2:c.136A-C, NP_003233.4:p.G509V| rs104893814, NM_001024847.2:c.166C-A, NP_003233.4:p.G357W| NM_003254.2:c.372C-T, NP_003233.4:p.V258G| NM_012452.2:c.226G-T, NP_003233.4:p.V387L| rs104893812, NM_003242.5:c.1006T-A, NP_003233.4:p.Y336N| NM_003242.5:c.1657T-A, NP_003233.4:p.Y448H| NM_003254.2:c.372C-T, NP_003233.4:p.C520R| NM_012452.2:c.226G-T, NP_003233.4:p.C520Y| NM_003242.5:c.1559G-T, NP_003233.4:p.C520F| NM_003242.5:c.1597T-C, NP_003233.4:p.C533R| NM_003242.5:c.1382G-A, NP_003233.4:p.C461Y| NM_003242.5:c.1598G-T, NP_003233.4:p.C533F| NM_003242.5:c.1324T-C, NP_003233.4:p.F442L| p.Ile510Ser" PMID: 17470566| PMID: 24793577| PMID: 16928994| PMID: 18781618| PMID: 21267002| PMID: 16283890| PMID: 15731757| PMID: 17599521| PMID: 18852674| PMID: 21949523| PMID: 16791849| PMID: 21484991| PMID: 20681224| PMID: 20956634| PMID: 19883511 LDS with AA| case report; LDS(II) Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Marfan syndrome FBN1 2200 c.1464T>A (p.C488X)| EX24 G2950A(V984I)| KO can lead to poor prognosis| EX62 7729T>C| EX54 6695 G>A| EX28 3546C>G| NM_000138.4:c.7412C>G (p.Pro2471Arg)| NM_000138.4:c.8300A>G (p.Asn2767Ser)| NM_000138.4:c.6997+4A>G| NM_000138.4:c.4727T>C (p.Met1576Thr)| NM_000138.4:c.59A>G (p.Tyr20Cys)| NM_000138.4:c.7039_7040delAT (p.Met2347Valfs)| NM_000138.4:c.8149G>A (p.Glu2717Lys)| NM_000138.4:c.902G>T (p.Gly301Val)| NM_000138.4:c.3422C>T (p.Pro1141Leu)| NM_000138.4:c.3442C>G (p.Pro1148Ala)| NM_000138.4:c.8616A>G (p.Ter2872=)| NM_000138.4:c.8335G>T (p.Glu2779Ter)| NM_000138.4:c.826G>A (p.Gly276Arg)| NM_000138.4:c.8232G>C (p.Gln2744His)| NM_000138.4:c.8051+5G>A| NM_000138.4:c.8042T>G (p.Ile2681Arg)| NM_000138.4:c.7999G>T (p.Glu2667Ter)| NM_000138.4:c.7819+1G>T| NM_000138.4:c.7605C>G (p.Cys2535Trp)| NM_000138.4:c.7560G>A (p.Thr2520=)| NM_000138.4:c.7516G>A (p.Gly2506Ser)| NM_000138.4:c.7510A>T (p.Ile2504Phe)| NM_000138.4:c.7400A>G (p.Gln2467Arg)| NM_000138.4:c.7272A>G (p.Ser2424=)| NM_000138.4:c.7266A>G (p.Arg2422=)| NM_000138.4:c.7112G>A (p.Trp2371Ter)| NM_000138.4:c.6906T>G (p.Cys2302Trp)| NM_000138.4:c.687C>G (p.His229Gln)| NM_000138.4:c.6871+3A>T| NM_000138.4:c.6845G>A (p.Arg2282Gln)| NM_000138.4:c.6679T>C (p.Ser2227Pro)| NM_000138.4:c.6675T>C (p.Tyr2225=)| NM_000138.4:c.6645delG (p.Leu2216Serfs)| NM_000138.4:c.6631G>T (p.Ala2211Ser)| NM_000138.4:c.6616+1G>C| NM_000138.4:c.6549T>A (p.Asn2183Lys)| NM_000138.4:c.6391T>A (p.Cys2131Ser)| NM_000138.4:c.6347G>C (p.Gly2116Ala)| NM_000138.4:c.6327delG (p.Ile2110Tyrfs)| NM_000138.4:c.6207G>A (p.Lys2069=)| NM_000138.4:c.6099A>G (p.Glu2033=)| NM_000138.4:c.6049T>C (p.Cys2017Arg)| NM_000138.4:c.6048_6056delGTGTGTCGA (p.Cys2017_Glu2019del)| NM_000138.4:c.6038-1G>A| NM_000138.4:c.5824T>G (p.Cys1942Gly)| NM_000138.4:c.5821C>T (p.Leu1941Phe)| NM_000138.4:c.5788+4C>T| NM_000138.4:c.5788+2T>C| NM_000138.4:c.5755G>A (p.Gly1919Ser)| NM_000138.4:c.5512G>A (p.Gly1838Ser)| NM_000138.4:c.5511C>T (p.Pro1837=)| NM_000138.4:c.5431G>T (p.Glu1811Ter)| NM_000138.4:c.5347A>T (p.Ile1783Phe)| NM_000138.4:c.4943-4A>G| NM_000138.4:c.4891T>A (p.Cys1631Ser)| NM_000138.4:c.4821delTinsCA (p.Asp1608Argfs)| NM_000138.4:c.4817-2A>G| NM_000138.4:c.4747+5G>T| NM_000138.4:c.4719T>C (p.Pro1573=)| NM_000138.4:c.4694C>T (p.Ser1565Phe)| NM_000138.4:c.4691G>A (p.Cys1564Tyr)| NM_000138.4:c.4635A>T (p.Gly1545=)| NM_000138.4:c.4582+5G>C| NM_000138.4:c.4582+2dup| NM_000138.4:c.4582+1G>T| NM_000138.4:c.4555delC (p.Leu1519Terfs)| NM_000138.4:c.4539C>G (p.Cys1513Trp)| NM_000138.4:c.4459+2T>G| NM_000138.4:c.443-1G>A| NM_000138.4:c.4395T>C (p.Pro1465=)| NM_000138.4:c.4337-2A>T| NM_000138.4:c.4316C>G (p.Ala1439Gly)| NM_000138.4:c.4293C>T (p.Cys1431=)| NM_000138.4:c.4293C>G (p.Cys1431Trp)| NM_000138.4:c.4244G>A (p.Cys1415Tyr)| NM_000138.4:c.4211-10C>T| NM_000138.4:c.4210+3A>G| NM_000138.4:c.406T>G (p.Cys136Gly)| NM_000138.4:c.4293C>A (p.Cys1431Ter)| NM_000138.4:c.3962dup (p.Asp1322Argfs)| NM_000138.4:c.3794G>C (p.Cys1265Ser)| NM_000138.4:c.3616G>C (p.Gly1206Arg)| NM_000138.4:c.3528G>A (p.Gly1176=)| NM_000138.4:c.3521T>C (p.Leu1174Pro)| NM_000138.4:c.3513C>T (p.Cys1171=)| NM_000138.4:c.3458G>A (p.Cys1153Tyr)| NM_000138.4:c.336dup (p.Ser113Leufs)| NM_000138.4:c.32T>A (p.Leu11Gln)| NM_000138.4:c.3295G>A (p.Glu1099Lys)| NM_000138.4:c.3145G>A (p.Gly1049Ser)| NM_000138.4:c.3123C>T (p.His1041=)| NM_000138.4:c.3098delA (p.Lys1033Argfs)| NM_000138.4:c.3061_3082+172del| NM_000138.4:c.3031G>A (p.Gly1011Arg)| NM_000138.4:c.2953G>T (p.Gly985Trp)| NM_000138.4:c.2950G>A (p.Val984Ile)| NM_000138.4:c.2877C>A (p.Phe959Leu)| NM_000138.4:c.2873G>C (p.Cys958Ser)| NM_000138.4:c.2771G>T (p.Gly924Val)| NM_000138.4:c.2738A>C (p.Glu913Ala)| NM_000138.4:c.2729-3delT| NM_000138.4:c.2721A>G (p.Gln907=)| NM_000138.4:c.2691T>C (p.Gly897=)| NM_000138.4:c.2682_2692delCATATGTGGTAinsTTTACC (p.Ile895Leufs)| NM_000138.4:c.2677+5G>A| NM_000138.4:c.2647T>C (p.Trp883Arg)| NM_000138.4:c.2626T>C (p.Cys876Arg)| NM_000138.4:c.2416G>A (p.Glu806Lys)| NM_000138.4:c.2289C>T (p.Cys763=)| NM_000138.4:c.2245A>G (p.Ile749Val)| NM_000138.4:c.2168-9G>T| NM_000138.4:c.1983C>G (p.Cys661Trp)| NM_000138.4:c.1862G>A (p.Gly621Glu)| NM_000138.4:c.1670G>T (p.Cys557Phe)| NM_000138.4:c.1668G>A (p.Val556=)| NM_000138.4:c.1573C>T (p.Arg525Trp)| NM_000138.4:c.1535C>T (p.Thr512Ile)| NM_000138.4:c.1462T>C (p.Cys488Arg)| NM_000138.4:c.1410delG (p.Ser471Valfs)| NM_000138.4:c.139G>T (p.Gly47Cys)| NM_000138.4:c.1287dup (p.Pro430Thrfs)| NM_000138.4:c.1086C>T (p.Ala362=)| NM_000138.4:c.1079G>A (p.Cys360Tyr)| NC_000015.10:g.(?_48508562)_(48644789_?)del| NC_000015.10:g.(?_48508562)_(48516382_?)del| NC_000015.10:g.(?_48503767)_(48510189_?)del| NC_000015.10:g.(?_48415161)_(48468554_?)del| NC_000015.10:g.(?_48410970)_(48644789_?)del| NC_000015.10:g.(?_48410970)_(48537828_?)del| NC_000015.10:g.(?_48410970)_(48497411_?)del| NM_000138.4:c.2017C>T (p.Pro673Ser)| NM_000138.4:c.6503A>G (p.Asp2168Gly)| NM_000138.4:c.7204+7C>G| NM_000138.4:c.1570dup (p.Thr524Asnfs)| NM_000138.4:c.917delA (p.Asn306Thrfs)| NM_000138.4:c.1533C>T (p.Tyr511=)| NM_000138.4:c.4362C>T (p.Asn1454=)| NM_000138.4:c.1469-5T>G| NM_000138.4:c.4583-5A>C| NM_000138.4:c.1761T>C (p.Cys587=)| NM_000138.4:c.1476T>C (p.Asp492=)| NM_000138.4:c.2376C>T (p.Cys792=)| NM_000138.4:c.5292C>T (p.Pro1764=)| NM_000138.4:c.6342A>C (p.Gly2114=)| NM_000138.4:c.2835C>T (p.Ala945=)| NM_000138.4:c.3054A>G (p.Glu1018=)| NM_000138.4:c.942A>G (p.Lys314=)| NM_000138.4:c.2892C>T (p.Asp964=)| NM_000138.4:c.2628C>T (p.Cys876=)| NM_000138.4:c.2886C>T (p.Tyr962=)| NM_000138.4:c.4089T>C (p.Asp1363=)| NM_000138.4:c.7330+7G>A| NM_000138.4:c.7701C>T (p.Asp2567=)| NM_000138.4:c.1628A>T (p.Asn543Ile)| NM_000138.4:c.5776A>G (p.Asn1926Asp)| NM_000138.4:c.3226A>C (p.Ile1076Leu)| NM_000138.4:c.2714G>A (p.Gly905Glu)| NM_000138.4:c.8270A>G (p.Asp2757Gly)| NM_000138.4:c.5720A>G (p.Asn1907Ser)| NM_000138.4:c.8471C>A (p.Ala2824Asp)| NM_000138.4:c.2657C>T (p.Pro886Leu)| NM_000138.4:c.260A>G (p.His87Arg)| NM_000138.4:c.494G>C (p.Arg165Pro)| NM_000138.4:c.1235T>A (p.Val412Asp)| NM_000138.4:c.1525G>T (p.Gly509Cys)| NM_000138.4:c.6626A>C (p.Glu2209Ala)| NM_000138.4:c.2677+3A>G| NM_000138.4:c.4999G>A (p.Val1667Ile)| NM_000138.4:c.7881dupG (p.Ser2628Glufs)| NM_000138.4:c.3881G>T (p.Gly1294Val)| NM_000138.4:c.4367G>T (p.Cys1456Phe)| NM_000138.4:c.3506G>A (p.Gly1169Asp)| NM_000138.4:c.8051+375G>T| NM_000138.4:c.7235T>C (p.Val2412Ala)| NM_000138.4:c.7421delA (p.Tyr2474Serfs)| NM_000138.4:c.2547C>G (p.Ile849Met)| NM_000138.4:c.5664G>A (p.Met1888Ile)| NM_000138.4:c.124G>C (p.Ala42Pro)| NM_000138.4:c.8393G>A (p.Gly2798Glu)| NM_000138.4:c.2420-8T>A| NM_000138.4:c.6140C>T (p.Ser2047Phe)| NM_000138.4:c.8226G>T (p.Glu2742Asp)| NM_000138.4:c.8327G>A (p.Arg2776Gln)| NM_000138.4:c.2928C>T (p.Arg976=)| NM_000138.4:c.1754G>C (p.Gly585Ala)| NM_000138.4:c.3785G>A (p.Arg1262Lys)| NM_000138.4:c.1837+4C>T| NM_000138.4:c.6397_6399delGAA (p.Glu2133del)| NM_000138.4:c.2952C>A (p.Val984=)| NM_000138.4:c.5582G>A (p.Ser1861Asn)| NM_000138.4:c.1538G>T (p.Cys513Phe)| NM_000138.4:c.4772G>A (p.Gly1591Glu)| NM_000138.4:c.6740A>G (p.Asp2247Gly)| NM_000138.4:c.7980C>G (p.Ser2660Arg)| NM_000138.4:c.5672-87A>G| NM_000138.4:c.8591T>A (p.Met2864Lys)| NM_000138.4:c.6808G>T (p.Gly2270Cys)| NM_000138.4:c.6784C>T (p.Gln2262Ter)| NM_000138.4:c.7848C>G (p.Ile2616Met)| NM_000138.4:c.2305T>C (p.Cys769Arg)| NM_000138.4:c.737-9A>G| NM_000138.4:c.7121A>G (p.His2374Arg)| NM_000138.4:c.7703_7708delTGGACG (p.Val2568_Asp2569del)| NM_000138.4:c.2723G>C (p.Cys908Ser)| NM_000138.4:c.6054C>T (p.Val2018=)| NM_000138.4:c.863-3C>T| NM_000138.4:c.2113+2T>G| NM_000138.4:c.8232G>A (p.Gln2744=)| NM_000138.4:c.1838-6C>T| NM_000138.4:c.273T>C (p.Asp91=)| NM_000138.4:c.7204+3A>G| NM_000138.4:c.6043G>A (p.Asp2015Asn)| NM_000138.4:c.6837G>A (p.Gly2279=)| NM_000138.4:c.75G>A (p.Ala25=)| NM_000138.4:c.1908A>G (p.Arg636=)| NM_000138.4:c.6302C>T (p.Thr2101Met)| NM_000138.4:c.6129G>C (p.Gly2043=)| NM_000138.4:c.5725A>C (p.Ile1909Leu)| NM_000138.4:c.8177G>A (p.Arg2726Gln)| NM_000138.4:c.7317G>C (p.Gly2439=)| NM_000138.4:c.6313+5G>A| NM_000138.4:c.6272G>A (p.Gly2091Asp)| NM_000138.4:c.5142G>A (p.Met1714Ile)| NM_000138.4:c.5066-7C>G| NM_000138.4:c.4816+8_4816+9insACCTTCCTTT| NM_000138.4:c.434G>A (p.Cys145Tyr)| NM_000138.4:c.3411C>T (p.Arg1137=)| NM_000138.4:c.2543C>A (p.Thr848Asn)| NM_000138.4:c.2539+10T>A| NM_000138.4:c.2206A>G (p.Asn736Asp)| NM_000138.4:c.2171T>C (p.Ile724Thr)| NM_000138.4:c.1961-7T>C| NM_000138.4:c.1884C>T (p.Cys628=)| NM_000138.4:c.5918-2A>G| NM_000138.4:c.338C>G (p.Ser113Cys)| NM_000138.4:c.5555A>G (p.Glu1852Gly)| NM_000138.4:c.7994A>G (p.Asn2665Ser)| NM_000138.4:c.7624C>T (p.Gln2542Ter)| NM_000138.4:c.7531T>C (p.Cys2511Arg)| NM_000138.4:c.7529A>G (p.Lys2510Arg)| NM_000138.4:c.6052G>A (p.Val2018Ile)| NM_000138.4:c.5699G>A (p.Cys1900Tyr)| NM_000138.4:c.4437C>G (p.Asp1479Glu)| NM_000138.4:c.4214T>G (p.Leu1405Arg)| NM_000138.4:c.3718G>A (p.Asp1240Asn)| NM_000138.4:c.2638G>A (p.Gly880Ser)| NM_000138.4:c.1589A>G (p.Asp530Gly)| NM_000138.4:c.2930T>G (p.Met977Arg)| NM_000138.4:c.3590-8T>C| NM_000138.4:c.4505G>A (p.Cys1502Tyr)| NM_000138.4:c.4337A>T (p.Asp1446Val)| NM_000138.4:c.2188G>A (p.Asp730Asn)| NM_000138.4:c.7230C>T (p.His2410=)| NM_000138.4:c.3095G>A (p.Cys1032Tyr)| NM_000138.4:c.6801C>G (p.Asn2267Lys)| NM_000138.4:c.4043G>A (p.Cys1348Tyr)| NM_000138.4:c.1278G>A (p.Pro426=)| NM_000138.4:c.2094G>T (p.Pro698=)| NM_000138.4:c.1323A>G (p.Pro441=)| NM_000138.4:c.6025G>A (p.Glu2009Lys)| NM_000138.4:c.8038C>T (p.Arg2680Cys)| NM_000138.4:c.7048A>G (p.Ile2350Val)| NM_000138.4:c.6169C>T (p.Arg2057Ter)| NM_000138.4:c.6705A>C (p.Gly2235=)| NM_000138.4:c.247+10T>C| NM_000138.4:c.7846A>G (p.Ile2616Val)| NM_000138.4:c.3026C>G (p.Pro1009Arg)| NM_000138.4:c.6431A>G (p.Asn2144Ser)| NM_000138.4:c.433T>C (p.Cys145Arg)| NM_000138.4:c.4998C>G (p.Thr1666=)| NM_000138.4:c.1821T>C (p.Asp607=)| NM_000138.4:c.4998C>T (p.Thr1666=)| NM_000138.4:c.7902C>T (p.Pro2634=)| NM_000138.4:c.5423-4G>A| NM_000138.4:c.4443C>T (p.Ser1481=)| NM_000138.4:c.6164-3C>T| NM_000138.4:c.2147G>A (p.Gly716Glu)| NM_000138.4:c.6354C>G (p.Ile2118Met)| NM_000138.4:c.6372A>G (p.Ser2124=)| NM_000138.4:c.3164G>A (p.Cys1055Tyr)| NM_000138.4:c.83A>G (p.Asn28Ser)| NM_000138.4:c.7726C>T (p.Arg2576Cys)| NM_000138.4:c.1289C>T (p.Pro430Leu)| NM_000138.4:c.2187A>C (p.Leu729=)| NM_000138.4:c.8006G>T (p.Gly2669Val)| NM_000138.4:c.139G>A (p.Gly47Ser)| NM_000138.4:c.640G>A (p.Gly214Ser)| NM_000138.4:c.5065+10A>G| NM_000138.4:c.7241G>A (p.Arg2414Gln)| NM_000138.4:c.6288C>T (p.Cys2096=)| NM_000138.4:c.4567C>T (p.Arg1523Ter)| NM_000138.4:c.7828G>A (p.Glu2610Lys)| NM_000138.4:c.1265G>A (p.Gly422Glu)| NM_000138.4:c.8005G>T (p.Gly2669Cys)| NM_000138.4:c.7950T>C (p.Asn2650=)| NM_000138.4:c.6834C>T (p.Pro2278=)| NM_000138.4:c.1846G>A (p.Glu616Lys)| NM_000138.4:c.3193delG (p.Glu1065Lysfs)| NM_000138.4:c.4306G>A (p.Val1436Met)| NM_000138.4:c.3082+8delG| NM_000138.4:c.2055C>T (p.Cys685=)| NM_000138.4:c.8080C>T (p.Arg2694Ter)| NM_000138.4:c.4406G>C (p.Arg1469Pro)| NM_000138.4:c.539-15delA| NM_000138.4:c.4460-8G>A| NM_000138.4:c.266G>A (p.Cys89Tyr)| NM_000138.4:c.5431G>A (p.Glu1811Lys)| NM_000138.4:c.7540G>A (p.Gly2514Arg)| NM_000138.4:c.1546C>T (p.Arg516Ter)| NM_000138.4:c.4621C>T (p.Arg1541Ter)| NM_000138.4:c.3373C>T (p.Arg1125Ter)| NM_000138.4:c.1879C>T (p.Arg627Cys)| NM_000138.4:c.3012C>G (p.Tyr1004Ter)| NM_000138.4:c.247+1G>A| NM_000138.4:c.2920C>T (p.Arg974Cys)| NM_000138.4:c.4588C>T (p.Arg1530Cys)| NM_000138.4:c.6095C>G (p.Thr2032Ser)| NM_000138.4:c.8310C>T (p.His2770=)| NM_000138.4:c.5343G>A (p.Val1781=)| NM_000138.4:c.4786C>T (p.Arg1596Ter)| NM_000138.4:c.3294C>T (p.Asp1098=)| NM_000138.4:c.3058A>G (p.Thr1020Ala)| NM_000138.4:c.2927G>A (p.Arg976His)| NM_000138.4:c.538+4A>G| NM_000138.4:c.3570C>T (p.Pro1190=)| NM_000138.4:c.2953G>A (p.Gly985Arg)| NM_000138.4:c.8185A>C (p.Lys2729Gln)| NM_000138.4:c.2420-8T>C| NM_000138.4:c.3069G>A (p.Lys1023=)| NM_000138.4:c.4640C>T (p.Thr1547Ile)| NM_000138.4:c.3936C>T (p.Ser1312=)| NM_000138.4:c.4615C>T (p.Arg1539Ter)| NM_000138.4:c.5788+10C>A| NM_000138.4:c.7497A>G (p.Leu2499=)| NM_000138.4:c.3463+3A>G| NM_000138.4:c.2855-9C>T| NM_000138.4:c.2175T>C (p.Asn725=)| NM_000138.4:c.6700G>A (p.Val2234Met)| NM_000138.4:c.7754T>C (p.Ile2585Thr)| NM_000138.4:c.6987C>G (p.Asp2329Glu)| NM_000138.4:c.7056C>T (p.Ser2352=)| NM_000138.4:c.783T>C (p.Asn261=)| NM_000138.4:c.3890A>G (p.Glu1297Gly)| NM_000138.4:c.7098C>T (p.Asp2366=)| NM_000138.4:c.6393C>T (p.Cys2131=)| NM_000138.4:c.1029G>A (p.Gly343=)| NM_000138.4:c.7852G>A (p.Gly2618Arg)| NM_000138.4:c.2895G>A (p.Glu965=)| NM_000138.4:c.1371C>G (p.Arg457=)| NM_000138.4:c.3082+6A>G| NM_000138.4:c.3965-8T>C| NM_000138.4:c.3675G>A (p.Pro1225=)| NM_000138.4:c.7819+8A>C| NM_000138.4:c.6888G>A (p.Gln2296=)| NM_000138.4:c.6855T>C (p.Asp2285=)| NM_000138.4:c.8502T>C (p.Thr2834=)| NM_000138.4:c.8283A>T (p.Thr2761=)| NM_000138.4:c.79G>A (p.Ala27Thr)| NM_000138.4:c.6681A>C (p.Ser2227=)| NM_000138.4:c.156G>T (p.Ala52=)| NM_000138.4:c.986T>C (p.Ile329Thr)| NM_000138.4:c.6806T>C (p.Ile2269Thr)| NM_000138.4:c.6594C>T (p.Pro2198=)| NM_000138.4:c.510C>T (p.Tyr170=)| NM_000138.4:c.1746C>T (p.Cys582=)| NM_000138.4:c.1090C>T (p.Arg364Ter)| NM_000138.4:c.306C>T (p.Cys102=)| NM_000138.4:c.4905C>G (p.Thr1635=)| NM_000138.4:c.6832C>T (p.Pro2278Ser)| NM_+1759:1847000138.4:c.-388C>T| NM_000138.4:c.-387_-384delTCTC| NM_000138.4:c.-371T>C| NM_000138.4:c.-319G>T| NM_000138.4:c.-136G>C| NM_000138.4:c.-132A>C| NM_000138.4:c.-98G>T| NM_000138.4:c.-70C>A| NM_000138.4:c.223C>T (p.Pro75Ser)| NM_000138.4:c.396T>C (p.Asp132=)| NM_000138.4:c.589G>C (p.Gly197Arg)| NM_000138.4:c.723G>A (p.Thr241=)| NM_000138.4:c.885T>G (p.Ile295Met)| NM_000138.4:c.1193G>A (p.Arg398Lys)| NM_000138.4:c.1468+4C>A| NM_000138.4:c.2903C>T (p.Thr968Ile)| NM_000138.4:c.2979C>T (p.Cys993=)| NM_000138.4:c.3740A>T (p.Asn1247Ile)| NM_000138.4:c.4336+11G>A| NM_000138.4:c.5405A>G (p.Lys1802Arg)| NM_000138.4:c.5672-15C>G| NM_000138.4:c.5788+4C>A| NM_000138.4:c.6264G>C (p.Lys2088Asn)| NM_000138.4:c.6357G>C (p.Val2119=)| NM_000138.4:c.6801C>T (p.Asn2267=)| NM_000138.4:c.8011C>T (p.Leu2671=)| NM_000138.4:c.*57A>G| NM_000138.4:c.*202_*203delAT| NM_000138.4:c.*254C>T| NM_000138.4:c.*268G>C| NM_000138.4:c.*286C>T| NM_000138.4:c.*314C>T| NM_000138.4:c.*406G>T| NM_000138.4:c.*724A>C| NM_000138.4:c.*730G>T| NM_000138.4:c.*764G>A| NM_000138.4:c.*867G>T| NM_000138.4:c.*938G>T| NM_000138.4:c.*948G>T| NM_000138.4:c.*960delG| NM_000138.4:c.*967C>T| NM_000138.4:c.*987C>T| NM_000138.4:c.*1007G>T| NM_000138.4:c.*1084T>C| NM_000138.4:c.*1228T>C| NM_000138.4:c.*1245C>T| NM_000138.4:c.*1252A>G| NM_000138.4:c.*1298C>G| NM_000138.4:c.*1325T>C| NM_000138.4:c.*1368A>G| NM_000138.4:c.*1396C>T| NM_000138.4:c.*1398G>C| NM_000138.4:c.*1437G>A| NM_000138.4:c.*1477C>A| NM_000138.4:c.*1484C>T| NM_000138.4:c.*1562G>T| NM_000138.4:c.*1575T>G| NM_000138.4:c.*1580G>A| NM_000138.4:c.*1619T>A| NM_000138.4:c.*1635C>A| NM_000138.4:c.*1672G>A| NM_000138.4:c.*1706C>A| NM_000138.4:c.*1720C>T| NM_000138.4:c.*1733A>G| NM_000138.4:c.*1943G>T| NM_000138.4:c.*1949T>C| NM_000138.4:c.*1950dupT| NM_000138.4:c.*1959G>A| NM_000138.4:c.*1989C>T| NM_000138.4:c.*2024A>G| NM_000138.4:c.*2040T>C| NM_000138.4:c.*2078G>T| NM_000138.4:c.*2091G>A| NM_000138.4:c.*2114T>A| NM_000138.4:c.*2153A>G| NM_000138.4:c.*2158G>A| NM_000138.4:c.*2221A>G| NM_000138.4:c.*2260C>A| NM_000138.4:c.*2360C>G| NM_000138.4:c.*2395G>A| NM_000138.4:c.*2398G>T| NM_000138.4:c.*2421C>A| NM_000138.4:c.*2443G>T| NM_000138.4:c.*2524A>G| NM_000138.4:c.*2533C>A| NM_000138.4:c.*2556G>A| NM_000138.4:c.*2578C>T| NM_000138.4:c.*2594G>T| NM_000138.4:c.*2638T>C| NM_000138.4:c.*2674T>A| NM_000138.4:c.1027G>A (p.Gly343Arg)| NM_000138.4:c.4270C>G (p.Pro1424Ala)| NM_000138.4:c.1602T>C (p.Cys534=)| NM_000138.4:c.1837+9T>C| NM_000138.4:c.3171C>T (p.Ser1057=)| NM_000138.4:c.3337+11G>A| NM_000138.4:c.3896C>T (p.Thr1299Met)| NM_000138.4:c.5724A>G (p.Thr1908=)| NM_000138.4:c.8202C>T (p.Asn2734=)| NM_000138.4:c.8227-3C>T| NM_000138.4:c.5917+3A>G| NM_000138.4:c.-176A>T| NM_000138.4:c.2956G>A (p.Ala986Thr)| NM_000138.4:c.4313G>A (p.Ser1438Asn)| NM_000138.4:c.-35C>T| NM_000138.4:c.8071G>A (p.Gly2691Ser)| NM_000138.4:c.7661G>A (p.Arg2554Gln)| NM_000138.4:c.8363C>T (p.Thr2788Met)| NM_000138.4:c.3089A>G (p.Asn1030Ser)| NM_000138.4:c.6314-15G>A| NM_000138.4:c.5296+14G>A| NM_000138.4:c.5066-14dupT| NM_000138.4:c.3423G>A (p.Pro1141=)| NM_000138.4:c.1468+5G>A| NM_000138.4:c.5442C>T (p.Asn1814=)| NM_000138.4:c.3509G>A (p.Arg1170His)| NM_000138.4:c.3464-5G>A| NM_000138.4:c.1875T>C (p.Asn625=)| NM_000138.4:c.8176C>T (p.Arg2726Trp)| NM_000138.4:c.3379G>A (p.Gly1127Ser)| NM_000138.4:c.4253_4259delGCCAGTG (p.Gly1418Alafs)| NM_000138.4:c.8268G>A (p.Trp2756Ter)| NM_000138.4:c.718C>T (p.Arg240Cys)| NM_000138.4:c.364C>T (p.Arg122Cys)| NM_000138.4:c.2581C>T (p.Arg861Ter) PMID: 19725129| PMID: 10694921| PMID: 26787436| PMID: 9236141| ClinVar: 36115| ClinVar: 406312| ClinVar: 163464| ClinVar: 200054| ClinVar: 161245| ClinVar: 200171| ClinVar: 237106| ClinVar: 199960| ClinVar: 42334| ClinVar: 36065| ClinVar: 457272| ClinVar: 457271| ClinVar: 457270| ClinVar: 457269| ClinVar: 457268| ClinVar: 457267| ClinVar: 457266| ClinVar: 457265| ClinVar: 457264| ClinVar: 457263| ClinVar: 457262| ClinVar: 457261| ClinVar: 457260| ClinVar: 457259| ClinVar: 457258| ClinVar: 457257| ClinVar: 457256| ClinVar: 457255| ClinVar: 457254| ClinVar: 457253| ClinVar: 457251| ClinVar: 457250| ClinVar: 457249| ClinVar: 457248| ClinVar: 457247| ClinVar: 457246| ClinVar: 457245| ClinVar: 457244| ClinVar: 457243| ClinVar: 457242| ClinVar: 457241| ClinVar: 457240| ClinVar: 457239| ClinVar: 457238| ClinVar: 457237| ClinVar: 457236| ClinVar: 457235| ClinVar: 457234| ClinVar: 457233| ClinVar: 457232| ClinVar: 457231| ClinVar: 457230| ClinVar: 457229| ClinVar: 457228| ClinVar: 457227| ClinVar: 457226| ClinVar: 457225| ClinVar: 457224| ClinVar: 457223| ClinVar: 457222| ClinVar: 457221| ClinVar: 457220| ClinVar: 457219| ClinVar: 457218| ClinVar: 457217| ClinVar: 457216| ClinVar: 457215| ClinVar: 457214| ClinVar: 457213| ClinVar: 457212| ClinVar: 457210| ClinVar: 457209| ClinVar: 457208| ClinVar: 457207| ClinVar: 457206| ClinVar: 457205| ClinVar: 457204| ClinVar: 457203| ClinVar: 457201| ClinVar: 457200| ClinVar: 457199| ClinVar: 457198| ClinVar: 457197| ClinVar: 457196| ClinVar: 457195| ClinVar: 457194| ClinVar: 457193| ClinVar: 457192| ClinVar: 457191| ClinVar: 457190| ClinVar: 457189| ClinVar: 457188| ClinVar: 457187| ClinVar: 457186| ClinVar: 457185| ClinVar: 457184| ClinVar: 457183| ClinVar: 457182| ClinVar: 457181| ClinVar: 457180| ClinVar: 457179| ClinVar: 457178| ClinVar: 457177| ClinVar: 457176| ClinVar: 457175| ClinVar: 457174| ClinVar: 457173| ClinVar: 457172| ClinVar: 457171| ClinVar: 457170| ClinVar: 457169| ClinVar: 457168| ClinVar: 457167| ClinVar: 457166| ClinVar: 457165| ClinVar: 457164| ClinVar: 457163| ClinVar: 457162| ClinVar: 457161| ClinVar: 457160| ClinVar: 457159| ClinVar: 457158| ClinVar: 457157| ClinVar: 457156| ClinVar: 457155| ClinVar: 457154| ClinVar: 457153| ClinVar: 457152| ClinVar: 457151| ClinVar: 457150| ClinVar: 452287| ClinVar: 449437| ClinVar: 444339| ClinVar: 431982| ClinVar: 419091| ClinVar: 413902| ClinVar: 413901| ClinVar: 413900| ClinVar: 413899| ClinVar: 413898| ClinVar: 413897| ClinVar: 413896| ClinVar: 413895| ClinVar: 413894| ClinVar: 413893| ClinVar: 413892| ClinVar: 413891| ClinVar: 413890| ClinVar: 413889| ClinVar: 413888| ClinVar: 413887| ClinVar: 413886| ClinVar: 413885| ClinVar: 406372| ClinVar: 406371| ClinVar: 406367| ClinVar: 406364| ClinVar: 406361| ClinVar: 406360| ClinVar: 406357| ClinVar: 406356| ClinVar: 406353| ClinVar: 406352| ClinVar: 406350| ClinVar: 406345| ClinVar: 406344| ClinVar: 406343| ClinVar: 406339| ClinVar: 406338| ClinVar: 406334| ClinVar: 406329| ClinVar: 406328| ClinVar: 406327| ClinVar: 406326| ClinVar: 406324| ClinVar: 406321| ClinVar: 406318| ClinVar: 406316| ClinVar: 406309| ClinVar: 406306| ClinVar: 406305| ClinVar: 406304| ClinVar: 406302| ClinVar: 406299| ClinVar: 406298| ClinVar: 406297| ClinVar: 406295| ClinVar: 406291| ClinVar: 406290| ClinVar: 406289| ClinVar: 406288| ClinVar: 406285| ClinVar: 406283| ClinVar: 406281| ClinVar: 406280| ClinVar: 406279| ClinVar: 406276| ClinVar: 406274| ClinVar: 406273| ClinVar: 406272| ClinVar: 406270| ClinVar: 406268| ClinVar: 406264| ClinVar: 389343| ClinVar: 388482| ClinVar: 388201| ClinVar: 384222| ClinVar: 377863| ClinVar: 377859| ClinVar: 377856| ClinVar: 372922| ClinVar: 289267| ClinVar: 284076| ClinVar: 281713| ClinVar: 264230| ClinVar: 264000| ClinVar: 263463| ClinVar: 263396| ClinVar: 237107| ClinVar: 237103| ClinVar: 237102| ClinVar: 237101| ClinVar: 237096| ClinVar: 237095| ClinVar: 237093| ClinVar: 237091| ClinVar: 237088| ClinVar: 237087| ClinVar: 237086| ClinVar: 237085| ClinVar: 237084| ClinVar: 237082| ClinVar: 237081| ClinVar: 222617| ClinVar: 222600| ClinVar: 220855| ClinVar: 200124| ClinVar: 200119| ClinVar: 200115| ClinVar: 200114| ClinVar: 200073| ClinVar: 200066| ClinVar: 200044| ClinVar: 200041| ClinVar: 200024| ClinVar: 200000| ClinVar: 199973| ClinVar: 195848| ClinVar: 137306| ClinVar: 42363| ClinVar: 42358| ClinVar: 42299| ClinVar: 36113| ClinVar: 16462| ClinVar: 457252| ClinVar: 457202| ClinVar: 381538| ClinVar: 264529| ClinVar: 237080| ClinVar: 200190| ClinVar: 200127| ClinVar: 200101| ClinVar: 200076| ClinVar: 199951| ClinVar: 178035| ClinVar: 161237| ClinVar: 36061| ClinVar: 16431| ClinVar: 457211| ClinVar: 381319| ClinVar: 377858| ClinVar: 281682| ClinVar: 263699| ClinVar: 237098| ClinVar: 237090| ClinVar: 200074| ClinVar: 199989| ClinVar: 180039| ClinVar: 42399| ClinVar: 42327| ClinVar: 36130| ClinVar: 36118| ClinVar: 406265| ClinVar: 379576| ClinVar: 263642| ClinVar: 200029| ClinVar: 199956| ClinVar: 178929| ClinVar: 161234| ClinVar: 137310| ClinVar: 42365| ClinVar: 264272| ClinVar: 200178| ClinVar: 200125| ClinVar: 42437| ClinVar: 42410| ClinVar: 42294| ClinVar: 36064| ClinVar: 42356| ClinVar: 36062| ClinVar: 36044| ClinVar: 163461| ClinVar: 42361| ClinVar: 36087| ClinVar: 36075| ClinVar: 200141| ClinVar: 200063| ClinVar: 178034| ClinVar: 42285| ClinVar: 200052| ClinVar: 179632| ClinVar: 163480| ClinVar: 42324| ClinVar: 42307| ClinVar: 39667| ClinVar: 36078| ClinVar: 316369| ClinVar: 316360| ClinVar: 42381| ClinVar: 36082| ClinVar: 42330| ClinVar: 42325| ClinVar: 42321| ClinVar: 316391| ClinVar: 316377| ClinVar: 200008| ClinVar: 199954| ClinVar: 137302| ClinVar: 316380| ClinVar: 42367| ClinVar: 237089| ClinVar: 42366| ClinVar: 42392| ClinVar: 137313| ClinVar: 42337| ClinVar: 42319| ClinVar: 42298| ClinVar: 36104| ClinVar: 163462| ClinVar: 316365| ClinVar: 263431| ClinVar: 237105| ClinVar: 200027| ClinVar: 199952| ClinVar: 137311| ClinVar: 137299| ClinVar: 42434| ClinVar: 42320| ClinVar: 316386| ClinVar: 137304| ClinVar: 36072| ClinVar: 36071| ClinVar: 42433| ClinVar: 42413| ClinVar: 42412| ClinVar: 36132| ClinVar: 36128| ClinVar: 163486| ClinVar: 42408| ClinVar: 42287| ClinVar: 36133| ClinVar: 36107| ClinVar: 36103| ClinVar: 36086| ClinVar: 36041| ClinVar: 199963| ClinVar: 137314| ClinVar: 36084| ClinVar: 36108| ClinVar: 316401| ClinVar: 316400| ClinVar: 316399| ClinVar: 316398| ClinVar: 316397| ClinVar: 316396| ClinVar: 316395| ClinVar: 316394| ClinVar: 316393| ClinVar: 316392| ClinVar: 316390| ClinVar: 316389| ClinVar: 316388| ClinVar: 316387| ClinVar: 316385| ClinVar: 316382| ClinVar: 316381| ClinVar: 316376| ClinVar: 316374| ClinVar: 316373| ClinVar: 316372| ClinVar: 316370| ClinVar: 316368| ClinVar: 316367| ClinVar: 316366| ClinVar: 316363| ClinVar: 316359| ClinVar: 316358| ClinVar: 316357| ClinVar: 316356| ClinVar: 316355| ClinVar: 316354| ClinVar: 316353| ClinVar: 316352| ClinVar: 316351| ClinVar: 316350| ClinVar: 316349| ClinVar: 316348| ClinVar: 316347| ClinVar: 316346| ClinVar: 316345| ClinVar: 316344| ClinVar: 316343| ClinVar: 316342| ClinVar: 316341| ClinVar: 316340| ClinVar: 316339| ClinVar: 316338| ClinVar: 316337| ClinVar: 316336| ClinVar: 316335| ClinVar: 316334| ClinVar: 316333| ClinVar: 316332| ClinVar: 316331| ClinVar: 316330| ClinVar: 316329| ClinVar: 316328| ClinVar: 316327| ClinVar: 316326| ClinVar: 316325| ClinVar: 316324| ClinVar: 316323| ClinVar: 316322| ClinVar: 316321| ClinVar: 316320| ClinVar: 316319| ClinVar: 316318| ClinVar: 316317| ClinVar: 316316| ClinVar: 316315| ClinVar: 316314| ClinVar: 316313| ClinVar: 316312| ClinVar: 316311| ClinVar: 316310| ClinVar: 316309| ClinVar: 316308| ClinVar: 316307| ClinVar: 316306| ClinVar: 316305| ClinVar: 316304| ClinVar: 316303| ClinVar: 316302| ClinVar: 316301| ClinVar: 316300| ClinVar: 316299| ClinVar: 316298| ClinVar: 316297| ClinVar: 316296| ClinVar: 161244| ClinVar: 42355| ClinVar: 316384| ClinVar: 316383| ClinVar: 316379| ClinVar: 316378| ClinVar: 316375| ClinVar: 316371| ClinVar: 316362| ClinVar: 316361| ClinVar: 199950| ClinVar: 137300| ClinVar: 36060| ClinVar: 155792| ClinVar: 137301| ClinVar: 42439| ClinVar: 316364| ClinVar: 263832| ClinVar: 263632| ClinVar: 228686| ClinVar: 137309| ClinVar: 178599| ClinVar: 42335| ClinVar: 42284| ClinVar: 42384| ClinVar: 16451| ClinVar: 137305| ClinVar: 42297| ClinVar: 16445| ClinVar: 16443| ClinVar: 41409| ClinVar: 16424| ClinVar: 16461| ClinVar: 16440| ClinVar: 265401 case report prognosis and progress| conflicting interpretations of pathogenicity "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Marfan syndrome MYH11 4629 NM_002474.2:c.3291C>T (p.Ala1097=)| NM_001040113.1:c.2517G>C (p.Trp839Cys) ClinVar: 201061| ClinVar: 180417 uncertain significance Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Marfan syndrome MYLK 4638 NM_053025.3:c.2474C>T (p.Pro825Leu)| NM_053026.3:c.4598A>G (p.Lys1533Arg) ClinVar: 264351| ClinVar: 180445 uncertain significance "Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis." human Marfan syndrome NOTCH1 4851 NM_017617.4:c.3901+3G>A ClinVar: 155828 likely benign Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.. human Marfan syndrome PTPN11 5781 c.836A>G (p.Y279C) PMID: 19725129 case report Cytoplasm. Nucleus. human Marfan syndrome SLC2A10 81031 NM_030777.3:c.462C>G (p.Asn154Lys) ClinVar: 222823 uncertain significance "Endomembrane system ; Multi-pass membrane protein. Cytoplasm, perinuclear region." human Marfan syndrome SMAD2 4087 "c.1369G>A, p.Gly457Arg" PMID: 26247899 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081).." human Marfan syndrome TGFBR1 7046 NM_004612.3:c.935G>A (p.Gly312Asp) ClinVar: 222837 conflicting interpretations of pathogenicity "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Marfan syndrome TGFBR2 7048 NM_003242.5:c.*2483T>G| NM_003242.5:c.*2437T>A| NM_003242.5:c.*2425C>A| NM_003242.5:c.*2340T>C| NM_003242.5:c.*2335T>A| NM_003242.5:c.*2332A>C| NM_003242.5:c.*2248dupT| NM_003242.5:c.*2085T>A| NM_003242.5:c.*2066G>A| NM_003242.5:c.*2065C>T| NM_003242.5:c.*1998G>A| NM_003242.5:c.*1887G>T| NM_003242.5:c.*1886G>T| NM_003242.5:c.*1880G>A| NM_003242.5:c.*1860C>A| NM_003242.5:c.*1859G>T| NM_003242.5:c.*1842G>T| NM_003242.5:c.*1833A>C| NM_003242.5:c.*1815C>T| NM_003242.5:c.*1809A>G| NM_003242.5:c.*1682A>G| NM_003242.5:c.*1572A>G| NM_003242.5:c.*1521G>A| NM_003242.5:c.*1507A>G| NM_003242.5:c.*1354C>T| NM_003242.5:c.*1326G>A| NM_003242.5:c.*1285A>T| NM_003242.5:c.*1211A>T| NM_003242.5:c.*1201C>T| NM_003242.5:c.*1075C>T| NM_003242.5:c.*997T>A| NM_003242.5:c.*989G>A| NM_003242.5:c.*988C>T| NM_003242.5:c.*859G>A| NM_003242.5:c.*858C>T| NM_003242.5:c.*848C>T| NM_003242.5:c.*835C>A| NM_003242.5:c.*799A>G| NM_003242.5:c.*793G>T| NM_003242.5:c.*747C>G| NM_003242.5:c.*742C>T| NM_003242.5:c.*713G>T| NM_003242.5:c.*704A>G| NM_003242.5:c.*599C>A| NM_003242.5:c.*598G>T| NM_003242.5:c.*443A>G| NM_003242.5:c.*352A>G| NM_003242.5:c.*330C>A| NM_003242.5:c.*330_*331delCT| NM_003242.5:c.*328A>C| NM_003242.5:c.*312A>T| NM_003242.5:c.*326_*329dupATAT| NM_003242.5:c.*226C>A| NM_003242.5:c.*149A>T| NM_003242.5:c.*105G>A| NM_003242.5:c.*86A>G| NM_003242.5:c.*33A>G| NM_003242.5:c.1525-10C>G| NM_003242.5:c.1470C>T (p.Asn490=)| NM_003242.5:c.1042C>T (p.Arg348Cys)| NM_003242.5:c.736C>T (p.Leu246=)| NM_003242.5:c.621G>A (p.Arg207=)| NM_003242.5:c.472C>T (p.Pro158Ser)| NM_003242.5:c.-18C>A| NM_003242.5:c.-117G>A| NM_003242.5:c.-128C>G| NM_003242.5:c.-193G>A| NM_003242.5:c.-228C>A| NM_003242.5:c.-249T>G| NM_003242.5:c.-302A>G| NM_003242.5:c.-307C>T| NM_003242.5:c.-344C>A| NM_003242.5:c.-371A>C| NM_003242.5:c.696C>T (p.Ala232=)| NM_003242.5:c.690G>A (p.Thr230=)| NM_003242.5:c.1208G>A (p.Arg403His)| NM_003242.5:c.915C>T (p.Leu305=)| NM_003242.5:c.1525-8C>T| NM_003242.5:c.984C>T (p.His328=)| NM_003242.5:c.367A>T (p.Met123Leu)| NM_001024847.2:c.1732T>A (p.Ser578Thr)| NM_003242.5:c.1159G>A (p.Val387Met)| NM_003242.5:c.1602G>A (p.Val534=)| NM_003242.5:c.1167C>T (p.Asn389=)| NM_003242.5:c.455-4T>A| NM_003242.5:c.263+7A>G| NM_003242.5:c.571G>A (p.Val191Ile)| NM_003242.5:c.1062C>T (p.Leu354=)| NM_003242.5:c.1266A>G (p.Ala422=)| NM_003242.5:c.944C>T (p.Thr315Met)| NM_003242.5:c.999A>G (p.Leu333=)| NM_003242.5:c.1119G>A (p.Met373Ile) ClinVar: 344720| ClinVar: 344719| ClinVar: 344718| ClinVar: 344717| ClinVar: 344716| ClinVar: 344715| ClinVar: 344714| ClinVar: 344713| ClinVar: 344712| ClinVar: 344711| ClinVar: 344710| ClinVar: 344709| ClinVar: 344708| ClinVar: 344707| ClinVar: 344706| ClinVar: 344705| ClinVar: 344704| ClinVar: 344703| ClinVar: 344702| ClinVar: 344701| ClinVar: 344700| ClinVar: 344699| ClinVar: 344698| ClinVar: 344697| ClinVar: 344696| ClinVar: 344695| ClinVar: 344694| ClinVar: 344693| ClinVar: 344692| ClinVar: 344691| ClinVar: 344690| ClinVar: 344689| ClinVar: 344688| ClinVar: 344687| ClinVar: 344686| ClinVar: 344685| ClinVar: 344684| ClinVar: 344683| ClinVar: 344682| ClinVar: 344681| ClinVar: 344680| ClinVar: 344679| ClinVar: 344678| ClinVar: 344677| ClinVar: 344676| ClinVar: 344675| ClinVar: 344674| ClinVar: 344673| ClinVar: 344672| ClinVar: 344671| ClinVar: 344670| ClinVar: 344669| ClinVar: 344668| ClinVar: 344667| ClinVar: 344666| ClinVar: 344665| ClinVar: 344664| ClinVar: 344663| ClinVar: 344662| ClinVar: 344661| ClinVar: 344660| ClinVar: 344657| ClinVar: 344656| ClinVar: 344655| ClinVar: 344654| ClinVar: 344653| ClinVar: 344652| ClinVar: 344651| ClinVar: 344650| ClinVar: 344649| ClinVar: 344648| ClinVar: 344647| ClinVar: 344646| ClinVar: 344659| ClinVar: 344658| ClinVar: 213908| ClinVar: 213906| ClinVar: 213910| ClinVar: 36869| ClinVar: 213939| ClinVar: 161394| ClinVar: 44651| ClinVar: 137637| ClinVar: 44652| ClinVar: 44658| ClinVar: 36867| ClinVar: 137635| ClinVar: 137636| ClinVar: 36865| ClinVar: 12502| ClinVar: 44661| ClinVar: 36859 conflicting interpretations of pathogenicity Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Thoracic aortic aneurysm ACAT2 39 p.Lys328Asn PMID: 25225139 "case report, de novo mutation" Cytoplasm. human Thoracic aortic aneurysm ACE 1636 I/D polymorphysm PMID: 2245237 "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Thoracic aortic aneurysm ACTA2 59 "NM_001613.2:c.115C-T, NP_001604.1:p.T108M| NM_000138.4:c.986T-C, NP_001604.1:p.G270E| p.R118Q| NM_001613.2:c.115C>T (p.Arg39Cys)| NM_001613.2:c.554G>A (p.Arg185Gln)| NM_001613.2:c.977C>A (p.Thr326Asn)| NM_001613.3:c.445C>T (p.Arg149Cys)| NM_001613.2:c.773G>A (p.Arg258His)| NM_001613.2:c.772C>T (p.Arg258Cys)| NM_001613.2:c.78C>T (p.Asp26=)| NM_001613.2:c.720G>C (p.Lys240Asn)| NM_001613.3:c.73G>A (p.Gly25Arg)| NM_001613.3:c.461T>C (p.Val154Ala)| NM_001613.3:c.452C>A (p.Thr151Asn)| NM_001613.3:c.129+4A>G| NM_001613.2:c.215C>T (p.Pro72Leu)| NM_001613.2:c.410C>T (p.Ala137Val)| NM_001613.2:c.203C>T (p.Thr68Ile)| NM_001613.2:c.324G>T (p.Thr108=)| NM_001613.2:c.138G>A (p.Met46Ile)| NM_001613.2:c.145A>G (p.Met49Val)| NM_001613.2:c.635G>A (p.Arg212Gln)| NM_001613.3:c.1047C>T (p.Ala349=)| NM_001613.2:c.786C>T (p.Thr262=)| NM_001613.2:c.903A>G (p.Leu301=)| NM_001613.2:c.417G>A (p.Gln139=)| NM_001613.2:c.1132T>C (p.Ter378Gln)| NM_001613.2:c.478G>A (p.Gly160Ser)| NM_001613.2:c.353G>A (p.Arg118Gln)| NM_001613.2:c.807C>T (p.Ile269=)| NM_001613.2:c.936C>T (p.Ala312=)| NM_001613.2:c.763G>A (p.Glu255Lys)| NM_001613.2:c.116G>A (p.Arg39His)| NM_001613.2:c.536G>A (p.Arg179His)" PMID: 23099432| ClinVar: 65449| ClinVar: 381615| ClinVar: 263430| ClinVar: 18276| ClinVar: 18277| ClinVar: 18278| ClinVar: 263386| ClinVar: 162701| ClinVar: 469086| ClinVar: 469085| ClinVar: 469084| ClinVar: 469083| ClinVar: 404178| ClinVar: 404177| ClinVar: 404176| ClinVar: 239037| ClinVar: 239036| ClinVar: 65450| ClinVar: 44219| ClinVar: 469082| ClinVar: 412815| ClinVar: 412814| ClinVar: 301508| ClinVar: 239035| ClinVar: 199672| ClinVar: 199670| ClinVar: 380616| ClinVar: 263863| ClinVar: 199674| ClinVar: 199666| ClinVar: 29598 case report| familial aneurysm conflicting interpretations of pathogenicity "Cytoplasm, cytoskeleton." human Thoracic aortic aneurysm ACTA2-AS1 100132116 NM_001613.2:c.977C>A (p.Thr326Asn)| NM_001613.2:c.773G>A (p.Arg258His)| NM_001613.2:c.772C>T (p.Arg258Cys)| NM_001613.2:c.720G>C (p.Lys240Asn)| NM_001613.2:c.635G>A (p.Arg212Gln)| NM_001613.3:c.1047C>T (p.Ala349=)| NM_001613.2:c.786C>T (p.Thr262=)| NM_001613.2:c.903A>G (p.Leu301=)| NM_001613.2:c.1132T>C (p.Ter378Gln)| NM_001613.2:c.807C>T (p.Ile269=)| NM_001613.2:c.936C>T (p.Ala312=)| NM_001613.2:c.763G>A (p.Glu255Lys) ClinVar: 263430| ClinVar: 18277| ClinVar: 18278| ClinVar: 162701| ClinVar: 44219| ClinVar: 469082| ClinVar: 412815| ClinVar: 412814| ClinVar: 239035| ClinVar: 380616| ClinVar: 263863| ClinVar: 199674 familial aneurysm conflicting interpretations of pathogenicity human Thoracic aortic aneurysm AGT 183 -6G>A PMID: 18600213 in hypertensive patients protective Secreted. human Thoracic aortic aneurysm COL3A1 1281 NM_000090.3:c.3008T>C (p.Leu1003Pro) ClinVar: 492834 familial aneurysm uncertain significance "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm CTGF 1490 aortic wall: increase in protein level| increase in RNA level| aneurysm tissue: increase in protein level| increase in RNA level PMID: 23508392| PMID: 21609573 ascending thoracic aortic aneurysms "Secreted, extracellular space, extracellular matrix. Secreted." human Thoracic aortic aneurysm CXCL10 3627 plasma: increase in protein level PMID: 21962843 Secreted. human Thoracic aortic aneurysm CXCL11 6373 plasma: increase in protein level PMID: 21962843 Secreted. human Thoracic aortic aneurysm CXCL9 4283 plasma: increase in protein level PMID: 21962843 Secreted. human Thoracic aortic aneurysm EDA 1896 aorta: decrease in RNA level PMID: 21148425 in patients with bicuspid aortic valve (BAV) "Cell membrane ; Single-pass type II membrane protein. Ectodysplasin-A, secreted form: Secreted." human Thoracic aortic aneurysm FBN1 2200 "NM_000138.4:c.3075delC| NM_004612.2:c.1199A-G, NP_000129.3:p.G2573R| rs112369155, NM_003242.5:c.1280C-T, NP_000129.3:p.G2372V| NM_001024847.2:c.166C-A, NP_000129.3:p.C937R| NM_000138.4:c.7099G>A (p.Gly2367Arg)" PMID: 19941982| PMID: 25907466| PMID: 19336958| PMID: 18435798| ClinVar: 492831 familial aneurysm uncertain significance "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm FBN2 2201 NM_001999.3:c.2392G>A (p.Gly798Ser) ClinVar: 492832 familial aneurysm uncertain significance "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm FLNA 2316 "NM_001456.3:c.413T-G, NP_001447.2:p.L138R| NM_001456.3:c.3995A>G (p.Asp1332Gly)" PMID: 25907466| ClinVar: 264534 familial aneurysm conflicting interpretations of pathogenicity "Cytoplasm, cell cortex. Cytoplasm, cytoskeleton." human Thoracic aortic aneurysm FOXE3 2301 NM_012186.2:c.457G>C (p.Asp153His)| NM_012186.2:c.410G>A (p.Gly137Asp) ClinVar: 375651| ClinVar: 375652 familial aneurysm risk factor Nucleus. human Thoracic aortic aneurysm GPX1 2876 C>T (Pro198Leu) PMID: 18600213 in hypertensive patients protective Cytoplasm. human Thoracic aortic aneurysm HIF1A-AS1 100750246 aortic media: decrease in RNA level PMID: 24875884 regulated by BRG1 human Thoracic aortic aneurysm HOTAIR 100124700 aortic tissue: decrease in RNA level PMID: 28757056 sporadic aneurysm human Thoracic aortic aneurysm HSPA8 3312 -110A>C PMID: 18600213 in hypertensive patients protective "Cytoplasm. Melanosome. Nucleus, nucleolus. Cell membrane. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Translocates rapidly from the cytoplasm to the nuclei, and especially to the nucleoli, upon heat shock." human Thoracic aortic aneurysm IFNG 3458 plasma: increase in protein level PMID: 21962843 Secreted. human Thoracic aortic aneurysm IL6 3569 aorta: increase in protein level PMID: 17182950 Secreted. human Thoracic aortic aneurysm LINC01389 102724077 NM_012186.2:c.457G>C (p.Asp153His)| NM_012186.2:c.410G>A (p.Gly137Asp) ClinVar: 375651| ClinVar: 375652 familial aneurysm risk factor human Thoracic aortic aneurysm LOX 4015 NM_002317.6:c.125G>A (p.Trp42Ter)| NM_002317.6:c.800A>C (p.Gln267Pro)| NM_002317.6:c.839G>T (p.Ser280Ile)| NM_002317.6:c.893T>G (p.Met298Arg) ClinVar: 267292| ClinVar: 267293| ClinVar: 267291| ClinVar: 228806 familial aneurysm pathogenic| likely pathogenic "Secreted. Secreted, extracellular space." human Thoracic aortic aneurysm MAT2A 4144 "NM_002474.2:c.1502G-A, NP_005902.1:p.R356H| NM_002474.2:c.2005C-T, NP_005902.1:p.E344A| p.Glu344Ala| p.Arg356His " PMID: NO ID| PMID: 25557781 human Thoracic aortic aneurysm MFAP5 8076 "c.341G>A, p.Arg114Gln| NM_003480.3:c.62G>T (p.Trp21Leu)| NM_003480.3:c.472C>T (p.Arg158Ter)" PMID: 26854089| ClinVar: 162200| ClinVar: 162199 familial aneurysm pathogenic| uncertain significance "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm MIR1-1 406904 "miRs -1, -21, -29a, -133a, and -486 showed decreased expression in Thoracic Aortic Aneurysm compared to normal aortic specimens. A significant relationship between miR expression levels (miRs -1, -21, -29a, and -133a) and aortic diameter was identified" PMID: 22010139 human Thoracic aortic aneurysm MIR1-2 406905 "miRs -1, -21, -29a, -133a, and -486 showed decreased expression in Thoracic Aortic Aneurysm compared to normal aortic specimens. A significant relationship between miR expression levels (miRs -1, -21, -29a, and -134a) and aortic diameter was identified" PMID: 22010139 human Thoracic aortic aneurysm MIR133A1 406922 "miRs -1, -21, -29a, -133a, and -486 showed decreased expression in Thoracic Aortic Aneurysm compared to normal aortic specimens. A significant relationship between miR expression levels (miRs -1, -21, -29a, and -135a) and aortic diameter was identified" PMID: 22010139 human Thoracic aortic aneurysm MIR133A2 406923 "miRs -1, -21, -29a, -133a, and -486 showed decreased expression in Thoracic Aortic Aneurysm compared to normal aortic specimens. A significant relationship between miR expression levels (miRs -1, -21, -29a, and -136a) and aortic diameter was identified" PMID: 22010139 human Thoracic aortic aneurysm MIR21 406991 "aortic tissue: decrease in RNA level| miRs -1, -21, -29a, -133a, and -486 showed decreased expression in Thoracic Aortic Aneurysm compared to normal aortic specimens. A significant relationship between miR expression levels (miRs -1, -21, -29a, and -133a) and aortic diameter was identified" PMID: 22010139 human Thoracic aortic aneurysm MIR29A 407021 "aortic tissue: decrease in RNA level| dysregulated| miRs -1, -21, -29a, -133a, and -486 showed decreased expression in Thoracic Aortic Aneurysm compared to normal aortic specimens. A significant relationship between miR expression levels (miRs -1, -21, -29a, and -133a) and aortic diameter was identified" PMID: 22010139| PMID: 21334170 in negative correlation with the size of aneurysm human Thoracic aortic aneurysm MIR29B1 407024 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR29B2 407025 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR29C 407026 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR30A 407029 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR30B 407030 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR30C1 407031 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR30C2 407032 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR30D 407033 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MIR30E 407034 ascending aorta: dysregulated PMID: 21334170 human Thoracic aortic aneurysm MMP1 4312 rs514921| -1607 1G/2G| -519 A/G| -340 T/C PMID: 21964541| PMID: 23603351 "progress and prognosis (smaller diameter) | correlates with BAV, a symptom of TAA" "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm MMP14 4323 aortic intima/media and adventitia: increase in RNA level PMID: 21955474 Membrane ; Single-pass type I membrane protein. Melanosome. Cytoplasm. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Forms a complex with BST2 and localizes to the cytoplasm. human Thoracic aortic aneurysm MMP19 4327 aortic intima/media and adventitia: increase in RNA level PMID: 21955474 "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm MMP9 4318 aorta: increase in protein level| aneurysm wall: increase in RNA level PMID: 25339161| PMID: 23295196 "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm MYH11 4629 "NM_002474.2:c.3651+5_3651+11delTGCTTTTinsG| rs267606902, NM_003036.3:c.103C-T, NP_002465.1:p.R712Q| NM_003036.3:c.347G-A, NP_002465.1:p.R1583Q| rs142546324, NM_003036.3:c.100G-A, NP_002465.1:p.R1758Q| rs201831933, NM_003036.3:c.101G-A, NP_002465.1:p.L1264P| rs16967494, NM_005902.3:c.782C-T, NP_002465.1:p.A1234T| rs397514037| p.R1590Q| p.E1899D| 5bp 3' to EX27 splice mutation| NM_001040113.1:c.2243T>C (p.Met748Thr)| NM_001040113.1:c.5197G>A (p.Ala1733Thr)| NM_001040113.1:c.4769G>A (p.Arg1590Gln)| NM_001040113.1:c.4417A>C (p.Lys1473Gln)| NM_022844.2:c.2135G>A (p.Arg712Gln)| NM_022844.2:c.[4578+1G>T;5273G>A]| Multiple alleles| NM_002474.2:c.3791T>C (p.Leu1264Pro)| NM_002474.2:c.5499G>C (p.Glu1833Asp)| NM_002474.2:c.2058+10G>A| NM_002474.2:c.1575+8delG| NM_022844.2:c.5787-11_5787-8delCTCT| NM_002474.2:c.3651+6_3651+11delGCTTTT| NM_002474.2:c.3766A>C (p.Lys1256Gln)| NM_001040113.1:c.294A>C (p.Glu98Asp)| NM_002474.2:c.3651+5T>G| NM_001143979.1:c.948-5858G>A| NM_002474.2:c.3910A>C (p.Ile1304Leu)| NM_001040113.1:c.1934C>T (p.Ser645Leu)| NM_002474.2:c.5800A>T (p.Thr1934Ser)| NM_001040113.1:c.1461C>T (p.Asn487=)| NM_001040113.1:c.1590G>A (p.Glu530=)| NM_001040113.1:c.730G>A (p.Asp244Asn)| NM_001040113.1:c.63C>T (p.Ile21=)| NM_001040113.1:c.598T>G (p.Ser200Ala)| NM_001040113.1:c.3777T>G (p.His1259Gln)| NM_001040113.1:c.3715G>C (p.Glu1239Gln)| NM_001040113.1:c.3615G>A (p.Arg1205=)| NM_001040113.1:c.3451C>A (p.Leu1151Ile)| NM_001040113.1:c.3400C>G (p.Leu1134Val)| NM_001040113.1:c.33G>T (p.Glu11Asp)| NM_001040113.1:c.3314+7G>A| NM_001040113.1:c.3292G>C (p.Glu1098Gln)| NM_001040113.1:c.2881-8C>A| NM_001040113.1:c.2674-6G>C| NM_001040113.1:c.2467A>T (p.Met823Leu)| NM_001040113.1:c.2363A>T (p.Glu788Val)| NM_001040113.1:c.2361G>A (p.Glu787=)| NM_001040113.1:c.2234A>G (p.Lys745Arg)| NM_001040113.1:c.2219C>T (p.Ala740Val)| NM_001040113.1:c.2011C>G (p.Leu671Val)| NM_001040113.1:c.2002C>G (p.Leu668Val)| NM_001040113.1:c.1989G>A (p.Leu663=)| NM_001040113.1:c.1678C>T (p.Leu560=)| NM_001040113.1:c.1303A>G (p.Thr435Ala)| NM_001040113.1:c.120G>A (p.Ser40=)| NC_000016.10:g.(?_15823235)_(15838272_?)del| NM_001040113.1:c.861A>T (p.Thr287=)| NM_001040113.1:c.3249G>A (p.Ala1083=)| NM_001040113.1:c.282G>T (p.Thr94=)| NM_001040113.1:c.1423-6G>A| NM_001040113.1:c.78C>G (p.Ala26=)| NM_001040113.1:c.2220G>A (p.Ala740=)| NM_001040113.1:c.2466C>T (p.Ala822=)| NM_001040113.1:c.2463C>T (p.Thr821=)| NM_001040113.1:c.2258C>G (p.Ala753Gly)| NM_001040113.1:c.3863A>T (p.Lys1288Ile)| NM_001040113.1:c.488G>A (p.Arg163Gln)| NM_001040113.1:c.1844A>G (p.Asn615Ser)| NM_001040113.1:c.2070C>A (p.His690Gln)| NM_001040113.1:c.2313G>T (p.Gly771=)| NM_001040113.1:c.3464T>A (p.Leu1155Gln)| NM_001040113.1:c.654C>T (p.Tyr218=)| NM_001040113.1:c.3775C>T (p.His1259Tyr)| NM_001040113.1:c.3654G>C (p.Gln1218His)| NM_001040113.1:c.53A>G (p.Lys18Arg)| NM_001040113.1:c.3842C>G (p.Ala1281Gly)| NM_001040113.1:c.3219C>G (p.Asp1073Glu)| NM_001040113.1:c.1034_1036delTCA (p.Phe345_Ser346delinsCys)| NM_001040113.1:c.3145C>T (p.Arg1049Trp)| NM_001040113.1:c.2036C>T (p.Thr679Met)| NM_002474.2:c.2802G>A (p.Glu934=)| NM_002474.2:c.471C>T (p.Ile157=)| NM_001040113.1:c.690G>A (p.Pro230=)| NM_001040113.1:c.2862G>T (p.Lys954Asn)| NM_001040113.1:c.1595C>T (p.Pro532Leu)| NM_001040113.1:c.1447A>G (p.Ile483Val)| NM_001040113.1:c.1270-6_1270-5dupCT| NM_001040113.1:c.2120G>T (p.Arg707Leu)| NM_001040113.1:c.2070C>T (p.His690=)| NM_001040113.1:c.5822A>G (p.Gln1941Arg)| NM_001040113.1:c.5456_5461dupTCAAGT (p.Lys1820_Ser1821insPheLys)| NM_001040113.1:c.5073C>G (p.Ser1691Arg)| NM_001040113.1:c.3443_3491del49 (p.Lys1148Thrfs)| NM_001040113.1:c.2830_2831delAG (p.Arg944Glyfs)| NM_002474.2:c.2648C>T (p.Ser883Leu)| NM_001040113.1:c.3672+5_3672+11delTGCTTTTinsG| NM_002474.2:c.1212G>C (p.Gly404=)| NM_001143979.1:c.948-4894G>A| NM_001143979.1:c.948-5828C>T| NM_002474.2:c.4681G>A (p.Ala1561Thr)| NM_002474.2:c.217A>C (p.Lys73Gln)| NM_001040113.1:c.5294G>A (p.Arg1765Gln)| NM_001040113.1:c.4386+10G>A| NM_001040113.1:c.5832G>A (p.Ser1944=)| NM_001040113.1:c.5808-9_5808-8delCT| NM_001040113.1:c.5525+7G>A| NM_001040113.1:c.5316+10G>A| NM_001040113.1:c.5305G>A (p.Ala1769Thr)| NM_001040113.1:c.5292C>A (p.Asp1764Glu)| NM_001040113.1:c.5236G>A (p.Ala1746Thr)| NM_001040113.1:c.5116G>A (p.Ala1706Thr)| NM_001040113.1:c.5113G>A (p.Ala1705Thr)| NM_001040113.1:c.4909G>C (p.Glu1637Gln)| NM_001040113.1:c.4869T>C (p.Ala1623=)| NM_001040113.1:c.4836G>A (p.Leu1612=)| NM_001040113.1:c.4812+9T>C| NM_001040113.1:c.4684C>T (p.Leu1562=)| NM_001040113.1:c.4682_4702dup (p.Asp1567_Ala1568insGluLeuGlnAlaThrGluAsp)| NM_001040113.1:c.4554C>T (p.Ala1518=)| NM_001040113.1:c.4036C>T (p.Arg1346Cys)| NM_001040113.1:c.4029G>A (p.Thr1343=)| NM_001040113.1:c.3984+6T>C| NC_000016.10:g.(?_15703971)_(15838272_?)del| NC_000016.10:g.(?_15708803)_(15838269_?)del| NC_000016.10:g.(?_15703135)_(15838269_?)dup| NC_000016.10:g.(?_15708803)_(15838269_?)dup| NM_001040113.1:c.4387-4G>A| NM_001040113.1:c.4131C>T (p.Asn1377=)| NM_001040113.1:c.4302G>A (p.Gln1434=)| NM_001040113.1:c.4683G>A (p.Glu1561=)| NM_001040113.1:c.3951G>A (p.Val1317=)| NM_001040113.1:c.4056G>A (p.Arg1352=)| NM_001040113.1:c.4933A>G (p.Lys1645Glu)| NM_001040113.1:c.4538A>G (p.Asn1513Ser)| NM_001040113.1:c.5417G>A (p.Ser1806Asn)| NM_001040113.1:c.5417G>C (p.Ser1806Thr)| NM_001040113.1:c.4505C>T (p.Ala1502Val)| NM_001040113.1:c.5186C>T (p.Ser1729Leu)| NM_001040113.1:c.5818C>G (p.Pro1940Ala)| NM_001040113.1:c.4055G>A (p.Arg1352Gln)| NC_000016.10:g.(?_15708805)_(15838258_?)dup| NM_001040113.1:c.-17G>C| NM_001040113.1:c.5392G>A (p.Glu1798Lys)| NM_001040113.1:c.4459G>C (p.Glu1487Gln)| NM_002474.2:c.3031T>C (p.Leu1011=)| NM_002474.2:c.1732A>G (p.Ile578Val)| NM_001040113.1:c.5357C>T (p.Thr1786Met)| NM_002474.2:c.1419G>A (p.Gln473=)| NM_002474.2:c.3310G>A (p.Ala1104Thr)| NM_002474.2:c.2961C>T (p.Ile987=)| MYH11:c.503-14_503-12del| NM_002474.2:c.2412-9C>A| NM_001040113.1:c.3743_3814del72 (p.Arg1248_Leu1271del)| NM_001040113.1:c.429G>A (p.Lys143=)| NM_002474.2:c.5529G>A (p.Ser1843=)| NM_002474.2:c.12G>A (p.Lys4=)| NM_002474.2:c.4506C>T (p.Leu1502=)| NM_001040113.1:c.3672+7_3672+11delCTTTT| NM_001040113.1:c.300C>T (p.Ser100=)| NM_001040113.1:c.2133G>A (p.Val711=)| NM_001040113.1:c.1365T>C (p.His455=)| NM_002474.2:c.418G>A (p.Asp140Asn)| NM_001040113.1:c.933C>T (p.Phe311=)| NM_001040113.1:c.3581C>T (p.Thr1194Met)| NM_002474.2:c.726+7A>G| NM_002474.2:c.633+1900G>A| NM_002474.2:c.1576-9C>T| NM_002474.2:c.3168G>A (p.Leu1056=)| NM_002474.2:c.3651+5delT| NM_002474.2:c.1749+4C>G| NM_002474.2:c.3619G>A (p.Glu1207Lys)| NM_002474.2:c.1318G>A (p.Val440Met)| NM_001040113.1:c.2562G>A (p.Val854=)| NM_001040113.1:c.1935G>A (p.Ser645=)| NM_002474.2:c.5213T>C (p.Ile1738Thr)| NM_002474.2:c.3340C>T (p.Arg1114Trp)| NM_002474.2:c.3125G>A (p.Arg1042Gln)| NM_002474.2:c.5516C>T (p.Ala1839Val)| NM_001040114.1:c.3787_3789delAAG (p.Lys1263del)| NM_001040113.1:c.2517G>C (p.Trp839Cys)| NM_002474.2:c.987C>T (p.Thr329=)| NM_002474.2:c.5275G>A (p.Val1759Ile)| NM_002474.2:c.3949C>A (p.Leu1317Ile)| NM_001040114.1:c.4694C>T (p.Thr1565Met)| NM_002474.2:c.387A>G (p.Lys129=)| NM_002474.2:c.291C>T (p.Asn97=)| NM_002474.2:c.135C>T (p.Phe45=)| NM_001040113.1:c.4422C>T (p.Tyr1474=)| NM_002474.2:c.4158C>T (p.Thr1386=)| NM_002474.2:c.2079C>T (p.Phe693=)| NM_001040113.1:c.4882A>C (p.Lys1628Gln)| NM_001040113.1:c.5635-8, C>T| NM_001040113.1:c.4727T>C (p.Met1576Thr)| NM_001040113.1:c.4695G>A (p.Thr1565=)| NM_001040113.1:c.3912C>T (p.Asn1304=)| NM_002474.2:c.5635G>A (p.Val1879Ile)| NM_001040113.1:c.5525+7G>T| NM_001040113.1:c.5014C>T (p.Arg1672Cys)| NM_001143979.1:c.948-10T>G| NM_002474.2:c.4659C>T (p.Asp1553=)| NM_002474.2:c.503-9T>C| NM_002474.2:c.4579-6C>T| NM_002474.2:c.3927C>T (p.Asp1309=)| NM_001040113.1:c.5753C>T (p.Thr1918Met)| NM_002474.2:c.4578+1G>A| NM_002474.2:c.4603C>T (p.Arg1535Trp)| NM_001143979.1:c.948-9103C>T| NM_002474.2:c.5742C>T (p.Asn1914=)| NM_002474.2:c.5652G>A (p.Arg1884=)| NM_002474.2:c.5596G>A (p.Glu1866Lys)| NM_001040113.1:c.5821C>A (p.Gln1941Lys)| NM_001040113.1:c.5819dupC (p.Gln1941Thrfs)| NM_002474.2:c.5269G>A (p.Asp1757Asn)| NM_002474.2:c.4994G>T (p.Arg1665Leu)| NM_002474.2:c.4735G>A (p.Asp1579Asn)| NM_002474.2:c.5313C>T (p.Asn1771=)| NM_002474.2:c.5566C>T (p.Leu1856=)| NM_001143979.1:c.948-6917G>A| NM_002474.2:c.3828G>A (p.Ala1276=)| NM_002474.2:c.3652-6C>T| NM_002474.2:c.792T>C (p.Tyr264=)| NM_001040113.1:c.3798G>A (p.Ala1266=)| NM_001040113.1:c.5717A>G (p.Asn1906Ser)| NM_001040113.1:c.2010G>A (p.Lys670=)| NM_002474.2:c.3669C>T (p.Asp1223=)| NM_002474.2:c.585G>A (p.Leu195=)| NM_002474.2:c.57C>T (p.Asn19=)| NM_002474.2:c.3531G>A (p.Thr1177=)| NM_002474.2:c.1056G>A (p.Ser352=)| NM_001040113.1:c.5192+9C>T| NM_001040113.1:c.4104C>T (p.Asn1368=)| NM_001040113.1:c.4812+5G>A| NM_002474.2:c.3562C>T (p.Arg1188Trp)| NM_002474.2:c.2075C>T (p.Ala692Val)| NM_002474.2:c.453G>A (p.Pro151=)| NM_002474.2:c.3611C>T (p.Ala1204Val)| NM_002474.2:c.3604G>A (p.Ala1202Thr)| NM_002474.2:c.1512C>T (p.Ile504=)| NM_002474.2:c.5517G>A (p.Ala1839=)| NM_001040113.1:c.5317-4C>T| NM_002474.2:c.4242T>G (p.Ala1414=)| NM_001040113.1:c.3988C>T (p.Leu1330=)| NM_002474.2:c.2520+17A>G| NM_001040113.1:c.5193-14C>T| NM_001040113.1:c.4625G>A (p.Arg1542Gln)| NM_001040113.1:c.5357C>A (p.Thr1786Lys)| NM_002474.2:c.4680C>T (p.Asp1560=)| NM_002474.2:c.4774A>C (p.Arg1592=)| NM_002474.2:c.4884C>T (p.Asp1628=)| NM_002474.2:c.4239C>T (p.Ala1413=)| NM_001040113.1:c.3123T>C (p.Ser1041=)| NM_002474.2:c.4240G>A (p.Ala1414Thr)| NM_002474.2:c.5787-4707C>G| NM_001040113.1:c.4137+11delC| NM_002474.2:c.1017C>T (p.Ser339=)| NM_002474.2:c.5504+8G>C| NM_001143979.1:c.948-7025C>T| NM_001143979.1:c.948-6986C>T| NM_002474.2:c.4791+4C>T| NM_002474.2:c.4095C>T (p.His1365=)| NM_001040113.1:c.4791G>A (p.Lys1597=)| NM_002474.2:c.3866T>C (p.Val1289Ala)| NM_002474.2:c.1502G>A (p.Arg501His)| NM_002474.2:c.914A>G (p.Asn305Ser)| NM_002474.2:c.769G>A (p.Val257Met)| NM_002474.2:c.3563G>A (p.Arg1188Gln)| NM_001040113.1:c.2914G>T (p.Ala972Ser)| NM_001040113.1:c.5819C>A (p.Pro1940Gln)| NM_002474.2:c.633+1942T>C| NM_002474.2:c.5160C>T (p.Ser1720=)| NM_001143979.1:c.948-5807C>G| NM_001040113.1:c.3918C>T (p.Ala1306=)| NM_001040113.1:c.4218G>A (p.Lys1406=)| NM_002474.2:c.5757C>T (p.Arg1919=)| NM_002474.2:c.5585G>A (p.Arg1862His)| NM_002474.2:c.3928G>A (p.Val1310Met)| NM_002474.2:c.5691C>T (p.Asn1897=)| NM_002474.2:c.3816G>A (p.Glu1272=)| NM_002474.2:c.4522A>G (p.Met1508Val)| NM_002474.2:c.4578+3A>G| NM_002474.2:c.5676G>C (p.Glu1892Asp)| NM_001040113.1:c.2026C>T (p.Arg676Cys)| NM_001040113.1:c.760C>T (p.Arg254Cys)" PMID: 23099432| PMID: 17666408| PMID: 16444274| PMID: 25907466| ClinVar: 496657| ClinVar: 375862| ClinVar: 465740| ClinVar: 375854| ClinVar: 14135| ClinVar: 14131| ClinVar: 440783| ClinVar: 88953| ClinVar: 201086| ClinVar: 318166| ClinVar: 201050| ClinVar: 201040| ClinVar: 201030| ClinVar: 263518| ClinVar: 218494| ClinVar: 196019| ClinVar: 318099| ClinVar: 263686| ClinVar: 252514| ClinVar: 201044| ClinVar: 522354| ClinVar: 522353| ClinVar: 465756| ClinVar: 465755| ClinVar: 465754| ClinVar: 465729| ClinVar: 465728| ClinVar: 465726| ClinVar: 465725| ClinVar: 465724| ClinVar: 465723| ClinVar: 465722| ClinVar: 465721| ClinVar: 465719| ClinVar: 465718| ClinVar: 465717| ClinVar: 465716| ClinVar: 465715| ClinVar: 465714| ClinVar: 465713| ClinVar: 465711| ClinVar: 465710| ClinVar: 465709| ClinVar: 465708| ClinVar: 465706| ClinVar: 465705| ClinVar: 465704| ClinVar: 413429| ClinVar: 413427| ClinVar: 413424| ClinVar: 413419| ClinVar: 413416| ClinVar: 413415| ClinVar: 413413| ClinVar: 413412| ClinVar: 405484| ClinVar: 405483| ClinVar: 405482| ClinVar: 405478| ClinVar: 405477| ClinVar: 405476| ClinVar: 405473| ClinVar: 405469| ClinVar: 405468| ClinVar: 405467| ClinVar: 405466| ClinVar: 405465| ClinVar: 405464| ClinVar: 405463| ClinVar: 405461| ClinVar: 405460| ClinVar: 318162| ClinVar: 263341| ClinVar: 238265| ClinVar: 238260| ClinVar: 238257| ClinVar: 238256| ClinVar: 238255| ClinVar: 221095| ClinVar: 220799| ClinVar: 218497| ClinVar: 218496| ClinVar: 218495| ClinVar: 211548| ClinVar: 211547| ClinVar: 201056| ClinVar: 201029| ClinVar: 138370| ClinVar: 318102| ClinVar: 318100| ClinVar: 263877| ClinVar: 201095| ClinVar: 161316| ClinVar: 522352| ClinVar: 465753| ClinVar: 465752| ClinVar: 465751| ClinVar: 465750| ClinVar: 465749| ClinVar: 465748| ClinVar: 465747| ClinVar: 465746| ClinVar: 465745| ClinVar: 465744| ClinVar: 465743| ClinVar: 465742| ClinVar: 465741| ClinVar: 465737| ClinVar: 465736| ClinVar: 465735| ClinVar: 465734| ClinVar: 465733| ClinVar: 465732| ClinVar: 465702| ClinVar: 417357| ClinVar: 417356| ClinVar: 417355| ClinVar: 413428| ClinVar: 413423| ClinVar: 413422| ClinVar: 413421| ClinVar: 413418| ClinVar: 413414| ClinVar: 405481| ClinVar: 405479| ClinVar: 405475| ClinVar: 405471| ClinVar: 405470| ClinVar: 405462| ClinVar: 374962| ClinVar: 374961| ClinVar: 267329| ClinVar: 252513| ClinVar: 238262| ClinVar: 220975| ClinVar: 201026| ClinVar: 201024| ClinVar: 155817| ClinVar: 138372| ClinVar: 138333| ClinVar: 138332| ClinVar: 36624| ClinVar: 36617| ClinVar: 14132| ClinVar: 238261| ClinVar: 197068| ClinVar: 138362| ClinVar: 138344| ClinVar: 465727| ClinVar: 465720| ClinVar: 465712| ClinVar: 465707| ClinVar: 426591| ClinVar: 413426| ClinVar: 405474| ClinVar: 392449| ClinVar: 383478| ClinVar: 382020| ClinVar: 378202| ClinVar: 264115| ClinVar: 263833| ClinVar: 263772| ClinVar: 263698| ClinVar: 238259| ClinVar: 238258| ClinVar: 203373| ClinVar: 201062| ClinVar: 201059| ClinVar: 197069| ClinVar: 180420| ClinVar: 180417| ClinVar: 138369| ClinVar: 201037| ClinVar: 201031| ClinVar: 180419| ClinVar: 138365| ClinVar: 138364| ClinVar: 138363| ClinVar: 138343| ClinVar: 138341| ClinVar: 138329| ClinVar: 36622| ClinVar: 496101| ClinVar: 465739| ClinVar: 465738| ClinVar: 465731| ClinVar: 418581| ClinVar: 413417| ClinVar: 405480| ClinVar: 392027| ClinVar: 386837| ClinVar: 381347| ClinVar: 378207| ClinVar: 378205| ClinVar: 374963| ClinVar: 372759| ClinVar: 372423| ClinVar: 318092| ClinVar: 264107| ClinVar: 264071| ClinVar: 263884| ClinVar: 238264| ClinVar: 238263| ClinVar: 201083| ClinVar: 201081| ClinVar: 201079| ClinVar: 201038| ClinVar: 138357| ClinVar: 138351| ClinVar: 138335| ClinVar: 36619| ClinVar: 138368| ClinVar: 465730| ClinVar: 413425| ClinVar: 413420| ClinVar: 382353| ClinVar: 381485| ClinVar: 379588| ClinVar: 378204| ClinVar: 263333| ClinVar: 257261| ClinVar: 257259| ClinVar: 228870| ClinVar: 201064| ClinVar: 201054| ClinVar: 201046| ClinVar: 201028| ClinVar: 201027| ClinVar: 138373| ClinVar: 138356| ClinVar: 138350| ClinVar: 138342| ClinVar: 138338| ClinVar: 138331| ClinVar: 36625| ClinVar: 180418| ClinVar: 405472| ClinVar: 386684| ClinVar: 264409| ClinVar: 263812| ClinVar: 263393| ClinVar: 257257| ClinVar: 201073| ClinVar: 201042| ClinVar: 201034| ClinVar: 199079| ClinVar: 138355| ClinVar: 138354| ClinVar: 138353| ClinVar: 138348| ClinVar: 138339| ClinVar: 36621| ClinVar: 138337| ClinVar: 201108| ClinVar: 201103| ClinVar: 201101| ClinVar: 201065| ClinVar: 201058| ClinVar: 201041| ClinVar: 138367| ClinVar: 138349| ClinVar: 318101| ClinVar: 257258| ClinVar: 221033| ClinVar: 138360| ClinVar: 201089| ClinVar: 201068| ClinVar: 138359| ClinVar: 36620| ClinVar: 138345| ClinVar: 138346| ClinVar: 138358| ClinVar: 161319| ClinVar: 161317 TAA and patent ductus arteriosus| familial TAA 4| case report| familial aneurysm conflicting interpretations of pathogenicity Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Thoracic aortic aneurysm MYLK 4638 "c.2693G>A, p.Arg898Gln| NM_053025.3:c.1955C>G (p.Pro652Arg)| NM_053025.3:c.2693G>A (p.Arg898Gln)| NM_053025.3:c.4438C>T (p.Arg1480Ter)| NM_053025.3:c.5275T>C (p.Ser1759Pro)| NM_053025.3:c.4292C>T (p.Pro1431Leu)| NM_053025.3:c.399G>T (p.Gln133His)| NM_053025.3:c.3637G>A (p.Val1213Met)| NM_053025.3:c.601C>T (p.Leu201=)| NM_053025.3:c.643A>G (p.Met215Val)| NM_053025.3:c.1213A>G (p.Met405Val)| NM_053025.3:c.2461C>T (p.Arg821Trp)| NM_053025.3:c.3610C>T (p.Arg1204Trp)| NM_053025.3:c.2776C>T (p.Arg926Cys)| NM_053025.3:c.1321C>T (p.Pro441Ser)| NM_053025.3:c.3915C>T (p.Cys1305=)| NM_053025.3:c.4415+9A>G| NM_053025.3:c.2799G>A (p.Val933=)| NM_053025.3:c.24C>G (p.Ala8=)| NM_053025.3:c.2023G>A (p.Gly675Arg)| NM_053025.3:c.2149G>T (p.Asp717Tyr)| NM_053025.3:c.4844C>T (p.Ala1615Val)| NM_053025.3:c.5441C>T (p.Thr1814Ile)| NM_053025.3:c.2120A>G (p.Gln707Arg)| NM_053026.3:c.3923C>T (p.Thr1308Met)| NM_053025.3:c.755-4C>G| NM_053025.3:c.717G>A (p.Ser239=)| NM_053025.3:c.608C>A (p.Pro203Gln)| NM_053025.3:c.4289-4_4289-3dup| NM_053025.3:c.4016G>T (p.Cys1339Phe)| NM_053025.3:c.3784A>G (p.Thr1262Ala)| NM_053025.3:c.3660G>A (p.Ala1220=)| NM_053025.3:c.3653-10_3653-8delTTT| NM_053025.3:c.3651_3652delGA (p.Ser1218Terfs)| NM_053025.3:c.3463G>A (p.Val1155Ile)| NM_053025.3:c.3351C>A (p.Leu1117=)| NM_053025.3:c.3265_3266delAA (p.Lys1089Glufs)| NM_053025.3:c.3203A>G (p.Lys1068Arg)| NM_053025.3:c.3120C>T (p.Asn1040=)| NM_053025.3:c.2740G>A (p.Asp914Asn)| NM_053025.3:c.2701C>G (p.Leu901Val)| NM_053025.3:c.2604C>T (p.Asp868=)| NM_053025.3:c.2463G>T (p.Arg821=)| NM_053025.3:c.2404G>A (p.Glu802Lys)| NM_053025.3:c.2260T>C (p.Trp754Arg)| NM_053025.3:c.2096A>G (p.Asn699Ser)| NM_053025.3:c.1807A>G (p.Lys603Glu)| NM_053025.3:c.1513G>A (p.Glu505Lys)| NM_053025.3:c.1334T>G (p.Val445Gly)| NM_053025.3:c.1255A>C (p.Lys419Gln)| NM_053025.3:c.1219G>A (p.Gly407Ser)| NM_053025.3:c.1182_1184delTGT (p.Val395del)| NM_053025.3:c.3449-11_3449-9delTTC| NM_053025.3:c.3397C>T (p.Leu1133=)| NM_053025.3:c.1167G>A (p.Leu389=)| NM_053025.3:c.4941C>T (p.Ile1647=)| NM_053025.3:c.2898C>T (p.Pro966=)| NM_053025.3:c.1356C>T (p.Thr452=)| NM_053025.3:c.2595C>T (p.Asp865=)| NM_053025.3:c.3336C>A (p.Gly1112=)| NM_053025.3:c.4335C>T (p.Pro1445=)| NM_053025.3:c.2439C>G (p.Asn813Lys)| NM_053025.3:c.3916G>A (p.Gly1306Ser)| NM_053025.3:c.3121G>A (p.Ala1041Thr)| NM_053025.3:c.143C>G (p.Ala48Gly)| NM_053025.3:c.4813G>A (p.Asp1605Asn)| NM_053025.3:c.463A>C (p.Ile155Leu)| NM_053025.3:c.1348_1356delGAAGGCACCinsTCT (p.Glu450_Thr452delinsSer)| NM_053025.3:c.4246A>G (p.Ser1416Gly)| NM_053025.3:c.3545C>T (p.Ser1182Phe)| NM_053025.3:c.617G>T (p.Arg206Leu)| NM_053025.3:c.4916G>C (p.Gly1639Ala)| NM_053025.3:c.2464G>A (p.Gly822Arg)| NM_053025.3:c.298G>A (p.Asp100Asn)| NM_053025.3:c.2983A>G (p.Asn995Asp)| NM_053025.3:c.4225G>A (p.Val1409Met)| NM_053025.3:c.4715G>A (p.Gly1572Glu)| NM_053025.3:c.1724C>T (p.Pro575Leu)| NM_053025.3:c.4207C>T (p.Arg1403Cys)| NM_053025.3:c.695C>T (p.Thr232Met)| NM_053025.3:c.463A>G (p.Ile155Val)| NM_053025.3:c.3137C>T (p.Thr1046Ile)| NM_053025.3:c.3899C>T (p.Ala1300Val)| NM_053025.3:c.179C>T (p.Pro60Leu)| NM_053025.3:c.1433G>A (p.Arg478Gln)| NM_053025.3:c.4489_4493delGCATA (p.Ala1497Phefs)| NM_053025.3:c.901C>T (p.Gln301Ter)| NM_053025.3:c.1396G>A (p.Asp466Asn)| NM_053025.3:c.2458C>T (p.Pro820Ser)| NM_053025.3:c.4397T>C (p.Ile1466Thr)| NM_053025.3:c.119G>A (p.Arg40Gln)| NM_053025.3:c.2253C>T (p.Thr751=)| NM_053025.3:c.5448C>T (p.Arg1816=)| NM_053025.3:c.4459C>T (p.Arg1487Ter)| NM_053025.3:c.4372C>T (p.Gln1458Ter)| NM_053025.3:c.4336G>A (p.Glu1446Lys)| NM_053025.3:c.3749G>A (p.Arg1250His)| NM_053025.3:c.611G>A (p.Ser204Asn)| NM_053025.3:c.524G>T (p.Gly175Val)| NM_053025.3:c.4838-7G>A| NM_053025.3:c.3127C>G (p.Pro1043Ala)| NM_053025.3:c.2140+6G>A| NM_053025.3:c.1400C>G (p.Ala467Gly)| NM_053025.3:c.1271A>T (p.Glu424Val)| NM_053025.3:c.1113G>A (p.Arg371=)| NM_053025.3:c.257G>A (p.Arg86Gln)| NM_053025.3:c.2919G>A (p.Pro973=)| NM_053025.3:c.2533C>T (p.Arg845Cys)| NM_053025.3:c.5535T>C (p.Asp1845=)| NM_053025.3:c.5489G>C (p.Cys1830Ser)| NM_053025.3:c.5377T>G (p.Ser1793Ala)| NM_053025.3:c.5287A>G (p.Met1763Val)| NM_053025.3:c.5214G>C (p.Lys1738Asn)| NM_053025.3:c.5132C>T (p.Thr1711Met)| NM_053025.3:c.5120G>A (p.Arg1707His)| NM_053025.3:c.5019T>C (p.Val1673=)| NM_053025.3:c.4681G>C (p.Glu1561Gln)| NM_053025.3:c.5166T>C (p.Asp1722=)| NM_053025.3:c.5374G>A (p.Val1792Met)| NM_053025.3:c.5119C>T (p.Arg1707Cys)| NM_053025.3:c.256C>T (p.Arg86Trp)| NM_053025.3:c.3898G>A (p.Ala1300Thr)| NM_053025.3:c.4620-6C>T| NM_053025.3:c.3525C>T (p.Asp1175=)| NM_053025.3:c.5477C>T (p.Ala1826Val)| NM_053025.3:c.3832-6C>T| NM_053025.3:c.1804+8C>T| NM_053025.3:c.1005C>T (p.Thr335=)| NM_053025.3:c.465C>A (p.Ile155=)| NM_053025.3:c.3184G>A (p.Ala1062Thr)| NM_053025.3:c.3096_3131del36 (p.Ala1044_Pro1055del)| NM_053025.3:c.2388C>T (p.Leu796=)| NM_053025.3:c.1786G>A (p.Ala596Thr)| NM_053025.3:c.1474G>A (p.Ala492Thr)| NM_053025.3:c.1028G>T (p.Ser343Ile)| NM_053025.3:c.711C>T (p.Asn237=)| NM_053025.3:c.4221C>A (p.Ile1407=)| NM_053025.3:c.4170C>T (p.Asn1390=)| NM_053025.3:c.2061G>A (p.Pro687=)| NM_053025.3:c.1212C>A (p.Pro404=)| NM_053025.3:c.1359C>T (p.Pro453=)| NM_053025.3:c.3462C>T (p.Ser1154=)| NM_053025.3:c.4289-9C>G| NM_053025.3:c.3824G>A (p.Arg1275Gln)| NM_053025.3:c.1745C>A (p.Thr582Asn)| NM_053025.3:c.4565T>C (p.Val1522Ala)| NM_053025.3:c.2009A>T (p.His670Leu)| NM_053025.3:c.1785C>T (p.Ser595=)| NM_053025.3:c.474G>T (p.Glu158Asp)| NM_053025.3:c.3750C>T (p.Arg1250=)| NM_053025.3:c.999G>A (p.Pro333=)| NM_053025.3:c.593A>G (p.Asn198Ser)| NM_053025.3:c.4929C>T (p.Asp1643=)| NM_053025.3:c.3659C>T (p.Ala1220Val)| NM_053025.3:c.1613G>A (p.Arg538Gln)| NM_053025.3:c.4194C>T (p.His1398=)| NM_053025.3:c.411C>G (p.Ser137=)| NM_053025.3:c.3253A>G (p.Thr1085Ala)| NM_053025.3:c.957G>A (p.Glu319=)| NM_053025.3:c.1968G>T (p.Trp656Cys)| NM_053025.3:c.4289-3dupC| NM_053025.3:c.3558C>T (p.Thr1186=)| NM_053025.3:c.5369-10T>G| NM_053025.3:c.1133G>A (p.Arg378His)| NM_053025.3:c.383C>T (p.Ala128Val)| NM_053025.3:c.1486C>G (p.Leu496Val)| NM_053025.3:c.1327C>T (p.Pro443Ser)| NM_053025.3:c.439C>T (p.Pro147Ser)| NM_053025.3:c.3402C>T (p.Asn1134=)| NM_053025.3:c.4014T>C (p.Pro1338=)| NM_053025.3:c.3639G>A (p.Val1213=)| NM_053025.3:c.2125G>A (p.Val709Met)| NM_053025.3:c.226G>A (p.Gly76Arg)| NM_053025.3:c.1132C>G (p.Arg378Gly)| NM_053025.3:c.3242A>G (p.His1081Arg)| NM_053025.3:c.382G>A (p.Ala128Thr)| NM_053025.3:c.4349G>A (p.Arg1450Gln)| NM_053025.3:c.4293G>A (p.Pro1431=)| NM_053025.3:c.4119A>G (p.Ser1373=)| NM_053025.3:c.993G>A (p.Thr331=)| NM_053025.3:c.771T>C (p.Asn257=)| NM_053025.3:c.4800G>A (p.Arg1600=)| NM_053025.3:c.3843C>T (p.Ser1281=)| NM_053025.3:c.3438C>T (p.Leu1146=)| NM_053025.3:c.5121C>T (p.Arg1707=)| NM_053025.3:c.1609G>A (p.Val537Ile)| NM_053025.3:c.1516A>G (p.Arg506Gly)| NM_053025.3:c.5114+8G>A| NM_053025.3:c.1007C>T (p.Pro336Leu)| NM_053025.3:c.984G>A (p.Ser328=)| NM_053025.3:c.652C>T (p.Leu218=)| NM_053025.3:c.479C>G (p.Pro160Arg)| NM_053025.3:c.3075C>T (p.Pro1025=)| NM_053025.3:c.3987T>G (p.Asp1329Glu)| NM_053025.3:c.2628C>T (p.Arg876=)| NM_053025.3:c.2101G>A (p.Ala701Thr)| NM_053025.3:c.1991A>G (p.Gln664Arg)| NM_053025.3:c.5079G>A (p.Lys1693=)| NM_053025.3:c.4289-4C>G| NM_053025.3:c.4764G>A (p.Pro1588=)| NM_053025.3:c.4195G>A (p.Glu1399Lys)| NM_053025.3:c.2474C>T (p.Pro825Leu)" PMID: 26854089| ClinVar: 496662| ClinVar: 471713| ClinVar: 30134| ClinVar: 30133| ClinVar: 225287| ClinVar: 263911| ClinVar: 403212| ClinVar: 342903| ClinVar: 342902| ClinVar: 342898| ClinVar: 342890| ClinVar: 342881| ClinVar: 241756| ClinVar: 488557| ClinVar: 342878| ClinVar: 342871| ClinVar: 264305| ClinVar: 263976| ClinVar: 241753| ClinVar: 216969| ClinVar: 180446| ClinVar: 342867| ClinVar: 194568| ClinVar: 487468| ClinVar: 471742| ClinVar: 471741| ClinVar: 471740| ClinVar: 471730| ClinVar: 471729| ClinVar: 471727| ClinVar: 471726| ClinVar: 471725| ClinVar: 471724| ClinVar: 471722| ClinVar: 471721| ClinVar: 471720| ClinVar: 471719| ClinVar: 471717| ClinVar: 471715| ClinVar: 471714| ClinVar: 471712| ClinVar: 471711| ClinVar: 471710| ClinVar: 471708| ClinVar: 471706| ClinVar: 471705| ClinVar: 471703| ClinVar: 471701| ClinVar: 471700| ClinVar: 471699| ClinVar: 471698| ClinVar: 415771| ClinVar: 415769| ClinVar: 415766| ClinVar: 415765| ClinVar: 415760| ClinVar: 415759| ClinVar: 415757| ClinVar: 415756| ClinVar: 415753| ClinVar: 409713| ClinVar: 409712| ClinVar: 409711| ClinVar: 409710| ClinVar: 409709| ClinVar: 409708| ClinVar: 409707| ClinVar: 409706| ClinVar: 409705| ClinVar: 409704| ClinVar: 409703| ClinVar: 409702| ClinVar: 409701| ClinVar: 409700| ClinVar: 409699| ClinVar: 409698| ClinVar: 409697| ClinVar: 409696| ClinVar: 409694| ClinVar: 409692| ClinVar: 409691| ClinVar: 409690| ClinVar: 409689| ClinVar: 409686| ClinVar: 409685| ClinVar: 409684| ClinVar: 409682| ClinVar: 409681| ClinVar: 409679| ClinVar: 374965| ClinVar: 342891| ClinVar: 342866| ClinVar: 268203| ClinVar: 268202| ClinVar: 263899| ClinVar: 252772| ClinVar: 241765| ClinVar: 241763| ClinVar: 241761| ClinVar: 241757| ClinVar: 241755| ClinVar: 241751| ClinVar: 241750| ClinVar: 241749| ClinVar: 264174| ClinVar: 220800| ClinVar: 226038| ClinVar: 471739| ClinVar: 471738| ClinVar: 471737| ClinVar: 471736| ClinVar: 471735| ClinVar: 471734| ClinVar: 471733| ClinVar: 471732| ClinVar: 427738| ClinVar: 415755| ClinVar: 409688| ClinVar: 409683| ClinVar: 342907| ClinVar: 342880| ClinVar: 227625| ClinVar: 226763| ClinVar: 252775| ClinVar: 227624| ClinVar: 226757| ClinVar: 226753| ClinVar: 471731| ClinVar: 471718| ClinVar: 471716| ClinVar: 471709| ClinVar: 471704| ClinVar: 471702| ClinVar: 471697| ClinVar: 415772| ClinVar: 415768| ClinVar: 415767| ClinVar: 415764| ClinVar: 415763| ClinVar: 415762| ClinVar: 415761| ClinVar: 415754| ClinVar: 409693| ClinVar: 409687| ClinVar: 409680| ClinVar: 393012| ClinVar: 389583| ClinVar: 383787| ClinVar: 264013| ClinVar: 262298| ClinVar: 241764| ClinVar: 241762| ClinVar: 241758| ClinVar: 241752| ClinVar: 226767| ClinVar: 226766| ClinVar: 226761| ClinVar: 221176| ClinVar: 342893| ClinVar: 226768| ClinVar: 226764| ClinVar: 415770| ClinVar: 264282| ClinVar: 241759| ClinVar: 226755| ClinVar: 226754| ClinVar: 198606| ClinVar: 194903| ClinVar: 471728| ClinVar: 471723| ClinVar: 471707| ClinVar: 439944| ClinVar: 390503| ClinVar: 264565| ClinVar: 264342| ClinVar: 264291| ClinVar: 263960| ClinVar: 263932| ClinVar: 263916| ClinVar: 262297| ClinVar: 262288| ClinVar: 241760| ClinVar: 220791| ClinVar: 415758| ClinVar: 409695| ClinVar: 389541| ClinVar: 262291| ClinVar: 193752| ClinVar: 193751| ClinVar: 262295| ClinVar: 262287| ClinVar: 226760| ClinVar: 262281| ClinVar: 262278| ClinVar: 241754| ClinVar: 228937| ClinVar: 226772| ClinVar: 226769| ClinVar: 196142| ClinVar: 262282| ClinVar: 264351 familial aneurysm conflicting interpretations of pathogenicity "Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis." human Thoracic aortic aneurysm MYLK-AS1 100506826 NM_053025.3:c.5275T>C (p.Ser1759Pro)| NM_053025.3:c.5441C>T (p.Thr1814Ile)| NM_053025.3:c.5448C>T (p.Arg1816=)| NM_053025.3:c.5535T>C (p.Asp1845=)| NM_053025.3:c.5489G>C (p.Cys1830Ser)| NM_053025.3:c.5377T>G (p.Ser1793Ala)| NM_053025.3:c.5287A>G (p.Met1763Val)| NM_053025.3:c.5214G>C (p.Lys1738Asn)| NM_053025.3:c.5132C>T (p.Thr1711Met)| NM_053025.3:c.5120G>A (p.Arg1707His)| NM_053025.3:c.5019T>C (p.Val1673=)| NM_053025.3:c.5166T>C (p.Asp1722=)| NM_053025.3:c.5374G>A (p.Val1792Met)| NM_053025.3:c.5119C>T (p.Arg1707Cys)| NM_053025.3:c.5477C>T (p.Ala1826Val)| NM_053025.3:c.5369-10T>G| NM_053025.3:c.5121C>T (p.Arg1707=)| NM_053025.3:c.5114+8G>A| NM_053025.3:c.5079G>A (p.Lys1693=) ClinVar: 30133| ClinVar: 342867| ClinVar: 342866| ClinVar: 471739| ClinVar: 471738| ClinVar: 471737| ClinVar: 471736| ClinVar: 471735| ClinVar: 471734| ClinVar: 471733| ClinVar: 471732| ClinVar: 415755| ClinVar: 409688| ClinVar: 409683| ClinVar: 252775| ClinVar: 415770| ClinVar: 415758| ClinVar: 262291| ClinVar: 226772 familial aneurysm conflicting interpretations of pathogenicity human Thoracic aortic aneurysm NDE1 54820 NM_001040113.1:c.5197G>A (p.Ala1733Thr)| NM_001040113.1:c.4769G>A (p.Arg1590Gln)| NM_001040113.1:c.4417A>C (p.Lys1473Gln)| NM_022844.2:c.[4578+1G>T;5273G>A]| NM_002474.2:c.5499G>C (p.Glu1833Asp)| NM_022844.2:c.5787-11_5787-8delCTCT| NM_001143979.1:c.948-5858G>A| NM_002474.2:c.3910A>C (p.Ile1304Leu)| NM_002474.2:c.5800A>T (p.Thr1934Ser)| NM_001040113.1:c.5822A>G (p.Gln1941Arg)| NM_001040113.1:c.5456_5461dupTCAAGT (p.Lys1820_Ser1821insPheLys)| NM_001040113.1:c.5073C>G (p.Ser1691Arg)| NM_001143979.1:c.948-4894G>A| NM_001143979.1:c.948-5828C>T| NM_002474.2:c.4681G>A (p.Ala1561Thr)| NM_001040113.1:c.5294G>A (p.Arg1765Gln)| NM_001040113.1:c.4386+10G>A| NM_001040113.1:c.5832G>A (p.Ser1944=)| NM_001040113.1:c.5808-9_5808-8delCT| NM_001040113.1:c.5525+7G>A| NM_001040113.1:c.5316+10G>A| NM_001040113.1:c.5305G>A (p.Ala1769Thr)| NM_001040113.1:c.5292C>A (p.Asp1764Glu)| NM_001040113.1:c.5236G>A (p.Ala1746Thr)| NM_001040113.1:c.5116G>A (p.Ala1706Thr)| NM_001040113.1:c.5113G>A (p.Ala1705Thr)| NM_001040113.1:c.4909G>C (p.Glu1637Gln)| NM_001040113.1:c.4869T>C (p.Ala1623=)| NM_001040113.1:c.4836G>A (p.Leu1612=)| NM_001040113.1:c.4812+9T>C| NM_001040113.1:c.4684C>T (p.Leu1562=)| NM_001040113.1:c.4682_4702dup (p.Asp1567_Ala1568insGluLeuGlnAlaThrGluAsp)| NM_001040113.1:c.4554C>T (p.Ala1518=)| NM_001040113.1:c.4036C>T (p.Arg1346Cys)| NM_001040113.1:c.4029G>A (p.Thr1343=)| NM_001040113.1:c.3984+6T>C| NC_000016.10:g.(?_15703971)_(15838272_?)del| NC_000016.10:g.(?_15708803)_(15838269_?)del| NC_000016.10:g.(?_15703135)_(15838269_?)dup| NC_000016.10:g.(?_15708803)_(15838269_?)dup| NM_001040113.1:c.4387-4G>A| NM_001040113.1:c.4131C>T (p.Asn1377=)| NM_001040113.1:c.4302G>A (p.Gln1434=)| NM_001040113.1:c.4683G>A (p.Glu1561=)| NM_001040113.1:c.3951G>A (p.Val1317=)| NM_001040113.1:c.4056G>A (p.Arg1352=)| NM_001040113.1:c.4933A>G (p.Lys1645Glu)| NM_001040113.1:c.4538A>G (p.Asn1513Ser)| NM_001040113.1:c.5417G>A (p.Ser1806Asn)| NM_001040113.1:c.5417G>C (p.Ser1806Thr)| NM_001040113.1:c.4505C>T (p.Ala1502Val)| NM_001040113.1:c.5186C>T (p.Ser1729Leu)| NM_001040113.1:c.5818C>G (p.Pro1940Ala)| NM_001040113.1:c.4055G>A (p.Arg1352Gln)| NC_000016.10:g.(?_15708805)_(15838258_?)dup| NM_001040113.1:c.5392G>A (p.Glu1798Lys)| NM_001040113.1:c.4459G>C (p.Glu1487Gln)| NM_001040113.1:c.5357C>T (p.Thr1786Met)| NM_002474.2:c.5529G>A (p.Ser1843=)| NM_002474.2:c.4506C>T (p.Leu1502=)| NM_002474.2:c.5213T>C (p.Ile1738Thr)| NM_002474.2:c.5516C>T (p.Ala1839Val)| NM_002474.2:c.5275G>A (p.Val1759Ile)| NM_002474.2:c.3949C>A (p.Leu1317Ile)| NM_001040114.1:c.4694C>T (p.Thr1565Met)| NM_001040113.1:c.4422C>T (p.Tyr1474=)| NM_002474.2:c.4158C>T (p.Thr1386=)| NM_001040113.1:c.4882A>C (p.Lys1628Gln)| NM_001040113.1:c.5635-8C>T| NM_001040113.1:c.4727T>C (p.Met1576Thr)| NM_001040113.1:c.4695G>A (p.Thr1565=)| NM_001040113.1:c.3912C>T (p.Asn1304=)| NM_002474.2:c.5635G>A (p.Val1879Ile)| NM_001040113.1:c.5525+7G>T| NM_001040113.1:c.5014C>T (p.Arg1672Cys)| NM_001143979.1:c.948-10T>G| NM_002474.2:c.4659C>T (p.Asp1553=)| NM_002474.2:c.4579-6C>T| NM_002474.2:c.3927C>T (p.Asp1309=)| NM_001040113.1:c.5753C>T (p.Thr1918Met)| NM_002474.2:c.4578+1G>A| NM_002474.2:c.4603C>T (p.Arg1535Trp)| NM_001143979.1:c.948-9103C>T| NM_002474.2:c.5742C>T (p.Asn1914=)| NM_002474.2:c.5652G>A (p.Arg1884=)| NM_002474.2:c.5596G>A (p.Glu1866Lys)| NM_001040113.1:c.5821C>A (p.Gln1941Lys)| NM_001040113.1:c.5819dupC (p.Gln1941Thrfs)| NM_002474.2:c.5269G>A (p.Asp1757Asn)| NM_002474.2:c.4994G>T (p.Arg1665Leu)| NM_002474.2:c.4735G>A (p.Asp1579Asn)| NM_002474.2:c.5313C>T (p.Asn1771=)| NM_002474.2:c.5566C>T (p.Leu1856=)| NM_001143979.1:c.948-6917G>A| NM_001040113.1:c.5717A>G (p.Asn1906Ser)| NM_001040113.1:c.5192+9C>T| NM_001040113.1:c.4104C>T (p.Asn1368=)| NM_001040113.1:c.4812+5G>A| NM_002474.2:c.5517G>A (p.Ala1839=)| NM_001040113.1:c.5317-4C>T| NM_002474.2:c.4242T>G (p.Ala1414=)| NM_001040113.1:c.3988C>T (p.Leu1330=)| NM_001040113.1:c.5193-14C>T| NM_001040113.1:c.4625G>A (p.Arg1542Gln)| NM_001040113.1:c.5357C>A (p.Thr1786Lys)| NM_002474.2:c.4680C>T (p.Asp1560=)| NM_002474.2:c.4774A>C (p.Arg1592=)| NM_002474.2:c.4884C>T (p.Asp1628=)| NM_002474.2:c.4239C>T (p.Ala1413=)| NM_002474.2:c.4240G>A (p.Ala1414Thr)| NM_002474.2:c.5787-4707C>G| NM_001040113.1:c.4137+11delC| NM_002474.2:c.5504+8G>C| NM_001143979.1:c.948-7025C>T| NM_001143979.1:c.948-6986C>T| NM_002474.2:c.4791+4C>T| NM_002474.2:c.4095C>T (p.His1365=)| NM_001040113.1:c.4791G>A (p.Lys1597=)| NM_002474.2:c.3866T>C (p.Val1289Ala)| NM_001040113.1:c.5819C>A (p.Pro1940Gln)| NM_002474.2:c.5160C>T (p.Ser1720=)| NM_001143979.1:c.948-5807C>G| NM_001040113.1:c.3918C>T (p.Ala1306=)| NM_001040113.1:c.4218G>A (p.Lys1406=)| NM_002474.2:c.5757C>T (p.Arg1919=)| NM_002474.2:c.5585G>A (p.Arg1862His)| NM_002474.2:c.3928G>A (p.Val1310Met)| NM_002474.2:c.5691C>T (p.Asn1897=)| NM_002474.2:c.4522A>G (p.Met1508Val)| NM_002474.2:c.4578+3A>G| NM_002474.2:c.5676G>C (p.Glu1892Asp) ClinVar: 375862| ClinVar: 465740| ClinVar: 375854| ClinVar: 14131| ClinVar: 201086| ClinVar: 201040| ClinVar: 318099| ClinVar: 263686| ClinVar: 201044| ClinVar: 218497| ClinVar: 218496| ClinVar: 218495| ClinVar: 318102| ClinVar: 318100| ClinVar: 263877| ClinVar: 161316| ClinVar: 522352| ClinVar: 465753| ClinVar: 465752| ClinVar: 465751| ClinVar: 465750| ClinVar: 465749| ClinVar: 465748| ClinVar: 465747| ClinVar: 465746| ClinVar: 465745| ClinVar: 465744| ClinVar: 465743| ClinVar: 465742| ClinVar: 465741| ClinVar: 465737| ClinVar: 465736| ClinVar: 465735| ClinVar: 465734| ClinVar: 465733| ClinVar: 465732| ClinVar: 465702| ClinVar: 417357| ClinVar: 417356| ClinVar: 417355| ClinVar: 413428| ClinVar: 413423| ClinVar: 413422| ClinVar: 413421| ClinVar: 413418| ClinVar: 413414| ClinVar: 405481| ClinVar: 405479| ClinVar: 405475| ClinVar: 405471| ClinVar: 405470| ClinVar: 405462| ClinVar: 374962| ClinVar: 374961| ClinVar: 267329| ClinVar: 238262| ClinVar: 220975| ClinVar: 155817| ClinVar: 197068| ClinVar: 138344| ClinVar: 203373| ClinVar: 197069| ClinVar: 201037| ClinVar: 201031| ClinVar: 180419| ClinVar: 138343| ClinVar: 138341| ClinVar: 36622| ClinVar: 496101| ClinVar: 465739| ClinVar: 465738| ClinVar: 465731| ClinVar: 418581| ClinVar: 413417| ClinVar: 405480| ClinVar: 392027| ClinVar: 386837| ClinVar: 378207| ClinVar: 378205| ClinVar: 374963| ClinVar: 372759| ClinVar: 372423| ClinVar: 318092| ClinVar: 264107| ClinVar: 264071| ClinVar: 263884| ClinVar: 238264| ClinVar: 238263| ClinVar: 201083| ClinVar: 201081| ClinVar: 201079| ClinVar: 201038| ClinVar: 138357| ClinVar: 138351| ClinVar: 413425| ClinVar: 257261| ClinVar: 257259| ClinVar: 228870| ClinVar: 138356| ClinVar: 138350| ClinVar: 138342| ClinVar: 138338| ClinVar: 36625| ClinVar: 180418| ClinVar: 405472| ClinVar: 386684| ClinVar: 264409| ClinVar: 263812| ClinVar: 263393| ClinVar: 201073| ClinVar: 201042| ClinVar: 201034| ClinVar: 138355| ClinVar: 138354| ClinVar: 138353| ClinVar: 138348| ClinVar: 138339| ClinVar: 36621| ClinVar: 138337| ClinVar: 201041| ClinVar: 138349| ClinVar: 318101| ClinVar: 257258| ClinVar: 221033| ClinVar: 138360| ClinVar: 201089| ClinVar: 201068| ClinVar: 138359| ClinVar: 138345| ClinVar: 138346| ClinVar: 138358 familial aneurysm conflicting interpretations of pathogenicity "Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Note=Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis." human Thoracic aortic aneurysm NOTCH1 4851 "c.865 + 2C>A| c.5950C>T, p.Arg1984*| c.4240delT, p.Cys1414Ala fs*31| c.1650C>G, p.Tyr550*| c.1670-7G>A, p.Gly557fs " PMID: 26820064 Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.. human Thoracic aortic aneurysm PRKG1 5592 NM_001098512.2:c.530G>A (p.Arg177Gln)| NM_006258.3:c.820T>C (p.Phe274Leu)| NM_006258.3:c.478+10G>T| NM_006258.3:c.319G>C (p.Asp107His)| NM_006258.3:c.2014G>A (p.Asp672Asn)| NM_006258.3:c.1929A>G (p.Arg643=)| NM_006258.3:c.1845A>G (p.Ser615=)| NM_006258.3:c.1576T>C (p.Phe526Leu)| NC_000010.11:g.(?_52161869)_(52161983_?)del| NM_006258.3:c.585C>T (p.Thr195=)| NM_006258.3:c.1228C>T (p.Arg410Cys)| NM_006258.3:c.1598T>C (p.Phe533Ser)| NM_006258.3:c.1466A>G (p.Tyr489Cys)| NM_006258.3:c.39G>A (p.Glu13=)| NM_006258.3:c.1409C>T (p.Ser470Leu)| NM_006258.3:c.893C>T (p.Thr298Ile)| NM_006258.3:c.675C>T (p.Thr225=)| NM_006258.3:c.421A>C (p.Lys141Gln)| NM_006258.3:c.1092G>A (p.Ala364=)| NM_006258.3:c.1002-9G>A| NM_006258.3:c.1017G>A (p.Leu339=)| NM_006258.3:c.479-9C>T| NM_006258.3:c.1174-9T>G| NM_001098512.2:c.1997G>C (p.Gly666Ala)| NM_006258.3:c.395A>G (p.Asp132Gly)| NM_006258.3:c.30G>A (p.Ala10=)| NM_006258.3:c.1525C>T (p.His509Tyr)| NM_006258.3:c.906A>C (p.Gly302=)| NM_006258.3:c.888T>C (p.Leu296=)| NM_006258.3:c.1008T>C (p.Phe336=)| NM_006258.3:c.1080T>C (p.Tyr360=)| NM_006258.3:c.1071A>G (p.Lys357=)| NM_001098512.2:c.1421A>T (p.Tyr474Phe)| NM_006258.3:c.845A>G (p.Asn282Ser)| NM_006258.3:c.426C>T (p.Asp142=)| NM_006258.3:c.408G>A (p.Pro136=) ClinVar: 65477| ClinVar: 477781| ClinVar: 477779| ClinVar: 477777| ClinVar: 477776| ClinVar: 477775| ClinVar: 477774| ClinVar: 477773| ClinVar: 477771| ClinVar: 414272| ClinVar: 407091| ClinVar: 407090| ClinVar: 407089| ClinVar: 240641| ClinVar: 77987| ClinVar: 477782| ClinVar: 477780| ClinVar: 477778| ClinVar: 477772| ClinVar: 414275| ClinVar: 414274| ClinVar: 381780| ClinVar: 240640| ClinVar: 210009| ClinVar: 451745| ClinVar: 414276| ClinVar: 414273| ClinVar: 390723| ClinVar: 263893| ClinVar: 263888| ClinVar: 240639| ClinVar: 240638| ClinVar: 210010| ClinVar: 381196| ClinVar: 240642| ClinVar: 220801 familial aneurysm conflicting interpretations of pathogenicity Cytoplasm. Note=Colocalized with TRPC7 in the plasma membrane.. human Thoracic aortic aneurysm SLC2A10 81031 NM_030777.3:c.1370C>T (p.Ala457Val) ClinVar: 213737 familial aneurysm uncertain significance "Endomembrane system ; Multi-pass membrane protein. Cytoplasm, perinuclear region." human Thoracic aortic aneurysm SMAD2 4087 aneurysm wall: increase in RNA level PMID: 23295196 "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081).." human Thoracic aortic aneurysm SMAD3 4088 "NM_005902.3:c.335C-T, NP_005893.1:p.R420H| c.803G>A, p.Arg268His| c.985A>G" PMID: 25907466| PMID: 26854089| PMID: 23585475 case report "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Thoracic aortic aneurysm SMARCA4 6597 aortic media: increase in protein level| increase in RNA level PMID: 24875884 Nucleus. Note=Colocalizes with long non-coding RNA Evf2 in nuclear RNA clouds.. human Thoracic aortic aneurysm SPP1 6696 aortic wall: increase in protein level| increase in RNA level PMID: 23508392 ascending thoracic aortic aneurysms Secreted. human Thoracic aortic aneurysm SRFBP1 153443 NM_002317.6:c.800A>C (p.Gln267Pro)| NM_002317.6:c.839G>T (p.Ser280Ile)| NM_002317.6:c.893T>G (p.Met298Arg) ClinVar: 267293| ClinVar: 267291| ClinVar: 228806 familial aneurysm pathogenic| likely pathogenic "Cytoplasm, perinuclear region." human Thoracic aortic aneurysm STAT1 6772 "c.820C>T, p.Arg274Trp" PMID: 26080282 case report "Cytoplasm. Nucleus. Note=Translocated into the nucleus upon tyrosine phosphorylation and dimerization, in response to IFN-gamma and signaling by activated FGFR1, FGFR2, FGFR3 or FGFR4 (PubMed:15322115). Monomethylation at Lys-525 is required for phosphorylation at Tyr-701 and translocation into the nucleus (PubMed:28753426). Translocates into the nucleus in response to interferon-beta stimulation (PubMed:26479788).." human Thoracic aortic aneurysm TGFB2 7042 "c.979C>T, p.Arg327Trp| rs900| c.1165dupA, p.Ser389Lysfs*8| LOF 1q41" PMID: 26854089| PMID: 24707114| PMID: 24193348| PMID: 22772368 sporadic aneurysm| case report Secreted. human Thoracic aortic aneurysm TGFBR1 7046 "NM_004612.2:c.944A-G, NP_004603.1:p.H315R| rs113605875, NM_004612.2:c.1460G-A, NP_004603.1:p.R487Q| NM_003242.5:c.1280C-T, NP_004603.1:p.E218K| NM_003242.5:c.1063G-C, NP_004603.1:p.L486S" PMID: 19542084| PMID: 16791849| PMID: 18781618 "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Thoracic aortic aneurysm TGFBR2 7048 "rs138262219, NM_001024847.2:c.166C-A, NP_001020018.1:p.H56N| NM_003242.5:c.1657T-A, NP_003233.4:p.H360P| rs104893816, NM_012452.2:c.226G-T, NP_003233.4:p.R460H| rs104893811, NM_003242.5:c.1378C-T, NP_003233.4:p.R460C| NM_003242.5:c.1069G-T, NP_003233.4:p.E485K| NM_003242.5:c.1159G-A, NP_003233.4:p.A414T| rs35766612, NM_003255.4:c.303G-A, NP_003233.4:p.V387M| NM_001024847.2:c.136A-C, NP_003233.4:p.Y470S| rs112215250, NM_001024847.2:c.166C-A, NP_003233.4:p.S553T| NM_003255.4:c.303G-A, NP_003233.4:p.C394Y| EX 1a 75bp mutation| NM_003242.5:c.412T>G (p.Cys138Gly)" PMID: 17418587| PMID: 16027248| PMID: 19336958| PMID: 23099432| PMID: 16791849| ClinVar: 213915 case report| familial aneurysm uncertain significance Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Thoracic aortic aneurysm THBS2 7058 3949T>G PMID: 18600213 in hypertensive patients human Thoracic aortic aneurysm TIMP1 7076 aorta: decrease in protein level PMID: 25339161 Secreted. human Thoracic aortic aneurysm TIMP2 7077 aorta: decrease in protein level PMID: 25339161 Secreted. human Thoracic aortic aneurysm TNF 7124 -850C>T PMID: 18600213 in hypertensive patients protective "Cell membrane ; Single-pass type II membrane protein. Tumor necrosis factor, membrane form: Membrane; Single-pass type II membrane protein. Tumor necrosis factor, soluble form: Secreted. C-domain 1: Secreted. C-domain 2: Secreted." human Thoracic aortic aneurysm and dissection ACAT2 39 "c.825A>T, p.N117I| c.977 T>A, p.Y168N| c.1518 T>G, p.L348R| p.R185Q| p.R118Q| p.Arg149Cys| p.M49V| p.G304R| p.R39C| p.Asp82Glu| p.Glu243Lys| p.Val45Leu" PMID: 27431987| PMID: 25759435| PMID: 24020716| PMID: 21248741| PMID: 21212136 in Chinese population| familial aneurysm| case report protective Cytoplasm. human Thoracic aortic aneurysm and dissection ACE 1636 plasma: decrease in RNA level PMID: 25237166 "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Thoracic aortic aneurysm and dissection ACE2 59272 plasma: decrease in RNA level PMID: 25237166 Processed angiotensin-converting enzyme 2: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.. human Thoracic aortic aneurysm and dissection ACTA2 59 "NM_001613.2:c.1019_1020delCT| rs397516680, NM_001613.2:c.338A-C, NP_001604.1:p.N113T| NM_001613.2:c.145A-G, NP_001604.1:p.N117T| NM_001613.2:c.445C-T, NP_001604.1:p.K328N| NM_001613.2:c.772C-T, NP_001604.1:p.T353N| NM_001613.2:c.419C-T, NP_001604.1:p.R292G| rs397515325, NM_001613.2:c.607G-A, NP_001604.1:p.M49V| NM_000020.2:c.652C-T, NP_001604.1:p.Q61R| NM_000089.3:c.1645G-C, NP_001604.1:p.H42N| NM_000090.3:c.2002C-A, NP_001604.1:p.P40S| NM_000090.3:c.505C-T, NP_001604.1:p.P72Q| NM_000090.3:c.2092G-A, NP_001604.1:p.R314*| rs121434526, NM_000090.3:c.3133G-A, NP_001604.1:p.R149C| rs121434528, NM_000090.3:c.3776C-T, NP_001604.1:p.R258C| NM_000090.3:c.2356G-A, NP_001604.1:p.R118Q| rs112901682, NM_000090.3:c.907G-A, NP_001604.1:p.R39C| NM_001845.5:c.1528G-A, NP_001604.1:p.D82E| NM_001845.5:c.1493G-T, NP_001604.1:p.D26Y| NM_001845.5:c.1555G-A, NP_001604.1:p.E243K| rs397516683, NM_001845.5:c.1583G-A, NP_001604.1:p.A140V| NM_000118.3:c.1096G-C, NP_001604.1:p.G38R| NM_000138.4:c.8218A-G, NP_001604.1:p.G304R| NM_000138.4:c.7765A-G, NP_001604.1:p.G275A| NM_000138.4:c.6806T-C, NP_001604.1:p.G160D| NM_000138.4:c.7412C-G, NP_001604.1:p.V154A| NM_000138.4:c.6987C-G, NP_001604.1:p.V45L| rs397516684, NM_000138.4:c.3571G-A, NP_001604.1:p.V203I| NM_000138.4:c.79G-A, NP_001604.1:p.Y135H| NM_000138.4:c.3379G-A, NP_001604.1:p.Y145C| NM_000138.4:c.7115G-T, NP_001604.1:p.S302A| rs111799340| p.G152_T205del (c.616+1G>T)| p.R212Q| c.76G> T, p.Asp26Tyr| c.118C>T, p.Pro40Ser| EX6 c.536G>A p.R179H| NM_001141945.2:c.146T>A (p.Met49Lys)| NM_001141945.2:c.142G>T (p.Gly48Ter)| NM_001613.2:c.-115A>G| NM_001613.2:c.-56C>T| NM_001613.2:c.13G>C (p.Glu5Gln)| NM_001613.2:c.369+7A>G| NM_001141945.2:c.*158G>A| NM_001613.2:c.*28A>T| NM_001613.2:c.*43A>G| NM_001613.2:c.*105G>T| NM_001613.2:c.*122T>C| NM_001141945.1:c.419C>T (p.Ala140Val)| NM_001613.2:c.420G>A (p.Ala140=)| NM_001613.2:c.201G>C (p.Leu67=)| NG_009089.2:g.5337C>A| NG_009089.2:g.5252G>A| NG_009089.2:g.5173G>A| NG_009089.2:g.5052G>A| NG_009089.2:g.5010G>A| NM_001141945.2:c.-24+409G>A| NM_001141945.2:c.-24+414_-24+415delGG| NM_001613.2:c.808+14G>A| NM_001613.2:c.390T>C (p.Asn130=)| NG_009089.2:g.5313A>G| NM_001613.3:c.445C>T (p.Arg149Cys)| NM_001613.2:c.115C>T (p.Arg39Cys)| NM_001613.2:c.78C>T (p.Asp26=)| NM_001613.2:c.720G>C (p.Lys240Asn)| NM_001613.2:c.635G>A (p.Arg212Gln)| NM_001613.2:c.353G>A (p.Arg118Gln)| NM_001613.2:c.417G>A (p.Gln139=)| NM_001613.2:c.536G>A (p.Arg179His)" PMID: 21937134| PMID: 24793577| PMID: 17994018| PMID: 25225139| PMID: 21248741| PMID: 25907466| PMID: 19409525| PMID: 21212136| PMID: 20689142| PMID: 24243736| PMID: 19639654| PMID: 22946110| ClinVar: 222480| ClinVar: 222479| ClinVar: 301513| ClinVar: 301512| ClinVar: 301511| ClinVar: 301510| ClinVar: 368929| ClinVar: 301506| ClinVar: 301505| ClinVar: 301504| ClinVar: 301503| ClinVar: 44217| ClinVar: 264091| ClinVar: 136278| ClinVar: 301521| ClinVar: 301519| ClinVar: 301518| ClinVar: 301517| ClinVar: 301516| ClinVar: 301515| ClinVar: 301514| ClinVar: 301507| ClinVar: 301509| ClinVar: 301520| ClinVar: 18276| ClinVar: 65449| ClinVar: 263386| ClinVar: 162701| ClinVar: 44219| ClinVar: 199670| ClinVar: 301508| ClinVar: 29598 case report; familial aneurysm conflicting interpretations of pathogenicity "Cytoplasm, cytoskeleton." human Thoracic aortic aneurysm and dissection ACTA2-AS1 100132116 NM_001141945.2:c.*158G>A| NM_001613.2:c.*28A>T| NM_001613.2:c.*43A>G| NM_001613.2:c.*105G>T| NM_001613.2:c.*122T>C| NM_001613.2:c.808+14G>A| NM_001613.2:c.720G>C (p.Lys240Asn)| NM_001613.2:c.635G>A (p.Arg212Gln) ClinVar: 368929| ClinVar: 301506| ClinVar: 301505| ClinVar: 301504| ClinVar: 301503| ClinVar: 301507| ClinVar: 162701| ClinVar: 44219 conflicting interpretations of pathogenicity human Thoracic aortic aneurysm and dissection ADAMTS1 9510 aortic tissue: increase in RNA level PMID: 27156333 "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection ADAMTS16 170690 aortic tissue: increase in RNA level PMID: 27156333 "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection ADAMTS5 11096 aortic tissue: increase in RNA level PMID: 27156333 "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection BGN 633 "c.5G>A, p.Trp2*| c.908A>C, p.Gln303Pro| 21kb del chrX:152767424-152787984 | 28kb del chrX:152768438-152795976| c.238G>A, p.Gly80Ser| NC_000023.10:g.152768438_152795976del27539| NM_001711.5:c.238G>A (p.Gly80Ser)| NC_000023.10:g.152767424_152787984del20561| NM_001711.5:c.908A>C (p.Gln303Pro)| NM_001711.5:c.5G>A (p.Trp2Ter)" PMID: 27632686| ClinVar: 265797| ClinVar: 265798| ClinVar: 265796| ClinVar: 265795| ClinVar: 265794 pathogenic "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection COL1A1 1277 NM_000088.3:c.2932C>T (p.Pro978Ser)| NM_000088.3:c.1042G>A (p.Ala348Thr) ClinVar: 35918| ClinVar: 35897 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection COL3A1 1281 "NM_002318.2:c.939G-A, NP_000081.1:p.R878H| NM_002474.2:c.5273G-A, NP_000081.1:p.G240A| c.719G>C, p.Gly240Ala| NM_000090.3:c.1178G>A (p.Gly393Asp)| NM_000090.3:c.536delC (p.Pro179Glnfs)| NM_000090.3:c.4059T>G| NM_000090.3:c.798_799delAG| NM_000090.3:c.2242_2244delGGTinsAGC (p.Gly748Ser)| NM_000090.3:c.911C>A (p.Ala304Asp)| NM_000090.3:c.1204G>A (p.Gly402Ser)| NM_000090.3:c.3525+19delG| NM_000090.3:c.3202-14delT| NM_000090.3:c.1348-4delT| NM_000090.3:c.1744G>A (p.Gly582Ser)" PMID: 23142374| PMID: 25907466| ClinVar: 517129| ClinVar: 517127| ClinVar: 263846| ClinVar: 199748| ClinVar: 199700| ClinVar: 180295| ClinVar: 424523| ClinVar: 199705| ClinVar: 199703| ClinVar: 199694| ClinVar: 17225 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection COL5A1 1289 NM_000093.4:c.2504G>C (p.Gly835Ala)| NM_000093.4:c.4126T>C (p.Ser1376Pro)| NM_000093.4:c.4928A>G (p.Gln1643Arg)| NM_000093.4:c.514G>T (p.Val172Phe)| NM_000093.4:c.5350G>A (p.Ala1784Thr)| NM_000093.4:c.4230+5C>T ClinVar: 517134| ClinVar: 222524| ClinVar: 180299| ClinVar: 180298| ClinVar: 180300| ClinVar: 136892 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection COL5A2 1290 NM_000393.4:c.808G>A (p.Gly270Ser)| NM_000393.4:c.3275G>A (p.Gly1092Asp)| NM_000393.4:c.989G>A (p.Gly330Asp)| NM_000393.4:c.1693G>C (p.Glu565Gln)| NM_000393.4:c.271G>C (p.Glu91Gln)| NM_000393.4:c.2011C>T (p.Pro671Ser)| NM_000393.4:c.3471+8A>T ClinVar: 517132| ClinVar: 517119| ClinVar: 222529| ClinVar: 180302| ClinVar: 180301| ClinVar: 180303| ClinVar: 155778 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection EFEMP2 30008 "c.376G>A, p.Glu126Lys" PMID: 25907466 Secreted. human Thoracic aortic aneurysm and dissection FAS 355 NG_009089.2:g.5337C>A| NG_009089.2:g.5252G>A| NG_009089.2:g.5173G>A| NG_009089.2:g.5052G>A| NG_009089.2:g.5010G>A| NM_001141945.2:c.-24+409G>A| NM_001141945.2:c.-24+414_-24+415delGG| NG_009089.2:g.5313A>G ClinVar: 301521| ClinVar: 301519| ClinVar: 301518| ClinVar: 301517| ClinVar: 301516| ClinVar: 301515| ClinVar: 301514| ClinVar: 301520 uncertain significance| benign/likely benign Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. Isoform 4: Secreted. Isoform 5: Secreted. Isoform 6: Secreted. human Thoracic aortic aneurysm and dissection FBN1 2200 "NM_000138.4:c.5249_5258delGTCAAAGGCC| NM_000138.4:c.4160dupA| rs397515860, NM_003036.3:c.101G-A, NP_000129.3:p.N2740D| rs111413134, NM_003036.3:c.100G-T, NP_000129.3:p.R2589G| rs12324002, NM_005902.3:c.782C-T, NP_000129.3:p.I329T| rs193922228, NM_005902.3:c.836G-A, NP_000129.3:p.I2269T| NM_005902.3:c.788C-T, NP_000129.3:p.H219Q| rs363835, NM_005902.3:c.715G-A, NP_000129.3:p.P2278S| NM_003238.3:c.1013C-A, NP_000129.3:p.R2306C| NM_003238.3:c.272G-A, NP_000129.3:p.R233H| rs363831, NM_004612.2:c.1433A-G, NP_000129.3:p.D2329E| rs370121450, NM_004612.2:c.599C-T, NP_000129.3:p.D1191N| rs25397, NM_004612.2:c.953T-G, NP_000129.3:p.A27T| NM_004612.2:c.1460G-A, NP_000129.3:p.G70V| NM_004612.2:c.1460G-C, NP_000129.3:p.G2416E| rs112196241, NM_003242.5:c.1378C-T, NP_000129.3:p.Y2661C| NM_003242.5:c.1583G-A, NP_000129.3:p.S1843F| rs397515844, NM_003242.5:c.1582C-T, NP_000129.3:p.S2361L| NM_003242.5:c.985G-A, NP_000129.3:p.S346P| NM_003242.5:c.1159G-A, NP_000129.3:p.C2274S| rs397515771, NM_003242.5:c.1006T-A, NP_000129.3:p.C816W| NM_003255.4:c.303G-A, NP_000129.3:p.C1971*| NM_012452.2:c.226G-T, NP_000129.3:p.F1912C| rs2118181| rs755251| rs1036477| rs10519177| rs4774517| c.1560-1566delGAGCACA| c.7656C>A, p.Cys2552Ter| c.7039_7040delAT, p.Met2347Valfs*19| c.813C>G, p.Cys271Trp| c.6866G>T, p.Cys2289Phe| c.4467T>A, p.Asn1489Lys| p.Tyr1266Phe, p.Asp2707Glu| c.3428G>A, p.Gly1143Asp| c.6596G>A, p. Gly2199Asp| c.185G>A, p.Arg59His| c.3887G>T, p.Cys1296Phe| c.G7717G>C, p.Gly2573Arg| c.8147dupA, p.Tyr2716| c.1468+5G>A| c.3013G>T, p.Glu1005| c.4872delCinsGAT, p.Asn1624Lysfs16| c.7699+5C>A| rs2118181 | c.5084G>A, p.C1695Y| c.5917+6T>C| NM_000138.4:c.626G>A (p.Cys209Tyr)| NM_000138.4:c.7788C>A (p.Tyr2596Ter)| NM_000138.4:c.2168-1G>T| NM_000138.4:c.8504dup (p.Leu2836Thrfs)| NM_000138.4:c.7956T>A (p.Cys2652Ter)| NM_000138.4:c.1422T>G (p.Cys474Trp)| NM_000138.4:c.2554_2555dup (p.Cys853Leufs)| NM_000138.4:c.2896G>T (p.Glu966Ter)| NM_000138.4:c.5917+6T>C| NM_000138.4:c.6402dup (p.Asp2135Argfs)| NM_000138.4:c.5235_5236dup (p.Thr1746Ilefs)| NM_000138.4:c.1415G>A| NM_000138.4:c.3424_3427dupCCTG (p.Gly1143Alafs)| NM_000138.4:c.2786_2789dupCTAG (p.Arg930Serfs)| NM_000138.4:c.2306G>A (p.Cys769Tyr)| NM_000138.4:c.4526A>G (p.Tyr1509Cys)| NM_000138.4:c.1390C>G (p.Arg464Gly)| NM_000138.4:c.6163+2dupT| NM_000138.4:c.3589+36_3589+40delTTTTA| NM_000138.4:c.7881G>A (p.Gly2627=)| NM_000138.4:c.8385C>T (p.Ile2795=)| NM_000138.4:c.2645C>T (p.Ala882Val)| NM_000138.4:c.2581C>T (p.Arg861Ter)| NM_000138.4:c.640G>A (p.Gly214Ser)| NM_000138.4:c.5431G>A (p.Glu1811Lys)| NM_000138.4:c.4621C>T (p.Arg1541Ter)| NM_000138.4:c.2953G>A (p.Gly985Arg)| NM_000138.4:c.3442C>G (p.Pro1148Ala)| NM_000138.4:c.139G>A (p.Gly47Ser)| NM_000138.4:c.7412C>G (p.Pro2471Arg)| NM_000138.4:c.8300A>G (p.Asn2767Ser)| NM_000138.4:c.6997+4A>G| NM_000138.4:c.4727T>C (p.Met1576Thr)| NM_000138.4:c.59A>G (p.Tyr20Cys)| NM_000138.4:c.7039_7040delAT (p.Met2347Valfs)| NM_000138.4:c.8616A>G (p.Ter2872=)| NM_000138.4:c.8335G>T (p.Glu2779Ter)| NM_000138.4:c.826G>A (p.Gly276Arg)| NM_000138.4:c.8232G>C (p.Gln2744His)| NM_000138.4:c.8051+5G>A| NM_000138.4:c.8042T>G (p.Ile2681Arg)| NM_000138.4:c.7999G>T (p.Glu2667Ter)| NM_000138.4:c.7819+1G>T| NM_000138.4:c.7605C>G (p.Cys2535Trp)| NM_000138.4:c.7560G>A (p.Thr2520=)| NM_000138.4:c.7516G>A (p.Gly2506Ser)| NM_000138.4:c.7510A>T (p.Ile2504Phe)| NM_000138.4:c.7400A>G (p.Gln2467Arg)| NM_000138.4:c.7272A>G (p.Ser2424=)| NM_000138.4:c.7266A>G (p.Arg2422=)| NM_000138.4:c.7112G>A (p.Trp2371Ter)| NM_000138.4:c.6906T>G (p.Cys2302Trp)| NM_000138.4:c.687C>G (p.His229Gln)| NM_000138.4:c.6871+3A>T| NM_000138.4:c.6845G>A (p.Arg2282Gln)| NM_000138.4:c.6679T>C (p.Ser2227Pro)| NM_000138.4:c.6675T>C (p.Tyr2225=)| NM_000138.4:c.6645delG (p.Leu2216Serfs)| NM_000138.4:c.6631G>T (p.Ala2211Ser)| NM_000138.4:c.6616+1G>C| NM_000138.4:c.6549T>A (p.Asn2183Lys)| NM_000138.4:c.6391T>A (p.Cys2131Ser)| NM_000138.4:c.6347G>C (p.Gly2116Ala)| NM_000138.4:c.6327delG (p.Ile2110Tyrfs)| NM_000138.4:c.6207G>A (p.Lys2069=)| NM_000138.4:c.6099A>G (p.Glu2033=)| NM_000138.4:c.6049T>C (p.Cys2017Arg)| NM_000138.4:c.6048_6056delGTGTGTCGA (p.Cys2017_Glu2019del)| NM_000138.4:c.6038-1G>A| NM_000138.4:c.5824T>G (p.Cys1942Gly)| NM_000138.4:c.5821C>T (p.Leu1941Phe)| NM_000138.4:c.5788+4C>T| NM_000138.4:c.5788+2T>C| NM_000138.4:c.5755G>A (p.Gly1919Ser)| NM_000138.4:c.5512G>A (p.Gly1838Ser)| NM_000138.4:c.5511C>T (p.Pro1837=)| NM_000138.4:c.5431G>T (p.Glu1811Ter)| NM_000138.4:c.5347A>T (p.Ile1783Phe)| NM_000138.4:c.4943-4A>G| NM_000138.4:c.4891T>A (p.Cys1631Ser)| NM_000138.4:c.4821delTinsCA (p.Asp1608Argfs)| NM_000138.4:c.4817-2A>G| NM_000138.4:c.4747+5G>T| NM_000138.4:c.4719T>C (p.Pro1573=)| NM_000138.4:c.4694C>T (p.Ser1565Phe)| NM_000138.4:c.4691G>A (p.Cys1564Tyr)| NM_000138.4:c.4635A>T (p.Gly1545=)| NM_000138.4:c.4582+5G>C| NM_000138.4:c.4582+2dup| NM_000138.4:c.4582+1G>T| NM_000138.4:c.4555delC (p.Leu1519Terfs)| NM_000138.4:c.4539C>G (p.Cys1513Trp)| NM_000138.4:c.4459+2T>G| NM_000138.4:c.443-1G>A| NM_000138.4:c.4395T>C (p.Pro1465=)| NM_000138.4:c.4337-2A>T| NM_000138.4:c.4316C>G (p.Ala1439Gly)| NM_000138.4:c.4293C>T (p.Cys1431=)| NM_000138.4:c.4293C>G (p.Cys1431Trp)| NM_000138.4:c.4244G>A (p.Cys1415Tyr)| NM_000138.4:c.4211-10C>T| NM_000138.4:c.4210+3A>G| NM_000138.4:c.406T>G (p.Cys136Gly)| NM_000138.4:c.4293C>A (p.Cys1431Ter)| NM_000138.4:c.3962dup (p.Asp1322Argfs)| NM_000138.4:c.3794G>C (p.Cys1265Ser)| NM_000138.4:c.3616G>C (p.Gly1206Arg)| NM_000138.4:c.3528G>A (p.Gly1176=)| NM_000138.4:c.3521T>C (p.Leu1174Pro)| NM_000138.4:c.3513C>T (p.Cys1171=)| NM_000138.4:c.3458G>A (p.Cys1153Tyr)| NM_000138.4:c.336dup (p.Ser113Leufs)| NM_000138.4:c.32T>A (p.Leu11Gln)| NM_000138.4:c.3295G>A (p.Glu1099Lys)| NM_000138.4:c.3145G>A (p.Gly1049Ser)| NM_000138.4:c.3123C>T (p.His1041=)| NM_000138.4:c.3098delA (p.Lys1033Argfs)| NM_000138.4:c.3061_3082+172del| NM_000138.4:c.3031G>A (p.Gly1011Arg)| NM_000138.4:c.2953G>T (p.Gly985Trp)| NM_000138.4:c.2950G>A (p.Val984Ile)| NM_000138.4:c.2877C>A (p.Phe959Leu)| NM_000138.4:c.2873G>C (p.Cys958Ser)| NM_000138.4:c.2771G>T (p.Gly924Val)| NM_000138.4:c.2738A>C (p.Glu913Ala)| NM_000138.4:c.2729-3delT| NM_000138.4:c.2721A>G (p.Gln907=)| NM_000138.4:c.2691T>C (p.Gly897=)| NM_000138.4:c.2682_2692delCATATGTGGTAinsTTTACC (p.Ile895Leufs)| NM_000138.4:c.2677+5G>A| NM_000138.4:c.2647T>C (p.Trp883Arg)| NM_000138.4:c.2626T>C (p.Cys876Arg)| NM_000138.4:c.2416G>A (p.Glu806Lys)| NM_000138.4:c.2289C>T (p.Cys763=)| NM_000138.4:c.2245A>G (p.Ile749Val)| NM_000138.4:c.2168-9G>T| NM_000138.4:c.1983C>G (p.Cys661Trp)| NM_000138.4:c.1862G>A (p.Gly621Glu)| NM_000138.4:c.1670G>T (p.Cys557Phe)| NM_000138.4:c.1668G>A (p.Val556=)| NM_000138.4:c.1573C>T (p.Arg525Trp)| NM_000138.4:c.1535C>T (p.Thr512Ile)| NM_000138.4:c.1462T>C (p.Cys488Arg)| NM_000138.4:c.1410delG (p.Ser471Valfs)| NM_000138.4:c.139G>T (p.Gly47Cys)| NM_000138.4:c.1287dup (p.Pro430Thrfs)| NM_000138.4:c.1086C>T (p.Ala362=)| NM_000138.4:c.1079G>A (p.Cys360Tyr)| NC_000015.10:g.(?_48508562)_(48644789_?)del| NC_000015.10:g.(?_48508562)_(48516382_?)del| NC_000015.10:g.(?_48503767)_(48510189_?)del| NC_000015.10:g.(?_48415161)_(48468554_?)del| NC_000015.10:g.(?_48410970)_(48644789_?)del| NC_000015.10:g.(?_48410970)_(48537828_?)del| NC_000015.10:g.(?_48410970)_(48497411_?)del| NM_000138.4:c.2017C>T (p.Pro673Ser)| NM_000138.4:c.6503A>G (p.Asp2168Gly)| NM_000138.4:c.7204+7C>G| NM_000138.4:c.1570dup (p.Thr524Asnfs)| NM_000138.4:c.917delA (p.Asn306Thrfs)| NM_000138.4:c.1533C>T (p.Tyr511=)| NM_000138.4:c.4362C>T (p.Asn1454=)| NM_000138.4:c.1469-5T>G| NM_000138.4:c.4583-5A>C| NM_000138.4:c.1761T>C (p.Cys587=)| NM_000138.4:c.1476T>C (p.Asp492=)| NM_000138.4:c.2376C>T (p.Cys792=)| NM_000138.4:c.5292C>T (p.Pro1764=)| NM_000138.4:c.6342A>C (p.Gly2114=)| NM_000138.4:c.2835C>T (p.Ala945=)| NM_000138.4:c.3054A>G (p.Glu1018=)| NM_000138.4:c.942A>G (p.Lys314=)| NM_000138.4:c.2892C>T (p.Asp964=)| NM_000138.4:c.2628C>T (p.Cys876=)| NM_000138.4:c.2886C>T (p.Tyr962=)| NM_000138.4:c.4089T>C (p.Asp1363=)| NM_000138.4:c.7330+7G>A| NM_000138.4:c.7701C>T (p.Asp2567=)| NM_000138.4:c.1628A>T (p.Asn543Ile)| NM_000138.4:c.5776A>G (p.Asn1926Asp)| NM_000138.4:c.3226A>C (p.Ile1076Leu)| NM_000138.4:c.2714G>A (p.Gly905Glu)| NM_000138.4:c.8270A>G (p.Asp2757Gly)| NM_000138.4:c.5720A>G (p.Asn1907Ser)| NM_000138.4:c.8471C>A (p.Ala2824Asp)| NM_000138.4:c.2657C>T (p.Pro886Leu)| NM_000138.4:c.260A>G (p.His87Arg)| NM_000138.4:c.494G>C (p.Arg165Pro)| NM_000138.4:c.1235T>A (p.Val412Asp)| NM_000138.4:c.1525G>T (p.Gly509Cys)| NM_000138.4:c.6626A>C (p.Glu2209Ala)| NM_000138.4:c.2677+3A>G| NM_000138.4:c.4999G>A (p.Val1667Ile)| NM_000138.4:c.7881dupG (p.Ser2628Glufs)| NM_000138.4:c.3881G>T (p.Gly1294Val)| NM_000138.4:c.4367G>T (p.Cys1456Phe)| NM_000138.4:c.3506G>A (p.Gly1169Asp)| NM_000138.4:c.8051+375G>T| NM_000138.4:c.7235T>C (p.Val2412Ala)| NM_000138.4:c.7421delA (p.Tyr2474Serfs)| NM_000138.4:c.2547C>G (p.Ile849Met)| NM_000138.4:c.5664G>A (p.Met1888Ile)| NM_000138.4:c.124G>C (p.Ala42Pro)| NM_000138.4:c.8393G>A (p.Gly2798Glu)| NM_000138.4:c.2420-8T>A| NM_000138.4:c.6140C>T (p.Ser2047Phe)| NM_000138.4:c.8226G>T (p.Glu2742Asp)| NM_000138.4:c.8327G>A (p.Arg2776Gln)| NM_000138.4:c.2928C>T (p.Arg976=)| NM_000138.4:c.1754G>C (p.Gly585Ala)| NM_000138.4:c.3785G>A (p.Arg1262Lys)| NM_000138.4:c.1837+4C>T| NM_000138.4:c.6397_6399delGAA (p.Glu2133del)| NM_000138.4:c.2952C>A (p.Val984=)| NM_000138.4:c.5582G>A (p.Ser1861Asn)| NM_000138.4:c.1538G>T (p.Cys513Phe)| NM_000138.4:c.4772G>A (p.Gly1591Glu)| NM_000138.4:c.6740A>G (p.Asp2247Gly)| NM_000138.4:c.7980C>G (p.Ser2660Arg)| NM_000138.4:c.5672-87A>G| NM_000138.4:c.8591T>A (p.Met2864Lys)| NM_000138.4:c.6808G>T (p.Gly2270Cys)| NM_000138.4:c.6784C>T (p.Gln2262Ter)| NM_000138.4:c.7848C>G (p.Ile2616Met)| NM_000138.4:c.2305T>C (p.Cys769Arg)| NM_000138.4:c.737-9A>G| NM_000138.4:c.7121A>G (p.His2374Arg)| NM_000138.4:c.7703_7708delTGGACG (p.Val2568_Asp2569del)| NM_000138.4:c.2723G>C (p.Cys908Ser)| NM_000138.4:c.6054C>T (p.Val2018=)| NM_000138.4:c.863-3C>T| NM_000138.4:c.2113+2T>G| NM_000138.4:c.8232G>A (p.Gln2744=)| NM_000138.4:c.1838-6C>T| NM_000138.4:c.273T>C (p.Asp91=)| NM_000138.4:c.7204+3A>G| NM_000138.4:c.6043G>A (p.Asp2015Asn)| NM_000138.4:c.6837G>A (p.Gly2279=)| NM_000138.4:c.75G>A (p.Ala25=)| NM_000138.4:c.1908A>G (p.Arg636=)| NM_000138.4:c.6302C>T (p.Thr2101Met)| M_0001):c.6129G>C (p.Gly2043=)| NM_000138.4:c.5725A>C (p.Ile1909Leu)| NM_000138.4:c.8177G>A (p.Arg2726Gln)| NM_000138.4:c.7317G>C (p.Gly2439=)| NM_000138.4:c.6313+5G>A| NM_000138.4:c.6272G>A (p.Gly2091Asp)| NM_000138.4:c.5142G>A (p.Met1714Ile)| NM_000138.4:c.5066-7C>G| NM_000138.4:c.4816+8_4816+9insACCTTCCTTT| NM_000138.4:c.434G>A (p.Cys145Tyr)| NM_000138.4:c.3411C>T (p.Arg1137=)| NM_000138.4:c.2543C>A (p.Thr848Asn)| NM_000138.4:c.2539+10T>A| NM_000138.4:c.2206A>G (p.Asn736Asp)| NM_000138.4:c.2171T>C (p.Ile724Thr)| NM_000138.4:c.1961-7T>C| NM_000138.4:c.1884C>T (p.Cys628=)| NM_000138.4:c.5918-2A>G| NM_000138.4:c.338C>G (p.Ser113Cys)| NM_000138.4:c.5555A>G (p.Glu1852Gly)| NM_000138.4:c.7994A>G (p.Asn2665Ser)| NM_000138.4:c.7624C>T (p.Gln2542Ter)| NM_000138.4:c.7531T>C (p.Cys2511Arg)| NM_000138.4:c.7529A>G (p.Lys2510Arg)| NM_000138.4:c.6052G>A (p.Val2018Ile)| NM_000138.4:c.5699G>A (p.Cys1900Tyr)| NM_000138.4:c.4437C>G (p.Asp1479Glu)| NM_000138.4:c.4214T>G (p.Leu1405Arg)| NM_000138.4:c.3718G>A (p.Asp1240Asn)| NM_000138.4:c.2638G>A (p.Gly880Ser)| NM_000138.4:c.1589A>G (p.Asp530Gly)| NM_000138.4:c.2930T>G (p.Met977Arg)| NM_000138.4:c.3590-8T>C| NM_000138.4:c.4505G>A (p.Cys1502Tyr)| NM_000138.4:c.4337A>T (p.Asp1446Val)| NM_000138.4:c.2188G>A (p.Asp730Asn)| NM_000138.4:c.7230C>T (p.His2410=)| NM_000138.4:c.3095G>A (p.Cys1032Tyr)| NM_000138.4:c.6801C>G (p.Asn2267Lys)| NM_000138.4:c.4043G>A (p.Cys1348Tyr)| NM_000138.4:c.1278G>A (p.Pro426=)| NM_000138.4:c.2094G>T (p.Pro698=)| NM_000138.4:c.1323A>G (p.Pro441=)| NM_000138.4:c.6025G>A (p.Glu2009Lys)| NM_000138.4:c.8038C>T (p.Arg2680Cys)| NM_000138.4:c.6169C>T (p.Arg2057Ter)| NM_000138.4:c.6705A>C (p.Gly2235=)| NM_000138.4:c.247+10T>C| NM_000138.4:c.7846A>G (p.Ile2616Val)| NM_000138.4:c.3026C>G (p.Pro1009Arg)| NM_000138.4:c.6431A>G (p.Asn2144Ser)| NM_000138.4:c.433T>C (p.Cys145Arg)| NM_000138.4:c.4998C>G (p.Thr1666=)| NM_000138.4:c.1821T>C (p.Asp607=)| NM_000138.4:c.4998C>T (p.Thr1666=)| NM_000138.4:c.7902C>T (p.Pro2634=)| NM_000138.4:c.5423-4G>A| NM_000138.4:c.4443C>T (p.Ser1481=)| NM_000138.4:c.6164-3C>T| NM_000138.4:c.2147G>A (p.Gly716Glu)| NM_000138.4:c.6354C>G (p.Ile2118Met)| NM_000138.4:c.6372A>G (p.Ser2124=)| NM_000138.4:c.3164G>A (p.Cys1055Tyr)| NM_000138.4:c.83A>G (p.Asn28Ser)| NM_000138.4:c.1289C>T (p.Pro430Leu)| NM_000138.4:c.2187A>C (p.Leu729=)| NM_000138.4:c.8006G>T (p.Gly2669Val)| NM_000138.4:c.5065+10A>G| NM_000138.4:c.7241G>A (p.Arg2414Gln)| NM_000138.4:c.6288C>T (p.Cys2096=)| NM_000138.4:c.4567C>T (p.Arg1523Ter)| NM_000138.4:c.7828G>A (p.Glu2610Lys)| NM_000138.4:c.1265G>A (p.Gly422Glu)| NM_000138.4:c.8005G>T (p.Gly2669Cys)| NM_000138.4:c.7950T>C (p.Asn2650=)| NM_000138.4:c.6834C>T (p.Pro2278=)| NM_000138.4:c.1846G>A (p.Glu616Lys)| NM_000138.4:c.3193delG (p.Glu1065Lysfs)| NM_000138.4:c.3082+8delG| NM_000138.4:c.2055C>T (p.Cys685=)| NM_000138.4:c.8080C>T (p.Arg2694Ter)| NM_000138.4:c.4406G>C (p.Arg1469Pro)| NM_000138.4:c.539-15delA| NM_000138.4:c.4460-8G>A| NM_000138.4:c.266G>A (p.Cys89Tyr)| NM_000138.4:c.7540G>A (p.Gly2514Arg)| NM_000138.4:c.1546C>T (p.Arg516Ter)| NM_000138.4:c.3373C>T (p.Arg1125Ter)| NM_000138.4:c.1879C>T (p.Arg627Cys)| NM_000138.4:c.3012C>G (p.Tyr1004Ter)| NM_000138.4:c.247+1G>A| NM_000138.4:c.2920C>T (p.Arg974Cys)| NM_000138.4:c.5343G>A (p.Val1781=)| NM_000138.4:c.3294C>T (p.Asp1098=)| NM_000138.4:c.3058A>G (p.Thr1020Ala)| NM_000138.4:c.2927G>A (p.Arg976His)| NM_000138.4:c.4615C>T (p.Arg1539Ter)| NM_000138.4:c.7852G>A (p.Gly2618Arg)| NM_000138.4:c.1090C>T (p.Arg364Ter)| NM_000138.4:c.4270C>G (p.Pro1424Ala)| NM_000138.4:c.8149G>A (p.Glu2717Lys)| NM_000138.4:c.902G>T (p.Gly301Val)| NM_000138.4:c.3422C>T (p.Pro1141Leu)| NM_000138.4:c.4306G>A (p.Val1436Met)| NM_000138.4:c.7048A>G (p.Ile2350Val)| NM_+1759:1847000138.4:c.-388C>T| NM_000138.4:c.-387_-384delTCTC| NM_000138.4:c.-371T>C| NM_000138.4:c.-319G>T| NM_000138.4:c.-136G>C| NM_000138.4:c.-132A>C| NM_000138.4:c.-98G>T| NM_000138.4:c.-70C>A| NM_000138.4:c.223C>T (p.Pro75Ser)| NM_000138.4:c.396T>C (p.Asp132=)| NM_000138.4:c.589G>C (p.Gly197Arg)| NM_000138.4:c.723G>A (p.Thr241=)| NM_000138.4:c.885T>G (p.Ile295Met)| NM_000138.4:c.1193G>A (p.Arg398Lys)| NM_000138.4:c.1468+4C>A| NM_000138.4:c.2903C>T (p.Thr968Ile)| NM_000138.4:c.2979C>T (p.Cys993=)| NM_000138.4:c.3740A>T (p.Asn1247Ile)| NM_000138.4:c.4336+11G>A| NM_000138.4:c.5405A>G (p.Lys1802Arg)| NM_000138.4:c.5672-15C>G| NM_000138.4:c.5788+4C>A| NM_000138.4:c.6264G>C (p.Lys2088Asn)| NM_000138.4:c.6357G>C (p.Val2119=)| NM_000138.4:c.6801C>T (p.Asn2267=)| NM_000138.4:c.8011C>T (p.Leu2671=)| NM_000138.4:c.*57A>G| NM_000138.4:c.*202_*203delAT| NM_000138.4:c.*254C>T| NM_000138.4:c.*268G>C| NM_000138.4:c.*286C>T| NM_000138.4:c.*314C>T| NM_000138.4:c.*406G>T| NM_000138.4:c.*724A>C| NM_000138.4:c.*730G>T| NM_000138.4:c.*764G>A| NM_000138.4:c.*867G>T| NM_000138.4:c.*938G>T| NM_000138.4:c.*948G>T| NM_000138.4:c.*960delG| NM_000138.4:c.*967C>T| NM_000138.4:c.*987C>T| NM_000138.4:c.*1007G>T| NM_000138.4:c.*1084T>C| NM_000138.4:c.*1228T>C| NM_000138.4:c.*1245C>T| NM_000138.4:c.*1252A>G| NM_000138.4:c.*1298C>G| NM_000138.4:c.*1325T>C| NM_000138.4:c.*1368A>G| NM_000138.4:c.*1396C>T| NM_000138.4:c.*1398G>C| NM_000138.4:c.*1437G>A| NM_000138.4:c.*1477C>A| NM_000138.4:c.*1484C>T| NM_000138.4:c.*1562G>T| NM_000138.4:c.*1575T>G| NM_000138.4:c.*1580G>A| NM_000138.4:c.*1619T>A| NM_000138.4:c.*1635C>A| NM_000138.4:c.*1672G>A| NM_000138.4:c.*1706C>A| NM_000138.4:c.*1720C>T| NM_000138.4:c.*1733A>G| NM_000138.4:c.*1943G>T| NM_000138.4:c.*1949T>C| NM_000138.4:c.*1950dupT| NM_000138.4:c.*1959G>A| NM_000138.4:c.*1989C>T| NM_000138.4:c.*2024A>G| NM_000138.4:c.*2040T>C| NM_000138.4:c.*2078G>T| NM_000138.4:c.*2091G>A| NM_000138.4:c.*2114T>A| NM_000138.4:c.*2153A>G| NM_000138.4:c.*2158G>A| NM_000138.4:c.*2221A>G| NM_000138.4:c.*2260C>A| NM_000138.4:c.*2360C>G| NM_000138.4:c.*2395G>A| NM_000138.4:c.*2398G>T| NM_000138.4:c.*2421C>A| NM_000138.4:c.*2443G>T| NM_000138.4:c.*2524A>G| NM_000138.4:c.*2533C>A| NM_000138.4:c.*2556G>A| NM_000138.4:c.*2578C>T| NM_000138.4:c.*2594G>T| NM_000138.4:c.*2638T>C| NM_000138.4:c.*2674T>A| NM_000138.4:c.6095C>G (p.Thr2032Ser)| NM_000138.4:c.8310C>T (p.His2770=)| NM_000138.4:c.1602T>C (p.Cys534=)| NM_000138.4:c.1837+9T>C| NM_000138.4:c.3171C>T (p.Ser1057=)| NM_000138.4:c.3337+11G>A| NM_000138.4:c.3896C>T (p.Thr1299Met)| NM_000138.4:c.5724A>G (p.Thr1908=)| NM_000138.4:c.8202C>T (p.Asn2734=)| NM_000138.4:c.8227-3C>T| NM_000138.4:c.5917+3A>G| NM_000138.4:c.-176A>T| NM_000138.4:c.4313G>A (p.Ser1438Asn)| NM_000138.4:c.-35C>T| NM_000138.4:c.8071G>A (p.Gly2691Ser)| NM_000138.4:c.7661G>A (p.Arg2554Gln)| NM_000138.4:c.6314-15G>A| NM_000138.4:c.5296+14G>A| NM_000138.4:c.5066-14dupT| NM_000138.4:c.538+4A>G| NM_000138.4:c.3570C>T (p.Pro1190=)| NM_000138.4:c.8185A>C (p.Lys2729Gln)| NM_000138.4:c.2420-8T>C| NM_000138.4:c.3069G>A (p.Lys1023=)| NM_000138.4:c.4640C>T (p.Thr1547Ile)| NM_000138.4:c.3936C>T (p.Ser1312=)| NM_000138.4:c.5788+10C>A| NM_000138.4:c.7497A>G (p.Leu2499=)| NM_000138.4:c.3463+3A>G| NM_000138.4:c.2855-9C>T| NM_000138.4:c.2175T>C (p.Asn725=)| NM_000138.4:c.6987C>G (p.Asp2329Glu)| NM_000138.4:c.7056C>T (p.Ser2352=)| NM_000138.4:c.783T>C (p.Asn261=)| NM_000138.4:c.3890A>G (p.Glu1297Gly)| NM_000138.4:c.7098C>T (p.Asp2366=)| NM_000138.4:c.6393C>T (p.Cys2131=)| NM_000138.4:c.1029G>A (p.Gly343=)| NM_000138.4:c.2895G>A (p.Glu965=)| NM_000138.4:c.1371C>G (p.Arg457=)| NM_000138.4:c.3082+6A>G| NM_000138.4:c.3965-8T>C| NM_000138.4:c.3675G>A (p.Pro1225=)| NM_000138.4:c.7819+8A>C| NM_000138.4:c.6888G>A (p.Gln2296=)| NM_000138.4:c.6855T>C (p.Asp2285=)| NM_000138.4:c.8502T>C (p.Thr2834=)| NM_000138.4:c.8283A>T (p.Thr2761=)| NM_000138.4:c.79G>A (p.Ala27Thr)| NM_000138.4:c.6681A>C (p.Ser2227=)| NM_000138.4:c.156G>T (p.Ala52=)| NM_000138.4:c.986T>C (p.Ile329Thr)| NM_000138.4:c.6594C>T (p.Pro2198=)| NM_000138.4:c.510C>T (p.Tyr170=)| NM_000138.4:c.1746C>T (p.Cys582=)| NM_000138.4:c.306C>T (p.Cys102=)| NM_000138.4:c.4905C>G (p.Thr1635=)| NM_000138.4:c.6832C>T (p.Pro2278Ser)| NM_000138.4:c.1027G>A (p.Gly343Arg)| NM_000138.4:c.2956G>A (p.Ala986Thr)| NM_000138.4:c.8363C>T (p.Thr2788Met)| NM_000138.4:c.3089A>G (p.Asn1030Ser)| NM_000138.4:c.3423G>A (p.Pro1141=)| NM_000138.4:c.5442C>T (p.Asn1814=)| NM_000138.4:c.3509G>A (p.Arg1170His)| NM_000138.4:c.3464-5G>A| NM_000138.4:c.1875T>C (p.Asn625=)| NM_000138.4:c.8176C>T (p.Arg2726Trp)| NM_000138.4:c.4588C>T (p.Arg1530Cys)| NM_000138.4:c.4786C>T (p.Arg1596Ter)| NM_000138.4:c.7754T>C (p.Ile2585Thr)| NM_000138.4:c.1468+5G>A| NM_000138.4:c.6806T>C (p.Ile2269Thr)| rs1036476| rs6493333| rs920184| rs1354738| rs140605| rs11634866| rs2306352| rs2303500| rs9806163| rs7184016| rs2303502| rs4775762| rs8041668| rs2448485| rs589668| rs714290| rs682938| rs2042747| rs9806323| rs2437946| rs2247876| rs16960901| rs6493328| rs8034591| rs11635140| rs1042078| rs8026752| rs16961065| rs8034829| rs6493327| rs2015637| rs1678983| rs1678978| rs668842| rs612617| rs1678979| rs683282| rs626492| rs598029| rs2437948| rs1506524| rs1807301| rs2433394| rs2466792| rs1812873| rs2413906| rs11070644| rs2555470| rs8029993| rs1678982| rs1678981| rs686861| rs636178| rs682737| rs2456475| rs655015| rs2455925| rs2466790| rs591519| rs627634| rs7174973| rs689304| rs595244| rs11634611| rs10744953| rs3929051| rs6493325| rs11635605| rs9920570| rs625034| rs1467953| rs12916536| del EX1-5| full gene del chr15:46,208,030-46,750,218/Hg 18| rs9806323| rs2289136" PMID: 21936929| PMID: 26272055| PMID: 24793577| PMID: 19293843| PMID: 10464652| PMID: 22772377| PMID: 23142374| PMID: 21909107| PMID: 27558095| PMID: 26621581| PMID: 25907466| PMID: 24743685| PMID: 23897642| ClinVar: 517135| ClinVar: 517133| ClinVar: 517130| ClinVar: 517128| ClinVar: 517125| ClinVar: 517124| ClinVar: 517123| ClinVar: 517122| ClinVar: 517120| ClinVar: 517117| ClinVar: 517116| ClinVar: 263845| ClinVar: 200158| ClinVar: 200157| ClinVar: 199995| ClinVar: 180355| ClinVar: 155790| ClinVar: 200167| ClinVar: 255294| ClinVar: 42435| ClinVar: 42444| ClinVar: 200001| ClinVar: 265401| ClinVar: 199956| ClinVar: 200063| ClinVar: 200052| ClinVar: 200008| ClinVar: 36065| ClinVar: 200029| ClinVar: 36115| ClinVar: 406312| ClinVar: 163464| ClinVar: 200054| ClinVar: 161245| ClinVar: 200171| ClinVar: 457272| ClinVar: 457271| ClinVar: 457270| ClinVar: 457269| ClinVar: 457268| ClinVar: 457267| ClinVar: 457266| ClinVar: 457265| ClinVar: 457264| ClinVar: 457263| ClinVar: 457262| ClinVar: 457261| ClinVar: 457260| ClinVar: 457259| ClinVar: 457258| ClinVar: 457257| ClinVar: 457256| ClinVar: 457255| ClinVar: 457254| ClinVar: 457253| ClinVar: 457251| ClinVar: 457250| ClinVar: 457249| ClinVar: 457248| ClinVar: 457247| ClinVar: 457246| ClinVar: 457245| ClinVar: 457244| ClinVar: 457243| ClinVar: 457242| ClinVar: 457241| ClinVar: 457240| ClinVar: 457239| ClinVar: 457238| ClinVar: 457237| ClinVar: 457236| ClinVar: 457235| ClinVar: 457234| ClinVar: 457233| ClinVar: 457232| ClinVar: 457231| ClinVar: 457230| ClinVar: 457229| ClinVar: 457228| ClinVar: 457227| ClinVar: 457226| ClinVar: 457225| ClinVar: 457224| ClinVar: 457223| ClinVar: 457222| ClinVar: 457221| ClinVar: 457220| ClinVar: 457219| ClinVar: 457218| ClinVar: 457217| ClinVar: 457216| ClinVar: 457215| ClinVar: 457214| ClinVar: 457213| ClinVar: 457212| ClinVar: 457210| ClinVar: 457209| ClinVar: 457208| ClinVar: 457207| ClinVar: 457206| ClinVar: 457205| ClinVar: 457204| ClinVar: 457203| ClinVar: 457201| ClinVar: 457200| ClinVar: 457199| ClinVar: 457198| ClinVar: 457197| ClinVar: 457196| ClinVar: 457195| ClinVar: 457194| ClinVar: 457193| ClinVar: 457192| ClinVar: 457191| ClinVar: 457190| ClinVar: 457189| ClinVar: 457188| ClinVar: 457187| ClinVar: 457186| ClinVar: 457185| ClinVar: 457184| ClinVar: 457183| ClinVar: 457182| ClinVar: 457181| ClinVar: 457180| ClinVar: 457179| ClinVar: 457178| ClinVar: 457177| ClinVar: 457176| ClinVar: 457175| ClinVar: 457174| ClinVar: 457173| ClinVar: 457172| ClinVar: 457171| ClinVar: 457170| ClinVar: 457169| ClinVar: 457168| ClinVar: 457167| ClinVar: 457166| ClinVar: 457165| ClinVar: 457164| ClinVar: 457163| ClinVar: 457162| ClinVar: 457161| ClinVar: 457160| ClinVar: 457159| ClinVar: 457158| ClinVar: 457157| ClinVar: 457156| ClinVar: 457155| ClinVar: 457154| ClinVar: 457153| ClinVar: 457152| ClinVar: 457151| ClinVar: 457150| ClinVar: 452287| ClinVar: 449437| ClinVar: 444339| ClinVar: 431982| ClinVar: 419091| ClinVar: 413902| ClinVar: 413901| ClinVar: 413900| ClinVar: 413899| ClinVar: 413898| ClinVar: 413897| ClinVar: 413896| ClinVar: 413895| ClinVar: 413894| ClinVar: 413893| ClinVar: 413892| ClinVar: 413891| ClinVar: 413890| ClinVar: 413889| ClinVar: 413888| ClinVar: 413887| ClinVar: 413886| ClinVar: 413885| ClinVar: 406372| ClinVar: 406371| ClinVar: 406367| ClinVar: 406364| ClinVar: 406361| ClinVar: 406360| ClinVar: 406357| ClinVar: 406356| ClinVar: 406353| ClinVar: 406352| ClinVar: 406350| ClinVar: 406345| ClinVar: 406344| ClinVar: 406343| ClinVar: 406339| ClinVar: 406338| ClinVar: 406334| ClinVar: 406329| ClinVar: 406328| ClinVar: 406327| ClinVar: 406326| ClinVar: 406324| ClinVar: 406321| ClinVar: 406318| ClinVar: 406316| ClinVar: 406309| ClinVar: 406306| ClinVar: 406305| ClinVar: 406304| ClinVar: 406302| ClinVar: 406299| ClinVar: 406298| ClinVar: 406297| ClinVar: 406295| ClinVar: 406291| ClinVar: 406290| ClinVar: 406289| ClinVar: 406288| ClinVar: 406285| ClinVar: 406283| ClinVar: 406281| ClinVar: 406280| ClinVar: 406279| ClinVar: 406276| ClinVar: 406274| ClinVar: 406273| ClinVar: 406272| ClinVar: 406270| ClinVar: 406268| ClinVar: 406264| ClinVar: 389343| ClinVar: 388482| ClinVar: 388201| ClinVar: 384222| ClinVar: 377863| ClinVar: 377859| ClinVar: 377856| ClinVar: 372922| ClinVar: 289267| ClinVar: 284076| ClinVar: 281713| ClinVar: 264230| ClinVar: 264000| ClinVar: 263463| ClinVar: 263396| ClinVar: 237107| ClinVar: 237103| ClinVar: 237102| ClinVar: 237101| ClinVar: 237096| ClinVar: 237095| ClinVar: 237093| ClinVar: 237091| ClinVar: 237088| ClinVar: 237087| ClinVar: 237086| ClinVar: 237085| ClinVar: 237084| ClinVar: 237082| ClinVar: 237081| ClinVar: 222617| ClinVar: 222600| ClinVar: 220855| ClinVar: 200124| ClinVar: 200119| ClinVar: 200115| ClinVar: 200114| ClinVar: 200073| ClinVar: 200066| ClinVar: 200044| ClinVar: 200041| ClinVar: 200024| ClinVar: 200000| ClinVar: 199973| ClinVar: 195848| ClinVar: 137306| ClinVar: 42363| ClinVar: 42358| ClinVar: 42299| ClinVar: 36113| ClinVar: 16462| ClinVar: 457252| ClinVar: 457202| ClinVar: 381538| ClinVar: 264529| ClinVar: 237080| ClinVar: 200190| ClinVar: 200127| ClinVar: 200076| ClinVar: 199951| ClinVar: 178035| ClinVar: 161237| ClinVar: 36061| ClinVar: 16431| ClinVar: 457211| ClinVar: 381319| ClinVar: 377858| ClinVar: 281682| ClinVar: 263699| ClinVar: 237098| ClinVar: 237090| ClinVar: 200074| ClinVar: 199989| ClinVar: 180039| ClinVar: 42399| ClinVar: 42327| ClinVar: 36130| ClinVar: 406265| ClinVar: 379576| ClinVar: 263642| ClinVar: 178929| ClinVar: 161234| ClinVar: 137310| ClinVar: 42365| ClinVar: 264272| ClinVar: 200178| ClinVar: 200125| ClinVar: 42437| ClinVar: 42410| ClinVar: 42294| ClinVar: 36064| ClinVar: 36062| ClinVar: 36044| ClinVar: 163461| ClinVar: 42361| ClinVar: 36087| ClinVar: 36075| ClinVar: 200141| ClinVar: 178034| ClinVar: 42285| ClinVar: 179632| ClinVar: 163480| ClinVar: 42324| ClinVar: 42307| ClinVar: 39667| ClinVar: 42381| ClinVar: 42330| ClinVar: 42325| ClinVar: 42321| ClinVar: 42366| ClinVar: 42434| ClinVar: 199963| ClinVar: 42355| ClinVar: 237106| ClinVar: 199960| ClinVar: 42334| ClinVar: 42356| ClinVar: 200101| ClinVar: 316401| ClinVar: 316400| ClinVar: 316399| ClinVar: 316398| ClinVar: 316397| ClinVar: 316396| ClinVar: 316395| ClinVar: 316394| ClinVar: 316393| ClinVar: 316392| ClinVar: 316390| ClinVar: 316389| ClinVar: 316388| ClinVar: 316387| ClinVar: 316385| ClinVar: 316382| ClinVar: 316381| ClinVar: 316376| ClinVar: 316374| ClinVar: 316373| ClinVar: 316372| ClinVar: 316370| ClinVar: 316368| ClinVar: 316367| ClinVar: 316366| ClinVar: 316363| ClinVar: 316359| ClinVar: 316358| ClinVar: 316357| ClinVar: 316356| ClinVar: 316355| ClinVar: 316354| ClinVar: 316353| ClinVar: 316352| ClinVar: 316351| ClinVar: 316350| ClinVar: 316349| ClinVar: 316348| ClinVar: 316347| ClinVar: 316346| ClinVar: 316345| ClinVar: 316344| ClinVar: 316343| ClinVar: 316342| ClinVar: 316341| ClinVar: 316340| ClinVar: 316339| ClinVar: 316338| ClinVar: 316337| ClinVar: 316336| ClinVar: 316335| ClinVar: 316334| ClinVar: 316333| ClinVar: 316332| ClinVar: 316331| ClinVar: 316330| ClinVar: 316329| ClinVar: 316328| ClinVar: 316327| ClinVar: 316326| ClinVar: 316325| ClinVar: 316324| ClinVar: 316323| ClinVar: 316322| ClinVar: 316321| ClinVar: 316320| ClinVar: 316319| ClinVar: 316318| ClinVar: 316317| ClinVar: 316316| ClinVar: 316315| ClinVar: 316314| ClinVar: 316313| ClinVar: 316312| ClinVar: 316311| ClinVar: 316310| ClinVar: 316309| ClinVar: 316308| ClinVar: 316307| ClinVar: 316306| ClinVar: 316305| ClinVar: 316304| ClinVar: 316303| ClinVar: 316302| ClinVar: 316301| ClinVar: 316300| ClinVar: 316299| ClinVar: 316298| ClinVar: 316297| ClinVar: 316296| ClinVar: 316369| ClinVar: 316360| ClinVar: 316384| ClinVar: 316383| ClinVar: 316379| ClinVar: 316378| ClinVar: 316375| ClinVar: 316371| ClinVar: 316362| ClinVar: 316361| ClinVar: 199950| ClinVar: 137300| ClinVar: 155792| ClinVar: 137301| ClinVar: 42439| ClinVar: 316364| ClinVar: 228686| ClinVar: 137309| ClinVar: 178599| ClinVar: 316391| ClinVar: 316377| ClinVar: 199954| ClinVar: 137302| ClinVar: 316380| ClinVar: 42367| ClinVar: 237089| ClinVar: 42392| ClinVar: 137313| ClinVar: 42337| ClinVar: 42319| ClinVar: 42298| ClinVar: 316365| ClinVar: 263431| ClinVar: 237105| ClinVar: 200027| ClinVar: 199952| ClinVar: 137311| ClinVar: 137299| ClinVar: 42320| ClinVar: 316386| ClinVar: 137304| ClinVar: 36072| ClinVar: 36071| ClinVar: 42433| ClinVar: 42413| ClinVar: 42412| ClinVar: 36132| ClinVar: 36128| ClinVar: 163486| ClinVar: 42408| ClinVar: 42287| ClinVar: 36133| ClinVar: 36103| ClinVar: 36086| ClinVar: 36041| ClinVar: 137314| ClinVar: 36084| ClinVar: 36108| ClinVar: 161244| ClinVar: 36060| ClinVar: 263832| ClinVar: 263632| ClinVar: 42335| ClinVar: 42384| ClinVar: 16451| ClinVar: 137305| ClinVar: 42297| ClinVar: 16445| ClinVar: 36078| ClinVar: 36082| ClinVar: 163462| ClinVar: 42284| ClinVar: 36107 familial aneurysm| case report| in EUR population conflicting interpretations of pathogenicity "Secreted. Note=Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequently separated by furin (PubMed:24982166).. Asprosin: Secreted. Note=Secreted into the plasma.. Fibrillin-1: Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection FBN2 2201 NM_001999.3:c.891C>A (p.Gly297=)| NM_001999.3:c.1849+8A>G| NM_001999.3:c.8376C>T (p.Ile2792=)| NM_001999.3:c.3160C>T (p.Arg1054Cys)| NM_001999.3:c.1351_1356delTATGGC (p.Tyr451_Gly452del)| NM_001999.3:c.7808T>C (p.Phe2603Ser)| NM_001999.3:c.1961G>A (p.Arg654His)| NM_001999.3:c.287_289delACT (p.Tyr96del)| NM_001999.3:c.518C>T (p.Thr173Ile) ClinVar: 263387| ClinVar: 222632| ClinVar: 222631| ClinVar: 222627| ClinVar: 180363| ClinVar: 155797| ClinVar: 222626| ClinVar: 213385| ClinVar: 155796 conflicting interpretations of pathogenicity "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection FLNA 2316 "NM_001456.3:c.3972C-A, NP_001447.2:p.Y1324*| c.6238C>T, p.Leu2080Phe| c.7906G>A, p.Val2636Ile" PMID: 26188975| PMID: 25907466 "Cytoplasm, cell cortex. Cytoplasm, cytoskeleton." human Thoracic aortic aneurysm and dissection FOXE3 2301 "c.457G>C, p.Asp153His" PMID: 26854927 Nucleus. human Thoracic aortic aneurysm and dissection GATA5 140628 NM_080473.4:c.767G>A (p.Arg256Gln)| NM_080473.4:c.143G>T (p.Gly48Val)| NM_080473.4:c.1159C>T (p.Arg387Cys)| NM_080473.4:c.8A>G (p.Gln3Arg) ClinVar: 222642| ClinVar: 222641| ClinVar: 180368| ClinVar: 180366 uncertain significance| likely benign Nucleus. human Thoracic aortic aneurysm and dissection HES1 3280 aortic tissue: increase in RNA level PMID: 23300792 Nucleus. human Thoracic aortic aneurysm and dissection LOC101448202 101448202 NM_000093.4:c.4928A>G (p.Gln1643Arg)| NM_000093.4:c.5350G>A (p.Ala1784Thr) ClinVar: 180299| ClinVar: 180300 conflicting interpretations of pathogenicity human Thoracic aortic aneurysm and dissection LOC105370809 105370809 rs6493333 PMID: 21909107 in EUR population human Thoracic aortic aneurysm and dissection LOX 4015 "c.839G>T, p.Ser280Arg| c.604G>T, p.Gly202*| c.743C> T, p.Thr248Ile| c.800A>C, p.Gln267Pro| c.1044T>A, p.Ser348Arg,| c.125G>A, p.Trp42*| NM_002317.6:c.893T>G (p.Met298Arg)" PMID: 27344146| PMID: 27432961| PMID: 26838787| ClinVar: 228806 pathogenic/likely pathogenic "Secreted. Secreted, extracellular space." human Thoracic aortic aneurysm and dissection MAT2A 4144 NM_005911.5:c.6C>T (p.Asn2=)| NM_005911.5:c.698C>T (p.Ala233Val)| NM_005911.5:c.813T>C (p.Tyr271=)| NM_005911.5:c.54C>T (p.Phe18=)| NM_005911.5:c.501A>G (p.Leu167=)| NM_005911.5:c.438T>C (p.Thr146=)| NM_005911.5:c.108A>G (p.Gln36=)| NM_005911.5:c.318G>T (p.Val106=)| NM_005911.5:c.831T>C (p.His277=) ClinVar: 477586| ClinVar: 477585| ClinVar: 477587| ClinVar: 477584| ClinVar: 477583| ClinVar: 477582| ClinVar: 477581| ClinVar: 391336| ClinVar: 390649 likely benign| benign human Thoracic aortic aneurysm and dissection MFAP5 8076 "NM_002474.2:c.4942C-T, NP_003471.1:p.R158*| NM_002474.2:c.2135G-A, NP_003471.1:p.W21L| c.472C>T, p.Arg158| c.62G>T, p.Trp21Leu" PMID: 25434006 familial aneurysm "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection MIB1 57534 "NM_002474.2:c.4604G-A, NP_065825.1:p.R906*" PMID: 26188975 "Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell membrane. Note=Localizes to the plasma membrane (By similarity). According to PubMed:15048887, it is mitochondrial, however such localization remains unclear. Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock.." human Thoracic aortic aneurysm and dissection MMP1 4312 rs514921 PMID: 21964541 prognosis "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection MMP17 4326 p.Arg373His PMID: 25963716 case report "Isoform Long: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection MMP9 4318 -8202A/G PMID: 16678588 "Secreted, extracellular space, extracellular matrix." human Thoracic aortic aneurysm and dissection MYH11 4629 "NM_002474.2:c.3766_3768delAAG| NM_002474.2:c.5273G-A, NP_002465.1:p.K78E| rs111404182, NM_006258.3:c.1466A-T, NP_002465.1:p.R669C| c.3787 3789delAAG, p.Lys1263del| mutation| NM_002474.2:c.1A>G (p.Met1Val)| NM_001040113.1:c.-115delG| NM_002474.2:c.-88G>A| NM_002474.2:c.-67C>T| NM_002474.2:c.465C>T (p.Tyr155=)| NM_002474.2:c.540T>C (p.Ser180=)| NM_002474.2:c.720A>T (p.Ser240=)| NM_002474.2:c.727-11C>T| NM_002474.2:c.1249-15G>T| NM_002474.2:c.1356T>A (p.Ala452=)| NM_002474.2:c.1571G>A (p.Arg524Gln)| NM_002474.2:c.1879G>A (p.Gly627Ser)| NM_002474.2:c.2010C>T (p.Asn670=)| NM_002474.2:c.2041C>T (p.Pro681Ser)| NM_002474.2:c.2481C>T (p.Leu827=)| NM_002474.2:c.2665A>C (p.Lys889Gln)| NM_002474.2:c.2703G>T (p.Glu901Asp)| NM_002474.2:c.2997+10G>T| NM_002474.2:c.3311C>T (p.Ala1104Val)| NM_002474.2:c.3603C>G (p.His1201Gln)| NM_002474.2:c.3831G>A (p.Glu1277=)| NM_001040114.1:c.3879+480A>G| NM_002474.2:c.5919+5C>G| NM_001040114.1:c.2566C>T (p.Arg856Trp)| NM_001040113.1:c.3217G>A (p.Asp1073Asn)| NM_001040114.1:c.3879+807A>G| NM_001040114.1:c.3880-173T>C| NM_001040114.1:c.3880-171dupT| NM_001040114.1:c.3880-156T>G| NM_001040114.1:c.4138-101C>A| NM_001040114.1:c.4138-80G>C| NM_002474.2:c.4663C>G (p.Leu1555Val)| NM_002474.2:c.4791+13G>A| NM_002474.2:c.4808C>T (p.Thr1603Met)| NM_002474.2:c.*37C>A| NM_002474.2:c.*641C>A| NM_002474.2:c.4578+2dupT| NM_002474.2:c.-17-13C>T| NM_002474.2:c.3293+6G>A| NM_002474.2:c.1220T>C (p.Val407Ala)| NM_002474.2:c.472G>A (p.Ala158Thr)| NM_002474.2:c.3530C>T (p.Thr1177Met)| NM_002474.2:c.2741C>T (p.Ala914Val)| NM_001143979.1:c.*2090T>C| NM_001143979.1:c.*2030T>C| NM_001143979.1:c.*1981A>G| NM_001143979.1:c.*1808T>G| NM_001143979.1:c.*1784A>G| NM_001143979.1:c.*1723C>T| NM_001143979.1:c.*1663C>A| NM_001143979.1:c.*1571A>G| NM_001143979.1:c.*1389G>A| NM_001143979.1:c.*1299A>G| NM_001143979.1:c.*1220G>A| NM_001143979.1:c.*1155A>G| NM_001143979.1:c.*947G>A| NM_001143979.1:c.*943C>T| NM_001143979.1:c.*913A>C| NM_001143979.1:c.*899C>A| NM_001143979.1:c.*897_*898insC| NM_001143979.1:c.*911_*912dupCA| NM_001143979.1:c.*863C>G| NM_001143979.1:c.*593A>G| NM_001143979.1:c.*481T>A| NM_001143979.1:c.*438G>A| NM_001143979.1:c.*367T>C| NM_001143979.1:c.*344C>T| NM_001143979.1:c.*286G>A| NM_001143979.1:c.*290dupG| NM_001143979.1:c.*202G>A| NM_002474.2:c.4293C>T (p.Asp1431=)| NM_001143979.1:c.948-2611C>T| NM_001143979.1:c.948-3135C>T| NM_001143979.1:c.948-3908G>A| NM_001143979.1:c.948-4025C>T| NM_001143979.1:c.948-6953G>C| NM_001143979.1:c.948-6968G>A| NM_001143979.1:c.948-9257C>T| NM_001143979.1:c.948-9268G>C| NM_001143979.1:c.948-9270T>C| NM_002474.2:c.5886C>T (p.Asp1962=)| NM_001143979.1:c.947+7069_947+7073delTTTTT| NM_001143979.1:c.947+6903A>G| NM_001143979.1:c.947+6742G>C| NM_001143979.1:c.947+6711G>C| NM_001143979.1:c.947+6655_947+6656delGT| NM_001143979.1:c.947+6612A>G| NM_001143979.1:c.947+6587C>T| NM_001143979.1:c.947+6554T>C| NM_001143979.1:c.947+6469C>A| NM_001143979.1:c.947+6367C>T| NM_001143979.1:c.947+6327G>A| NM_001040113.1:c.1892G>A (p.Arg631His)| NM_002474.2:c.1848C>T (p.Ala616=)| NM_002474.2:c.546C>T (p.Ala182=)| NM_002474.2:c.1034-12T>G| NM_001143979.1:c.948-3351T>C| NM_002474.2:c.4809G>A (p.Thr1603=)| NM_002474.2:c.5172-5C>T| NM_002474.2:c.4016G>A (p.Arg1339His)| NM_001040113.1:c.5807+11C>T| NM_001040113.1:c.1270-11G>C| NM_002474.2:c.4579-13G>A| NM_002474.2:c.4116+12G>A| NM_002474.2:c.417C>T (p.Val139=)| NM_002474.2:c.2472C>T (p.Ala824=)| NM_002474.2:c.2061C>T (p.Ser687=)| NM_002474.2:c.1743T>C (p.Ala581=)| NM_022844.2:c.*146C>G| NM_001040113.1:c.2229C>T (p.Ile743=)| NM_001040113.1:c.3721G>A (p.Ala1241Thr)| MYH11:c.503-14_503-12del| NM_002474.2:c.2412-9C>A| NM_001040113.1:c.4882A>C (p.Lys1628Gln)| NM_001040113.1:c.5193-14C>T| NM_001040113.1:c.4791G>A (p.Lys1597=)| NM_022844.2:c.2135G>A (p.Arg712Gln)| NM_002474.2:c.2058+10G>A| NM_002474.2:c.1575+8delG| NM_022844.2:c.5787-11_5787-8delCTCT| NM_002474.2:c.3651+6_3651+11delGCTTTT| NM_002474.2:c.3766A>C (p.Lys1256Gln)| NM_002474.2:c.3651+5T>G| NM_001143979.1:c.948-5858G>A| NM_002474.2:c.3910A>C (p.Ile1304Leu)| NM_001040113.1:c.1934C>T (p.Ser645Leu)| NM_002474.2:c.5800A>T (p.Thr1934Ser)| NM_002474.2:c.2802G>A (p.Glu934=)| NM_002474.2:c.471C>T (p.Ile157=)| NM_001040113.1:c.2070C>T (p.His690=)| NM_002474.2:c.2648C>T (p.Ser883Leu)| NM_001040113.1:c.3672+5_3672+11delTGCTTTTinsG| NM_002474.2:c.1212G>C (p.Gly404=)| NM_001143979.1:c.948-4894G>A| NM_001143979.1:c.948-5828C>T| NM_002474.2:c.4681G>A (p.Ala1561Thr)| NM_002474.2:c.217A>C (p.Lys73Gln)| NM_001040113.1:c.5294G>A (p.Arg1765Gln)| NM_002474.2:c.3031T>C (p.Leu1011=)| NM_002474.2:c.1732A>G (p.Ile578Val)| NM_001040113.1:c.5357C>T (p.Thr1786Met)| NM_002474.2:c.1419G>A (p.Gln473=)| NM_002474.2:c.3310G>A (p.Ala1104Thr)| NM_002474.2:c.2961C>T (p.Ile987=)| NM_001040113.1:c.429G>A (p.Lys143=)| NM_002474.2:c.5529G>A (p.Ser1843=)| NM_002474.2:c.12G>A (p.Lys4=)| NM_002474.2:c.4506C>T (p.Leu1502=)| NM_002474.2:c.5516C>T (p.Ala1839Val)| NM_001040114.1:c.3787_3789delAAG (p.Lys1263del)| NM_002474.2:c.987C>T (p.Thr329=)| NM_002474.2:c.5275G>A (p.Val1759Ile)| NM_002474.2:c.3949C>A (p.Leu1317Ile)| NM_001040114.1:c.4694C>T (p.Thr1565Met)| NM_002474.2:c.387A>G (p.Lys129=)| NM_002474.2:c.291C>T (p.Asn97=)| NM_002474.2:c.135C>T (p.Phe45=)| NM_001040113.1:c.4422C>T (p.Tyr1474=)| NM_002474.2:c.4158C>T (p.Thr1386=)| NM_002474.2:c.2079C>T (p.Phe693=)| NM_002474.2:c.5566C>T (p.Leu1856=)| NM_001143979.1:c.948-6917G>A| NM_002474.2:c.3828G>A (p.Ala1276=)| NM_002474.2:c.792T>C (p.Tyr264=)| NM_002474.2:c.453G>A (p.Pro151=)| NM_002474.2:c.5517G>A (p.Ala1839=)| NM_001040113.1:c.5317-4C>T| NM_002474.2:c.4242T>G (p.Ala1414=)| NM_001040113.1:c.3988C>T (p.Leu1330=)| NM_001040113.1:c.4625G>A (p.Arg1542Gln)| NM_001143979.1:c.948-7025C>T| NM_001143979.1:c.948-6986C>T| NM_002474.2:c.3866T>C (p.Val1289Ala)| NM_002474.2:c.3291C>T (p.Ala1097=)" PMID: 22968129| PMID: 23142374| PMID: 25907466| PMID: 24921172| ClinVar: 517126| ClinVar: 369108| ClinVar: 318180| ClinVar: 318179| ClinVar: 318177| ClinVar: 318176| ClinVar: 318175| ClinVar: 318174| ClinVar: 318173| ClinVar: 318172| ClinVar: 318171| ClinVar: 318169| ClinVar: 318168| ClinVar: 318167| ClinVar: 318165| ClinVar: 318164| ClinVar: 318163| ClinVar: 318161| ClinVar: 318159| ClinVar: 318158| ClinVar: 318157| ClinVar: 318156| ClinVar: 263467| ClinVar: 222712| ClinVar: 155816| ClinVar: 318150| ClinVar: 318138| ClinVar: 318136| ClinVar: 318134| ClinVar: 318117| ClinVar: 318116| ClinVar: 318110| ClinVar: 318108| ClinVar: 318107| ClinVar: 318086| ClinVar: 318074| ClinVar: 201111| ClinVar: 318178| ClinVar: 318160| ClinVar: 263969| ClinVar: 263862| ClinVar: 201063| ClinVar: 201057| ClinVar: 318155| ClinVar: 318154| ClinVar: 318153| ClinVar: 318151| ClinVar: 318149| ClinVar: 318148| ClinVar: 318147| ClinVar: 318146| ClinVar: 318145| ClinVar: 318143| ClinVar: 318142| ClinVar: 318141| ClinVar: 318140| ClinVar: 318139| ClinVar: 318137| ClinVar: 318135| ClinVar: 318133| ClinVar: 318132| ClinVar: 318127| ClinVar: 318126| ClinVar: 318124| ClinVar: 318123| ClinVar: 318122| ClinVar: 318121| ClinVar: 318120| ClinVar: 318119| ClinVar: 318115| ClinVar: 318113| ClinVar: 318112| ClinVar: 318111| ClinVar: 318105| ClinVar: 318103| ClinVar: 318095| ClinVar: 318094| ClinVar: 318091| ClinVar: 318090| ClinVar: 318089| ClinVar: 318087| ClinVar: 318085| ClinVar: 318083| ClinVar: 318082| ClinVar: 318081| ClinVar: 318080| ClinVar: 318078| ClinVar: 318077| ClinVar: 318076| ClinVar: 318073| ClinVar: 318071| ClinVar: 318070| ClinVar: 155815| ClinVar: 318170| ClinVar: 263526| ClinVar: 201049| ClinVar: 318109| ClinVar: 318106| ClinVar: 226744| ClinVar: 201071| ClinVar: 257262| ClinVar: 138371| ClinVar: 138347| ClinVar: 138340| ClinVar: 138366| ClinVar: 138330| ClinVar: 138328| ClinVar: 138327| ClinVar: 192314| ClinVar: 36616| ClinVar: 138334| ClinVar: 36624| ClinVar: 36617| ClinVar: 36622| ClinVar: 36625| ClinVar: 36621| ClinVar: 14135| ClinVar: 318166| ClinVar: 201050| ClinVar: 201040| ClinVar: 201030| ClinVar: 263518| ClinVar: 196019| ClinVar: 318099| ClinVar: 263686| ClinVar: 252514| ClinVar: 201044| ClinVar: 318162| ClinVar: 263341| ClinVar: 220799| ClinVar: 201056| ClinVar: 201029| ClinVar: 138370| ClinVar: 318102| ClinVar: 318100| ClinVar: 263877| ClinVar: 201095| ClinVar: 161316| ClinVar: 201026| ClinVar: 201024| ClinVar: 155817| ClinVar: 138372| ClinVar: 138333| ClinVar: 138332| ClinVar: 238261| ClinVar: 197068| ClinVar: 138362| ClinVar: 138344| ClinVar: 197069| ClinVar: 180420| ClinVar: 138369| ClinVar: 201037| ClinVar: 201031| ClinVar: 180419| ClinVar: 138365| ClinVar: 138364| ClinVar: 138363| ClinVar: 138343| ClinVar: 138341| ClinVar: 138329| ClinVar: 138357| ClinVar: 138351| ClinVar: 138335| ClinVar: 138368| ClinVar: 201046| ClinVar: 138356| ClinVar: 138350| ClinVar: 138342| ClinVar: 138338| ClinVar: 180418| ClinVar: 138354| ClinVar: 138353| ClinVar: 138337| ClinVar: 201061 TAAD and patent ductus arteriosus| case report; familial aneurysm conflicting interpretations of pathogenicity Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Thoracic aortic aneurysm and dissection MYLK 4638 "p.R1480X (c.4438C>T) | p.S1759P (c.5275T>C)| c3272_3273del, p.Ser1091*| c.4459C>T, p.Arg1487| NM_053025.3:c.2390+2T>C| NM_053025.3:c.-288C>T| NM_053025.3:c.-277T>C| NM_053025.3:c.-228C>G| NM_053025.3:c.-186+10C>A| NM_053025.3:c.-185-5A>G| NM_053025.3:c.-153C>T| NM_053025.3:c.-130A>C| NM_053025.3:c.-72C>T| NM_053025.3:c.123C>A (p.Asn41Lys)| NM_053025.3:c.188A>G (p.Gln63Arg)| NM_053025.3:c.374-9T>C| NM_053025.3:c.423-8C>T| NM_053025.3:c.559C>T (p.Arg187Trp)| NM_053025.3:c.682G>A (p.Val228Met)| NM_053025.3:c.859A>G (p.Ser287Gly)| NM_053025.3:c.969G>A (p.Glu323=)| NM_053025.3:c.1297T>C (p.Phe433Leu)| NM_053025.3:c.1630C>T (p.Arg544Trp)| NM_053025.3:c.1651+7T>C| NM_053025.3:c.1952C>T (p.Pro651Leu)| NM_053025.3:c.2564C>T (p.Ala855Val)| NM_053025.3:c.2779G>A (p.Ala927Thr)| NM_053025.3:c.2781C>T (p.Ala927=)| NM_053025.3:c.2829G>T (p.Arg943Ser)| NM_053025.3:c.3024G>A (p.Val1008=)| NM_053025.3:c.3565+7C>T| NM_053025.3:c.3900G>A (p.Ala1300=)| NM_053025.3:c.4054T>C (p.Trp1352Arg)| NM_053025.3:c.4104C>T (p.Ile1368=)| NM_053025.3:c.4289-4C>T| NM_053025.3:c.4302A>G (p.Glu1434=)| NM_053025.3:c.3910C>A (p.His1304Asn)| NM_053025.3:c.2626C>A (p.Arg876Ser)| NM_053025.3:c.4790C>T (p.Thr1597Met)| NM_053026.3:c.4598A>G (p.Lys1533Arg)| NM_053025.3:c.4079G>A (p.Gly1360Asp)| NM_053025.3:c.5224A>G (p.Arg1742Gly)| NM_053025.3:c.5329C>T (p.Pro1777Ser)| NM_053025.3:c.*76_*77insAC| NM_053025.3:c.*77dupC| NM_053025.3:c.*95C>G| NM_053025.3:c.*165delA| NM_053025.3:c.*197T>A| NM_053025.3:c.*213T>A| NM_053025.3:c.*246A>G| NM_053025.3:c.*252T>C| NM_053025.3:c.*258G>T| NM_053025.3:c.*334_*335insAAATGC| NM_053025.3:c.*406G>C| NM_053025.3:c.*416dupT| NM_053025.3:c.*419C>T| NM_053025.3:c.*524C>A| NM_053025.3:c.*612C>A| NM_053025.3:c.*712G>A| NM_053025.3:c.*713C>A| NM_053025.3:c.*764_*765dupAA| NM_053025.3:c.*765dupA| NM_053025.3:c.*802C>T| NM_053025.3:c.*812C>A| NM_053025.3:c.*857_*860dupTTTG| NM_053025.3:c.*945G>A| NM_053025.3:c.*960C>T| NM_053025.3:c.*1031C>A| NM_053025.3:c.*1041G>T| NM_053025.3:c.*1135G>A| NM_053025.3:c.*1176delT| NM_053025.3:c.*1191T>C| NM_053025.3:c.*1210T>C| NM_053025.3:c.*1262_*1265delGTGT| NM_053025.3:c.*1302T>C| NM_053025.3:c.*1509_*1511dupATA| NM_053025.3:c.*1526C>A| NM_053025.3:c.*1538A>G| NM_053025.3:c.*1576G>A| NM_053025.3:c.*1630G>A| NM_053025.3:c.*1653G>A| NM_053025.3:c.*1671A>T| NM_053025.3:c.*1809A>G| NM_053025.3:c.5447G>A (p.Arg1816His)| NM_053025.3:c.-197T>C| NM_053025.3:c.-24C>T| NM_053025.3:c.2124C>T (p.Ala708=)| NM_053025.3:c.2936C>T (p.Pro979Leu)| NM_053025.3:c.4289-13delG| NM_053025.3:c.4348C>T (p.Arg1450Trp)| NM_053025.3:c.*76dupA| NM_053025.3:c.*1174_*1177dupCTTA| NM_053025.3:c.3611G>A (p.Arg1204Gln)| NM_053025.3:c.5703G>A (p.Thr1901=)| NM_053025.3:c.2589G>A (p.Glu863=)| NM_053025.3:c.4725C>T (p.Tyr1575=)| NM_053025.3:c.619G>A (p.Val207Met)| NM_053025.3:c.588+13_588+16delTCTG| NM_053025.3:c.4620-12G>A| NM_053025.3:c.3448+15G>A| NM_053027.3:c.2596G>A (p.Gly866Ser)| NM_053025.3:c.207C>T (p.Asn69=)| NM_053025.3:c.3652+11G>A| NM_053025.3:c.1651+6T>A| NM_053025.3:c.4842T>C (p.Asn1614=)| NM_053025.3:c.4317T>C (p.Asp1439=)| NM_053025.3:c.2742C>A (p.Asp914Glu)| NM_053025.3:c.2582T>C (p.Leu861Pro)| NM_053025.3:c.782T>C (p.Val261Ala)| NM_053025.3:c.62C>A (p.Pro21His)| NM_053025.3:c.3196_3198delGAA (p.Glu1066del)| NM_053025.3:c.3027G>A (p.Glu1009=)| NM_053025.3:c.2533C>T (p.Arg845Cys)| NM_053025.3:c.5275T>C (p.Ser1759Pro)| NM_053025.3:c.399G>T (p.Gln133His)| NM_053025.3:c.601C>T (p.Leu201=)| NM_053025.3:c.643A>G (p.Met215Val)| NM_053025.3:c.1213A>G (p.Met405Val)| NM_053025.3:c.2461C>T (p.Arg821Trp)| NM_053025.3:c.3610C>T (p.Arg1204Trp)| NM_053025.3:c.2776C>T (p.Arg926Cys)| NM_053025.3:c.3915C>T (p.Cys1305=)| NM_053025.3:c.4415+9A>G| NM_053025.3:c.2799G>A (p.Val933=)| NM_053025.3:c.24C>G (p.Ala8=)| NM_053025.3:c.2023G>A (p.Gly675Arg)| NM_053025.3:c.2149G>T (p.Asp717Tyr)| NM_053025.3:c.5441C>T (p.Thr1814Ile)| NM_053025.3:c.2120A>G (p.Gln707Arg)| NM_053025.3:c.2253C>T (p.Thr751=)| NM_053025.3:c.5448C>T (p.Arg1816=)| NM_053025.3:c.4336G>A (p.Glu1446Lys)| NM_053025.3:c.3749G>A (p.Arg1250His)| NM_053025.3:c.257G>A (p.Arg86Gln)| NM_053025.3:c.2919G>A (p.Pro973=)| NM_053025.3:c.256C>T (p.Arg86Trp)| NM_053025.3:c.3898G>A (p.Ala1300Thr)| NM_053025.3:c.4620-6C>T| NM_053025.3:c.3525C>T (p.Asp1175=)| NM_053025.3:c.5477C>T (p.Ala1826Val)| NM_053025.3:c.3832-6C>T| NM_053025.3:c.1804+8C>T| NM_053025.3:c.1005C>T (p.Thr335=)| NM_053025.3:c.999G>A (p.Pro333=)| NM_053025.3:c.4194C>T (p.His1398=)| NM_053025.3:c.411C>G (p.Ser137=)| NM_053025.3:c.3253A>G (p.Thr1085Ala)| NM_053025.3:c.1968G>T (p.Trp656Cys)| NM_053025.3:c.4289-3dupC| NM_053025.3:c.3558C>T (p.Thr1186=)| NM_053025.3:c.383C>T (p.Ala128Val)| NM_053025.3:c.1486C>G (p.Leu496Val)| NM_053025.3:c.1327C>T (p.Pro443Ser)| NM_053025.3:c.439C>T (p.Pro147Ser)| NM_053025.3:c.3402C>T (p.Asn1134=)" PMID: 21055718| PMID: 27586135| PMID: 25907466| ClinVar: 517131| ClinVar: 369383| ClinVar: 342918| ClinVar: 342917| ClinVar: 342915| ClinVar: 342914| ClinVar: 342913| ClinVar: 342912| ClinVar: 342911| ClinVar: 342909| ClinVar: 342908| ClinVar: 342906| ClinVar: 342905| ClinVar: 342904| ClinVar: 342901| ClinVar: 342900| ClinVar: 342899| ClinVar: 342897| ClinVar: 342896| ClinVar: 342895| ClinVar: 342894| ClinVar: 342889| ClinVar: 342887| ClinVar: 342886| ClinVar: 342885| ClinVar: 342883| ClinVar: 342882| ClinVar: 342879| ClinVar: 342877| ClinVar: 342876| ClinVar: 342874| ClinVar: 342873| ClinVar: 252773| ClinVar: 252771| ClinVar: 222740| ClinVar: 180445| ClinVar: 155820| ClinVar: 342869| ClinVar: 342868| ClinVar: 342863| ClinVar: 342862| ClinVar: 342861| ClinVar: 342860| ClinVar: 342859| ClinVar: 342858| ClinVar: 342857| ClinVar: 342856| ClinVar: 342855| ClinVar: 342854| ClinVar: 342853| ClinVar: 342852| ClinVar: 342851| ClinVar: 342850| ClinVar: 342849| ClinVar: 342848| ClinVar: 342847| ClinVar: 342846| ClinVar: 342845| ClinVar: 342844| ClinVar: 342843| ClinVar: 342842| ClinVar: 342841| ClinVar: 342840| ClinVar: 342839| ClinVar: 342838| ClinVar: 342837| ClinVar: 342836| ClinVar: 342834| ClinVar: 342833| ClinVar: 342832| ClinVar: 342831| ClinVar: 342830| ClinVar: 342829| ClinVar: 342828| ClinVar: 342827| ClinVar: 342826| ClinVar: 342825| ClinVar: 342824| ClinVar: 342823| ClinVar: 222741| ClinVar: 342916| ClinVar: 342910| ClinVar: 342892| ClinVar: 342884| ClinVar: 342875| ClinVar: 342872| ClinVar: 342864| ClinVar: 342835| ClinVar: 263940| ClinVar: 342865| ClinVar: 342888| ClinVar: 342870| ClinVar: 264468| ClinVar: 262293| ClinVar: 262284| ClinVar: 226762| ClinVar: 155819| ClinVar: 262276| ClinVar: 226765| ClinVar: 226756| ClinVar: 226771| ClinVar: 226770| ClinVar: 226759| ClinVar: 226758| ClinVar: 226774| ClinVar: 226773| ClinVar: 194904| ClinVar: 194902| ClinVar: 226038| ClinVar: 30133| ClinVar: 263911| ClinVar: 342903| ClinVar: 342902| ClinVar: 342898| ClinVar: 342890| ClinVar: 342881| ClinVar: 241756| ClinVar: 342878| ClinVar: 342871| ClinVar: 264305| ClinVar: 263976| ClinVar: 241753| ClinVar: 216969| ClinVar: 342867| ClinVar: 194568| ClinVar: 342891| ClinVar: 342866| ClinVar: 263899| ClinVar: 252772| ClinVar: 264174| ClinVar: 220800| ClinVar: 342907| ClinVar: 342880| ClinVar: 227625| ClinVar: 226763| ClinVar: 252775| ClinVar: 227624| ClinVar: 226757| ClinVar: 226753| ClinVar: 262298| ClinVar: 226767| ClinVar: 226766| ClinVar: 226761| ClinVar: 342893| ClinVar: 226768| ClinVar: 226764| ClinVar: 241759| ClinVar: 226755| ClinVar: 226754| ClinVar: 198606| ClinVar: 194903 familial aneurysm conflicting interpretations of pathogenicity "Cytoplasm. Cell projection, lamellipodium. Cleavage furrow. Cytoplasm, cytoskeleton. Note=Localized to stress fibers during interphase and to the cleavage furrow during mitosis." human Thoracic aortic aneurysm and dissection MYLK-AS1 100506826 NM_053025.3:c.5224A>G (p.Arg1742Gly)| NM_053025.3:c.5329C>T (p.Pro1777Ser)| NM_053025.3:c.*76_*77insAC| NM_053025.3:c.*77dupC| NM_053025.3:c.*95C>G| NM_053025.3:c.*165delA| NM_053025.3:c.*197T>A| NM_053025.3:c.*213T>A| NM_053025.3:c.*246A>G| NM_053025.3:c.*252T>C| NM_053025.3:c.*258G>T| NM_053025.3:c.*334_*335insAAATGC| NM_053025.3:c.*406G>C| NM_053025.3:c.*416dupT| NM_053025.3:c.*419C>T| NM_053025.3:c.*524C>A| NM_053025.3:c.*612C>A| NM_053025.3:c.*712G>A| NM_053025.3:c.*713C>A| NM_053025.3:c.*764_*765dupAA| NM_053025.3:c.*765dupA| NM_053025.3:c.*802C>T| NM_053025.3:c.*812C>A| NM_053025.3:c.*857_*860dupTTTG| NM_053025.3:c.*945G>A| NM_053025.3:c.*960C>T| NM_053025.3:c.*1031C>A| NM_053025.3:c.*1041G>T| NM_053025.3:c.*1135G>A| NM_053025.3:c.*1176delT| NM_053025.3:c.*1191T>C| NM_053025.3:c.*1210T>C| NM_053025.3:c.*1262_*1265delGTGT| NM_053025.3:c.*1302T>C| NM_053025.3:c.*1509_*1511dupATA| NM_053025.3:c.*1526C>A| NM_053025.3:c.*1538A>G| NM_053025.3:c.*1576G>A| NM_053025.3:c.*1630G>A| NM_053025.3:c.*1653G>A| NM_053025.3:c.*1671A>T| NM_053025.3:c.*1809A>G| NM_053025.3:c.5447G>A (p.Arg1816His)| NM_053025.3:c.*76dupA| NM_053025.3:c.*1174_*1177dupCTTA| NM_053025.3:c.5703G>A (p.Thr1901=)| NM_053025.3:c.5275T>C (p.Ser1759Pro)| NM_053025.3:c.5441C>T (p.Thr1814Ile)| NM_053025.3:c.5448C>T (p.Arg1816=)| NM_053025.3:c.5477C>T (p.Ala1826Val) ClinVar: 342869| ClinVar: 342868| ClinVar: 342863| ClinVar: 342862| ClinVar: 342861| ClinVar: 342860| ClinVar: 342859| ClinVar: 342858| ClinVar: 342857| ClinVar: 342856| ClinVar: 342855| ClinVar: 342854| ClinVar: 342853| ClinVar: 342852| ClinVar: 342851| ClinVar: 342850| ClinVar: 342849| ClinVar: 342848| ClinVar: 342847| ClinVar: 342846| ClinVar: 342845| ClinVar: 342844| ClinVar: 342843| ClinVar: 342842| ClinVar: 342841| ClinVar: 342840| ClinVar: 342839| ClinVar: 342838| ClinVar: 342837| ClinVar: 342836| ClinVar: 342834| ClinVar: 342833| ClinVar: 342832| ClinVar: 342831| ClinVar: 342830| ClinVar: 342829| ClinVar: 342828| ClinVar: 342827| ClinVar: 342826| ClinVar: 342825| ClinVar: 342824| ClinVar: 342823| ClinVar: 222741| ClinVar: 342864| ClinVar: 342835| ClinVar: 342865| ClinVar: 30133| ClinVar: 342867| ClinVar: 342866| ClinVar: 252775 conflicting interpretations of pathogenicity human Thoracic aortic aneurysm and dissection NDE1 54820 NM_001040114.1:c.3879+807A>G| NM_001040114.1:c.3880-173T>C| NM_001040114.1:c.3880-171dupT| NM_001040114.1:c.3880-156T>G| NM_001040114.1:c.4138-101C>A| NM_001040114.1:c.4138-80G>C| NM_002474.2:c.4663C>G (p.Leu1555Val)| NM_002474.2:c.4791+13G>A| NM_002474.2:c.4808C>T (p.Thr1603Met)| NM_002474.2:c.*37C>A| NM_002474.2:c.*641C>A| NM_002474.2:c.4578+2dupT| NM_001143979.1:c.*2090T>C| NM_001143979.1:c.*2030T>C| NM_001143979.1:c.*1981A>G| NM_001143979.1:c.*1808T>G| NM_001143979.1:c.*1784A>G| NM_001143979.1:c.*1723C>T| NM_001143979.1:c.*1663C>A| NM_001143979.1:c.*1571A>G| NM_001143979.1:c.*1389G>A| NM_001143979.1:c.*1299A>G| NM_001143979.1:c.*1220G>A| NM_001143979.1:c.*1155A>G| NM_001143979.1:c.*947G>A| NM_001143979.1:c.*943C>T| NM_001143979.1:c.*913A>C| NM_001143979.1:c.*899C>A| NM_001143979.1:c.*897_*898insC| NM_001143979.1:c.*911_*912dupCA| NM_001143979.1:c.*863C>G| NM_001143979.1:c.*593A>G| NM_001143979.1:c.*481T>A| NM_001143979.1:c.*438G>A| NM_001143979.1:c.*367T>C| NM_001143979.1:c.*344C>T| NM_001143979.1:c.*286G>A| NM_001143979.1:c.*290dupG| NM_001143979.1:c.*202G>A| NM_002474.2:c.4293C>T (p.Asp1431=)| NM_001143979.1:c.948-2611C>T| NM_001143979.1:c.948-3135C>T| NM_001143979.1:c.948-3908G>A| NM_001143979.1:c.948-4025C>T| NM_001143979.1:c.948-6953G>C| NM_001143979.1:c.948-6968G>A| NM_001143979.1:c.948-9257C>T| NM_001143979.1:c.948-9268G>C| NM_001143979.1:c.948-9270T>C| NM_002474.2:c.5886C>T (p.Asp1962=)| NM_001143979.1:c.947+7069_947+7073delTTTTT| NM_001143979.1:c.947+6903A>G| NM_001143979.1:c.947+6742G>C| NM_001143979.1:c.947+6711G>C| NM_001143979.1:c.947+6655_947+6656delGT| NM_001143979.1:c.947+6612A>G| NM_001143979.1:c.947+6587C>T| NM_001143979.1:c.947+6554T>C| NM_001143979.1:c.947+6469C>A| NM_001143979.1:c.947+6367C>T| NM_001143979.1:c.947+6327G>A| NM_001143979.1:c.948-3351T>C| NM_002474.2:c.4809G>A (p.Thr1603=)| NM_002474.2:c.5172-5C>T| NM_002474.2:c.4016G>A (p.Arg1339His)| NM_001040113.1:c.5807+11C>T| NM_002474.2:c.4579-13G>A| NM_002474.2:c.4116+12G>A| NM_022844.2:c.*146C>G| NM_001040113.1:c.3721G>A (p.Ala1241Thr)| NM_001040113.1:c.4882A>C (p.Lys1628Gln)| NM_001040113.1:c.5193-14C>T| NM_001040113.1:c.4791G>A (p.Lys1597=)| NM_022844.2:c.5787-11_5787-8delCTCT| NM_001143979.1:c.948-5858G>A| NM_002474.2:c.3910A>C (p.Ile1304Leu)| NM_002474.2:c.5800A>T (p.Thr1934Ser)| NM_001143979.1:c.948-4894G>A| NM_001143979.1:c.948-5828C>T| NM_002474.2:c.4681G>A (p.Ala1561Thr)| NM_001040113.1:c.5294G>A (p.Arg1765Gln)| NM_001040113.1:c.5357C>T (p.Thr1786Met)| NM_002474.2:c.5529G>A (p.Ser1843=)| NM_002474.2:c.4506C>T (p.Leu1502=)| NM_002474.2:c.5516C>T (p.Ala1839Val)| NM_002474.2:c.5275G>A (p.Val1759Ile)| NM_002474.2:c.3949C>A (p.Leu1317Ile)| NM_001040114.1:c.4694C>T (p.Thr1565Met)| NM_001040113.1:c.4422C>T (p.Tyr1474=)| NM_002474.2:c.4158C>T (p.Thr1386=)| NM_002474.2:c.5566C>T (p.Leu1856=)| NM_001143979.1:c.948-6917G>A| NM_002474.2:c.5517G>A (p.Ala1839=)| NM_001040113.1:c.5317-4C>T| NM_002474.2:c.4242T>G (p.Ala1414=)| NM_001040113.1:c.3988C>T (p.Leu1330=)| NM_001040113.1:c.4625G>A (p.Arg1542Gln)| NM_001143979.1:c.948-7025C>T| NM_001143979.1:c.948-6986C>T| NM_002474.2:c.3866T>C (p.Val1289Ala) ClinVar: 318150| ClinVar: 318138| ClinVar: 318136| ClinVar: 318134| ClinVar: 318117| ClinVar: 318116| ClinVar: 318110| ClinVar: 318108| ClinVar: 318107| ClinVar: 318086| ClinVar: 318074| ClinVar: 201111| ClinVar: 318155| ClinVar: 318154| ClinVar: 318153| ClinVar: 318151| ClinVar: 318149| ClinVar: 318148| ClinVar: 318147| ClinVar: 318146| ClinVar: 318145| ClinVar: 318143| ClinVar: 318142| ClinVar: 318141| ClinVar: 318140| ClinVar: 318139| ClinVar: 318137| ClinVar: 318135| ClinVar: 318133| ClinVar: 318132| ClinVar: 318127| ClinVar: 318126| ClinVar: 318124| ClinVar: 318123| ClinVar: 318122| ClinVar: 318121| ClinVar: 318120| ClinVar: 318119| ClinVar: 318115| ClinVar: 318113| ClinVar: 318112| ClinVar: 318111| ClinVar: 318105| ClinVar: 318103| ClinVar: 318095| ClinVar: 318094| ClinVar: 318091| ClinVar: 318090| ClinVar: 318089| ClinVar: 318087| ClinVar: 318085| ClinVar: 318083| ClinVar: 318082| ClinVar: 318081| ClinVar: 318080| ClinVar: 318078| ClinVar: 318077| ClinVar: 318076| ClinVar: 318073| ClinVar: 318071| ClinVar: 318070| ClinVar: 318109| ClinVar: 318106| ClinVar: 226744| ClinVar: 201071| ClinVar: 257262| ClinVar: 138347| ClinVar: 138340| ClinVar: 192314| ClinVar: 138334| ClinVar: 36622| ClinVar: 36625| ClinVar: 36621| ClinVar: 201040| ClinVar: 318099| ClinVar: 263686| ClinVar: 201044| ClinVar: 318102| ClinVar: 318100| ClinVar: 263877| ClinVar: 161316| ClinVar: 155817| ClinVar: 197068| ClinVar: 138344| ClinVar: 197069| ClinVar: 201037| ClinVar: 201031| ClinVar: 180419| ClinVar: 138343| ClinVar: 138341| ClinVar: 138357| ClinVar: 138351| ClinVar: 138356| ClinVar: 138350| ClinVar: 138342| ClinVar: 138338| ClinVar: 180418| ClinVar: 138354| ClinVar: 138353| ClinVar: 138337 conflicting interpretations of pathogenicity "Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Note=Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis." human Thoracic aortic aneurysm and dissection NOS3 4846 aneurysm tissue: increase in RNA level PMID: 27283108 "Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity." human Thoracic aortic aneurysm and dissection NOTCH1 4851 "c.157G>A, p.Val53Met| c.3706C>T, p.Pro1236| c.4032G>A, p.Thr1344Thr| aortic tissue: increase in protein level| increase in RNA level| NM_017617.4:c.6422C>T (p.Ser2141Leu)| NM_017617.4:c.5014C>T (p.Arg1672Cys)| NM_017617.4:c.2021T>C (p.Met674Thr)| NM_017617.4:c.1342C>T (p.Arg448Ter)| NM_017617.4:c.4971C>G (p.Ser1657Arg)| NM_017617.4:c.7400C>T (p.Ser2467Leu)| NM_017617.4:c.2812C>T (p.Arg938Trp)| NM_017617.4:c.2734C>T (p.Arg912Trp)| NM_017617.4:c.3901+3G>A" PMID: 25907466| PMID: 23300792| ClinVar: 222759| ClinVar: 222757| ClinVar: 155826| ClinVar: 222756| ClinVar: 180459| ClinVar: 134947| ClinVar: 155827| ClinVar: 134921| ClinVar: 155828 conflicting interpretations of pathogenicity Cell membrane ; Single-pass type I membrane protein. Notch 1 intracellular domain: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Nuclear location may require MEGF10.. human Thoracic aortic aneurysm and dissection PRKG1 5592 "rs397515330, NM_006258.3:c.575G-A, NP_006249.1:p.R192Q| NM_006258.3:c.1466A-T, NP_006249.1:p.G681A| rs149710600, NM_000934.3:c.1301G-A, NP_006249.1:p.Y489F| c.530G>A:p.Arg177Gln| c.530G>A, p.Arg177Gln| NM_006258.3:c.1423A>G (p.Thr475Ala)| NM_001098512.2:c.1031A>G (p.Lys344Arg)| NM_001098512.2:c.39G>A (p.Met13Ile)" PMID: 23910461| PMID: 27442293| ClinVar: 222773| ClinVar: 222772| ClinVar: 180475 uncertain significance| likely benign Cytoplasm. Note=Colocalized with TRPC7 in the plasma membrane.. human Thoracic aortic aneurysm and dissection S100A12 6283 aortic tissue: increase in protein level| increase in RNA level PMID: 22818064 "Secreted. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane ; Peripheral membrane protein. Note=Predominantly localized in the cytoplasm. Upon elevation of the intracellular calcium level, translocated from the cytoplasm to the cytoskeleton and the cell membrane. Upon neutrophil activation is secreted via a microtubule-mediated, alternative pathway." human Thoracic aortic aneurysm and dissection SLC2A10 81031 "NM_005902.3:c.836G-A, NP_110404.1:p.A283G| c.727C>A, p.Gln243Lys| NM_030777.3:c.462C>G (p.Asn154Lys)| NM_030777.3:c.648C>G (p.Tyr216Ter)| NM_030777.3:c.394C>T (p.Arg132Trp)" PMID: 23142374| PMID: 25907466| ClinVar: 222823| ClinVar: 467819| ClinVar: 4590 conflicting interpretations of pathogenicity "Endomembrane system ; Multi-pass membrane protein. Cytoplasm, perinuclear region." human Thoracic aortic aneurysm and dissection SMAD3 4088 "NM_005902.3:c.653delA| NM_005902.3:c.836G-A, NP_005893.1:p.T330A| rs387906852, NM_005902.3:c.836G-A, NP_005893.1:p.R279K| rs387906853, NM_003238.3:c.619G-C, NP_005893.1:p.E239K| rs387906854, NM_003238.3:c.687C-A, NP_005893.1:p.A112V| c.1259G>A, p.Arg420His| c.652delA, p. N218fs| c.836G>A, p.R279K| c.715G>A, p.E239K| c.235C>T, p.A112V| NC_000015.10:g.(?_67190393)_(67190556_?)del| NM_005902.3:c.803G>A (p.Arg268His)| NM_005902.3:c.414G>A (p.Val138=)| NM_005902.3:c.801_802delGCinsTT (p.Glu267_Arg268delinsAspCys)| NM_005902.3:c.787C>T (p.Pro263Ser)| NM_005902.3:c.74G>T (p.Gly25Val)| NM_005902.3:c.681C>T (p.Cys227=)| NM_005902.3:c.532+9G>A| NM_005902.3:c.468C>T (p.Tyr156=)| NM_005902.3:c.34G>T (p.Val12Leu)| NM_005902.3:c.243G>T (p.Lys81Asn)| NM_005902.3:c.194T>C (p.Ile65Thr)| NM_005902.3:c.246dup (p.Leu83Alafs)| NM_005902.3:c.138delG (p.Gln47Serfs)| NM_005902.3:c.1278G>C (p.Ter426Tyr)| NM_005902.3:c.1190A>G (p.Glu397Gly)| NM_005902.3:c.1128C>T (p.Phe376=)| NC_000015.10:g.(?_67181221)_(67190556_?)dup| NM_005902.3:c.450C>T (p.Phe150=)| NM_005902.3:c.309A>T (p.Leu103=)| NM_005902.3:c.427_431delCACAC (p.His143Argfs)| NM_005902.3:c.1269T>A (p.Ser423Arg)| NM_005902.3:c.607+1G>T| NM_005902.3:c.903_904dupGG (p.Glu302Glyfs)| NM_005902.3:c.246_247dupGC (p.Leu83Argfs)| NM_005902.3:c.190T>C (p.Cys64Arg)| NM_005902.3:c.238C>T (p.Arg80Trp)| NM_005902.3:c.907G>A (p.Val303Ile)| NM_005902.3:c.1118G>A (p.Arg373His)| NM_005902.3:c.1190A>T (p.Glu397Val)| NM_005902.3:c.781A>G (p.Thr261Ala)| NM_005902.3:c.968G>A (p.Arg323His)| NM_005902.3:c.912C>T (p.Phe304=)| NM_005902.3:c.603C>T (p.Asp201=)| NM_005902.3:c.532+8C>T| NM_005902.3:c.326G>A (p.Cys109Tyr)| NM_005902.3:c.871+2T>C| NM_005902.3:c.787C>G (p.Pro263Ala)| NM_005902.3:c.872-4G>A| NM_005902.3:c.268C>T (p.Arg90Cys)| NM_005902.3:c.687G>A (p.Pro229=)| NM_005902.3:c.714C>T (p.Tyr238=)| NM_005902.3:c.797C>A (p.Ser266Ter)| NM_005902.3:c.607+7C>T| NM_005902.3:c.723C>T (p.Asn241=)| NM_005902.3:c.394A>G (p.Thr132Ala)| NM_005902.3:c.377A>G (p.His126Arg)| NM_005902.3:c.278G>A (p.Arg93Gln)| NM_005902.3:c.110_121delGCCTGGTCAAGA (p.Ser37_Lys40del)| NM_005902.3:c.990dupC (p.Val331Argfs)| NM_005902.3:c.277C>T (p.Arg93Ter)| NM_005902.3:c.1228G>T (p.Val410Phe)| NM_005902.3:c.1117C>T (p.Arg373Cys)| NM_005902.3:c.682G>A (p.Glu228Lys)| NM_005902.3:c.1129G>A (p.Val377Ile)| NM_005902.3:c.1092C>T (p.Tyr364=)| NM_005902.3:c.483C>T (p.Pro161=)| NM_005902.3:c.783C>T (p.Thr261=)| NM_005902.3:c.316A>G (p.Met106Val)| NM_005902.3:c.1102C>T (p.Arg368Ter)| NM_005902.3:c.*4658T>C| NM_005902.3:c.*4553C>T| NM_005902.3:c.*4553C>A| NM_005902.3:c.*4442C>T| NM_005902.3:c.*4192G>A| NM_005902.3:c.*3735C>T| NM_005902.3:c.*3716C>T| NM_005902.3:c.*3658G>A| NM_005902.3:c.*3509A>G| NM_005902.3:c.*3171delT| NM_005902.3:c.*3171dupT| NM_005902.3:c.*3145T>C| NM_005902.3:c.*3144G>T| NM_005902.3:c.*3126C>T| NM_005902.3:c.*3117G>T| NM_005902.3:c.*3037C>G| NM_005902.3:c.*2995G>A| NM_005902.3:c.*2963A>C| NM_005902.3:c.*2891C>A| NM_005902.3:c.*2793C>T| NM_005902.3:c.*2596G>T| NM_005902.3:c.*2580C>A| NM_005902.3:c.*2573G>T| NM_005902.3:c.*2573G>A| NM_005902.3:c.*2547C>T| NM_005902.3:c.*2476A>C| NM_005902.3:c.*2453C>A| NM_005902.3:c.*2444A>G| NM_005902.3:c.*2403C>T| NM_005902.3:c.*2303G>C| NM_005902.3:c.*2291C>A| NM_005902.3:c.*2285G>A| NM_005902.3:c.*2282C>T| NM_005902.3:c.*2251C>A| NM_005902.3:c.*2245C>A| NM_005902.3:c.*2242A>G| NM_005902.3:c.*2046T>C| NM_005902.3:c.*2038G>T| NM_005902.3:c.*2028T>C| NM_005902.3:c.*2026T>C| NM_005902.3:c.*2013T>C| NM_005902.3:c.*1880C>T| NM_005902.3:c.*1853C>A| NM_005902.3:c.*1831G>T| NM_005902.3:c.*1820G>T| NM_005902.3:c.*1819C>T| NM_005902.3:c.*1805T>C| NM_005902.3:c.*1800_*1803delAGAC| NM_005902.3:c.*1790G>A| NM_005902.3:c.*1784G>T| NM_005902.3:c.*1777_*1778insCCT| NM_005902.3:c.*1767G>C| NM_005902.3:c.*1749G>T| NM_005902.3:c.*1695G>T| NM_005902.3:c.*1644T>G| NM_005902.3:c.*1641T>G| NM_005902.3:c.*1614C>A| NM_005902.3:c.*1597G>C| NM_005902.3:c.*1548G>T| NM_005902.3:c.*1515C>A| NM_005902.3:c.*1493C>A| NM_005902.3:c.*1443C>A| NM_005902.3:c.*1423C>T| NM_005902.3:c.*1355C>G| NM_005902.3:c.*1326A>G| NM_005902.3:c.*1325T>C| NM_005902.3:c.*1315C>T| NM_005902.3:c.*1255A>G| NM_005902.3:c.*1245G>A| NM_005902.3:c.*1217A>G| NM_005902.3:c.*1181C>T| NM_005902.3:c.*1165A>G| NM_005902.3:c.*1105G>A| NM_005902.3:c.*981C>A| NM_005902.3:c.*925G>A| NM_005902.3:c.*843G>A| NM_005902.3:c.*798G>A| NM_005902.3:c.*789A>G| NM_005902.3:c.*678C>A| NM_005902.3:c.*665T>A| NM_005902.3:c.*656C>A| NM_005902.3:c.*654A>G| NM_005902.3:c.*632C>A| NM_005902.3:c.*626C>T| NM_005902.3:c.*609A>G| NM_005902.3:c.*579delG| NM_005902.3:c.*573G>T| NM_005902.3:c.*552G>T| NM_005902.3:c.*552G>C| NM_005902.3:c.*495C>A| NM_005902.3:c.*419G>T| NM_005902.3:c.*402C>T| NM_005902.3:c.*318G>A| NM_005902.3:c.*304C>T| NM_005902.3:c.*301C>T| NM_005902.3:c.*292G>T| NM_005902.3:c.*291G>A| NM_005902.3:c.*250C>A| NM_005902.3:c.*195G>T| NM_005902.3:c.*51G>C| NM_005902.3:c.1010-12T>C| NM_005902.3:c.922C>T (p.Leu308Phe)| NM_005902.3:c.607+9T>A| NM_005902.3:c.341A>G (p.Asn114Ser)| NM_005902.3:c.-100C>T| NM_005902.3:c.-115C>T| NM_005902.3:c.-164A>C| NM_005902.3:c.-168C>A| NM_005902.3:c.-217C>T| NM_005902.3:c.-240G>T| NM_005902.3:c.-244G>A| NM_005902.3:c.-265T>G| NM_005902.3:c.-280C>A| NM_005902.3:c.364G>A (p.Val122Met)| NM_005902.3:c.*2229A>G| NM_005902.3:c.*2227G>A| NM_005902.3:c.-23C>T| NM_005902.3:c.-28C>T| NM_005902.3:c.1125C>T (p.Ser375=)| NM_005902.3:c.457C>T (p.Leu153=)| NM_005902.3:c.207-10G>A| NM_005902.3:c.1102C>A (p.Arg368=)| NM_005902.3:c.-15G>A| NM_005902.3:c.885G>A (p.Arg295=)| NM_005902.3:c.984G>A (p.Pro328=)| NM_005902.3:c.66G>A (p.Glu22=)| NM_005902.3:c.870C>T (p.Ile290=)| NM_005902.3:c.309A>G (p.Leu103=)| NM_005902.3:c.508A>G (p.Ile170Val)" PMID: 21778426| PMID: 23585475| PMID: 25907466| ClinVar: 477531| ClinVar: 213766| ClinVar: 263331| ClinVar: 477580| ClinVar: 477579| ClinVar: 477578| ClinVar: 477577| ClinVar: 477576| ClinVar: 477575| ClinVar: 477574| ClinVar: 477573| ClinVar: 477572| ClinVar: 477571| ClinVar: 477570| ClinVar: 477569| ClinVar: 477568| ClinVar: 477567| ClinVar: 477530| ClinVar: 413481| ClinVar: 413480| ClinVar: 405569| ClinVar: 405568| ClinVar: 405567| ClinVar: 405566| ClinVar: 405565| ClinVar: 405564| ClinVar: 405563| ClinVar: 405562| ClinVar: 405561| ClinVar: 405560| ClinVar: 405559| ClinVar: 405558| ClinVar: 240272| ClinVar: 240270| ClinVar: 240269| ClinVar: 240268| ClinVar: 213795| ClinVar: 213764| ClinVar: 444346| ClinVar: 426202| ClinVar: 413483| ClinVar: 413482| ClinVar: 405537| ClinVar: 381986| ClinVar: 264410| ClinVar: 213803| ClinVar: 213802| ClinVar: 213800| ClinVar: 213788| ClinVar: 213787| ClinVar: 213781| ClinVar: 213777| ClinVar: 213774| ClinVar: 213759| ClinVar: 180526| ClinVar: 283554| ClinVar: 387889| ClinVar: 240271| ClinVar: 213801| ClinVar: 420088| ClinVar: 369097| ClinVar: 316965| ClinVar: 316964| ClinVar: 316963| ClinVar: 316962| ClinVar: 316961| ClinVar: 316960| ClinVar: 316959| ClinVar: 316958| ClinVar: 316957| ClinVar: 316956| ClinVar: 316955| ClinVar: 316954| ClinVar: 316953| ClinVar: 316952| ClinVar: 316951| ClinVar: 316950| ClinVar: 316949| ClinVar: 316948| ClinVar: 316947| ClinVar: 316946| ClinVar: 316945| ClinVar: 316944| ClinVar: 316943| ClinVar: 316942| ClinVar: 316941| ClinVar: 316940| ClinVar: 316939| ClinVar: 316938| ClinVar: 316937| ClinVar: 316936| ClinVar: 316935| ClinVar: 316934| ClinVar: 316933| ClinVar: 316932| ClinVar: 316931| ClinVar: 316928| ClinVar: 316927| ClinVar: 316926| ClinVar: 316925| ClinVar: 316924| ClinVar: 316923| ClinVar: 316922| ClinVar: 316921| ClinVar: 316920| ClinVar: 316919| ClinVar: 316918| ClinVar: 316917| ClinVar: 316916| ClinVar: 316915| ClinVar: 316914| ClinVar: 316913| ClinVar: 316912| ClinVar: 316911| ClinVar: 316910| ClinVar: 316909| ClinVar: 316908| ClinVar: 316907| ClinVar: 316906| ClinVar: 316905| ClinVar: 316904| ClinVar: 316903| ClinVar: 316902| ClinVar: 316901| ClinVar: 316900| ClinVar: 316899| ClinVar: 316898| ClinVar: 316897| ClinVar: 316896| ClinVar: 316895| ClinVar: 316894| ClinVar: 316893| ClinVar: 316892| ClinVar: 316891| ClinVar: 316890| ClinVar: 316889| ClinVar: 316888| ClinVar: 316887| ClinVar: 316886| ClinVar: 316885| ClinVar: 316884| ClinVar: 316883| ClinVar: 316882| ClinVar: 316881| ClinVar: 316880| ClinVar: 316879| ClinVar: 316878| ClinVar: 316877| ClinVar: 316876| ClinVar: 316875| ClinVar: 316874| ClinVar: 316873| ClinVar: 316872| ClinVar: 316871| ClinVar: 316870| ClinVar: 316869| ClinVar: 316868| ClinVar: 316867| ClinVar: 316866| ClinVar: 316865| ClinVar: 316863| ClinVar: 316862| ClinVar: 316861| ClinVar: 316860| ClinVar: 316859| ClinVar: 316858| ClinVar: 316857| ClinVar: 316856| ClinVar: 316855| ClinVar: 316854| ClinVar: 316853| ClinVar: 316852| ClinVar: 316851| ClinVar: 155836| ClinVar: 316930| ClinVar: 316929| ClinVar: 139215| ClinVar: 139214| ClinVar: 316864| ClinVar: 213758| ClinVar: 284209| ClinVar: 264036| ClinVar: 139216| ClinVar: 198533| ClinVar: 240273| ClinVar: 213757| ClinVar: 139213| ClinVar: 139217| ClinVar: 139212 familial TAAD with IA+AAA conflicting interpretations of pathogenicity "Cytoplasm. Nucleus. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).." human Thoracic aortic aneurysm and dissection SMAD4 4089 c. 812G>A| c.1245_1248delCAGA| c.1340_1367dup28 PMID: 28716708| PMID: 23239472 case report Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236).. human Thoracic aortic aneurysm and dissection SRFBP1 153443 NM_002317.6:c.893T>G (p.Met298Arg) ClinVar: 228806 pathogenic/likely pathogenic "Cytoplasm, perinuclear region." human Thoracic aortic aneurysm and dissection TGFB2 7042 "NM_003238.3:c.1040delC| NM_003238.3:c.294_308delCTACGCCAAGGAGGT|rs398122883| NM_003238.3:c.1022_1026delACAAT|rs398122884| NM_003238.3:c.873_888dupTGAGTCACAACAGACC| NM_003238.3:c.1081dupA| rs387907278, NM_004612.2:c.1460G-A, NP_003229.1:p.P338H| NM_004612.2:c.1460G-C, NP_003229.1:p.R131*| NM_003238.3:c.619G-C, NP_003229.1:p.R299Q| NM_003238.3:c.687C-A, NP_003229.1:p.R299W| NM_004612.2:c.1433A-G, NP_003229.1:p.R302C| NM_004612.2:c.599C-T, NP_003229.1:p.R320C| NM_004612.2:c.214A-T, NP_003229.1:p.E102*| NM_004612.2:c.1460G-C, NP_003229.1:p.Y99*| rs398122885, NM_003238.3:c.687C-A, NP_003229.1:p.C229*| c.995del, p.Leu332TrpfsTer27| c.C1042T, p.R348C| c.475C > T, p.Arg159X| c.979C > T, p.Arg327Trp| c.980G > A, p.Arg327Gln| c.1125delT, p.Gly376GlufsX17| p.Tyr341Cysfs*25| p.Cys229*| NM_001135599.3:c.1321T>A (p.Cys441Ser)| NM_001135599.3:c.728-5T>C| NM_001135599.2:c.703G>C (p.Val235Leu)" PMID: 23102774| PMID: 22772368| PMID: 22772371| PMID: 24193348| PMID: 25046559| PMID: 27440102| ClinVar: 222833| ClinVar: 155838| ClinVar: 155837 case report| case report; familial aneurysm conflicting interpretations of pathogenicity Secreted. human Thoracic aortic aneurysm and dissection TGFB3 7043 "NM_004612.2:c.1433A-G, NP_003230.1:p.R143*" PMID: 26188975 Secreted. human Thoracic aortic aneurysm and dissection TGFBR1 7046 "NM_004612.2:c.203A-G, NP_004603.1:p.N68S| NM_003242.5:c.1582C-T, NP_004603.1:p.G188V| c.1433A>G, p.Asn478Ser| rs111426349| NM_004612.3:c.214A>T (p.Ile72Leu)| NM_004612.3:c.974-2A>G| NM_004612.3:c.1255+1G>A| NM_004612.2:c.76_78delCGC| NM_004612.2:c.76_78dupCG| NM_004612.3:c.222A>C (p.Glu74Asp)| NM_004612.3:c.400G>A (p.Val134Met)| NM_004612.3:c.99G>A (p.Ala33=)| NM_004612.3:c.89G>T (p.Gly30Val)| NM_004612.3:c.889G>A (p.Val297Ile)| NM_004612.3:c.848A>G (p.His283Arg)| NM_004612.3:c.781G>T (p.Gly261Ter)| NM_004612.3:c.767A>G (p.His256Arg)| NM_004612.2:c.752_806-1129del| NM_004612.3:c.733G>T (p.Glu245Ter)| NM_004612.3:c.704C>T (p.Ser235Phe)| NM_004612.3:c.582A>T (p.Pro194=)| NM_004612.3:c.46G>A (p.Val16Met)| NM_004612.3:c.1447C>T (p.Leu483Phe)| NM_004612.3:c.1415G>A (p.Arg472Lys)| NM_004612.3:c.1301C>T (p.Ser434Phe)| NM_004612.3:c.1135A>G (p.Met379Val)| NM_004612.3:c.1121G>A (p.Gly374Glu)| NM_004612.3:c.1104T>G (p.Ala368=)| NM_004612.3:c.700T>C (p.Phe234Leu)| NM_004612.3:c.820A>C (p.Thr274Pro)| NM_004612.3:c.944A>G (p.His315Arg)| NM_004612.3:c.500A>C (p.Asp167Ala)| NM_004612.3:c.796G>A (p.Asp266Asn)| NM_004612.3:c.679G>A (p.Glu227Lys)| NM_004612.3:c.469C>T (p.Arg157Ter)| NM_004612.3:c.1125A>G (p.Thr375=)| NM_004612.3:c.1278G>T (p.Leu426=)| NM_004612.3:c.810T>C (p.Asn270=)| NM_004612.3:c.70_78dupGCGGCGGCG (p.Ala26_Leu27insAlaAlaAla)| NM_004612.3:c.611C>T (p.Thr204Ile)| NM_004612.3:c.368C>T (p.Pro123Leu)| NM_004612.3:c.977A>G (p.Lys326Arg)| NM_004612.3:c.76_78dup (p.Ala26_Leu27insAla)| NM_004612.3:c.1240C>T (p.Arg414Ter)| NM_004612.3:c.49C>T (p.Leu17=)| NM_004612.3:c.935G>A (p.Gly312Asp)| NM_004612.3:c.192A>G (p.Lys64=)| NM_004612.3:c.1497A>G (p.Glu499=)| NM_004612.3:c.207C>T (p.Ser69=)| NM_004612.3:c.343+3A>G| NM_004612.3:c.76_78delGCG (p.Ala26del)| NM_004612.3:c.1216T>C (p.Leu406=)| NM_004612.3:c.1152C>T (p.Leu384=)| NM_004612.3:c.*4809A>T| NM_004612.3:c.*4793A>G| NM_004612.3:c.*4804dupT| NM_004612.3:c.*4728G>A| NM_004612.3:c.*4623G>C| NM_004612.3:c.*4578T>G| NM_004612.3:c.*4565T>C| NM_004612.3:c.*4499G>A| NM_004612.3:c.*4493G>A| NM_004612.3:c.*4489T>C| NM_004612.3:c.*4467C>A| NM_004612.3:c.*4356A>G| NM_004612.3:c.*4300C>T| NM_004612.3:c.*4202A>G| NM_004612.3:c.*4147G>A| NM_004612.3:c.*4088G>T| NM_004612.3:c.*4055G>T| NM_004612.3:c.*3881G>T| NM_004612.3:c.*3830T>C| NM_004612.3:c.*3798G>A| NM_004612.3:c.*3790C>T| NM_004612.3:c.*3716T>C| NM_004612.3:c.*3704A>G| NM_004612.3:c.*3567G>A| NM_004612.3:c.*3482C>G| NM_004612.3:c.*3432G>T| NM_004612.3:c.*3430delA| NM_004612.3:c.*3382T>G| NM_004612.3:c.*3317C>G| NM_004612.3:c.*3314A>G| NM_004612.3:c.*3286G>C| NM_004612.3:c.*3262C>T| NM_004612.3:c.*3261T>C| NM_004612.3:c.*3225G>A| NM_004612.3:c.*3192T>C| NM_004612.3:c.*3056C>A| NM_004612.3:c.*2980G>T| NM_004612.3:c.*2880C>A| NM_004612.3:c.*2833G>A| NM_004612.3:c.*2800G>A| NM_004612.3:c.*2799C>T| NM_004612.3:c.*2791G>A| NM_004612.3:c.*2768T>A| NM_004612.3:c.*2713G>T| NM_004612.3:c.*2703G>A| NM_004612.3:c.*2685T>G| NM_004612.3:c.*2637_*2639delTCT| NM_004612.3:c.*2547A>G| NM_004612.3:c.*2410C>T| NM_004612.3:c.*2279T>C| NM_004612.3:c.*2179delA| NM_004612.3:c.*2106G>T| NM_004612.3:c.*2112_*2114delGTT| NM_004612.3:c.*2104_*2105insGT| NM_004612.3:c.*2103_*2104insG| NM_004612.3:c.*2103T>G| NM_004612.3:c.*2101_*2102insGT| NM_004612.3:c.*2100T>G| NM_004612.3:c.*2095T>G| NM_004612.3:c.*2092G>T| NM_004612.3:c.*2105dupT| NM_004612.3:c.*2086T>G| NM_004612.3:c.*2081G>T| NM_004612.3:c.*2005T>G| NM_004612.3:c.*1959G>T| NM_004612.3:c.*1924G>T| NM_004612.3:c.*1804A>G| NM_004612.3:c.*1787T>C| NM_004612.3:c.*1772A>C| NM_004612.3:c.*1710G>A| NM_004612.3:c.*1704G>T| NM_004612.3:c.*1687A>G| NM_004612.3:c.*1659T>C| NM_004612.3:c.*1515G>A| NM_004612.3:c.*1431G>T| NM_004612.3:c.*1428G>C| NM_004612.3:c.*1368C>A| NM_004612.3:c.*1269T>G| NM_004612.3:c.*1250G>T| NM_004612.3:c.*1223A>G| NM_004612.3:c.*1183G>A| NM_004612.3:c.*789G>A| NM_004612.3:c.*756C>A| NM_004612.3:c.*709C>T| NM_004612.3:c.*566T>C| NM_004612.3:c.*512_*516delATCTT| NM_004612.3:c.*360A>G| NM_004612.3:c.*311G>A| NM_004612.3:c.*309C>T| NM_004612.3:c.*69A>G| NM_004612.3:c.1443T>A (p.Ala481=)| NM_004612.3:c.828C>G (p.Leu276=)| NM_004612.3:c.666A>G (p.Gly222=)| NM_004612.3:c.490C>T (p.Pro164Ser)| NM_004612.3:c.97+23_97+26dupGGCG| NM_004612.3:c.-43C>A| NM_004612.3:c.*884A>G| NM_004612.3:c.*2645A>C| NM_004612.3:c.479A>G (p.Asn160Ser)| NM_004612.3:c.-13T>C| NM_004612.3:c.575-9dupT| NM_004612.3:c.1460G>A (p.Arg487Gln)| NM_004612.3:c.1433A>G (p.Asn478Ser)| NM_004612.3:c.1032T>C (p.Asn344=)| NM_004612.3:c.457G>A (p.Val153Ile)| NM_004612.3:c.415A>G (p.Ile139Val)| NM_004612.3:c.528G>A (p.Thr176=)| NM_004612.3:c.722C>T (p.Ser241Leu)| NM_004612.3:c.1125A>C (p.Thr375=)| NM_001130916.2:c.70_78delGCGGCGGCG (p.Ala24_Ala26del)" PMID: 24793577| PMID: 26188975| PMID: 25907466| PMID: 25110237| ClinVar: 178136| ClinVar: 517136| ClinVar: 517121| ClinVar: 263659| ClinVar: 263574| ClinVar: 222836| ClinVar: 180538| ClinVar: 477566| ClinVar: 477565| ClinVar: 477564| ClinVar: 477563| ClinVar: 477562| ClinVar: 477561| ClinVar: 477560| ClinVar: 477559| ClinVar: 477558| ClinVar: 477557| ClinVar: 477556| ClinVar: 477555| ClinVar: 477554| ClinVar: 477553| ClinVar: 477552| ClinVar: 477551| ClinVar: 415027| ClinVar: 408572| ClinVar: 408571| ClinVar: 408569| ClinVar: 408568| ClinVar: 408567| ClinVar: 408566| ClinVar: 408560| ClinVar: 239960| ClinVar: 415029| ClinVar: 415028| ClinVar: 408570| ClinVar: 264166| ClinVar: 239961| ClinVar: 213902| ClinVar: 213864| ClinVar: 29918| ClinVar: 239962| ClinVar: 222837| ClinVar: 213853| ClinVar: 259452| ClinVar: 213865| ClinVar: 213854| ClinVar: 213863| ClinVar: 45095| ClinVar: 45094| ClinVar: 364194| ClinVar: 364193| ClinVar: 364192| ClinVar: 364191| ClinVar: 364190| ClinVar: 364189| ClinVar: 364188| ClinVar: 364187| ClinVar: 364186| ClinVar: 364185| ClinVar: 364184| ClinVar: 364183| ClinVar: 364182| ClinVar: 364181| ClinVar: 364180| ClinVar: 364179| ClinVar: 364178| ClinVar: 364177| ClinVar: 364176| ClinVar: 364175| ClinVar: 364174| ClinVar: 364173| ClinVar: 364172| ClinVar: 364171| ClinVar: 364170| ClinVar: 364169| ClinVar: 364168| ClinVar: 364167| ClinVar: 364166| ClinVar: 364165| ClinVar: 364164| ClinVar: 364163| ClinVar: 364162| ClinVar: 364161| ClinVar: 364160| ClinVar: 364159| ClinVar: 364158| ClinVar: 364157| ClinVar: 364156| ClinVar: 364155| ClinVar: 364154| ClinVar: 364153| ClinVar: 364152| ClinVar: 364151| ClinVar: 364150| ClinVar: 364149| ClinVar: 364147| ClinVar: 364146| ClinVar: 364145| ClinVar: 364144| ClinVar: 364143| ClinVar: 364142| ClinVar: 364141| ClinVar: 364140| ClinVar: 364139| ClinVar: 364138| ClinVar: 364137| ClinVar: 364136| ClinVar: 364135| ClinVar: 364134| ClinVar: 364133| ClinVar: 364132| ClinVar: 364131| ClinVar: 364130| ClinVar: 364129| ClinVar: 364128| ClinVar: 364127| ClinVar: 364126| ClinVar: 364125| ClinVar: 364124| ClinVar: 364123| ClinVar: 364122| ClinVar: 364121| ClinVar: 364120| ClinVar: 364119| ClinVar: 364118| ClinVar: 364117| ClinVar: 364116| ClinVar: 364115| ClinVar: 364114| ClinVar: 364113| ClinVar: 364111| ClinVar: 364110| ClinVar: 364109| ClinVar: 364108| ClinVar: 364107| ClinVar: 364106| ClinVar: 364105| ClinVar: 364104| ClinVar: 364103| ClinVar: 364102| ClinVar: 364101| ClinVar: 364100| ClinVar: 364099| ClinVar: 364097| ClinVar: 364095| ClinVar: 364112| ClinVar: 364148| ClinVar: 364098| ClinVar: 364096| ClinVar: 213855| ClinVar: 12525| ClinVar: 161393| ClinVar: 45093| ClinVar: 213868| ClinVar: 177810| ClinVar: 45097| ClinVar: 12524| ClinVar: 36857| ClinVar: 165381 familial aneurysm conflicting interpretations of pathogenicity "Cell membrane ; Single-pass type I membrane protein. Cell junction, tight junction. Cell surface. Membrane raft." human Thoracic aortic aneurysm and dissection TGFBR2 7048 "c.1268T>C, p.Phe423Ser| NM_003242.5:c.1591G>A (p.Ala531Thr)| NM_003242.5:c.617C>T (p.Thr206Met)| NM_003242.5:c.1524+1G>T| NM_003242.5:c.1189G>A (p.Asp397Asn)| NM_003242.5:c.678C>T (p.Asp226=)| NM_003242.5:c.914T>G (p.Leu305Arg)| NM_003242.5:c.659T>C (p.Leu220Pro)| NM_003242.5:c.511A>G (p.Ser171Gly)| NM_003242.5:c.448T>C (p.Ser150Pro)| NM_003242.5:c.372G>A (p.Lys124=)| NM_003242.5:c.1701A>G (p.Lys567=)| NM_003242.5:c.1524+7A>G| NM_003242.5:c.1492C>G (p.Pro498Ala)| NM_003242.5:c.1436G>A (p.Arg479Gln)| NM_003242.5:c.1419A>G (p.Pro473=)| NM_003242.5:c.1397-1G>A| NM_003242.5:c.1259G>T (p.Gly420Val)| NM_003242.5:c.1254+6T>A| NM_003242.5:c.1181G>A (p.Cys394Tyr)| NM_003242.5:c.1135_1140delGACCTC (p.Asp379_Leu380del)| NM_003242.5:c.1058C>T (p.Ser353Phe)| NM_003242.5:c.1006T>G (p.Tyr336Asp)| NM_003242.5:c.1524+10G>C| NM_003242.5:c.222C>T (p.Thr74=)| NM_003242.5:c.1029C>T (p.Ser343=)| NM_003242.5:c.94+16278G>C| NM_003242.5:c.1346C>G (p.Ser449Cys)| NM_003242.5:c.202A>C (p.Met68Leu)| NM_003242.5:c.215G>A (p.Ser72Asn)| NM_003242.5:c.1643C>T (p.Ser548Leu)| NM_003242.5:c.1565A>C (p.Asp522Ala)| NM_003242.5:c.1531C>T (p.Gln511Ter)| NM_003242.5:c.1246A>G (p.Ser416Gly)| NM_003242.5:c.1126G>A (p.Val376Met)| NM_003242.5:c.1547C>T (p.Thr516Met)| NM_003242.5:c.500T>C (p.Val167Ala)| NM_003242.5:c.69G>T (p.Thr23=)| NM_003242.5:c.609C>T (p.Thr203=)| NM_003242.5:c.4G>T (p.Gly2Cys)| NM_003242.5:c.1529delT (p.Ile510Thrfs)| NM_003242.5:c.1271A>G (p.Tyr424Cys)| NM_003242.5:c.1171C>T (p.Leu391=)| NM_003242.5:c.116C>A (p.Thr39Asn)| NM_003242.5:c.1178G>A (p.Cys393Tyr)| NM_003242.5:c.1217C>T (p.Pro406Leu)| NM_003242.5:c.383delA (p.Lys128Serfs)| NM_003242.5:c.1569C>T (p.His523=)| NM_003242.5:c.556T>A (p.Phe186Ile)| NM_003242.5:c.95-3C>A| NM_003242.5:c.106A>G (p.Met36Val)| NM_003242.5:c.760C>T (p.Arg254Cys)| NM_003242.5:c.94+16263A>C| NM_003242.5:c.1548G>A (p.Thr516=)| NM_003242.5:c.1125C>T (p.Ile375=)| NM_003242.5:c.297A>G (p.Thr99=)| NM_003242.5:c.1458C>T (p.Ser486=)| NM_003242.5:c.1525-7G>A| NM_003242.5:c.944C>T (p.Thr315Met)| NM_003242.5:c.*2483T>G| NM_003242.5:c.*2437T>A| NM_003242.5:c.*2425C>A| NM_003242.5:c.*2340T>C| NM_003242.5:c.*2335T>A| NM_003242.5:c.*2332A>C| NM_003242.5:c.*2248dupT| NM_003242.5:c.*2085T>A| NM_003242.5:c.*2066G>A| NM_003242.5:c.*2065C>T| NM_003242.5:c.*1998G>A| NM_003242.5:c.*1887G>T| NM_003242.5:c.*1886G>T| NM_003242.5:c.*1880G>A| NM_003242.5:c.*1860C>A| NM_003242.5:c.*1859G>T| NM_003242.5:c.*1842G>T| NM_003242.5:c.*1833A>C| NM_003242.5:c.*1815C>T| NM_003242.5:c.*1809A>G| NM_003242.5:c.*1682A>G| NM_003242.5:c.*1572A>G| NM_003242.5:c.*1521G>A| NM_003242.5:c.*1507A>G| NM_003242.5:c.*1354C>T| NM_003242.5:c.*1326G>A| NM_003242.5:c.*1285A>T| NM_003242.5:c.*1211A>T| NM_003242.5:c.*1201C>T| NM_003242.5:c.*1075C>T| NM_003242.5:c.*997T>A| NM_003242.5:c.*989G>A| NM_003242.5:c.*988C>T| NM_003242.5:c.*859G>A| NM_003242.5:c.*858C>T| NM_003242.5:c.*848C>T| NM_003242.5:c.*835C>A| NM_003242.5:c.*799A>G| NM_003242.5:c.*793G>T| NM_003242.5:c.*747C>G| NM_003242.5:c.*742C>T| NM_003242.5:c.*713G>T| NM_003242.5:c.*704A>G| NM_003242.5:c.*599C>A| NM_003242.5:c.*598G>T| NM_003242.5:c.*443A>G| NM_003242.5:c.*352A>G| NM_003242.5:c.*330C>A| NM_003242.5:c.*330_*331delCT| NM_003242.5:c.*328A>C| NM_003242.5:c.*312A>T| NM_003242.5:c.*326_*329dupATAT| NM_003242.5:c.*226C>A| NM_003242.5:c.*149A>T| NM_003242.5:c.*105G>A| NM_003242.5:c.*86A>G| NM_003242.5:c.*33A>G| NM_003242.5:c.1525-10C>G| NM_003242.5:c.1470C>T (p.Asn490=)| NM_003242.5:c.1042C>T (p.Arg348Cys)| NM_003242.5:c.736C>T (p.Leu246=)| NM_003242.5:c.621G>A (p.Arg207=)| NM_003242.5:c.472C>T (p.Pro158Ser)| NM_003242.5:c.-18C>A| NM_003242.5:c.-117G>A| NM_003242.5:c.-128C>G| NM_003242.5:c.-193G>A| NM_003242.5:c.-228C>A| NM_003242.5:c.-249T>G| NM_003242.5:c.-302A>G| NM_003242.5:c.-307C>T| NM_003242.5:c.-344C>A| NM_003242.5:c.-371A>C| NM_003242.5:c.696C>T (p.Ala232=)| NM_003242.5:c.690G>A (p.Thr230=)| NM_003242.5:c.1208G>A (p.Arg403His)| NM_003242.5:c.915C>T (p.Leu305=)| NM_003242.5:c.1525-8C>T| NM_003242.5:c.984C>T (p.His328=)| NM_003242.5:c.367A>T (p.Met123Leu)| NM_003242.5:c.1602G>A (p.Val534=)| NM_003242.5:c.1167C>T (p.Asn389=)| NM_003242.5:c.455-4T>A| NM_003242.5:c.263+7A>G| NM_003242.5:c.571G>A (p.Val191Ile)| NM_003242.5:c.1062C>T (p.Leu354=)| NM_003242.5:c.1266A>G (p.Ala422=)| NM_003242.5:c.999A>G (p.Leu333=)| NM_003242.5:c.1119G>A (p.Met373Ile)| NM_001024847.2:c.1732T>A (p.Ser578Thr)| NM_003242.5:c.1159G>A (p.Val387Met)| NM_003242.5:c.412T>G (p.Cys138Gly)| NM_003242.5:c.1159G>T (p.Val387Leu)| NM_003242.5:c.1609C>T (p.Arg537Cys)| NM_003242.5:c.1489C>T (p.Arg497Ter)| NM_003242.5:c.1483C>T (p.Arg495Ter)" PMID: 27017362| ClinVar: 165399| ClinVar: 44659| ClinVar: 517118| ClinVar: 264397| ClinVar: 263936| ClinVar: 477550| ClinVar: 477549| ClinVar: 477548| ClinVar: 477547| ClinVar: 477545| ClinVar: 477544| ClinVar: 477542| ClinVar: 477541| ClinVar: 477540| ClinVar: 477539| ClinVar: 477538| ClinVar: 477537| ClinVar: 477536| ClinVar: 477535| ClinVar: 477534| ClinVar: 477533| ClinVar: 477532| ClinVar: 414977| ClinVar: 414976| ClinVar: 414975| ClinVar: 414974| ClinVar: 408444| ClinVar: 408443| ClinVar: 408442| ClinVar: 408441| ClinVar: 408440| ClinVar: 408438| ClinVar: 408437| ClinVar: 408436| ClinVar: 408435| ClinVar: 408433| ClinVar: 239533| ClinVar: 239532| ClinVar: 239531| ClinVar: 239529| ClinVar: 239528| ClinVar: 239527| ClinVar: 239526| ClinVar: 264260| ClinVar: 213926| ClinVar: 477546| ClinVar: 477543| ClinVar: 408439| ClinVar: 408434| ClinVar: 264100| ClinVar: 213942| ClinVar: 213912| ClinVar: 239530| ClinVar: 213907| ClinVar: 177827| ClinVar: 263413| ClinVar: 44656| ClinVar: 12502| ClinVar: 344720| ClinVar: 344719| ClinVar: 344718| ClinVar: 344717| ClinVar: 344716| ClinVar: 344715| ClinVar: 344714| ClinVar: 344713| ClinVar: 344712| ClinVar: 344711| ClinVar: 344710| ClinVar: 344709| ClinVar: 344708| ClinVar: 344707| ClinVar: 344706| ClinVar: 344705| ClinVar: 344704| ClinVar: 344703| ClinVar: 344702| ClinVar: 344701| ClinVar: 344700| ClinVar: 344699| ClinVar: 344698| ClinVar: 344697| ClinVar: 344696| ClinVar: 344695| ClinVar: 344694| ClinVar: 344693| ClinVar: 344692| ClinVar: 344691| ClinVar: 344690| ClinVar: 344689| ClinVar: 344688| ClinVar: 344687| ClinVar: 344686| ClinVar: 344685| ClinVar: 344684| ClinVar: 344683| ClinVar: 344682| ClinVar: 344681| ClinVar: 344680| ClinVar: 344679| ClinVar: 344678| ClinVar: 344677| ClinVar: 344676| ClinVar: 344675| ClinVar: 344674| ClinVar: 344673| ClinVar: 344672| ClinVar: 344671| ClinVar: 344670| ClinVar: 344669| ClinVar: 344668| ClinVar: 344667| ClinVar: 344666| ClinVar: 344665| ClinVar: 344664| ClinVar: 344663| ClinVar: 344662| ClinVar: 344661| ClinVar: 344660| ClinVar: 344657| ClinVar: 344656| ClinVar: 344655| ClinVar: 344654| ClinVar: 344653| ClinVar: 344652| ClinVar: 344651| ClinVar: 344650| ClinVar: 344649| ClinVar: 344648| ClinVar: 344647| ClinVar: 344646| ClinVar: 344659| ClinVar: 344658| ClinVar: 213908| ClinVar: 213906| ClinVar: 213910| ClinVar: 36869| ClinVar: 213939| ClinVar: 137637| ClinVar: 44652| ClinVar: 44658| ClinVar: 36867| ClinVar: 137635| ClinVar: 137636| ClinVar: 36865| ClinVar: 44661| ClinVar: 36859| ClinVar: 161394| ClinVar: 44651| ClinVar: 213915| ClinVar: 36862| ClinVar: 12507| ClinVar: 213934| ClinVar: 12519 conflicting interpretations of pathogenicity Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Thoracic aortic dissection ACE 1636 I/D polymorphysm PMID: 23079706 in Chinese Han population "Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons.." human Thoracic aortic dissection CTGF 1490 aortic wall: increase in protein level PMID: 16820572 "Secreted, extracellular space, extracellular matrix. Secreted." human Thoracic aortic dissection FBLN5 10516 aortic tissue: decrease in RNA level PMID: 16153447 "Secreted. Secreted, extracellular space, extracellular matrix. Note=co-localizes with ELN in elastic fibers.." human Thoracic aortic dissection FHL1 2273 aortic tissue: decrease in RNA level| plasma: decrease in protein level PMID: 21126853| PMID: 19564206 "Isoform 1: Cytoplasm. Isoform 3: Cytoplasm. Nucleus. Isoform 2: Nucleus. Cytoplasm, cytosol. Note=Predominantly nuclear in myoblasts but is cytosolic in differentiated myotubes." human Thoracic aortic dissection LRP1 4035 rs11172113 PMID: 27569546 sporadic aneurysm "Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus." human Thoracic aortic dissection MMP2 4313 2-SNP window rs2241145-rs9928731 PMID: 26762140 "2 SNP sliding window (this research did not find any significant association for MMP2 SNPs using single-marker analysis, a variable-sized sliding-window strategy was then used to identify windows with haplotype frequencies significantly different between case participants and control participants)" "Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Isoform 2: Cytoplasm. Mitochondrion." human Thoracic aortic dissection MMP8 4317 plasma: increase in RNA level| 799C/T| c.C799T PMID: 20708200| PMID: 25109362| PMID: 24065531 acute TAD "Cytoplasmic granule. Secreted, extracellular space, extracellular matrix. Note=Stored in intracellular granules." human Thoracic aortic dissection MMP9 4318 rs2274756 PMID: 24487965 in Chinese Han women "Secreted, extracellular space, extracellular matrix." human Thoracic aortic dissection MYH11 4629 "c.3766_3768delAAG, p.K1256del " PMID: 26056961 familial aneurysm Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. human Thoracic aortic dissection S100A12 6283 TAD tissue: increase in protein level PMID: 24691129 help predict complication like cardiovascular events "Secreted. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane ; Peripheral membrane protein. Note=Predominantly localized in the cytoplasm. Upon elevation of the intracellular calcium level, translocated from the cytoplasm to the cytoskeleton and the cell membrane. Upon neutrophil activation is secreted via a microtubule-mediated, alternative pathway." human Thoracic aortic dissection SMARCA4 6597 aortic smooth muscle cells: increase in protein level| increase in RNA level PMID: 25304030 Nucleus. Note=Colocalizes with long non-coding RNA Evf2 in nuclear RNA clouds.. human Thoracic aortic dissection SMTN 6525 aortic tissue: decrease in protein level PMID: 22960022 "Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization." human Thoracic aortic dissection SPP1 6696 aortic tissue: increase in protein level PMID: 22960022 Secreted. human Thoracic aortic dissection TGFBR2 7048 NM_003242.5:c.1159G>A (p.Val387Met) ClinVar: 44651 conflicting interpretations of pathogenicity Cell membrane ; Single-pass type I membrane protein. Membrane raft. human Thoracic aortic dissection TGM2 7052 -857C/T PMID: 26544637 human Thoracic aortic dissection TRIM25 7706 aorta: increase in RNA level PMID: 27903487 mediate the P53-MDM2 loop Cytoplasm. Note=Colocalized with DDX58 at cytoplasmic perinuclear bodies. human Thoracic aortic dissection ULK4 54986 rs2272007 PMID: 27569546 sporadic aneurysm human Vertebral and subclavian aneurysms TGFBR2 7048 mutation PMID: 23312833 case report Cell membrane ; Single-pass type I membrane protein. Membrane raft. human