Browse ARID2 in pancancer

Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Domain, Function and Classification
> Gene Ontology
> KEGG and Reactome Pathway
> Domain, Function and Classification
 
Domain PF01388 ARID/BRIGHT DNA binding domain
PF02257 RFX DNA-binding domain
Function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes.

Classification
Class Modification Substrate Product PubMed
Chromatin remodelling cofactor # DNA motif # 15640446
> Gene Ontology
 
Biological Process GO:0006333 chromatin assembly or disassembly
GO:0006337 nucleosome disassembly
GO:0030336 negative regulation of cell migration
GO:0031498 chromatin disassembly
GO:0032984 macromolecular complex disassembly
GO:0032986 protein-DNA complex disassembly
GO:0034728 nucleosome organization
GO:0040013 negative regulation of locomotion
GO:0043241 protein complex disassembly
GO:0051271 negative regulation of cellular component movement
GO:0071824 protein-DNA complex subunit organization
GO:2000146 negative regulation of cell motility
Molecular Function -
Cellular Component GO:0070603 SWI/SNF superfamily-type complex
GO:0090544 BAF-type complex
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-3247509: Chromatin modifying enzymes
R-HSA-4839726: Chromatin organization
R-HSA-3214858: RMTs methylate histone arginines
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Mutation landscape in primary tumor tissue from TCGA
> Mutation landscape in cancer cell line from CCLE
> All mutations from COSMIC database V81
> Variations from text mining
> The Cancer Genome Atlas (TCGA)
 
> Cancer Cell Line Encyclopedia (CCLE)
 
There is no record.
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM4498307c.5179C>Tp.P1727SSubstitution - MissenseSkin
COSM3704150c.5188C>Tp.Q1730*Substitution - NonsenseLiver
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseLiver
COSM5990675c.1057C>Tp.H353YSubstitution - MissenseLiver
COSM2067827c.2276C>Tp.S759FSubstitution - MissenseLarge_intestine
COSM3704148c.4844T>Gp.F1615CSubstitution - MissenseLiver
COSM939513c.4535_4545del11p.C1512fs*1Deletion - FrameshiftEndometrium
COSM693903c.3298C>Gp.Q1100ESubstitution - MissenseLung
COSM1628612c.4717delGp.A1573fs*53Deletion - FrameshiftLiver
COSM1628601c.206G>Ap.W69*Substitution - NonsenseLiver
COSM1512173c.1426C>Tp.Q476*Substitution - NonsenseLiver
COSM1606149c.5001T>Gp.C1667WSubstitution - MissenseLiver
COSM4804483c.3790G>Tp.E1264*Substitution - NonsenseLiver
COSM5990677c.1510G>Ap.V504ISubstitution - MissenseLiver
COSM5647552c.3980C>Gp.S1327*Substitution - NonsenseOesophagus
COSM1361683c.1277C>Tp.T426MSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM231543c.2872_2873insAp.T959fs*9Insertion - FrameshiftSkin
COSM1512174c.820C>Tp.R274*Substitution - NonsenseUpper_aerodigestive_tract
COSM3460962c.699C>Tp.F233FSubstitution - coding silentSkin
COSM6006349c.1774G>Ap.A592TSubstitution - MissenseSkin
COSM4608448c.1151C>Ap.A384ESubstitution - MissenseAdrenal_gland
COSM5607875c.5359C>Ap.R1787SSubstitution - MissenseSkin
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseSkin
COSM2067836c.2802A>Gp.Q934QSubstitution - coding silentLarge_intestine
COSM6006358c.2527C>Tp.Q843*Substitution - NonsenseSkin
COSM1167907c.5147+1G>Ap.?UnknownSkin
COSM3460964c.862C>Tp.Q288*Substitution - NonsenseSkin
COSM5704454c.3613G>Tp.G1205*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1245459c.3370C>Tp.Q1124*Substitution - NonsenseLiver
COSM5047834c.947T>Cp.L316PSubstitution - MissenseOesophagus
COSM3704146c.2045C>Gp.S682*Substitution - NonsenseLiver
COSM3460969c.2173C>Tp.Q725*Substitution - NonsenseSkin
COSM4951169c.5131C>Tp.Q1711*Substitution - NonsenseLiver
COSM218404c.940C>Ap.R314SSubstitution - MissensePancreas
COSM1183571c.1463A>Gp.Q488RSubstitution - MissenseLarge_intestine
COSM3460971c.2881C>Tp.Q961*Substitution - NonsenseSkin
COSM4949469c.3277C>Tp.P1093SSubstitution - MissenseSkin
COSM2067865c.4384C>Tp.Q1462*Substitution - NonsenseOesophagus
COSM1361705c.5239G>Tp.G1747*Substitution - NonsenseLarge_intestine
COSM3460974c.3121C>Tp.Q1041*Substitution - NonsenseSkin
COSM5985331c.4565C>Gp.T1522SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM131035c.4413_4419delACATTCTp.H1472fs*11Deletion - FrameshiftLiver
COSM3416866c.4929T>Cp.F1643FSubstitution - coding silentLarge_intestine
COSM4565485c.2145_2146GG>AAp.A716TSubstitution - MissenseSkin
COSM1361687c.1418C>Ap.S473YSubstitution - MissenseLarge_intestine
COSM1316398c.2909C>Gp.P970RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1183566c.2003C>Ap.S668YSubstitution - MissenseLarge_intestine
COSM1299387c.5482G>Cp.E1828QSubstitution - MissenseUrinary_tract
COSM1167929c.2872C>Tp.Q958*Substitution - NonsenseLarge_intestine
COSM4949549c.4774-2A>Gp.?UnknownLiver
COSM1660623c.4076A>Gp.N1359SSubstitution - MissenseKidney
COSM939502c.2011G>Ap.V671ISubstitution - MissenseEndometrium
COSM4663269c.1801C>Tp.R601WSubstitution - MissenseLarge_intestine
COSM2067785c.356_366del11p.K119fs*31Deletion - FrameshiftSalivary_gland
COSM4799656c.4923-2A>Gp.?UnknownLiver
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1746980c.4531G>Tp.E1511*Substitution - NonsenseUrinary_tract
COSM693909c.1467C>Tp.V489VSubstitution - coding silentLung
COSM3871640c.1917C>Tp.I639ISubstitution - coding silentSkin
COSM957513c.1_5508del5508p.0?Whole gene deletionLiver
COSM5651280c.3454C>Tp.P1152SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1361683c.1277C>Tp.T426MSubstitution - MissenseLarge_intestine
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseUpper_aerodigestive_tract
COSM251424c.1802G>Ap.R601QSubstitution - MissenseLiver
COSM3739668c.187-1G>Ap.?UnknownLiver
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM5654237c.2715A>Cp.Q905HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM212790c.2455C>Tp.Q819*Substitution - NonsenseBreast
COSM4949597c.4532delAp.E1511fs*5Deletion - FrameshiftLiver
COSM251369c.1507_1508insAGp.A503fs*4Insertion - FrameshiftLiver
COSM4754289c.1805G>Tp.R602MSubstitution - MissenseStomach
COSM5725619c.992G>Ap.G331DSubstitution - MissenseSkin
COSM1746979c.2337A>Tp.V779VSubstitution - coding silentUrinary_tract
COSM693914c.155C>Tp.T52ISubstitution - MissenseLung
COSM1606139c.3433_3434insTp.S1146fs*14Insertion - FrameshiftLiver
COSM5048054c.2644G>Tp.G882CSubstitution - MissenseOesophagus
COSM4949786c.4031_4032ins68p.I1344fs*5Insertion - FrameshiftLiver
COSM5348617c.1083_1084insAp.C362fs*7Insertion - FrameshiftLiver
COSM278971c.940C>Tp.R314CSubstitution - MissenseLarge_intestine
COSM939495c.739C>Ap.R247SSubstitution - MissenseEndometrium
COSM1361690c.1764_1765insAATp.N589_G590insNInsertion - In frameLarge_intestine
COSM5548899c.5318C>Tp.A1773VSubstitution - MissenseProstate
COSM1361697c.3203_3205delGTGp.G1069delGDeletion - In frameLarge_intestine
COSM107635c.3127C>Tp.Q1043*Substitution - NonsenseStomach
COSM1685691c.4946_4947delTTp.F1650fs*6Deletion - FrameshiftSkin
COSM1512174c.820C>Tp.R274*Substitution - NonsenseSkin
COSM2067882c.4951T>Cp.Y1651HSubstitution - MissenseLarge_intestine
COSM4399765c.1468C>Tp.Q490*Substitution - NonsenseSkin
COSM5047368c.3928G>Cp.G1310RSubstitution - MissenseOesophagus
COSM459508c.595A>Gp.I199VSubstitution - MissenseUrinary_tract
COSM4990228c.5476G>Ap.E1826KSubstitution - MissenseSkin
COSM3460969c.2173C>Tp.Q725*Substitution - NonsenseSkin
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM5375176c.2953C>Tp.P985SSubstitution - MissenseSkin
COSM4041994c.4496T>Cp.L1499PSubstitution - MissenseStomach
COSM5506403c.300C>Tp.Y100YSubstitution - coding silentBiliary_tract
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseSkin
COSM4663274c.5306G>Ap.R1769QSubstitution - MissenseLarge_intestine
COSM5792878c.3905C>Tp.S1302LSubstitution - MissenseBreast
COSM468374c.94T>Ap.S32TSubstitution - MissenseKidney
COSM5635060c.5426C>Tp.S1809FSubstitution - MissenseOesophagus
COSM5990680c.3992G>Ap.G1331DSubstitution - MissenseLiver
COSM4984817c.?p.R80fs*10FrameshiftLung
COSM3739670c.2324T>Cp.L775SSubstitution - MissenseLiver
COSM4450131c.457delAp.N153fs*62Deletion - FrameshiftSkin
COSM4618996c.1352C>Gp.S451CSubstitution - MissenseLarge_intestine
COSM251412c.1073C>Gp.T358SSubstitution - MissenseLiver
COSM1183572c.881G>Tp.R294ISubstitution - MissenseSkin
COSM1188476c.2743A>Gp.I915VSubstitution - MissenseLung
COSM3665405c.5022delTp.Q1676fs*25Deletion - FrameshiftLiver
COSM3460965c.881G>Ap.R294KSubstitution - MissenseSkin
COSM236289c.1868delGp.R623fs*24Deletion - FrameshiftAutonomic_ganglia
COSM5548899c.5318C>Tp.A1773VSubstitution - MissenseProstate
COSM5820146c.5207A>Tp.H1736LSubstitution - MissenseLiver
COSM5967029c.5382A>Tp.E1794DSubstitution - MissensePituitary
COSM4486034c.3001C>Tp.P1001SSubstitution - MissenseSkin
COSM106761c.430C>Tp.Q144*Substitution - NonsenseSkin
COSM939512c.4198G>Tp.D1400YSubstitution - MissenseEndometrium
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseUpper_aerodigestive_tract
COSM1361706c.5348C>Ap.S1783*Substitution - NonsenseLarge_intestine
COSM3460980c.4425C>Tp.T1475TSubstitution - coding silentSkin
COSM5348216c.4533delAp.E1511fs*5Deletion - FrameshiftLiver
COSM1167927c.3493C>Tp.Q1165*Substitution - NonsenseSkin
COSM5557523c.2544A>Gp.I848MSubstitution - MissenseProstate
COSM5490687c.4585G>Tp.G1529*Substitution - NonsenseBiliary_tract
COSM693902c.3429G>Ap.V1143VSubstitution - coding silentLung
COSM5735072c.710G>Ap.W237*Substitution - NonsensePancreas
COSM217018c.2134G>Tp.E712*Substitution - NonsenseLiver
COSM98118c.2710C>Tp.Q904*Substitution - NonsenseUpper_aerodigestive_tract
COSM5038915c.920C>Ap.A307ESubstitution - MissenseLiver
COSM2067795c.994C>Tp.L332FSubstitution - MissenseOesophagus
COSM5051594c.1079C>Ap.T360KSubstitution - MissenseStomach
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM131033c.200delAp.N67fs*23Deletion - FrameshiftLiver
COSM1606131c.799G>Tp.E267*Substitution - NonsenseBiliary_tract
COSM1606133c.1037C>Tp.P346LSubstitution - MissenseLiver
COSM1196491c.1354A>Gp.M452VSubstitution - MissenseLung
COSM693901c.3592C>Gp.P1198ASubstitution - MissenseLung
COSM3871640c.1917C>Tp.I639ISubstitution - coding silentSkin
COSM4804483c.3790G>Tp.E1264*Substitution - NonsenseLiver
COSM1167951c.2611C>Tp.Q871*Substitution - NonsenseSkin
COSM2067865c.4384C>Tp.Q1462*Substitution - NonsenseBiliary_tract
COSM3968226c.1126G>Ap.E376KSubstitution - MissenseBiliary_tract
COSM3460979c.4351C>Tp.P1451SSubstitution - MissenseSkin
COSM3460967c.1825C>Tp.Q609*Substitution - NonsenseSkin
COSM217018c.2134G>Tp.E712*Substitution - NonsenseLiver
COSM4663270c.3135G>Ap.S1045SSubstitution - coding silentLarge_intestine
COSM274040c.541A>Gp.T181ASubstitution - MissenseLarge_intestine
COSM939525c.5148G>Ap.K1716KSubstitution - coding silentEndometrium
COSM4771709c.1023+6C>Ap.?UnknownStomach
COSM1167927c.3493C>Tp.Q1165*Substitution - NonsenseSkin
COSM939494c.586G>Tp.D196YSubstitution - MissenseEndometrium
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM4399765c.1468C>Tp.Q490*Substitution - NonsenseSkin
COSM1512174c.820C>Tp.R274*Substitution - NonsenseSkin
COSM3986927c.5062-1G>Ap.?UnknownKidney
COSM1606135c.1231G>Tp.D411YSubstitution - MissenseLiver
COSM1628613c.5147+3A>Cp.?UnknownLiver
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM251411c.5174C>Gp.S1725*Substitution - NonsenseLiver
COSM189021c.853C>Tp.R285WSubstitution - MissenseEndometrium
COSM1299384c.803C>Tp.S268FSubstitution - MissenseUrinary_tract
COSM3384360c.3799G>Tp.E1267*Substitution - NonsenseSkin
COSM5375180c.5109T>Ap.D1703ESubstitution - MissenseSkin
COSM1606136c.2392C>Tp.Q798*Substitution - NonsenseLiver
COSM6008957c.2377C>Tp.Q793*Substitution - NonsenseLarge_intestine
COSM3460966c.1787T>Ap.V596ESubstitution - MissenseSkin
COSM5456334c.2255A>Gp.Q752RSubstitution - MissenseLarge_intestine
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseSkin
COSM939506c.2969C>Tp.S990LSubstitution - MissenseEndometrium
COSM131031c.74_75insAp.F26fs*10Insertion - FrameshiftLiver
COSM1628603c.755_756delACp.D252fs*6Deletion - FrameshiftLiver
COSM5945939c.3622A>Gp.T1208ASubstitution - MissenseSkin
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseOesophagus
COSM1183572c.881G>Tp.R294ISubstitution - MissenseLarge_intestine
COSM1196491c.1354A>Gp.M452VSubstitution - MissenseLung
COSM939499c.1567T>Gp.F523VSubstitution - MissenseEndometrium
COSM1159250c.1716-1G>Ap.?UnknownSkin
COSM3812047c.1113G>Cp.K371NSubstitution - MissenseBreast
COSM3460969c.2173C>Tp.Q725*Substitution - NonsenseSkin
COSM5953499c.3007G>Cp.V1003LSubstitution - MissenseOesophagus
COSM1361679c.186+1G>Ap.?UnknownLarge_intestine
COSM77290c.2357G>Cp.G786ASubstitution - MissenseOvary
COSM1705489c.577C>Tp.L193FSubstitution - MissenseSkin
COSM4949549c.4774-2A>Gp.?UnknownLiver
COSM4663273c.4583C>Tp.A1528VSubstitution - MissenseLarge_intestine
COSM3460971c.2881C>Tp.Q961*Substitution - NonsenseSkin
COSM1159250c.1716-1G>Ap.?UnknownPancreas
COSM1683459c.2610_2611insTp.Q871fs*80Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5375174c.720C>Tp.I240ISubstitution - coding silentSkin
COSM1167993c.3937C>Tp.Q1313*Substitution - NonsenseSkin
COSM1476565c.1653G>Ap.S551SSubstitution - coding silentBreast
COSM1606150c.5110G>Tp.E1704*Substitution - NonsenseLiver
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseSkin
COSM4479255c.2308C>Tp.P770SSubstitution - MissenseSkin
COSM1606129c.78delCp.H27fs*31Deletion - FrameshiftLiver
COSM5024923c.1246A>Tp.I416FSubstitution - MissenseBreast
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM5508136c.3269delCp.A1090fs*66Deletion - FrameshiftBiliary_tract
COSM73727c.1397A>Cp.K466TSubstitution - MissenseOvary
COSM5346193c.601A>Cp.T201PSubstitution - MissenseUrinary_tract
COSM215529c.4576delAp.T1526fs*9Deletion - FrameshiftCentral_nervous_system
COSM4950370c.5390_5391delTAp.L1797fs*6Deletion - FrameshiftLiver
COSM5047858c.3340C>Ap.Q1114KSubstitution - MissenseOesophagus
COSM5945830c.?_?del?p.?UnknownPleura
COSM258925c.1349delTp.S451fs*12Deletion - FrameshiftLarge_intestine
COSM939488c.65A>Gp.E22GSubstitution - MissenseEndometrium
COSM3460968c.2158C>Tp.Q720*Substitution - NonsenseSkin
COSM4754290c.3670C>Gp.P1224ASubstitution - MissenseStomach
COSM5704453c.1716-1G>Tp.?UnknownHaematopoietic_and_lymphoid_tissue
COSM4995124c.4493C>Tp.A1498VSubstitution - MissenseUpper_aerodigestive_tract
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseCentral_nervous_system
COSM4776608c.3943G>Ap.E1315KSubstitution - MissenseBreast
COSM693904c.3044A>Cp.Q1015PSubstitution - MissenseLung
COSM5735073c.1026_1027insGAp.L343fs*13Insertion - FrameshiftPancreas
COSM3460967c.1825C>Tp.Q609*Substitution - NonsenseSkin
COSM1628609c.1433T>Ap.L478*Substitution - NonsenseLiver
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseSkin
COSM957507c.1580G>Tp.W527LSubstitution - MissenseLung
COSM5002451c.3124C>Ap.P1042TSubstitution - MissensePancreas
COSM5174078c.5041_5042delTCp.S1681fs*8Deletion - FrameshiftLarge_intestine
COSM213955c.2776G>Ap.V926ISubstitution - MissenseBreast
COSM3460984c.5026C>Tp.Q1676*Substitution - NonsenseSkin
COSM1183572c.881G>Tp.R294ISubstitution - MissenseLarge_intestine
COSM5742623c.4922+1G>Ap.?UnknownSmall_intestine
COSM5607878c.4723C>Tp.Q1575*Substitution - NonsenseSkin
COSM4487836c.3238C>Tp.P1080SSubstitution - MissenseSkin
COSM939527c.5417A>Tp.E1806VSubstitution - MissenseEndometrium
COSM693915c.78C>Gp.F26LSubstitution - MissenseLung
COSM939526c.5219C>Tp.A1740VSubstitution - MissenseEndometrium
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseOesophagus
COSM266035c.925A>Gp.N309DSubstitution - MissenseStomach
COSM1361683c.1277C>Tp.T426MSubstitution - MissenseLarge_intestine
COSM4949470c.3276T>Ap.A1092ASubstitution - coding silentLiver
COSM5809894c.4015C>Tp.Q1339*Substitution - NonsenseLiver
COSM4799656c.4923-2A>Gp.?UnknownLiver
COSM5551578c.4055A>Gp.D1352GSubstitution - MissenseProstate
COSM5046254c.2390C>Tp.P797LSubstitution - MissenseOesophagus
COSM5346292c.602C>Ap.T201NSubstitution - MissenseUrinary_tract
COSM431131c.4304C>Tp.S1435LSubstitution - MissenseBreast
COSM3704149c.4888C>Tp.Q1630*Substitution - NonsenseLiver
COSM4767425c.3841G>Tp.G1281WSubstitution - MissenseBiliary_tract
COSM3460986c.5062G>Ap.D1688NSubstitution - MissenseSkin
COSM939489c.211G>Tp.E71*Substitution - NonsenseEndometrium
COSM3704144c.961C>Tp.H321YSubstitution - MissenseLiver
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1128591c.2037A>Tp.Q679HSubstitution - MissenseProstate
COSM4041997c.4923-1G>Cp.?UnknownStomach
COSM3954777c.400C>Tp.Q134*Substitution - NonsenseSkin
COSM131489c.2947C>Tp.Q983*Substitution - NonsenseLiver
COSM4041998c.4999T>Cp.C1667RSubstitution - MissenseStomach
COSM4334453c.103delAp.I37fs*21Deletion - FrameshiftLarge_intestine
COSM3460978c.4150C>Tp.H1384YSubstitution - MissenseSkin
COSM5548899c.5318C>Tp.A1773VSubstitution - MissenseProstate
COSM265253c.854G>Ap.R285QSubstitution - MissenseBreast
COSM268370c.4651G>Ap.A1551TSubstitution - MissenseLarge_intestine
COSM36756c.4061G>Ap.R1354KSubstitution - MissenseSkin
COSM1167907c.5147+1G>Ap.?UnknownLarge_intestine
COSM4767425c.3841G>Tp.G1281WSubstitution - MissenseBiliary_tract
COSM1512174c.820C>Tp.R274*Substitution - NonsenseSkin
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1628606c.1120G>Cp.G374RSubstitution - MissenseLiver
COSM1676889c.1006G>Tp.G336*Substitution - NonsenseLarge_intestine
COSM1676889c.1006G>Tp.G336*Substitution - NonsenseLarge_intestine
COSM4041977c.161T>Cp.V54ASubstitution - MissenseStomach
COSM5953323c.487C>Tp.L163FSubstitution - MissenseOesophagus
COSM5733535c.989T>Gp.L330*Substitution - NonsensePancreas
COSM431133c.5199T>Gp.I1733MSubstitution - MissenseBreast
COSM5348731c.2892_2893insACAp.G964_Q965insTInsertion - In frameLiver
COSM4887334c.4603G>Tp.G1535*Substitution - NonsenseUpper_aerodigestive_tract
COSM5490569c.3040C>Tp.Q1014*Substitution - NonsenseBiliary_tract
COSM3812048c.1561G>Ap.E521KSubstitution - MissenseBreast
COSM131036c.4753_4756delGTACp.V1585fs*40Deletion - FrameshiftLiver
COSM1159017c.2815_2816insAp.Y939fs*1Insertion - FrameshiftPancreas
COSM1628616c.5305C>Tp.R1769*Substitution - NonsenseLiver
COSM3416862c.587A>Cp.D196ASubstitution - MissenseLarge_intestine
COSM268370c.4651G>Ap.A1551TSubstitution - MissenseLarge_intestine
COSM939511c.4143T>Gp.T1381TSubstitution - coding silentEndometrium
COSM1512174c.820C>Tp.R274*Substitution - NonsenseBiliary_tract
COSM1318014c.193G>Tp.E65*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM358685c.2776G>Tp.V926LSubstitution - MissenseLung
COSM1245451c.3965delTp.I1322fs*9Deletion - FrameshiftOesophagus
COSM5019142c.4815C>Tp.G1605GSubstitution - coding silentSoft_tissue
COSM3986925c.2977A>Tp.T993SSubstitution - MissenseKidney
COSM1361681c.875delTp.L293fs*1Deletion - FrameshiftLarge_intestine
COSM1628602c.551C>Gp.S184*Substitution - NonsenseLiver
COSM2067836c.2802A>Gp.Q934QSubstitution - coding silentLarge_intestine
COSM1746979c.2337A>Tp.V779VSubstitution - coding silentUrinary_tract
COSM939507c.3352C>Tp.Q1118*Substitution - NonsenseEndometrium
COSM251395c.1716-2A>Gp.?UnknownLiver
COSM5990679c.1856C>Tp.T619ISubstitution - MissenseLiver
COSM268708c.3952C>Tp.Q1318*Substitution - NonsenseLarge_intestine
COSM1361684c.1331-1G>Ap.?UnknownLarge_intestine
COSM4575400c.4146C>Tp.S1382SSubstitution - coding silentBone
COSM2067812c.1592A>Gp.H531RSubstitution - MissenseUpper_aerodigestive_tract
COSM251412c.1073C>Gp.T358SSubstitution - MissenseLiver
COSM4950827c.2992G>Ap.G998RSubstitution - MissenseLiver
COSM5607879c.3196C>Tp.P1066SSubstitution - MissenseSkin
COSM1167951c.2611C>Tp.Q871*Substitution - NonsenseSkin
COSM5640852c.4005A>Gp.A1335ASubstitution - coding silentOesophagus
COSM939507c.3352C>Tp.Q1118*Substitution - NonsenseSkin
COSM5624231c.1719G>Ap.T573TSubstitution - coding silentOesophagus
COSM1168000c.3396T>Gp.S1132RSubstitution - MissenseSkin
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5878502c.1418C>Tp.S473FSubstitution - MissenseLiver
COSM3460982c.4685C>Tp.P1562LSubstitution - MissenseSkin
COSM265253c.854G>Ap.R285QSubstitution - MissensePancreas
COSM939504c.2591C>Tp.A864VSubstitution - MissenseEndometrium
COSM1628616c.5305C>Tp.R1769*Substitution - NonsenseSkin
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseUpper_aerodigestive_tract
COSM1628611c.4613delTp.I1538fs*28Deletion - FrameshiftLiver
COSM1245455c.1264C>Ap.L422ISubstitution - MissenseStomach
COSM3700280c.1951C>Tp.Q651*Substitution - NonsenseLiver
COSM4663265c.479A>Gp.K160RSubstitution - MissenseLarge_intestine
COSM1167994c.2128C>Tp.P710SSubstitution - MissenseSkin
COSM939498c.1344T>Cp.C448CSubstitution - coding silentEndometrium
COSM4575399c.121G>Cp.G41RSubstitution - MissenseBone
COSM4829498c.3926C>Gp.S1309*Substitution - NonsenseCervix
COSM1361680c.649delTp.S218fs*74Deletion - FrameshiftLarge_intestine
COSM3792598c.3528T>Cp.V1176VSubstitution - coding silentUrinary_tract
COSM355008c.4003G>Tp.A1335SSubstitution - MissenseLung
COSM5041485c.1023+2T>Gp.?UnknownLiver
COSM318772c.220G>Tp.E74*Substitution - NonsenseLiver
COSM1628614c.5260C>Tp.R1754*Substitution - NonsenseLiver
COSM166441c.4909C>Tp.Q1637*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM251395c.1716-2A>Gp.?UnknownLiver
COSM5882252c.3049C>Tp.H1017YSubstitution - MissenseSkin
COSM391816c.2983_2984insAp.S996fs*61Insertion - FrameshiftLung
COSM5024820c.3568G>Tp.G1190*Substitution - NonsenseLarge_intestine
COSM3724480c.1517C>Tp.A506VSubstitution - MissenseLarge_intestine
COSM218404c.940C>Ap.R314SSubstitution - MissensePancreas
COSM4399765c.1468C>Tp.Q490*Substitution - NonsenseSkin
COSM1731244c.4000G>Tp.G1334*Substitution - NonsenseLiver
COSM3384359c.3102A>Gp.Q1034QSubstitution - coding silentPancreas
COSM5473391c.3334C>Tp.Q1112*Substitution - NonsenseLarge_intestine
COSM4485215c.2909C>Tp.P970LSubstitution - MissenseSkin
COSM3359734c.899A>Tp.E300VSubstitution - MissenseKidney
COSM251411c.5174C>Gp.S1725*Substitution - NonsenseLiver
COSM1606133c.1037C>Tp.P346LSubstitution - MissenseLiver
COSM5494555c.5356_5363+1delGGTCGCAGGp.?UnknownBiliary_tract
COSM5451260c.1307T>Ap.I436NSubstitution - MissenseLarge_intestine
COSM251412c.1073C>Gp.T358SSubstitution - MissenseLiver
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseUpper_aerodigestive_tract
COSM4891346c.3818G>Ap.R1273QSubstitution - MissenseUpper_aerodigestive_tract
COSM1361700c.3438G>Ap.S1146SSubstitution - coding silentLarge_intestine
COSM4041984c.721G>Ap.V241ISubstitution - MissenseStomach
COSM1168752c.2814_2815insAp.Y939fs*12Insertion - FrameshiftPancreas
COSM3460969c.2173C>Tp.Q725*Substitution - NonsensePancreas
COSM3968226c.1126G>Ap.E376KSubstitution - MissenseCentral_nervous_system
COSM4595925c.3559G>Ap.V1187MSubstitution - MissenseUpper_aerodigestive_tract
COSM1245457c.3025G>Ap.V1009MSubstitution - MissenseOesophagus
COSM1159250c.1716-1G>Ap.?UnknownPancreas
COSM5048545c.580G>Cp.E194QSubstitution - MissenseOesophagus
COSM5551912c.728A>Gp.D243GSubstitution - MissenseProstate
COSM1628606c.1120G>Cp.G374RSubstitution - MissenseSkin
COSM4990226c.1562A>Cp.E521ASubstitution - MissenseSkin
COSM693906c.2101A>Tp.T701SSubstitution - MissenseLung
COSM1512174c.820C>Tp.R274*Substitution - NonsenseSkin
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM5375175c.1648C>Tp.L550FSubstitution - MissenseSkin
COSM5789495c.2921C>Tp.P974LSubstitution - MissenseBreast
COSM3460970c.2761C>Tp.P921SSubstitution - MissenseSkin
COSM1322501c.3817C>Ap.R1273RSubstitution - coding silentOvary
COSM693898c.4591C>Tp.P1531SSubstitution - MissenseLung
COSM4767428c.310C>Ap.H104NSubstitution - MissenseBiliary_tract
COSM939524c.4993G>Tp.G1665WSubstitution - MissenseEndometrium
COSM1645192c.2543_2544insTp.A849fs*102Insertion - FrameshiftLiver
COSM1606142c.3844G>Cp.D1282HSubstitution - MissenseLiver
COSM4997839c.2722_2731del10p.S908fs*16Deletion - FrameshiftPancreas
COSM1476565c.1653G>Ap.S551SSubstitution - coding silentLarge_intestine
COSM1705490c.1672C>Tp.R558CSubstitution - MissenseSkin
COSM3460973c.2952C>Tp.V984VSubstitution - coding silentSkin
COSM5451260c.1307T>Ap.I436NSubstitution - MissenseLarge_intestine
COSM3812050c.3931A>Gp.K1311ESubstitution - MissenseBreast
COSM468375c.678A>Gp.K226KSubstitution - coding silentKidney
COSM271715c.1552_1555delATAGp.D519fs*9Deletion - FrameshiftLarge_intestine
COSM939501c.1867C>Tp.R623CSubstitution - MissenseEndometrium
COSM3710884c.2110C>Tp.Q704*Substitution - NonsenseUpper_aerodigestive_tract
COSM3368819c.3091C>Tp.Q1031*Substitution - NonsenseThyroid
COSM5413317c.2350C>Tp.P784SSubstitution - MissenseSkin
COSM1705492c.4459C>Ap.P1487TSubstitution - MissenseSkin
COSM318773c.5183G>Cp.R1728TSubstitution - MissenseLung
COSM5809471c.1121-2A>Gp.?UnknownLiver
COSM5607882c.3023C>Tp.S1008FSubstitution - MissenseSkin
COSM5361289c.2607delTp.Q871fs*2Deletion - FrameshiftLarge_intestine
COSM1238223c.1787T>Cp.V596ASubstitution - MissenseOesophagus
COSM939508c.3482C>Tp.A1161VSubstitution - MissenseEndometrium
COSM1686177c.2239C>Tp.H747YSubstitution - MissenseSkin
COSM1159250c.1716-1G>Ap.?UnknownLarge_intestine
COSM4888189c.5397G>Tp.V1799VSubstitution - coding silentUpper_aerodigestive_tract
COSM939497c.1169T>Ap.L390*Substitution - NonsenseEndometrium
COSM1299386c.5203A>Tp.N1735YSubstitution - MissenseUrinary_tract
COSM3724479c.73C>Tp.Q25*Substitution - NonsenseLarge_intestine
COSM1167929c.2872C>Tp.Q958*Substitution - NonsenseSkin
COSM5725619c.992G>Ap.G331DSubstitution - MissenseSkin
COSM1361702c.3806C>Tp.P1269LSubstitution - MissenseOesophagus
COSM2067871c.4819C>Tp.P1607SSubstitution - MissenseLarge_intestine
COSM1676889c.1006G>Tp.G336*Substitution - NonsenseLarge_intestine
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseOesophagus
COSM3710883c.723T>Cp.V241VSubstitution - coding silentUpper_aerodigestive_tract
COSM3384361c.4207C>Tp.Q1403*Substitution - NonsensePancreas
COSM693899c.4391G>Ap.R1464HSubstitution - MissenseLung
COSM4990225c.797G>Ap.W266*Substitution - NonsenseSkin
COSM1606144c.4427C>Tp.S1476FSubstitution - MissenseLiver
COSM5361621c.246T>Cp.C82CSubstitution - coding silentLarge_intestine
COSM459508c.595A>Gp.I199VSubstitution - MissenseCervix
COSM3460977c.4096A>Tp.K1366*Substitution - NonsenseSkin
COSM4950827c.2992G>Ap.G998RSubstitution - MissenseLiver
COSM5702939c.3985G>Ap.E1329KSubstitution - MissenseAutonomic_ganglia
COSM3968227c.1135G>Cp.G379RSubstitution - MissenseCentral_nervous_system
COSM1746977c.103A>Tp.K35*Substitution - NonsenseUrinary_tract
COSM3704145c.1691C>Tp.S564LSubstitution - MissenseLiver
COSM1183567c.2495C>Ap.S832*Substitution - NonsenseLarge_intestine
COSM5794111c.3500C>Tp.T1167ISubstitution - MissenseBreast
COSM939494c.586G>Tp.D196YSubstitution - MissenseBreast
COSM1606132c.953delTp.S319fs*9Deletion - FrameshiftLiver
COSM4777221c.733G>Tp.E245*Substitution - NonsenseBreast
COSM5473390c.2775C>Tp.S925SSubstitution - coding silentLarge_intestine
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM5704455c.5046_5047delTAp.I1683fs*6Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5922947c.3161C>Tp.S1054FSubstitution - MissenseSkin
COSM5348620c.4609_4610insAp.R1537fs*7Insertion - FrameshiftLiver
COSM5611229c.294_295AA>TTp.E98_K99>D*Complex - compound substitutionSkin
COSM3700281c.5435C>Gp.A1812GSubstitution - MissenseLiver
COSM5346261c.594A>Tp.K198NSubstitution - MissenseUrinary_tract
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1746978c.1062G>Ap.L354LSubstitution - coding silentUrinary_tract
COSM6008924c.847G>Ap.G283RSubstitution - MissenseLarge_intestine
COSM5346433c.597C>Tp.I199ISubstitution - coding silentUrinary_tract
COSM1245453c.2500C>Tp.Q834*Substitution - NonsenseOesophagus
COSM939506c.2969C>Tp.S990LSubstitution - MissenseSkin
COSM4663272c.3831C>Tp.N1277NSubstitution - coding silentLarge_intestine
COSM4152822c.1308T>Ap.I436ISubstitution - coding silentKidney
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseUpper_aerodigestive_tract
COSM231543c.2872_2873insAp.T959fs*9Insertion - FrameshiftSkin
COSM939503c.2220G>Cp.Q740HSubstitution - MissenseEndometrium
COSM318772c.220G>Tp.E74*Substitution - NonsenseLiver
COSM218404c.940C>Ap.R314SSubstitution - MissensePancreas
COSM3460988c.5431C>Tp.L1811FSubstitution - MissenseSkin
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseUpper_aerodigestive_tract
COSM5724968c.4795C>Tp.P1599SSubstitution - MissenseSkin
COSM1606147c.4878delAp.K1627fs*74Deletion - FrameshiftLiver
COSM5494554c.1985_1986insTTp.T663fs*1Insertion - FrameshiftBiliary_tract
COSM939510c.4052G>Tp.S1351ISubstitution - MissenseEndometrium
COSM1299385c.3617C>Tp.T1206MSubstitution - MissenseUrinary_tract
COSM217018c.2134G>Tp.E712*Substitution - NonsenseLiver
COSM1606144c.4427C>Tp.S1476FSubstitution - MissenseLiver
COSM5348215c.867delTp.I289fs*3Deletion - FrameshiftLiver
COSM5490587c.1580+1G>Tp.?UnknownBiliary_tract
COSM4822928c.5230C>Ap.L1744MSubstitution - MissenseCervix
COSM939511c.4143T>Gp.T1381TSubstitution - coding silentStomach
COSM2067865c.4384C>Tp.Q1462*Substitution - NonsenseBiliary_tract
COSM939528c.5487A>Cp.K1829NSubstitution - MissenseEndometrium
COSM1361700c.3438G>Ap.S1146SSubstitution - coding silentStomach
COSM5346260c.593A>Tp.K198ISubstitution - MissenseUrinary_tract
COSM5734841c.76delTp.F26fs*32Deletion - FrameshiftPancreas
COSM3871643c.3778G>Tp.E1260*Substitution - NonsenseSkin
COSM1159250c.1716-1G>Ap.?UnknownPancreas
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseUpper_aerodigestive_tract
COSM3871641c.1972C>Tp.Q658*Substitution - NonsenseSkin
COSM5620310c.3033G>Tp.R1011SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3720868c.1419C>Tp.S473SSubstitution - coding silentUpper_aerodigestive_tract
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM328673c.1607_1608delCAp.P536fs*12Deletion - FrameshiftLiver
COSM3724483c.4111C>Tp.H1371YSubstitution - MissenseLarge_intestine
COSM3812049c.3877C>Ap.L1293ISubstitution - MissenseBreast
COSM5724968c.4795C>Tp.P1599SSubstitution - MissenseSkin
COSM251395c.1716-2A>Gp.?UnknownLiver
COSM1167994c.2128C>Tp.P710SSubstitution - MissenseSkin
COSM431129c.3953_3954insGp.C1319fs*6Insertion - FrameshiftBreast
COSM98118c.2710C>Tp.Q904*Substitution - NonsenseUpper_aerodigestive_tract
COSM73729c.3496G>Cp.G1166RSubstitution - MissenseOvary
COSM957512c.772_772+20del21p.?UnknownLung
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseSkin
COSM147485c.285T>Cp.R95RSubstitution - coding silentStomach
COSM4423034c.1715G>Tp.R572ISubstitution - MissenseCentral_nervous_system
COSM4166788c.3540G>Ap.T1180TSubstitution - coding silentPituitary
COSM3704150c.5188C>Tp.Q1730*Substitution - NonsenseLiver
COSM159179c.4858C>Tp.Q1620*Substitution - NonsenseBreast
COSM1562099c.15G>Ap.T5TSubstitution - coding silentLarge_intestine
COSM3368818c.222A>Gp.E74ESubstitution - coding silentThyroid
COSM4136197c.1024-2A>Cp.?UnknownPancreas
COSM4421146c.1979C>Ap.S660*Substitution - NonsensePleura
COSM5945893c.3217C>Gp.P1073ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3460987c.5380G>Tp.E1794*Substitution - NonsenseSkin
COSM5413318c.2879T>Cp.V960ASubstitution - MissenseSkin
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM4041985c.928C>Tp.R310CSubstitution - MissenseStomach
COSM4041990c.3149G>Cp.G1050ASubstitution - MissenseStomach
COSM3724482c.3065_3065delCp.P1022fs*38Deletion - FrameshiftLarge_intestine
COSM1361688c.1616C>Ap.S539YSubstitution - MissenseLarge_intestine
COSM693900c.3629T>Cp.V1210ASubstitution - MissenseLung
COSM3704144c.961C>Tp.H321YSubstitution - MissenseLiver
COSM1628614c.5260C>Tp.R1754*Substitution - NonsenseLiver
COSM1606131c.799G>Tp.E267*Substitution - NonsenseBiliary_tract
COSM4966894c.60G>Ap.L20LSubstitution - coding silentProstate
COSM5375177c.3964A>Tp.I1322FSubstitution - MissenseSkin
COSM3780983c.1405G>Tp.E469*Substitution - NonsensePancreas
COSM1240860c.205_206insGp.E71fs*4Insertion - FrameshiftOesophagus
COSM5990676c.1073C>Tp.T358ISubstitution - MissenseLiver
COSM5413320c.4252G>Tp.G1418*Substitution - NonsenseSkin
COSM243050c.939T>Ap.L313LSubstitution - coding silentProstate
COSM957508c.4270G>Tp.G1424CSubstitution - MissenseLung
COSM4496809c.4831C>Tp.Q1611*Substitution - NonsenseSkin
COSM4747147c.3256delCp.P1087fs*69Deletion - FrameshiftStomach
COSM5970702c.5232G>Cp.L1744LSubstitution - coding silentUpper_aerodigestive_tract
COSM278971c.940C>Tp.R314CSubstitution - MissenseLarge_intestine
COSM159177c.3859G>Ap.E1287KSubstitution - MissenseBreast
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM4041992c.3814C>Tp.R1272*Substitution - NonsenseStomach
COSM4829488c.4174C>Gp.P1392ASubstitution - MissenseCervix
COSM4951170c.3543_3544insTp.A1183fs*58Insertion - FrameshiftLiver
COSM1183568c.4196T>Gp.L1399*Substitution - NonsenseLarge_intestine
COSM2067795c.994C>Tp.L332FSubstitution - MissenseSkin
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM131488c.1177G>Tp.E393*Substitution - NonsenseLiver
COSM5794302c.1115T>Cp.M372TSubstitution - MissenseBreast
COSM5985331c.4565C>Gp.T1522SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM431130c.4022C>Gp.S1341*Substitution - NonsenseBreast
COSM2156322c.4016_4017delAGp.N1340fs*12Deletion - FrameshiftCentral_nervous_system
COSM4593385c.4663G>Tp.A1555SSubstitution - MissenseUpper_aerodigestive_tract
COSM307378c.4720G>Tp.V1574FSubstitution - MissenseKidney
COSM5704452c.271C>Tp.Q91*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM693914c.155C>Tp.T52ISubstitution - MissenseBreast
COSM5946922c.2187T>Cp.P729PSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM468376c.3795C>Ap.V1265VSubstitution - coding silentKidney
COSM4950102c.2717_2718insTp.S907fs*44Insertion - FrameshiftLiver
COSM69715c.740G>Ap.R247HSubstitution - MissenseOvary
COSM1606150c.5110G>Tp.E1704*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM3739671c.2877A>Tp.T959TSubstitution - coding silentLiver
COSM1512173c.1426C>Tp.Q476*Substitution - NonsenseBiliary_tract
COSM358686c.3734A>Gp.Q1245RSubstitution - MissenseLung
COSM693911c.493C>Tp.L165LSubstitution - coding silentLung
COSM5990078c.914delTp.L305fs*23Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM77289c.2296C>Tp.P766SSubstitution - MissenseOvary
COSM131488c.1177G>Tp.E393*Substitution - NonsenseLiver
COSM1361700c.3438G>Ap.S1146SSubstitution - coding silentSkin
COSM939514c.4582G>Ap.A1528TSubstitution - MissenseEndometrium
COSM5790170c.265T>Ap.L89ISubstitution - MissenseBreast
COSM3704147c.3648G>Ap.T1216TSubstitution - coding silentLiver
COSM3460959c.284+1G>Ap.?UnknownSkin
COSM1183572c.881G>Tp.R294ISubstitution - MissenseSkin
COSM306815c.4573_4576GAAA>GAAp.E1525fsComplexCentral_nervous_system
COSM1734595c.1259A>Tp.E420VSubstitution - MissensePancreas
COSM318772c.220G>Tp.E74*Substitution - NonsenseLung
COSM939505c.2740C>Tp.P914SSubstitution - MissenseEndometrium
COSM166441c.4909C>Tp.Q1637*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM107635c.3127C>Tp.Q1043*Substitution - NonsenseSkin
COSM5347579c.1576_1580+2delCAGTGGTp.?UnknownLiver
COSM1167993c.3937C>Tp.Q1313*Substitution - NonsenseUpper_aerodigestive_tract
COSM4496809c.4831C>Tp.Q1611*Substitution - NonsenseBiliary_tract
COSM5811635c.5343A>Gp.K1781KSubstitution - coding silentLiver
COSM251411c.5174C>Gp.S1725*Substitution - NonsenseLiver
COSM939506c.2969C>Tp.S990LSubstitution - MissenseBiliary_tract
COSM4420879c.5459T>Gp.F1820CSubstitution - MissenseProstate
COSM4888553c.1186G>Cp.D396HSubstitution - MissenseUpper_aerodigestive_tract
COSM4633663c.478A>Gp.K160ESubstitution - MissenseLarge_intestine
COSM1167955c.2680C>Tp.Q894*Substitution - NonsenseSkin
COSM159177c.3859G>Ap.E1287KSubstitution - MissenseSalivary_gland
COSM1628610c.1928C>Ap.S643*Substitution - NonsenseLiver
COSM957511c.3985G>Tp.E1329*Substitution - NonsenseLung
COSM4041986c.1100A>Tp.D367VSubstitution - MissenseStomach
COSM3704145c.1691C>Tp.S564LSubstitution - MissenseLiver
COSM5413317c.2350C>Tp.P784SSubstitution - MissenseSkin
COSM1512173c.1426C>Tp.Q476*Substitution - NonsenseSkin
COSM4949469c.3277C>Tp.P1093SSubstitution - MissenseLiver
COSM4041983c.716A>Tp.D239VSubstitution - MissenseStomach
COSM1361696c.3201A>Gp.K1067KSubstitution - coding silentLarge_intestine
COSM131489c.2947C>Tp.Q983*Substitution - NonsenseBiliary_tract
COSM939493c.371T>Gp.I124SSubstitution - MissenseEndometrium
COSM5584491c.3916C>Tp.P1306SSubstitution - MissenseSkin
COSM3460975c.3536A>Tp.N1179ISubstitution - MissenseSkin
COSM3665404c.4398_4416del19p.V1467fs*12Deletion - FrameshiftLiver
COSM1245456c.2110C>Gp.Q704ESubstitution - MissenseStomach
COSM939500c.1638T>Gp.Y546*Substitution - NonsenseEndometrium
COSM5051595c.2170delCp.Q725fs*33Deletion - FrameshiftStomach
COSM693898c.4591C>Tp.P1531SSubstitution - MissenseSkin
COSM1676888c.551C>Ap.S184*Substitution - NonsenseLarge_intestine
COSM5607877c.4079G>Ap.G1360ESubstitution - MissenseSkin
COSM131488c.1177G>Tp.E393*Substitution - NonsenseLung
COSM4949785c.1574_1580delGTCAGTGp.Q526fs*1Deletion - FrameshiftLiver
COSM5584491c.3916C>Tp.P1306SSubstitution - MissenseSkin
COSM5548899c.5318C>Tp.A1773VSubstitution - MissenseProstate
COSM117869c.3430C>Tp.P1144SSubstitution - MissenseOvary
COSM4487595c.3208C>Tp.P1070SSubstitution - MissenseSkin
COSM1686178c.4039C>Tp.Q1347*Substitution - NonsenseSkin
COSM5451260c.1307T>Ap.I436NSubstitution - MissenseLarge_intestine
COSM3460976c.3580C>Tp.Q1194*Substitution - NonsenseSkin
COSM4449807c.3374delAp.N1126fs*30Deletion - FrameshiftSkin
COSM5762135c.1580+1G>Ap.?UnknownPancreas
COSM265253c.854G>Ap.R285QSubstitution - MissenseSkin
COSM693905c.2250G>Tp.G750GSubstitution - coding silentLung
COSM4041987c.1189C>Tp.Q397*Substitution - NonsenseStomach
COSM4663271c.3453G>Ap.L1151LSubstitution - coding silentLarge_intestine
COSM265253c.854G>Ap.R285QSubstitution - MissenseLarge_intestine
COSM4747142c.527_546del20p.N178fs*2Deletion - FrameshiftStomach
COSM1666113c.5237G>Ap.R1746KSubstitution - MissenseEye
COSM4951261c.1080_1081insAp.C362fs*7Insertion - FrameshiftLiver
COSM3460962c.699C>Tp.F233FSubstitution - coding silentStomach
COSM251412c.1073C>Gp.T358SSubstitution - MissenseLiver
COSM5966153c.2764A>Gp.T922ASubstitution - MissenseAdrenal_gland
COSM5346770c.596T>Cp.I199TSubstitution - MissenseUrinary_tract
COSM251369c.1507_1508insAGp.A503fs*4Insertion - FrameshiftLiver
COSM265253c.854G>Ap.R285QSubstitution - MissenseLarge_intestine
COSM4041981c.535G>Ap.V179ISubstitution - MissenseStomach
COSM1705491c.3298C>Tp.Q1100*Substitution - NonsenseLiver
COSM4041982c.620C>Tp.A207VSubstitution - MissenseStomach
COSM1628617c.5328delAp.N1778fs*13Deletion - FrameshiftLiver
COSM1167993c.3937C>Tp.Q1313*Substitution - NonsenseSkin
COSM1628608c.1298G>Tp.C433FSubstitution - MissenseLiver
COSM3460963c.811C>Tp.H271YSubstitution - MissenseSkin
COSM1628614c.5260C>Tp.R1754*Substitution - NonsenseUpper_aerodigestive_tract
COSM1727114c.1837C>Tp.Q613*Substitution - NonsenseLiver
COSM3724481c.5333_5333delAp.N1778fs*13Deletion - FrameshiftLarge_intestine
COSM2067837c.2809C>Tp.Q937*Substitution - NonsenseBiliary_tract
COSM1606146c.4508delTp.R1504fs*12Deletion - FrameshiftLiver
COSM1628604c.1056T>Cp.T352TSubstitution - coding silentLiver
COSM1606135c.1231G>Tp.D411YSubstitution - MissenseLiver
COSM4824190c.1250C>Tp.S417LSubstitution - MissenseCervix
COSM3416865c.4241G>Tp.R1414ISubstitution - MissenseLarge_intestine
COSM1606140c.3474delTp.N1158fs*15Deletion - FrameshiftLiver
COSM5952473c.5029C>Tp.R1677*Substitution - NonsenseOesophagus
COSM3718750c.2169_2170insCp.Q725fs*7Insertion - FrameshiftUpper_aerodigestive_tract
COSM3460974c.3121C>Tp.Q1041*Substitution - NonsenseSkin
COSM3935951c.4644C>Tp.G1548GSubstitution - coding silentOesophagus
COSM5027578c.2224_2225delTCp.S742fs*6Deletion - FrameshiftBreast
COSM3460967c.1825C>Tp.Q609*Substitution - NonsenseSkin
COSM2067851c.3470C>Tp.S1157LSubstitution - MissenseSkin
COSM1606149c.5001T>Gp.C1667WSubstitution - MissenseLiver
COSM5548899c.5318C>Tp.A1773VSubstitution - MissenseProstate
COSM1606142c.3844G>Cp.D1282HSubstitution - MissenseLiver
COSM266035c.925A>Gp.N309DSubstitution - MissenseLarge_intestine
COSM1746977c.103A>Tp.K35*Substitution - NonsenseUrinary_tract
COSM1606138c.2865delAp.A956fs*7Deletion - FrameshiftLiver
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseLiver
COSM1183570c.1330G>Tp.D444YSubstitution - MissenseLarge_intestine
COSM1167993c.3937C>Tp.Q1313*Substitution - NonsenseUpper_aerodigestive_tract
COSM1705491c.3298C>Tp.Q1100*Substitution - NonsenseLiver
COSM693907c.1868G>Tp.R623LSubstitution - MissenseLung
COSM4754287c.1337T>Ap.L446*Substitution - NonsenseStomach
COSM939489c.211G>Tp.E71*Substitution - NonsenseLarge_intestine
COSM1685690c.4463_4475del13p.D1488fs*24Deletion - FrameshiftSkin
COSM5985330c.2939C>Gp.T980SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM251395c.1716-2A>Gp.?UnknownLiver
COSM265477c.520G>Tp.D174YSubstitution - MissenseLarge_intestine
COSM348671c.706-1G>Tp.?UnknownLung
COSM1245452c.102_103insAp.I37fs*29Insertion - FrameshiftOesophagus
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseUpper_aerodigestive_tract
COSM290981c.3612C>Tp.S1204SSubstitution - coding silentLarge_intestine
COSM1183572c.881G>Tp.R294ISubstitution - MissenseSkin
COSM1361695c.2864C>Tp.P955LSubstitution - MissenseLarge_intestine
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM189021c.853C>Tp.R285WSubstitution - MissensePancreas
COSM1606131c.799G>Tp.E267*Substitution - NonsenseLiver
COSM3460972c.2890G>Tp.G964*Substitution - NonsenseSkin
COSM5990678c.1519C>Tp.Q507*Substitution - NonsenseLiver
COSM5414588c.739C>Tp.R247CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM957510c.3596C>Tp.A1199VSubstitution - MissenseLung
COSM1167927c.3493C>Tp.Q1165*Substitution - NonsenseSkin
COSM4771207c.2086C>Tp.Q696*Substitution - NonsensePleura
COSM251424c.1802G>Ap.R601QSubstitution - MissenseLiver
COSM2067821c.1900C>Gp.P634ASubstitution - MissenseSkin
COSM4949786c.4031_4032ins68p.I1344fs*5Insertion - FrameshiftLiver
COSM3986926c.3010A>Tp.S1004CSubstitution - MissenseKidney
COSM693908c.1561G>Tp.E521*Substitution - NonsenseLung
COSM268707c.521A>Gp.D174GSubstitution - MissenseLarge_intestine
COSM5794111c.3500C>Tp.T1167ISubstitution - MissenseBreast
COSM1361702c.3806C>Tp.P1269LSubstitution - MissenseLarge_intestine
COSM3359735c.963T>Cp.H321HSubstitution - coding silentKidney
COSM5413321c.5065A>Tp.K1689*Substitution - NonsenseSkin
COSM3384358c.1715+5G>Cp.?UnknownPancreas
COSM3416864c.4068G>Ap.P1356PSubstitution - coding silentLarge_intestine
COSM4927869c.1086T>Cp.C362CSubstitution - coding silentLiver
COSM5347581c.5391_5392delATp.L1797fs*6Deletion - FrameshiftLiver
COSM3376252c.588T>Cp.D196DSubstitution - coding silentPancreas
COSM106761c.430C>Tp.Q144*Substitution - NonsenseBreast
COSM3416863c.4017G>Tp.Q1339HSubstitution - MissenseLarge_intestine
COSM5958890c.1211delTp.C405fs*11Deletion - FrameshiftThyroid
COSM131034c.4065delAp.K1355fs*3Deletion - FrameshiftLiver
COSM306815c.4573_4576GAAA>GAAp.E1525fsComplexCentral_nervous_system
COSM1705491c.3298C>Tp.Q1100*Substitution - NonsenseSkin
COSM5039695c.3458G>Ap.G1153DSubstitution - MissenseLiver
COSM3665403c.2292_2313del22p.H765fs*20Deletion - FrameshiftLiver
COSM5878503c.2324T>Ap.L775*Substitution - NonsenseLiver
COSM3460960c.366T>Gp.L122LSubstitution - coding silentSkin
COSM5346771c.604T>Cp.L202LSubstitution - coding silentUrinary_tract
COSM3368819c.3091C>Tp.Q1031*Substitution - NonsenseBiliary_tract
COSM4990227c.1581-1G>Ap.?UnknownSkin
COSM1676888c.551C>Ap.S184*Substitution - NonsenseLarge_intestine
COSM5980283c.3389T>Cp.V1130ASubstitution - MissenseUpper_aerodigestive_tract
COSM1159250c.1716-1G>Ap.?UnknownPancreas
COSM6008926c.3739G>Cp.E1247QSubstitution - MissenseLarge_intestine
COSM347002c.700G>Ap.V234ISubstitution - MissenseLung
COSM379857c.1719G>Tp.T573TSubstitution - coding silentLung
COSM5985330c.2939C>Gp.T980SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM139956c.1499-1G>Ap.?UnknownSkin
COSM4663268c.1795G>Ap.V599ISubstitution - MissenseLarge_intestine
COSM6008962c.3754G>Tp.E1252*Substitution - NonsenseLarge_intestine
COSM1606150c.5110G>Tp.E1704*Substitution - NonsenseLiver
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1167930c.1758C>Tp.S586SSubstitution - coding silentSkin
COSM5964059c.5062-7C>Gp.?UnknownBreast
COSM2067866c.4390C>Tp.R1464CSubstitution - MissenseStomach
COSM4041989c.2649C>Gp.V883VSubstitution - coding silentStomach
COSM1361699c.3319G>Ap.A1107TSubstitution - MissenseLarge_intestine
COSM141377c.5272-1G>Ap.?UnknownUpper_aerodigestive_tract
COSM4041999c.5272-1G>Tp.?UnknownStomach
COSM251383c.3987_3988ins16p.L1330fs*3Insertion - FrameshiftLiver
COSM5951321c.284+4_284+5insTp.?UnknownOesophagus
COSM5882251c.3048A>Tp.Q1016HSubstitution - MissenseSkin
COSM189021c.853C>Tp.R285WSubstitution - MissenseLarge_intestine
COSM5878504c.1084_1110del27p.C362_L370delCLMSRDRFLDeletion - In frameLiver
COSM4951262c.4169_4170insTp.S1391fs*20Insertion - FrameshiftLiver
COSM3460981c.4509T>Gp.V1503VSubstitution - coding silentSkin
COSM5346192c.598A>Cp.I200LSubstitution - MissenseUrinary_tract
COSM1245458c.3445C>Tp.Q1149*Substitution - NonsenseOesophagus
COSM4444411c.2681A>Gp.Q894RSubstitution - MissenseLarge_intestine
COSM957513c.1_5508del5508p.0?Whole gene deletionLung
COSM131032c.2438delCp.S813fs*9Deletion - FrameshiftLiver
COSM217018c.2134G>Tp.E712*Substitution - NonsenseLiver
COSM4829498c.3926C>Gp.S1309*Substitution - NonsenseUpper_aerodigestive_tract
COSM5878500c.1120+5G>Cp.?UnknownLiver
COSM4951262c.4169_4170insTp.S1391fs*20Insertion - FrameshiftLiver
COSM3398729c.4043A>Tp.D1348VSubstitution - MissenseCentral_nervous_system
COSM3704147c.3648G>Ap.T1216TSubstitution - coding silentLiver
COSM4041995c.4511G>Ap.R1504QSubstitution - MissenseStomach
COSM5607881c.3431C>Tp.P1144LSubstitution - MissenseSkin
COSM1606136c.2392C>Tp.Q798*Substitution - NonsenseLiver
COSM1685689c.1651delTp.S551fs*6Deletion - FrameshiftSkin
COSM957509c.2833C>Tp.Q945*Substitution - NonsenseLung
COSM1606148c.4938C>Tp.P1646PSubstitution - coding silentLiver
COSM3954777c.400C>Tp.Q134*Substitution - NonsenseLung
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseCentral_nervous_system
COSM5413319c.3492C>Tp.F1164FSubstitution - coding silentSkin
COSM4747145c.1201_1202delAGp.E402fs*9Deletion - FrameshiftStomach
COSM1512174c.820C>Tp.R274*Substitution - NonsenseSkin
COSM5607880c.3912A>Tp.L1304LSubstitution - coding silentSkin
COSM2067871c.4819C>Tp.P1607SSubstitution - MissenseLarge_intestine
COSM3871644c.4487C>Tp.S1496FSubstitution - MissenseSkin
COSM3954778c.2310A>Tp.P770PSubstitution - coding silentLung
COSM6008957c.2377C>Tp.Q793*Substitution - NonsenseLarge_intestine
COSM1606131c.799G>Tp.E267*Substitution - NonsenseLiver
COSM1606145c.4427_4428insTp.V1477fs*26Insertion - FrameshiftLiver
COSM4949469c.3277C>Tp.P1093SSubstitution - MissenseLiver
COSM4921149c.4245T>Gp.I1415MSubstitution - MissenseLiver
COSM4951169c.5131C>Tp.Q1711*Substitution - NonsenseLiver
COSM4622623c.966T>Cp.S322SSubstitution - coding silentLarge_intestine
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM1728784c.1716-2A>Tp.?UnknownLiver
COSM328761c.2902A>Tp.I968LSubstitution - MissenseLiver
COSM1628614c.5260C>Tp.R1754*Substitution - NonsenseUpper_aerodigestive_tract
COSM1746980c.4531G>Tp.E1511*Substitution - NonsenseUrinary_tract
COSM1183569c.4510C>Tp.R1504WSubstitution - MissenseLarge_intestine
COSM4949470c.3276T>Ap.A1092ASubstitution - coding silentLiver
COSM4767424c.1715+1G>Ap.?UnknownBiliary_tract
COSM1676890c.2817T>Gp.Y939*Substitution - NonsenseCentral_nervous_system
COSM3739669c.1716-9A>Gp.?UnknownLiver
COSM1183572c.881G>Tp.R294ISubstitution - MissenseSkin
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM3384360c.3799G>Tp.E1267*Substitution - NonsensePancreas
COSM5640505c.4258G>Ap.V1420ISubstitution - MissenseOesophagus
COSM5640618c.4675G>Tp.G1559*Substitution - NonsenseOesophagus
COSM4754286c.1142T>Ap.L381HSubstitution - MissenseStomach
COSM2067869c.4444C>Tp.Q1482*Substitution - NonsenseStomach
COSM251411c.5174C>Gp.S1725*Substitution - NonsenseLiver
COSM5607883c.1209C>Tp.I403ISubstitution - coding silentSkin
COSM5725619c.992G>Ap.G331DSubstitution - MissenseSkin
COSM5913333c.2009C>Tp.P670LSubstitution - MissenseSkin
COSM5724968c.4795C>Tp.P1599SSubstitution - MissenseSkin
COSM5361289c.2607delTp.Q871fs*2Deletion - FrameshiftLarge_intestine
COSM4041980c.484G>Tp.V162LSubstitution - MissenseStomach
COSM4334453c.103delAp.I37fs*21Deletion - FrameshiftLarge_intestine
COSM131514c.5281G>Tp.E1761*Substitution - NonsenseLiver
COSM1628605c.1095delAp.R366fs*5Deletion - FrameshiftLiver
COSM1183570c.1330G>Tp.D444YSubstitution - MissenseLiver
COSM1167994c.2128C>Tp.P710SSubstitution - MissenseSkin
COSM1606134c.1125delGp.E376fs*15Deletion - FrameshiftLiver
COSM3986927c.5062-1G>Ap.?UnknownSkin
COSM4767424c.1715+1G>Ap.?UnknownBiliary_tract
COSM1628607c.1120+8T>Gp.?UnknownLiver
COSM4041993c.4328G>Ap.S1443NSubstitution - MissenseStomach
COSM3460985c.5042C>Tp.S1681FSubstitution - MissenseSkin
COSM939509c.3913C>Tp.P1305SSubstitution - MissenseEndometrium
COSM4663266c.666_668delAGAp.E224delEDeletion - In frameLarge_intestine
COSM3460969c.2173C>Tp.Q725*Substitution - NonsenseSkin
COSM251411c.5174C>Gp.S1725*Substitution - NonsenseLung
COSM73728c.2225C>Tp.S742FSubstitution - MissenseOvary
COSM1245454c.1624C>Tp.R542*Substitution - NonsenseLarge_intestine
COSM3710883c.723T>Cp.V241VSubstitution - coding silentUpper_aerodigestive_tract
COSM4419333c.597C>Gp.I199MSubstitution - MissenseProstate
COSM4663267c.1625G>Ap.R542QSubstitution - MissenseLarge_intestine
COSM5375178c.4562A>Gp.D1521GSubstitution - MissenseSkin
COSM3460961c.647C>Tp.S216FSubstitution - MissenseSkin
COSM5607876c.3597delAp.G1200fs*4Deletion - FrameshiftSkin
COSM1361683c.1277C>Tp.T426MSubstitution - MissenseLarge_intestine
COSM3704149c.4888C>Tp.Q1630*Substitution - NonsenseLiver
COSM4041991c.3286C>Tp.Q1096*Substitution - NonsenseStomach
COSM1299385c.3617C>Tp.T1206MSubstitution - MissenseStomach
COSM3710884c.2110C>Tp.Q704*Substitution - NonsenseUpper_aerodigestive_tract
COSM2067837c.2809C>Tp.Q937*Substitution - NonsenseSkin
COSM1512174c.820C>Tp.R274*Substitution - NonsenseSkin
COSM3704143c.266T>Gp.L89*Substitution - NonsenseLiver
COSM5348618c.2719_2720insTp.S907fs*44Insertion - FrameshiftLiver
COSM1606148c.4938C>Tp.P1646PSubstitution - coding silentLiver
COSM5763715c.3355C>Tp.Q1119*Substitution - NonsenseLarge_intestine
COSM1606143c.4190_4191insGACTp.L1399fs*13Insertion - FrameshiftLiver
COSM5348619c.3546_3547insTp.A1183fs*58Insertion - FrameshiftLiver
COSM5809471c.1121-2A>Gp.?UnknownLiver
COSM1245459c.3370C>Tp.Q1124*Substitution - NonsenseOesophagus
COSM2067824c.2014C>Tp.Q672*Substitution - NonsenseBiliary_tract
COSM1183570c.1330G>Tp.D444YSubstitution - MissenseLiver
COSM4884873c.2488C>Tp.Q830*Substitution - NonsenseUpper_aerodigestive_tract
COSM5878501c.1265T>Cp.L422PSubstitution - MissenseLiver
COSM1167955c.2680C>Tp.Q894*Substitution - NonsenseSkin
COSM4989699c.2833C>Ap.Q945KSubstitution - MissenseSoft_tissue
COSM278971c.940C>Tp.R314CSubstitution - MissenseSkin
COSM5935836c.2954C>Tp.P985LSubstitution - MissenseSkin
COSM1167994c.2128C>Tp.P710SSubstitution - MissenseSkin
COSM3460963c.811C>Tp.H271YSubstitution - MissenseSkin
COSM346353c.2140G>Tp.V714FSubstitution - MissenseLung
COSM1606141c.3817C>Tp.R1273*Substitution - NonsenseLiver
COSM1746978c.1062G>Ap.L354LSubstitution - coding silentUrinary_tract
COSM4041988c.1547T>Cp.V516ASubstitution - MissenseStomach
COSM5739622c.4084T>Cp.C1362RSubstitution - MissenseSmall_intestine
COSM2067831c.2404T>Cp.F802LSubstitution - MissenseLarge_intestine
COSM1628615c.5269A>Gp.T1757ASubstitution - MissenseLiver
COSM1606130c.81delCp.H28fs*30Deletion - FrameshiftLiver
COSM939496c.821G>Ap.R274QSubstitution - MissenseEndometrium
COSM3871642c.2567C>Tp.T856ISubstitution - MissenseSkin
COSM1167991c.890C>Tp.S297FSubstitution - MissenseSkin
COSM3376253c.3095A>Gp.Q1032RSubstitution - MissensePancreas
COSM5490622c.4466C>Gp.S1489*Substitution - NonsenseBiliary_tract
COSM1628617c.5328delAp.N1778fs*13Deletion - FrameshiftLarge_intestine
COSM131531c.93-1G>Ap.?UnknownLiver
COSM693910c.1119A>Cp.R373SSubstitution - MissenseLung
COSM5814687c.783A>Tp.S261SSubstitution - coding silentLiver
COSM1645192c.2543_2544insTp.A849fs*102Insertion - FrameshiftLiver
COSM1606137c.2542_2543insTp.A849fs*102Insertion - FrameshiftLiver
> Text Mining based Variations
 
PMID Variation Cancer Evidence
27270314mutationGastric AdenocarcinomaFive genes (TP53, BAI1, THSD1, ARID2, and KIAA2022) verified in our study were also mutated at a frequency greater than 5%in the COSMIC database
27175599mutationGastric AdenomaAll MSS gastric adenomas also harbored ARID2 truncating mutations, often as multiple, region-specific ones indicative of convergent evolution
27050151mutationOral Cavity Squamous Cell CarcinomaNotably, we identified mutations (MLL4, USP9X, ARID2) in cell lines derived from betel quid users that may be associated with this specific risk factor
26998897mutationDuodenal AdenocarcinomaThe authors identified recurrent mutations in tumor protein p53 (TP53), KRAS, catenin (cadherin-associated protein) β-1 (CTNNB1), AT-rich interactive domain 2 (ARID2), adenomatous polyposis coli (APC), erb-b2 receptor tyrosine kinase 2 (ERBB2), ARID1A, cadherin-related family member 1 (CDHR1), NRAS, Bcl-2-related ovarian killer (BOK), radial spoke head 14 homolog (chlamydomonas) (RTDR1), cell division cycle 27 (CDC27), catalytic subunit of phosphoinositide-3-kinase (PIK3CA), and SMAD family member 4 (SMAD4)
26920370mutationMalignant Ovarian NeoplasmOther recurrently mutated genes included ETS1, MLH1, PRKDC (3/10 each), and AMER1, ARID2, BCL11A, CREBBP, ERBB2, EXT1, FANCD2, MSH6, NF1, NOTCH1, NUMA1, PDE4DIP, PPP2R1A, RNF213, and SYNE1 (2/10 each).
26284269mutationHepatocellular CarcinomaARID2 (ARID2), CTNNB1 (β catenin), tumor protein 53 (p53), and PIK3CA (p110α) mutations are implicated in hepatocellular carcinoma (HCC); and previous work has contributed to thorough molecular characterization of these events; Furthermore, we found that loss of ARID2 protein expression may be associated with recurrence, although further studies must be done to validate these findings in a larger population
26099527mutationHepatocellular CarcinomaTP53 and CTNNB1 are the next most prevalent mutations, affecting 25%-30% of HCC patients, that, in addition to low-frequency mutated genes (eg, AXIN1, ARID2, ARID1A, TSC1/TSC2, RPS6KA3, KEAP1, MLL2), help define some of the core deregulated pathways in HCC
25790038mutationPapillary Renal Cell CarcinomaWe identify BAP1, SETD2, ARID2 and Nrf2 pathway genes (KEAP1, NHE2L2 and CUL3) as probable drivers, together with at least eight other possible drivers; However, only ~10% of tumours harbour detectable pathogenic changes in any one driver gene, and where present, the mutations are often predicted to be present within cancer sub-clones
25393105mutationMelanomaExtension studies using tumors from another 96 patients discovered a large number of truncation mutations in tumor suppressors (TP53 and RB1), protein phosphatases (e.g., PTEN, PTPRB, PTPRD, and PTPRT), as well as chromatin remodeling genes (e.g., ASXL3, MLL2, and ARID2)
25159915mutationHepatocellular CarcinomaLower frequency mutations have been reported in ARID1A, ARID2 and JAK1
24379610mutationHepatocellular CarcinomaHigh-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST
24292195mutationGingivo-buccal Oral Squamous Cell CarcinomaExome sequencing (n=50) and recurrence testing (n=60) reveals that some significantly and frequently altered genes are specific to OSCC-GB (USP9X, MLL4, ARID2, UNC13C and TRPM3), while some others are shared with HNSCC (for example, TP53, FAT1, CASP8, HRAS and NOTCH1).
23103869mutationPancreatic CarcinomaWe define 16 significantly mutated genes, reaffirming known mutations (KRAS, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1), and uncover novel mutated genes including additional genes involved in chromatin modification (EPC1 and ARID2), DNA damage repair (ATM) and other mechanisms (ZIM2, MAP2K4, NALCN, SLC16A4 and MAGEA6).
23047306mutation (loss of function)Non-Small Cell Lung CarcinomaRecurrent inactivating mutations of ARID2 in non-small cell lung carcinoma.
22817889mutationMelanomaAnalysis of large-scale melanoma exome data by this approach discovered six novel melanoma genes (PPP6C, RAC1, SNX31, TACC1, STK19, and ARID2), three of which-RAC1, PPP6C, and STK19-harbored recurrent and potentially targetable mutations
22095441mutation (loss of function)Hepatocellular CarcinomaOur recent work described novel inactivating mutations of ARID2 (AT-rich interactive domain 2) in four major subtypes of HCC through exomic sequencing of ten HCV-associated HCCs and subsequent evaluation of the tumors from additional affected individuals
21822264mutation (loss of function)Hepatocellular CarcinomaNotably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype.
22634756mutationHepatocellular CarcinomaMultiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors
24382590mutation (loss of function)Colorectal CarcinomaExome sequencing reveals frequent inactivating mutations in ARID1A, ARID1B, ARID2 and ARID4A in microsatellite unstable colorectal cancer
24916674mutationMalignant MesotheliomaDirect sequencing showed that homozygous mutations in SMARCA4, PBRM1 and ARID2 were somatic
25370573mutationLung CarcinomaSpecifically, the mutant-typing of 6 BAF genes, SMARCA4, ARID2, ARID1B, BCL11A, BCL11B and BRD9 was associated with more overall mutations in the lung carcinoma samples
25636086mutationLiver Cancer Displaying Biliary PhenotypeThe subsequent validation study on 68 LCBs identified recurrent mutations in TERT promoter, chromatin regulators (BAP1, PBRM1 and ARID2), a synapse organization gene (PCLO), IDH genes and KRAS
26221190mutationMelanomaOf the 40 most commonly mutated genes, 12 (30.0%) encoded epigenetic regulators, including genes encoding enzymes involved in histone modification (MECOM, MLL2, SETD2), chromatin remodeling (ARID1B, ARID2), and DNA methylation and demethylation (TET2, IDH1)
26812616mutationEsophageal Squamous Cell CarcinomaDeep sequencing of components of the SWI/SNF complex using a bench-top next generation sequencer revealed that eight of 92 ESCCs (8.7%) had 11 somatic mutations of 7 genes, ARID1A, ARID2, ATRX, PBRM1, SMARCA4, SMARCAL1, and SMARCC1.
28648284mutationIntrahepatic Cholangiocarcinoma; Hepatocellular CarcinomaWhile ICC and HCC share recurrently mutated genes, including TP53, ARID1A, and ARID2, mitotic checkpoint anomalies distinguish the C1 subtype with key drivers PLK1 and ECT2, whereas the C2 subtype is linked to obesity, Tcell infiltration, and bile acid metabolism.
28529542mutationHepatocellular CarcinomaNucleotide changes in coding regions (i.e. TP53, CTNNB1, ARID1A and ARID2) as well as in non-coding regions (i.e. TERT promoter) are considered cancer drivers for HCC development with variable frequencies in different geographic regions depending on the etiology and environmental factors.
28210865mutationMelanomaApart from mutated BRAF, NRAS, and KIT, a series of new recurrently mutated candidate genes with impact on signaling pathways have been identified such as NF1, PTEN, IDH1, RAC1, ARID2, and TP53.
28179590mutationColon AdenomaWe identified MTOR, ACVR1B, GNAQ, ATM, CNOT1, EP300, ARID2, RET and MAP2K4 mutations for the first time in colon adenomas.
27834349mutationAtypical Verruciform LesionEight (73%) and six (55%) of eleven atypical verruciform lesions contained mutations in PIK3CA and ARID2, respectively.
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Post-translational modification (PTM)
> Post-translational modification (PTM)
 
 Filter By:
Uniprot ID Position Amino Acid Description Upstream Enzyme Affected By Mutation Amino Acid Sequence Variant
Q68CP94SPhosphoserine-NoNone detected
Q68CP9631SPhosphoserine-NoNone detected
Q68CP9635SPhosphoserine-NoNone detected
Q68CP9653TPhosphothreonine-NoNone detected
Q68CP9689SPhosphoserine-NoNone detected
Q68CP9692TPhosphothreonine-NoNone detected
Q68CP91300SPhosphoserine-NoNone detected
Q68CP91391SPhosphoserine-NoNone detected
Q68CP91496SPhosphoserine-Yesp.S1496F (cancer: SKCM)
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Expression analysis in primary tumor tissue from TCGA
> Expression level in cancer cell line from CCLE
> Expression level in human normal tissue from HPA
> Text mining based expression change
> The Cancer Genome Atlas (TCGA)
 


  Differential expression analysis for cancers with more than 10 normal samples
Cancer Full Name # N # T Median (N) Median (T) LogFC Adj. P Status
BLCABladder urothelial carcinoma194084.9664.933-0.0560.768NS
BRCABreast invasive carcinoma11211005.6075.7580.1590.0209NS
CESCCervical and endocervical cancers33064.7465.15NANANA
COADColon adenocarcinoma414594.9354.834-0.1070.198NS
ESCAEsophageal carcinoma111856.0725.885-0.1720.412NS
GBMGlioblastoma multiforme51664.1744.8NANANA
HNSCHead and Neck squamous cell carcinoma445224.9474.937-0.0270.814NS
KIRCKidney renal clear cell carcinoma725345.4115.338-0.0480.36NS
KIRPKidney renal papillary cell carcinoma322915.0834.952-0.1170.26NS
LAMLAcute Myeloid Leukemia0173NA7.25NANANA
LGGBrain Lower Grade Glioma0530NA5.11NANANA
LIHCLiver hepatocellular carcinoma503733.3173.5020.1780.0439NS
LUADLung adenocarcinoma595175.0064.88-0.0660.416NS
LUSCLung squamous cell carcinoma515014.8935.2730.3581.69e-06NS
OVOvarian serous cystadenocarcinoma0307NA5.666NANANA
PAADPancreatic adenocarcinoma41795.0224.889NANANA
PCPGPheochromocytoma and Paraganglioma31844.2164.777NANANA
PRADProstate adenocarcinoma524985.3825.167-0.1530.0397NS
READRectum adenocarcinoma101674.8874.739-0.1390.503NS
SARCSarcoma22634.3674.61NANANA
SKCMSkin Cutaneous Melanoma14724.764.819NANANA
STADStomach adenocarcinoma354155.485.8280.2360.021NS
TGCTTesticular Germ Cell Tumors0156NA5.33NANANA
THCAThyroid carcinoma595095.2985.1-0.1280.0173NS
THYMThymoma21206.0265.538NANANA
UCECUterine Corpus Endometrial Carcinoma355465.1265.170.0650.523NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 9.1
Autonomic ganglia CHP212 9
Autonomic ganglia IMR32 10.1
Autonomic ganglia KELLY 9.5
Autonomic ganglia KPNRTBM1 9.6
Autonomic ganglia KPNSI9S 8.3
Autonomic ganglia KPNYN 9.8
Autonomic ganglia MHHNB11 8.6
Autonomic ganglia NB1 8.9
Autonomic ganglia NH6 9.7
Autonomic ganglia SHSY5Y 9.3
Autonomic ganglia SIMA 9.2
Autonomic ganglia SKNAS 8.4
Autonomic ganglia SKNBE2 9.8
Autonomic ganglia SKNDZ 10.1
Autonomic ganglia SKNFI 10
Autonomic ganglia SKNSH 9
Biliary tract HUCCT1 7.8
Biliary tract HUH28 7.4
Biliary tract SNU1079 8.7
Biliary tract SNU1196 8.1
Biliary tract SNU245 8.3
Biliary tract SNU308 4.8
Biliary tract SNU478 8.4
Bone 143B 8.1
Bone A673 9.3
Bone CADOES1 8.3
Bone CAL78 7.8
Bone G292CLONEA141B1 8.3
Bone HOS 8.9
Bone HS706T 8
Bone HS737T 7.6
Bone HS819T 7.6
Bone HS821T 7.4
Bone HS822T 7.7
Bone HS863T 7.3
Bone HS870T 7.5
Bone HS888T 7.6
Bone MG63 8.2
Bone MHHES1 9.8
Bone OUMS27 8.1
Bone RDES 9.4
Bone SJSA1 7.8
Bone SKES1 9.7
Bone SKNMC 9.5
Bone SW1353 8.1
Bone T173 7.8
Bone TC71 9.7
Bone U2OS 8.3
Breast AU565 8.9
Breast BT20 8
Breast BT474 9.1
Breast BT483 9.2
Breast BT549 8.2
Breast CAL120 7.9
Breast CAL148 8.5
Breast CAL51 9.4
Breast CAL851 7.2
Breast CAMA1 9.5
Breast DU4475 9
Breast EFM192A 8.8
Breast EFM19 9.1
Breast EVSAT 8.8
Breast HCC1143 8.4
Breast HCC1187 7.6
Breast HCC1395 7.7
Breast HCC1419 8.6
Breast HCC1428 8.3
Breast HCC1500 8.7
Breast HCC1569 7.9
Breast HCC1599 7.7
Breast HCC1806 7.7
Breast HCC1937 7.9
Breast HCC1954 8.1
Breast HCC202 8.7
Breast HCC2157 8
Breast HCC2218 8.9
Breast HCC38 7.9
Breast HCC70 7.7
Breast HDQP1 7.9
Breast HMC18 8.9
Breast HS274T 7.3
Breast HS281T 7.1
Breast HS343T 7.5
Breast HS578T 7.5
Breast HS606T 7.6
Breast HS739T 8
Breast HS742T 7.4
Breast JIMT1 7.6
Breast KPL1 8.6
Breast MCF7 8.8
Breast MDAMB134VI 9.6
Breast MDAMB157 8
Breast MDAMB175VII 8.9
Breast MDAMB231 7.7
Breast MDAMB361 8.2
Breast MDAMB415 9.3
Breast MDAMB436 7.6
Breast MDAMB453 8.8
Breast MDAMB468 7.4
Breast SKBR3 8.9
Breast T47D 9.3
Breast UACC812 8.2
Breast UACC893 8.2
Breast YMB1 8.8
Breast ZR751 8.7
Breast ZR7530 8.7
Central nervous system 1321N1 8
Central nervous system 42MGBA 7.5
Central nervous system 8MGBA 6.5
Central nervous system A172 7.9
Central nervous system AM38 8.4
Central nervous system BECKER 8.2
Central nervous system CAS1 7.8
Central nervous system CCFSTTG1 8.1
Central nervous system D283MED 9.2
Central nervous system D341MED 9.3
Central nervous system DAOY 8.2
Central nervous system DBTRG05MG 8.1
Central nervous system DKMG 8.1
Central nervous system GAMG 8
Central nervous system GB1 7.2
Central nervous system GI1 8.1
Central nervous system GMS10 8.5
Central nervous system GOS3 8.3
Central nervous system H4 7.8
Central nervous system HS683 8
Central nervous system KALS1 8.2
Central nervous system KG1C 8.4
Central nervous system KNS42 8.1
Central nervous system KNS60 8.1
Central nervous system KNS81 8.2
Central nervous system KS1 7.6
Central nervous system LN18 7.5
Central nervous system LN229 9.2
Central nervous system M059K 7.5
Central nervous system MOGGCCM 7.4
Central nervous system MOGGUVW 8.3
Central nervous system NMCG1 7.4
Central nervous system ONS76 8.3
Central nervous system SF126 8.1
Central nervous system SF295 8
Central nervous system SNB19 7.6
Central nervous system SNU1105 7.5
Central nervous system SNU201 7.8
Central nervous system SNU466 7.8
Central nervous system SNU489 7.4
Central nervous system SNU626 8
Central nervous system SNU738 8.6
Central nervous system SW1088 7.7
Central nervous system SW1783 7.8
Central nervous system T98G 7.8
Central nervous system TM31 8.6
Central nervous system U118MG 7.4
Central nervous system U138MG 7.8
Central nervous system U251MG 7.6
Central nervous system U87MG 7.7
Central nervous system YH13 7.5
Central nervous system YKG1 8.3
Endometrium AN3CA 7.7
Endometrium COLO684 7.9
Endometrium EFE184 8.3
Endometrium EN 8.8
Endometrium ESS1 8.7
Endometrium HEC108 8.3
Endometrium HEC151 8.9
Endometrium HEC1A 8.3
Endometrium HEC1B 8.9
Endometrium HEC251 9
Endometrium HEC265 8.9
Endometrium HEC50B 8.3
Endometrium HEC59 8.8
Endometrium HEC6 8.7
Endometrium ISHIKAWAHERAKLIO02ER 9.5
Endometrium JHUEM1 8.7
Endometrium JHUEM2 9.2
Endometrium JHUEM3 8.6
Endometrium KLE 7.9
Endometrium MFE280 8.9
Endometrium MFE296 8.6
Endometrium MFE319 8.7
Endometrium RL952 9
Endometrium SNGM 8.4
Endometrium SNU1077 8
Endometrium SNU685 7.9
Endometrium TEN 8.6
Haematopoietic and lymphoid 697 9.6
Haematopoietic and lymphoid A3KAW 8.6
Haematopoietic and lymphoid A4FUK 9.7
Haematopoietic and lymphoid ALLSIL 9.1
Haematopoietic and lymphoid AML193 9
Haematopoietic and lymphoid AMO1 9.3
Haematopoietic and lymphoid BCP1 8.8
Haematopoietic and lymphoid BDCM 8.4
Haematopoietic and lymphoid BL41 9.2
Haematopoietic and lymphoid BL70 9.4
Haematopoietic and lymphoid BV173 9.2
Haematopoietic and lymphoid CA46 8.6
Haematopoietic and lymphoid CI1 8.3
Haematopoietic and lymphoid CMK115 10
Haematopoietic and lymphoid CMK86 9.1
Haematopoietic and lymphoid CMK 9
Haematopoietic and lymphoid CMLT1 9.5
Haematopoietic and lymphoid COLO775 8.4
Haematopoietic and lymphoid DAUDI 8.9
Haematopoietic and lymphoid DB 8.4
Haematopoietic and lymphoid DEL 8.3
Haematopoietic and lymphoid DND41 9.5
Haematopoietic and lymphoid DOHH2 8.6
Haematopoietic and lymphoid EB1 7.6
Haematopoietic and lymphoid EB2 7
Haematopoietic and lymphoid EHEB 8
Haematopoietic and lymphoid EJM 7.8
Haematopoietic and lymphoid EM2 8.4
Haematopoietic and lymphoid EOL1 8.9
Haematopoietic and lymphoid F36P 9.1
Haematopoietic and lymphoid GA10 8.6
Haematopoietic and lymphoid GDM1 8.6
Haematopoietic and lymphoid GRANTA519 8.5
Haematopoietic and lymphoid HDLM2 7.9
Haematopoietic and lymphoid HDMYZ 8.1
Haematopoietic and lymphoid HEL9217 9.2
Haematopoietic and lymphoid HEL 9.1
Haematopoietic and lymphoid HH 7.4
Haematopoietic and lymphoid HL60 8.7
Haematopoietic and lymphoid HPBALL 9.3
Haematopoietic and lymphoid HS604T 7.8
Haematopoietic and lymphoid HS611T 8.3
Haematopoietic and lymphoid HS616T 7.8
Haematopoietic and lymphoid HS751T 7.2
Haematopoietic and lymphoid HT 8.6
Haematopoietic and lymphoid HTK 7.8
Haematopoietic and lymphoid HUNS1 8.5
Haematopoietic and lymphoid HUT102 8.3
Haematopoietic and lymphoid HUT78 9.2
Haematopoietic and lymphoid JEKO1 8.6
Haematopoietic and lymphoid JK1 9.4
Haematopoietic and lymphoid JM1 10.4
Haematopoietic and lymphoid JURKAT 9.7
Haematopoietic and lymphoid JURLMK1 9
Haematopoietic and lymphoid JVM2 8.1
Haematopoietic and lymphoid JVM3 8.7
Haematopoietic and lymphoid K562 8.1
Haematopoietic and lymphoid KARPAS299 8.6
Haematopoietic and lymphoid KARPAS422 8.2
Haematopoietic and lymphoid KARPAS620 9.9
Haematopoietic and lymphoid KASUMI1 9.6
Haematopoietic and lymphoid KASUMI2 9
Haematopoietic and lymphoid KASUMI6 8.6
Haematopoietic and lymphoid KCL22 8.9
Haematopoietic and lymphoid KE37 9.4
Haematopoietic and lymphoid KE97 9.1
Haematopoietic and lymphoid KG1 8.9
Haematopoietic and lymphoid KHM1B 9.3
Haematopoietic and lymphoid KIJK 8.2
Haematopoietic and lymphoid KMH2 9.2
Haematopoietic and lymphoid KMM1 9.6
Haematopoietic and lymphoid KMS11 9.9
Haematopoietic and lymphoid KMS12BM 9.4
Haematopoietic and lymphoid KMS18 8.9
Haematopoietic and lymphoid KMS20 8.5
Haematopoietic and lymphoid KMS21BM 9.2
Haematopoietic and lymphoid KMS26 9.1
Haematopoietic and lymphoid KMS27 8.5
Haematopoietic and lymphoid KMS28BM 8.9
Haematopoietic and lymphoid KMS34 10.4
Haematopoietic and lymphoid KO52 9.2
Haematopoietic and lymphoid KOPN8 7.9
Haematopoietic and lymphoid KU812 8.5
Haematopoietic and lymphoid KYO1 8
Haematopoietic and lymphoid L1236 8
Haematopoietic and lymphoid L363 9
Haematopoietic and lymphoid L428 8.1
Haematopoietic and lymphoid L540 8.7
Haematopoietic and lymphoid LAMA84 9.2
Haematopoietic and lymphoid LOUCY 9.5
Haematopoietic and lymphoid LP1 9.2
Haematopoietic and lymphoid M07E 9.3
Haematopoietic and lymphoid MC116 8.9
Haematopoietic and lymphoid ME1 8.1
Haematopoietic and lymphoid MEC1 7.9
Haematopoietic and lymphoid MEC2 8.3
Haematopoietic and lymphoid MEG01 8.7
Haematopoietic and lymphoid MHHCALL2 9.1
Haematopoietic and lymphoid MHHCALL3 9.2
Haematopoietic and lymphoid MHHCALL4 9.4
Haematopoietic and lymphoid MINO 8.6
Haematopoietic and lymphoid MJ 8
Haematopoietic and lymphoid MM1S 9.8
Haematopoietic and lymphoid MOLM13 9.2
Haematopoietic and lymphoid MOLM16 9.1
Haematopoietic and lymphoid MOLM6 8.4
Haematopoietic and lymphoid MOLP2 7.8
Haematopoietic and lymphoid MOLP8 9.2
Haematopoietic and lymphoid MOLT13 9.8
Haematopoietic and lymphoid MOLT16 9.1
Haematopoietic and lymphoid MOLT4 9.2
Haematopoietic and lymphoid MONOMAC1 9.1
Haematopoietic and lymphoid MONOMAC6 9.2
Haematopoietic and lymphoid MOTN1 7.3
Haematopoietic and lymphoid MUTZ5 9
Haematopoietic and lymphoid MV411 9.2
Haematopoietic and lymphoid NALM19 9.5
Haematopoietic and lymphoid NALM1 9.1
Haematopoietic and lymphoid NALM6 8.8
Haematopoietic and lymphoid NAMALWA 8.9
Haematopoietic and lymphoid NB4 9.2
Haematopoietic and lymphoid NCIH929 9.1
Haematopoietic and lymphoid NCO2 8.9
Haematopoietic and lymphoid NOMO1 9.1
Haematopoietic and lymphoid NUDHL1 9.7
Haematopoietic and lymphoid NUDUL1 9
Haematopoietic and lymphoid OCIAML2 9.2
Haematopoietic and lymphoid OCIAML3 8.8
Haematopoietic and lymphoid OCIAML5 8.8
Haematopoietic and lymphoid OCILY10 8.9
Haematopoietic and lymphoid OCILY19 8.9
Haematopoietic and lymphoid OCILY3 8.8
Haematopoietic and lymphoid OCIM1 8.9
Haematopoietic and lymphoid OPM2 9.9
Haematopoietic and lymphoid P12ICHIKAWA 9.5
Haematopoietic and lymphoid P31FUJ 8.3
Haematopoietic and lymphoid P3HR1 8.8
Haematopoietic and lymphoid PCM6 8
Haematopoietic and lymphoid PEER 10.1
Haematopoietic and lymphoid PF382 9.9
Haematopoietic and lymphoid PFEIFFER 8.4
Haematopoietic and lymphoid PL21 9.5
Haematopoietic and lymphoid RAJI 8.6
Haematopoietic and lymphoid RCHACV 9.5
Haematopoietic and lymphoid REC1 8.4
Haematopoietic and lymphoid REH 9.5
Haematopoietic and lymphoid RI1 8.8
Haematopoietic and lymphoid RL 9
Haematopoietic and lymphoid RPMI8226 9.4
Haematopoietic and lymphoid RPMI8402 9.4
Haematopoietic and lymphoid RS411 9
Haematopoietic and lymphoid SEM 9.8
Haematopoietic and lymphoid SET2 8.9
Haematopoietic and lymphoid SIGM5 9.2
Haematopoietic and lymphoid SKM1 7.9
Haematopoietic and lymphoid SKMM2 8.7
Haematopoietic and lymphoid SR786 8.4
Haematopoietic and lymphoid ST486 9
Haematopoietic and lymphoid SUDHL10 8
Haematopoietic and lymphoid SUDHL1 8.3
Haematopoietic and lymphoid SUDHL4 8.8
Haematopoietic and lymphoid SUDHL5 8.9
Haematopoietic and lymphoid SUDHL6 8.6
Haematopoietic and lymphoid SUDHL8 9.3
Haematopoietic and lymphoid SUPB15 9.6
Haematopoietic and lymphoid SUPHD1 8.3
Haematopoietic and lymphoid SUPM2 8
Haematopoietic and lymphoid SUPT11 7.9
Haematopoietic and lymphoid SUPT1 9.4
Haematopoietic and lymphoid TALL1 9.6
Haematopoietic and lymphoid TF1 9.9
Haematopoietic and lymphoid THP1 9.6
Haematopoietic and lymphoid TO175T 7.9
Haematopoietic and lymphoid TOLEDO 10
Haematopoietic and lymphoid U266B1 9.1
Haematopoietic and lymphoid U937 8.6
Haematopoietic and lymphoid UT7 9.1
Haematopoietic and lymphoid WSUDLCL2 8.4
Kidney 769P 8.5
Kidney 786O 7.8
Kidney A498 8.2
Kidney A704 9
Kidney ACHN 8.6
Kidney BFTC909 8.3
Kidney CAKI1 8.1
Kidney CAKI2 8.2
Kidney CAL54 8.4
Kidney KMRC1 8.8
Kidney KMRC20 8.3
Kidney KMRC2 8.6
Kidney KMRC3 8.8
Kidney OSRC2 8.7
Kidney RCC10RGB 8.7
Kidney SNU1272 8.1
Kidney SNU349 8.4
Kidney TUHR10TKB 8.3
Kidney TUHR14TKB 8.9
Kidney TUHR4TKB 9
Kidney VMRCRCW 8.1
Kidney VMRCRCZ 8.4
Large intestine C2BBE1 9
Large intestine CCK81 8.6
Large intestine CL11 7.8
Large intestine CL14 7.9
Large intestine CL34 8
Large intestine CL40 8.4
Large intestine COLO205 8.4
Large intestine COLO320 9.1
Large intestine COLO678 8.4
Large intestine CW2 7.9
Large intestine DLD1 8
Large intestine GP2D 8.6
Large intestine HCC56 8.7
Large intestine HCT116 8.5
Large intestine HCT15 8.3
Large intestine HS675T 7.7
Large intestine HS698T 7.3
Large intestine HT115 8.9
Large intestine HT29 8.2
Large intestine HT55 8.3
Large intestine KM12 8.3
Large intestine LOVO 8.8
Large intestine LS1034 8.2
Large intestine LS123 8.4
Large intestine LS180 8.8
Large intestine LS411N 8.7
Large intestine LS513 8.1
Large intestine MDST8 7.3
Large intestine NCIH508 8.4
Large intestine NCIH716 9
Large intestine NCIH747 8.2
Large intestine OUMS23 9.2
Large intestine RCM1 8.3
Large intestine RKO 8.6
Large intestine SKCO1 8.7
Large intestine SNU1040 7.6
Large intestine SNU1197 7.3
Large intestine SNU175 9.1
Large intestine SNU283 8.5
Large intestine SNU407 8.2
Large intestine SNU503 8.7
Large intestine SNU61 8.3
Large intestine SNU81 8.3
Large intestine SNUC1 8.4
Large intestine SNUC2A 9.2
Large intestine SNUC4 8.4
Large intestine SNUC5 8.9
Large intestine SW1116 8.4
Large intestine SW1417 8.3
Large intestine SW1463 8.6
Large intestine SW403 8.5
Large intestine SW480 8.3
Large intestine SW48 8.9
Large intestine SW620 9
Large intestine SW837 7.7
Large intestine SW948 8.8
Large intestine T84 8.2
Liver ALEXANDERCELLS 8.4
Liver C3A 8.6
Liver HEP3B217 8.2
Liver HEPG2 8.2
Liver HLE 8.5
Liver HLF 8.4
Liver HUH1 8
Liver HUH6 9.2
Liver HUH7 8.9
Liver JHH1 8.9
Liver JHH2 7.6
Liver JHH4 8.3
Liver JHH5 8.5
Liver JHH6 8.3
Liver JHH7 9.1
Liver LI7 8.9
Liver PLCPRF5 8.6
Liver SKHEP1 8.7
Liver SNU182 7.7
Liver SNU387 8.2
Liver SNU398 9.1
Liver SNU423 7.9
Liver SNU449 8.1
Liver SNU475 8.1
Liver SNU761 8.7
Liver SNU878 7.4
Liver SNU886 7.9
Lung A549 8.7
Lung ABC1 9.3
Lung BEN 8
Lung CAL12T 7.9
Lung CALU1 7.4
Lung CALU3 7.2
Lung CALU6 8.7
Lung CHAGOK1 10.4
Lung COLO668 8.6
Lung COLO699 9.2
Lung CORL105 7
Lung CORL23 7.6
Lung CORL24 9.2
Lung CORL279 8.6
Lung CORL311 9.4
Lung CORL47 8.4
Lung CORL51 9.1
Lung CORL88 8.9
Lung CORL95 8.8
Lung CPCN 9.1
Lung DMS114 9.6
Lung DMS153 8.5
Lung DMS273 7.9
Lung DMS454 8.6
Lung DMS53 9.7
Lung DMS79 8.9
Lung DV90 8.6
Lung EBC1 7.9
Lung EPLC272H 7.6
Lung HARA 8.6
Lung HCC1171 7.6
Lung HCC1195 7
Lung HCC15 8.3
Lung HCC2279 7
Lung HCC2935 7.9
Lung HCC33 8.9
Lung HCC366 8.1
Lung HCC4006 7.5
Lung HCC44 7.6
Lung HCC78 7.9
Lung HCC827 7.6
Lung HCC95 7.9
Lung HLC1 9.1
Lung HLFA 7.2
Lung HS229T 7.7
Lung HS618T 7.4
Lung IALM 8.1
Lung KNS62 7.8
Lung LC1F 8.1
Lung LC1SQSF 8.1
Lung LCLC103H 8.1
Lung LCLC97TM1 8.7
Lung LK2 10.6
Lung LOUNH91 7.6
Lung LU65 8.2
Lung LU99 8.5
Lung LUDLU1 8.2
Lung LXF289 8
Lung MORCPR 9
Lung NCIH1048 9.6
Lung NCIH1092 10
Lung NCIH1105 9.4
Lung NCIH1155 9.1
Lung NCIH1184 9.4
Lung NCIH1299 9.1
Lung NCIH1339 8.4
Lung NCIH1341 8.8
Lung NCIH1355 9.1
Lung NCIH1373 8.3
Lung NCIH1385 8.7
Lung NCIH1395 8.4
Lung NCIH1435 8.3
Lung NCIH1436 9.2
Lung NCIH1437 8.7
Lung NCIH146 9.1
Lung NCIH1563 7.7
Lung NCIH1568 9.1
Lung NCIH1573 9.4
Lung NCIH1581 9.3
Lung NCIH1618 9.3
Lung NCIH1623 9.8
Lung NCIH1648 7.9
Lung NCIH1650 7.3
Lung NCIH1651 8.8
Lung NCIH1666 8.5
Lung NCIH1693 8.7
Lung NCIH1694 9
Lung NCIH1703 8.6
Lung NCIH1734 9
Lung NCIH1755 8.4
Lung NCIH1781 5.4
Lung NCIH1792 7.3
Lung NCIH1793 7.9
Lung NCIH1836 9.5
Lung NCIH1838 6.4
Lung NCIH1869 7.7
Lung NCIH1876 9.5
Lung NCIH1915 7.8
Lung NCIH1930 11.2
Lung NCIH1944 8.6
Lung NCIH1963 9.5
Lung NCIH196 8
Lung NCIH1975 7.2
Lung NCIH2009 8
Lung NCIH2023 8.5
Lung NCIH2029 9
Lung NCIH2030 8.6
Lung NCIH2066 8.7
Lung NCIH2081 9.3
Lung NCIH2085 8.5
Lung NCIH2087 7.7
Lung NCIH209 8.8
Lung NCIH2106 6.9
Lung NCIH2110 8.1
Lung NCIH211 8.6
Lung NCIH2122 7.9
Lung NCIH2126 9.1
Lung NCIH2141 8.7
Lung NCIH2170 8
Lung NCIH2171 9
Lung NCIH2172 8.3
Lung NCIH2196 9
Lung NCIH2227 8.5
Lung NCIH2228 7.4
Lung NCIH226 8.8
Lung NCIH2286 8.9
Lung NCIH2291 7.6
Lung NCIH2342 6.3
Lung NCIH2347 8
Lung NCIH23 9.1
Lung NCIH2405 8.3
Lung NCIH2444 7.9
Lung NCIH292 7.7
Lung NCIH322 8.2
Lung NCIH3255 7.6
Lung NCIH358 7.9
Lung NCIH441 4.1
Lung NCIH446 8.6
Lung NCIH460 8.2
Lung NCIH510 8
Lung NCIH520 8.8
Lung NCIH522 8.7
Lung NCIH524 8.4
Lung NCIH526 8.4
Lung NCIH596 7.1
Lung NCIH647 8
Lung NCIH650 8.6
Lung NCIH661 8.9
Lung NCIH69 9.6
Lung NCIH727 7.8
Lung NCIH810 8.8
Lung NCIH82 9.4
Lung NCIH838 8.2
Lung NCIH841 8.5
Lung NCIH854 8
Lung NCIH889 8.6
Lung PC14 8
Lung RERFLCAD1 8.3
Lung RERFLCAD2 7.9
Lung RERFLCAI 8.4
Lung RERFLCKJ 8.5
Lung RERFLCMS 8.7
Lung RERFLCSQ1 7.8
Lung SBC5 9.1
Lung SCLC21H 8.7
Lung SHP77 8.4
Lung SKLU1 8.2
Lung SKMES1 7.3
Lung SQ1 6.7
Lung SW1271 8.6
Lung SW1573 9.2
Lung SW900 8.1
Lung VMRCLCD 8.2
Lung VMRCLCP 8.3
Oesophagus COLO680N 8.2
Oesophagus ECGI10 9.2
Oesophagus KYSE140 9
Oesophagus KYSE150 7.2
Oesophagus KYSE180 8.5
Oesophagus KYSE270 7.9
Oesophagus KYSE30 8.2
Oesophagus KYSE410 9
Oesophagus KYSE450 8.6
Oesophagus KYSE510 8.1
Oesophagus KYSE520 8.7
Oesophagus KYSE70 8.9
Oesophagus OE19 4.4
Oesophagus OE33 8.7
Oesophagus TE10 8.7
Oesophagus TE11 8.5
Oesophagus TE14 9.2
Oesophagus TE15 9.2
Oesophagus TE1 8.3
Oesophagus TE4 8.6
Oesophagus TE5 8.6
Oesophagus TE6 8.4
Oesophagus TE8 8.7
Oesophagus TE9 8.5
Oesophagus TT 8.8
Ovary 59M 7.4
Ovary A2780 9.3
Ovary CAOV3 8
Ovary CAOV4 9.1
Ovary COLO704 8.8
Ovary COV318 7.7
Ovary COV362 7.9
Ovary COV434 9.2
Ovary COV504 7.9
Ovary COV644 8.7
Ovary EFO21 8.6
Ovary EFO27 8.6
Ovary ES2 8.1
Ovary FUOV1 8.2
Ovary HEYA8 7.7
Ovary HS571T 7.3
Ovary IGROV1 8.7
Ovary JHOC5 8.7
Ovary JHOM1 8.3
Ovary JHOM2B 8.2
Ovary JHOS2 7.2
Ovary JHOS4 8.5
Ovary KURAMOCHI 8
Ovary MCAS 8
Ovary NIHOVCAR3 8.7
Ovary OAW28 8.6
Ovary OAW42 8.7
Ovary OC314 8.8
Ovary OC316 8.8
Ovary ONCODG1 8.4
Ovary OV56 7.8
Ovary OV7 8
Ovary OV90 8.5
Ovary OVCAR4 9.2
Ovary OVCAR8 7.7
Ovary OVISE 8.2
Ovary OVK18 8.5
Ovary OVKATE 8.3
Ovary OVMANA 9.1
Ovary OVSAHO 9
Ovary OVTOKO 8.4
Ovary RMGI 7.4
Ovary RMUGS 7.7
Ovary SKOV3 8.4
Ovary SNU119 8.4
Ovary SNU840 8.3
Ovary SNU8 8.3
Ovary TOV112D 9.5
Ovary TOV21G 8.6
Ovary TYKNU 8.1
Pancreas ASPC1 8.1
Pancreas BXPC3 8
Pancreas CAPAN1 7.9
Pancreas CAPAN2 8.4
Pancreas CFPAC1 7.8
Pancreas DANG 7.1
Pancreas HPAC 8.8
Pancreas HPAFII 8.2
Pancreas HS766T 7.3
Pancreas HUPT3 7.4
Pancreas HUPT4 7.5
Pancreas KCIMOH1 8.6
Pancreas KLM1 7.6
Pancreas KP2 8.2
Pancreas KP3 8.6
Pancreas KP4 9.4
Pancreas L33 7.8
Pancreas MIAPACA2 7.8
Pancreas PANC0203 8.2
Pancreas PANC0213 7.7
Pancreas PANC0327 8.4
Pancreas PANC0403 8.1
Pancreas PANC0504 8.5
Pancreas PANC0813 8
Pancreas PANC1005 8.3
Pancreas PANC1 8.5
Pancreas PATU8902 8.7
Pancreas PATU8988S 9
Pancreas PATU8988T 8.7
Pancreas PK1 8.5
Pancreas PK45H 7.6
Pancreas PK59 8.9
Pancreas PL45 8.6
Pancreas PSN1 8.1
Pancreas QGP1 9.8
Pancreas SNU213 7.5
Pancreas SNU324 8.6
Pancreas SNU410 7.9
Pancreas SU8686 7.8
Pancreas SUIT2 8.4
Pancreas SW1990 8.6
Pancreas T3M4 7.4
Pancreas TCCPAN2 7.9
Pancreas YAPC 8.3
Pleura ACCMESO1 7.8
Pleura DM3 6.7
Pleura ISTMES1 7.9
Pleura ISTMES2 8.6
Pleura JL1 8
Pleura MPP89 7.6
Pleura MSTO211H 8.6
Pleura NCIH2052 7.6
Pleura NCIH2452 8.4
Pleura NCIH28 8.9
Prostate 22RV1 10
Prostate DU145 8.4
Prostate LNCAPCLONEFGC 8.5
Prostate MDAPCA2B 8.4
Prostate NCIH660 8.3
Prostate PC3 7.2
Prostate VCAP 9.2
Salivary gland A253 8.4
Salivary gland YD15 7.6
Skin A101D 8.2
Skin A2058 8
Skin A375 8.1
Skin C32 8.4
Skin CHL1 8.4
Skin CJM 9
Skin COLO679 8
Skin COLO741 8.5
Skin COLO783 8
Skin COLO792 6.8
Skin COLO800 8
Skin COLO818 8.2
Skin COLO829 7.8
Skin COLO849 7.3
Skin G361 8.1
Skin GRM 7.8
Skin HMCB 8.5
Skin HS294T 7.6
Skin HS600T 7.4
Skin HS688AT 7.6
Skin HS695T 7.6
Skin HS839T 7.4
Skin HS852T 7.5
Skin HS895T 7.1
Skin HS934T 7.2
Skin HS936T 8.1
Skin HS939T 8.2
Skin HS940T 7.7
Skin HS944T 7.3
Skin HT144 8.4
Skin IGR1 8.8
Skin IGR37 6.9
Skin IGR39 7.4
Skin IPC298 7.7
Skin K029AX 7.7
Skin LOXIMVI 7.8
Skin MALME3M 8.1
Skin MDAMB435S 7.4
Skin MELHO 8.4
Skin MELJUSO 7.1
Skin MEWO 8.5
Skin RPMI7951 7.7
Skin RVH421 8.6
Skin SH4 7.9
Skin SKMEL1 8.4
Skin SKMEL24 7.7
Skin SKMEL28 7.5
Skin SKMEL2 7.8
Skin SKMEL30 8.1
Skin SKMEL31 7.8
Skin SKMEL3 7.7
Skin SKMEL5 8
Skin UACC257 7.3
Skin UACC62 8.4
Skin WM115 7.6
Skin WM1799 8
Skin WM2664 7.8
Skin WM793 7.1
Skin WM88 8.4
Skin WM983B 8
Small intestine HUTU80 10.1
Soft tissue A204 8.5
Soft tissue G401 8.7
Soft tissue G402 8.7
Soft tissue GCT 7.8
Soft tissue HS729 8.1
Soft tissue HT1080 8.3
Soft tissue KYM1 8.5
Soft tissue MESSA 8.9
Soft tissue RD 8.2
Soft tissue RH30 7.8
Soft tissue RH41 8.7
Soft tissue RKN 7.9
Soft tissue S117 8.3
Soft tissue SJRH30 9.4
Soft tissue SKLMS1 8.1
Soft tissue SKUT1 9
Soft tissue TE125T 7.5
Soft tissue TE159T 8
Soft tissue TE441T 8.1
Soft tissue TE617T 9.4
Stomach 2313287 8.5
Stomach AGS 9
Stomach AZ521 9.4
Stomach ECC10 9
Stomach ECC12 8.4
Stomach FU97 8.9
Stomach GCIY 8.7
Stomach GSS 9.3
Stomach GSU 8.5
Stomach HGC27 9.2
Stomach HS746T 8.3
Stomach HUG1N 7.9
Stomach IM95 7.8
Stomach KATOIII 8
Stomach KE39 8.5
Stomach LMSU 8.7
Stomach MKN1 7.9
Stomach MKN45 7.4
Stomach MKN74 8.1
Stomach MKN7 6.3
Stomach NCCSTCK140 7.9
Stomach NCIN87 8.8
Stomach NUGC2 7.9
Stomach NUGC3 6.5
Stomach NUGC4 8.8
Stomach OCUM1 8
Stomach RERFGC1B 8.9
Stomach SH10TC 7.8
Stomach SNU16 8.7
Stomach SNU1 9.2
Stomach SNU216 8
Stomach SNU520 7.5
Stomach SNU5 7.8
Stomach SNU601 8.1
Stomach SNU620 8.2
Stomach SNU668 7.2
Stomach SNU719 8.1
Stomach TGBC11TKB 9.2
Thyroid 8305C 7.4
Thyroid 8505C 7.6
Thyroid BCPAP 8.2
Thyroid BHT101 8.1
Thyroid CAL62 8.5
Thyroid CGTHW1 7.1
Thyroid FTC133 7.5
Thyroid FTC238 8
Thyroid ML1 8.6
Thyroid SW579 7.2
Thyroid TT2609C02 8.3
Thyroid TT 8.3
Upper aerodigestive tract BHY 7.7
Upper aerodigestive tract BICR16 7.5
Upper aerodigestive tract BICR18 8
Upper aerodigestive tract BICR22 8.4
Upper aerodigestive tract BICR31 7.8
Upper aerodigestive tract BICR56 8.5
Upper aerodigestive tract BICR6 8.4
Upper aerodigestive tract CAL27 7.9
Upper aerodigestive tract CAL33 8.1
Upper aerodigestive tract DETROIT562 8.1
Upper aerodigestive tract FADU 8.8
Upper aerodigestive tract HS840T 7.5
Upper aerodigestive tract HSC2 8.1
Upper aerodigestive tract HSC3 8.4
Upper aerodigestive tract HSC4 8.8
Upper aerodigestive tract PECAPJ15 8.5
Upper aerodigestive tract PECAPJ34CLONEC12 8.1
Upper aerodigestive tract PECAPJ41CLONED2 7.9
Upper aerodigestive tract PECAPJ49 7.9
Upper aerodigestive tract SCC15 7.8
Upper aerodigestive tract SCC25 7.8
Upper aerodigestive tract SCC4 8.4
Upper aerodigestive tract SCC9 7.4
Upper aerodigestive tract SNU1076 7.7
Upper aerodigestive tract SNU1214 7.8
Upper aerodigestive tract SNU46 7.6
Upper aerodigestive tract SNU899 7.8
Upper aerodigestive tract YD10B 8.2
Upper aerodigestive tract YD38 8.2
Upper aerodigestive tract YD8 8.3
Urinary tract 5637 7.7
Urinary tract 639V 9
Urinary tract 647V 8
Urinary tract BC3C 8.2
Urinary tract BFTC905 8.5
Urinary tract CAL29 8.6
Urinary tract HS172T 6.9
Urinary tract HT1197 7.9
Urinary tract HT1376 7.8
Urinary tract J82 7.8
Urinary tract JMSU1 8.3
Urinary tract KMBC2 8.7
Urinary tract KU1919 8.5
Urinary tract RT11284 8.5
Urinary tract RT112 7.9
Urinary tract RT4 8.5
Urinary tract SCABER 8.2
Urinary tract SW1710 8.3
Urinary tract SW780 8.7
Urinary tract T24 8
Urinary tract TCCSUP 7.4
Urinary tract UMUC1 7.2
Urinary tract UMUC3 9.8
Urinary tract VMCUB1 8.4
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 5
Adrenal gland 5.8
Appendix 9.3
Bone marrow 8
Breast 9.3
Cerebral cortex 6.7
Cervix, uterine 10.4
Colon 5.9
Duodenum 5.1
Endometrium 11.5
Epididymis 7.7
Esophagus 7
Fallopian tube 10.4
Gallbladder 8.6
Heart muscle 3.2
Kidney 6.9
Liver 2.6
Lung 8.2
Lymph node 8.8
Ovary 10.3
Pancreas 1.1
Parathyroid gland 21.6
Placenta 10.2
Prostate 11.4
Rectum 6.8
Salivary gland 2.6
Seminal vesicle 8.6
Skeletal muscle 1.3
Skin 10.4
Small intestine 6.2
Smooth muscle 9
Spleen 8.3
Stomach 5.8
Testis 47.3
Thyroid gland 14.6
Tonsil 8.6
Urinary bladder 7.1
> Text Mining based Expression
 
PMID Expression Cancer Evidence
27035278altered expressionHepatocellular CarcinomaNotably, alterations of ARID2 expression abrogated the effects of miR155 on HCC cell proliferation, cell cycle and apoptosis
26169693underexpressionHepatocellular CarcinomaAs a result, ARID2 expression in hepatocellular carcinoma (HCC) was decreased
25502816altered expressionHepatocellular CarcinomaSequencing analysis focused on nine genes typically altered during liver carcinogenesis, i.e. ARID2, AXIN1, BRAF, CTNNB1, NFE2L2, H/K/N-RAS, and TP53
26637902loss of expressionGastric CarcinomaLoss of ARID1B and ARID2 was also related to tumor progression, but their relationship was weaker than that of ARID1A.
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Somatic copy number alteration in primary tomur tissue
> The Cancer Genome Atlas (TCGA)
 


  Correlation between expression and SCNA as well as percentage of patients in different status.
Cancer Full Name # Sample R P % Loss % Neutral % Gain Status
BLCABladder urothelial carcinoma4040.4611.19e-2216.861.921.3Neutral
BRCABreast invasive carcinoma10750.3921.02e-4013.76620.3Neutral
CESCCervical and endocervical cancers2920.3221.89e-085.576.717.8Neutral
COADColon adenocarcinoma4490.387.53e-179.668.821.6Neutral
ESCAEsophageal carcinoma1830.6012.34e-1923.558.518Neutral
GBMGlioblastoma multiforme1470.442.48e-0811.678.210.2Neutral
HNSCHead and Neck squamous cell carcinoma5140.4041.18e-2110.172.417.5Neutral
KIRCKidney renal clear cell carcinoma5250.2461.07e-08176.622.5Neutral
KIRPKidney renal papillary cell carcinoma2880.3154.49e-080.360.838.9Gain
LAMLAcute Myeloid Leukemia1660.0190.8081.898.20Neutral
LGGBrain Lower Grade Glioma5130.3441.03e-1513.883.42.7Neutral
LIHCLiver hepatocellular carcinoma3640.2682.21e-0712.674.213.2Neutral
LUADLung adenocarcinoma5120.5251.36e-3721.35226.8Neutral
LUSCLung squamous cell carcinoma4980.4981.28e-3211.455.433.1Neutral
OVOvarian serous cystadenocarcinoma3000.7624.37e-58164737Gain
PAADPancreatic adenocarcinoma1770.4493.6e-1015.371.813Neutral
PCPGPheochromocytoma and Paraganglioma1620.3341.36e-051.991.46.8Neutral
PRADProstate adenocarcinoma4910.2083.24e-066.589.83.7Neutral
READRectum adenocarcinoma1640.4511.32e-0912.273.214.6Neutral
SARCSarcoma2550.2711.16e-0526.358.415.3Neutral
SKCMSkin Cutaneous Melanoma3670.2452.09e-0622.664.912.5Neutral
STADStomach adenocarcinoma4130.5452.79e-3313.665.920.6Neutral
TGCTTesticular Germ Cell Tumors1500.4998.43e-110.73663.3Gain
THCAThyroid carcinoma4970.1796.07e-05097.22.8Neutral
THYMThymoma1190.1410.1275.990.83.4Neutral
UCECUterine Corpus Endometrial Carcinoma5370.2925.22e-125.479.914.7Neutral
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Methylation level in the promoter region of CR
> Methylation level in the promoter region of CR
 


  Correlation between expression and methylation as well as differential methylation analysis.
Cancer Full Name R P # N # T Delta beta (T vs N) P value (T vs N) Status
BLCABladder urothelial carcinoma-0.2453.51e-07174080.0010.0136NS/NA
BRCABreast invasive carcinoma-0.2391.25e-12837850.0010.000341NS/NA
CESCCervical and endocervical cancers-0.1210.0333306NANANS/NA
COADColon adenocarcinoma-0.0820.146192970.0020.0332NS/NA
ESCAEsophageal carcinoma-0.41.03e-089185NANANS/NA
GBMGlioblastoma multiforme0.0910.471164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.4010205220.0047.22e-10NS/NA
KIRCKidney renal clear cell carcinoma-0.2060.00013243190.0520.00113NS/NA
KIRPKidney renal papillary cell carcinoma-0.3114.97e-08232750.0042.31e-10NS/NA
LAMLAcute Myeloid Leukemia0.0020.9840170NANANS/NA
LGGBrain Lower Grade Glioma-0.2392.92e-080530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.060.225413730.0562.29e-05NS/NA
LUADLung adenocarcinoma-0.0840.0677214560.0330.173NS/NA
LUSCLung squamous cell carcinoma-0.1880.0002438370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.8830.0030809NANANS/NA
PAADPancreatic adenocarcinoma-0.3383.37e-064179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.0870.2393184NANANS/NA
PRADProstate adenocarcinoma-0.359.61e-17354980.0077.26e-18NS/NA
READRectum adenocarcinoma-0.1810.0699299NANANS/NA
SARCSarcoma-0.334.98e-080263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.3395.35e-141471NANANS/NA
STADStomach adenocarcinoma-0.1680.001150372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.0760.3430156NANANS/NA
THCAThyroid carcinoma-0.1060.01255050900.86NS/NA
THYMThymoma-0.1310.1492120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.1650.00037434431-0.0010.933NS/NA
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Primary tumor tissue from TCGA
> Normal tumor tissue from HPA
>The Cancer Genome Atlas (TCGA)
 
There is no record.
> The Human Protein Atlas (HPA)
 
There is no antibody staining data.
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Association between expresson and subtype
> Overall survival analysis based on expression
> Association between expresson and stage
> Association between expresson and grade
> Subtype
 


  Association between expresson and subtype.
Cancer Full Name # Patients P Value (Kruskal-Wallis) Association Source
BLCABladder urothelial carcinoma1280.104NS24476821
BRCABreast invasive carcinoma5215.67e-27Significant23000897
COADColon adenocarcinoma1490.113NS22810696
GBMGlioblastoma multiforme1570.003Significant26824661
HNSCHead and Neck squamous cell carcinoma2796.28e-15Significant25631445
KIRPKidney renal papillary cell carcinoma1610.0246Significant26536169
LGGBrain Lower Grade Glioma5130.00301Significant26824661
LUADLung adenocarcinoma2302.58e-05Significant25079552
LUSCLung squamous cell carcinoma1780.00127Significant22960745
OVOvarian serous cystadenocarcinoma2873.75e-10Significant21720365
PRADProstate adenocarcinoma3330.00201Significant26544944
READRectum adenocarcinoma670.0143Significant22810696
SKCMSkin Cutaneous Melanoma3150.851NS26091043
STADStomach adenocarcinoma2770.000271Significant25079317
THCAThyroid carcinoma3910.00852Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.642NS23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.8490.435NS
BRCABreast invasive carcinoma1079 1.360.19NS
CESCCervical and endocervical cancers291 0.4720.0344Longer
COADColon adenocarcinoma439 0.710.242NS
ESCAEsophageal carcinoma184 1.120.726NS
GBMGlioblastoma multiforme158 0.5320.0156Longer
HNSCHead and Neck squamous cell carcinoma518 0.5180.0018Longer
KIRCKidney renal clear cell carcinoma531 0.770.223NS
KIRPKidney renal papillary cell carcinoma287 1.250.565NS
LAMLAcute Myeloid Leukemia149 0.8690.648NS
LGGBrain Lower Grade Glioma511 1.2660.355NS
LIHCLiver hepatocellular carcinoma365 0.9930.976NS
LUADLung adenocarcinoma502 0.9690.876NS
LUSCLung squamous cell carcinoma494 0.980.917NS
OVOvarian serous cystadenocarcinoma303 1.0820.715NS
PAADPancreatic adenocarcinoma177 1.0080.977NS
PCPGPheochromocytoma and Paraganglioma179 668473109.820.0673NS
PRADProstate adenocarcinoma497 0.6510.626NS
READRectum adenocarcinoma159 0.5340.2NS
SARCSarcoma259 1.2540.475NS
SKCMSkin Cutaneous Melanoma459 0.9860.941NS
STADStomach adenocarcinoma388 1.070.758NS
TGCTTesticular Germ Cell Tumors134 00.317NS
THCAThyroid carcinoma500 0.4590.259NS
THYMThymoma119 00.0165Longer
UCECUterine Corpus Endometrial Carcinoma543 1.5430.173NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.1550.0017Lower
BRCABreast invasive carcinoma1071 -0.0210.5NS
CESCCervical and endocervical cancers167 0.0170.824NS
COADColon adenocarcinoma445 -0.070.143NS
ESCAEsophageal carcinoma162 -0.0170.835NS
HNSCHead and Neck squamous cell carcinoma448 -0.050.296NS
KIRCKidney renal clear cell carcinoma531 -0.0150.73NS
KIRPKidney renal papillary cell carcinoma260 0.0490.43NS
LIHCLiver hepatocellular carcinoma347 0.0920.0857NS
LUADLung adenocarcinoma507 0.0130.768NS
LUSCLung squamous cell carcinoma497 0.0180.691NS
OVOvarian serous cystadenocarcinoma302 -0.0770.179NS
PAADPancreatic adenocarcinoma176 -0.040.599NS
READRectum adenocarcinoma156 -0.0380.634NS
SKCMSkin Cutaneous Melanoma410 -0.0370.459NS
STADStomach adenocarcinoma392 0.080.112NS
TGCTTesticular Germ Cell Tumors81 -0.1350.231NS
THCAThyroid carcinoma499 -0.080.0753NS
UCECUterine Corpus Endometrial Carcinoma501 0.0480.283NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 -0.0850.164NS
HNSCHead and Neck squamous cell carcinoma498 0.1140.011Higher
KIRCKidney renal clear cell carcinoma525 -0.0660.13NS
LGGBrain Lower Grade Glioma514 0.020.647NS
LIHCLiver hepatocellular carcinoma366 0.1090.0371Higher
OVOvarian serous cystadenocarcinoma296 -0.0050.93NS
PAADPancreatic adenocarcinoma176 -0.0880.243NS
STADStomach adenocarcinoma406 0.0470.349NS
UCECUterine Corpus Endometrial Carcinoma534 0.1140.00826Higher
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Targets inferred by reverse engineering method
> Targets identified by ChIP-seq data
> Targets inferred by reverse engineering method
 
> Targets identified by ChIP-seq data
 
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Drugs from DrugBank database
> Drugs from DrugBank database
 
There is no record for ARID2.
Summary
SymbolARID2
NameAT-rich interaction domain 2
Aliases KIAA1557; DKFZp686G052; FLJ30619; BAF200; ARID domain-containing protein 2; BRG1-associated factor 200; zinc ......
Location12q12
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content > Protein-Protein Interaction Network
> miRNA Regulatory Relationship
> Interactions from Text Mining
> Protein-Protein Interaction Network
 
> miRNA Regulatory Relationship
 
> Interactions from Text Mining
 
PMID Cancer Hierarchy Gene Relation to CR Evidence
27035278Hepatocellular CarcinomaupstreammiR-155negative regulationMechanistically, we identified AT-rich interactive domain 2 (ARID2) as a direct downstream target and functional mediator of miR155 in HCC cells
26169693Hepatocellular CarcinomaupstreammiR-208-3p; TGFβ1/miR-208-3p/ARID2 regulatory pathwaynegaitve regulation; regulationIn this study, miR-208-3p was highly expressed and directly repressed ARID2 expression; Moreover, ARID2 was possibly a downstream element of transforming growth factor beta1 (TGFβ1)/miR-208-3p/ARID2 regulatory pathway