Browse ARID1B in pancancer

Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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
PF12031 SWI/SNF-like complex subunit BAF250/Osa
Function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically.

Classification
Class Modification Substrate Product PubMed
Histone modification write Histone ubiquitination H2BK120, DNA motif # 20086098
> Gene Ontology
 
Biological Process GO:0006338 chromatin remodeling
GO:0040029 regulation of gene expression, epigenetic
GO:0045815 positive regulation of gene expression, epigenetic
GO:0048096 chromatin-mediated maintenance of transcription
Molecular Function GO:0003713 transcription coactivator activity
Cellular Component GO:0016514 SWI/SNF complex
GO:0070603 SWI/SNF superfamily-type complex
GO:0071565 nBAF 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
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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
COSM159176c.3390C>Gp.Y1130*Substitution - NonsenseBreast
COSM351346c.5377G>Tp.E1793*Substitution - NonsenseLung
COSM3410731c.2786C>Tp.A929VSubstitution - MissenseLarge_intestine
COSM4767421c.5368C>Tp.R1790CSubstitution - MissenseLarge_intestine
COSM1496260c.4114G>Ap.D1372NSubstitution - MissenseKidney
COSM3622271c.2480G>Ap.R827QSubstitution - MissenseSkin
COSM4797025c.2400G>Ap.G800GSubstitution - coding silentLiver
COSM5547110c.2476_2483delGGACGAATp.G826fs*42Deletion - FrameshiftProstate
COSM3920984c.5902C>Tp.P1968SSubstitution - MissenseSkin
COSM5607872c.5817C>Tp.F1939FSubstitution - coding silentSkin
COSM5034727c.6130G>Ap.E2044KSubstitution - MissenseOesophagus
COSM5607874c.5656C>Tp.P1886SSubstitution - MissenseSkin
COSM5495288c.3476A>Gp.K1159RSubstitution - MissenseBiliary_tract
COSM4635348c.6653C>Tp.A2218VSubstitution - MissenseLarge_intestine
COSM5949853c.1200_1218del19p.G403fs*35Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM3374118c.5167G>Ap.D1723NSubstitution - MissenseThyroid
COSM450799c.5137G>Cp.E1713QSubstitution - MissenseBreast
COSM3730478c.1641G>Ap.P547PSubstitution - coding silentStomach
COSM5752821c.1982_1983insGp.S665fs*27Insertion - FrameshiftBreast
COSM5752708c.3109G>Tp.E1037*Substitution - NonsenseBreast
COSM3860000c.5750C>Tp.A1917VSubstitution - MissenseStomach
COSM5492163c.1023delGp.G343fs*29Deletion - FrameshiftBiliary_tract
COSM165983c.5409_5444del36p.G1804_H1815del12Deletion - In frameBreast
COSM5474900c.1583A>Tp.Q528LSubstitution - MissenseLarge_intestine
COSM4646767c.672C>Gp.P224PSubstitution - coding silentLarge_intestine
COSM3022243c.1551C>Tp.Y517YSubstitution - coding silentLarge_intestine
COSM3859982c.4303C>Tp.Q1435*Substitution - NonsenseStomach
COSM4945411c.2171G>Tp.G724VSubstitution - MissenseLiver
COSM4663238c.787_789delGGAp.G270delGDeletion - In frameLarge_intestine
COSM116080c.5672A>Cp.Q1891PSubstitution - MissenseOvary
COSM5814345c.4231A>Tp.R1411WSubstitution - MissenseLiver
COSM740283c.4193G>Tp.R1398LSubstitution - MissenseLung
COSM1075358c.5178C>Tp.D1726DSubstitution - coding silentEndometrium
COSM1183553c.803G>Cp.G268ASubstitution - MissenseLarge_intestine
COSM309267c.3285G>Tp.L1095FSubstitution - MissenseLung
COSM5702544c.3291+1G>Ap.?UnknownCentral_nervous_system
COSM5131843c.4505A>Gp.Q1502RSubstitution - MissenseSmall_intestine
COSM4767418c.2449A>Cp.S817RSubstitution - MissenseBiliary_tract
COSM3737745c.6181C>Ap.Q2061KSubstitution - MissenseSoft_tissue
COSM1740874c.5688delGp.N1897fs*59Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1075346c.2889A>Cp.E963DSubstitution - MissenseEndometrium
COSM3715358c.3202C>Gp.P1068ASubstitution - MissenseUpper_aerodigestive_tract
COSM3697628c.195G>Ap.Q65QSubstitution - coding silentLarge_intestine
COSM343090c.2013T>Cp.S671SSubstitution - coding silentLung
COSM4767586c.189A>Gp.Q63QSubstitution - coding silentBiliary_tract
COSM1075352c.4078G>Ap.G1360SSubstitution - MissenseEndometrium
COSM3622289c.4632C>Tp.S1544SSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM3022498c.6449C>Tp.T2150MSubstitution - MissenseLarge_intestine
COSM3715358c.3202C>Gp.P1068ASubstitution - MissenseUpper_aerodigestive_tract
COSM4455019c.6365A>Gp.Q2122RSubstitution - MissenseSkin
COSM1621132c.1062G>Tp.P354PSubstitution - coding silentLiver
COSM1716951c.5181delGp.E1728fs*20Deletion - FrameshiftOvary
COSM5521073c.5540C>Ap.S1847YSubstitution - MissenseBiliary_tract
COSM3410731c.2786C>Tp.A929VSubstitution - MissenseCentral_nervous_system
COSM5996707c.5480G>Ap.R1827HSubstitution - MissenseProstate
COSM1621132c.1062G>Tp.P354PSubstitution - coding silentLiver
COSM3727930c.4891_4892insGp.A1631fs*2Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM5105952c.189_190insCAGCAGp.Q73_H74insQQInsertion - In frameLarge_intestine
COSM3622263c.1730G>Tp.G577VSubstitution - MissenseSkin
COSM3622283c.4068C>Tp.R1356RSubstitution - coding silentSkin
COSM740276c.5264A>Cp.D1755ASubstitution - MissenseLung
COSM5105952c.189_190insCAGCAGp.Q73_H74insQQInsertion - In frameUpper_aerodigestive_tract
COSM3859996c.5420A>Gp.D1807GSubstitution - MissenseStomach
COSM5472196c.1847A>Gp.D616GSubstitution - MissenseLarge_intestine
COSM5019600c.3960-7A>Gp.?UnknownSoft_tissue
COSM420998c.4162C>Gp.Q1388ESubstitution - MissenseUrinary_tract
COSM4643068c.5412C>Tp.G1804GSubstitution - coding silentLarge_intestine
COSM1075357c.5166C>Tp.D1722DSubstitution - coding silentEndometrium
COSM3022303c.2465C>Tp.A822VSubstitution - MissenseLarge_intestine
COSM4767586c.189A>Gp.Q63QSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM2155417c.1668G>Ap.A556ASubstitution - coding silentCentral_nervous_system
COSM4663250c.3654G>Ap.V1218VSubstitution - coding silentLarge_intestine
COSM1183549c.5822C>Tp.P1941LSubstitution - MissenseLarge_intestine
COSM398306c.5089G>Tp.A1697SSubstitution - MissenseLung
COSM4586403c.2192T>Cp.M731TSubstitution - MissenseBone
COSM3928192c.2902C>Tp.Q968*Substitution - NonsenseCentral_nervous_system
COSM4817227c.2002C>Tp.P668SSubstitution - MissenseCervix
COSM5019600c.3960-7A>Gp.?UnknownSoft_tissue
COSM5996701c.2763G>Ap.T921TSubstitution - coding silentProstate
COSM1075361c.5577C>Tp.I1859ISubstitution - coding silentEndometrium
COSM3941605c.5358C>Tp.D1786DSubstitution - coding silentOesophagus
COSM218863c.3281G>Ap.G1094DSubstitution - MissensePancreas
COSM5037017c.6646C>Tp.L2216LSubstitution - coding silentOesophagus
COSM740285c.3190G>Ap.E1064KSubstitution - MissenseLung
COSM3381500c.5006T>Gp.F1669CSubstitution - MissensePancreas
COSM3729940c.5413delGp.G1806fs*27Deletion - FrameshiftStomach
COSM3994702c.5271G>Ap.K1757KSubstitution - coding silentKidney
COSM3697630c.5473C>Tp.R1825CSubstitution - MissenseLarge_intestine
COSM1642928c.3169C>Tp.R1057*Substitution - NonsenseSkin
COSM4646134c.5096G>Tp.R1699MSubstitution - MissenseLarge_intestine
COSM4930812c.6295A>Tp.R2099WSubstitution - MissenseLiver
COSM5019600c.3960-7A>Gp.?UnknownSoft_tissue
COSM341440c.1659A>Gp.P553PSubstitution - coding silentLung
COSM4170081c.190_192delCAGp.Q73delQDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM3022243c.1551C>Tp.Y517YSubstitution - coding silentLarge_intestine
COSM5623685c.786C>Ap.S262RSubstitution - MissenseOesophagus
COSM3859968c.1958C>Tp.A653VSubstitution - MissenseStomach
COSM5686192c.4002C>Tp.P1334PSubstitution - coding silentSoft_tissue
COSM3920986c.6496C>Tp.P2166SSubstitution - MissenseSkin
COSM3674602c.2095G>Tp.G699WSubstitution - MissenseProstate
COSM3622273c.2679C>Ap.F893LSubstitution - MissenseSkin
COSM3781610c.768C>Ap.G256GSubstitution - coding silentLarge_intestine
COSM301705c.5587_5588delCTp.S1864fs*8Deletion - FrameshiftCentral_nervous_system
COSM5061583c.3955C>Tp.R1319*Substitution - NonsenseStomach
COSM4915091c.3261C>Gp.V1087VSubstitution - coding silentLiver
COSM3783954c.6354G>Ap.S2118SSubstitution - coding silentProstate
COSM4969524c.1177_1178insCCGp.S393_Q394insAInsertion - In frameCentral_nervous_system
COSM740277c.5260G>Ap.A1754TSubstitution - MissenseLung
COSM4663252c.3754A>Gp.M1252VSubstitution - MissenseLarge_intestine
COSM4006183c.4683G>Ap.K1561KSubstitution - coding silentUrinary_tract
COSM1236669c.3959+4A>Gp.?UnknownAutonomic_ganglia
COSM4170079c.165_166insCAGCAGp.Q73_H74insQQInsertion - In frameHaematopoietic_and_lymphoid_tissue
COSM216002c.5914C>Tp.R1972*Substitution - NonsenseCentral_nervous_system
COSM3622275c.2691C>Tp.N897NSubstitution - coding silentSkin
COSM1075365c.6114G>Tp.M2038ISubstitution - MissenseEndometrium
COSM4911636c.4343C>Ap.A1448ESubstitution - MissenseLiver
COSM3829518c.3106G>Ap.G1036RSubstitution - MissenseBreast
COSM4006185c.5316G>Ap.K1772KSubstitution - coding silentUrinary_tract
COSM3366361c.3345C>Gp.T1115TSubstitution - coding silentKidney
COSM1672938c.4816C>Tp.R1606*Substitution - NonsenseLarge_intestine
COSM5966713c.1021_1046del26p.A341fs*127Deletion - FrameshiftAdrenal_gland
COSM4767423c.5356G>Cp.D1786HSubstitution - MissenseBiliary_tract
COSM3727928c.3857G>Ap.S1286NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM4613674c.1640_1641insGCAp.Q548_P549insQInsertion - In frameLarge_intestine
COSM112022c.5667_5668insTp.Q1890fs*36Insertion - FrameshiftOvary
COSM1075344c.198G>Ap.Q66QSubstitution - coding silentEndometrium
COSM740284c.3797G>Tp.G1266VSubstitution - MissenseLung
COSM5772523c.4874T>Gp.L1625RSubstitution - MissenseBreast
COSM483608c.2408T>Ap.M803KSubstitution - MissenseKidney
COSM1672938c.4816C>Tp.R1606*Substitution - NonsenseLarge_intestine
COSM1075359c.5298C>Tp.F1766FSubstitution - coding silentSkin
COSM3622305c.6592C>Tp.L2198FSubstitution - MissenseSkin
COSM223135c.4051C>Tp.Q1351*Substitution - NonsenseSkin
COSM740275c.5347G>Cp.D1783HSubstitution - MissenseLung
COSM3381498c.4674G>Ap.P1558PSubstitution - coding silentPancreas
COSM174860c.6328C>Tp.R2110*Substitution - NonsenseOesophagus
COSM5230002c.6279delCp.Y2094fs*4Deletion - FrameshiftBreast
COSM4663244c.1889G>Tp.S630ISubstitution - MissenseLarge_intestine
COSM3948315c.2627C>Tp.A876VSubstitution - MissenseLung
COSM1441824c.4429C>Tp.R1477CSubstitution - MissenseLarge_intestine
COSM309266c.2493T>Ap.A831ASubstitution - coding silentLung
COSM5996929c.6042C>Gp.S2014SSubstitution - coding silentProstate
COSM32748c.2267G>Cp.G756ASubstitution - MissenseBreast
COSM1187199c.3658G>Cp.D1220HSubstitution - MissenseLung
COSM3829518c.3106G>Ap.G1036RSubstitution - MissenseBreast
COSM1672938c.4816C>Tp.R1606*Substitution - NonsenseLarge_intestine
COSM4935861c.125T>Ap.L42HSubstitution - MissenseLiver
COSM3393942c.3347C>Ap.S1116*Substitution - NonsensePancreas
COSM1672938c.4816C>Tp.R1606*Substitution - NonsenseLarge_intestine
COSM4917618c.3149A>Gp.E1050GSubstitution - MissenseLiver
COSM1567957c.5872G>Ap.G1958RSubstitution - MissenseLarge_intestine
COSM5756809c.4192C>Tp.R1398CSubstitution - MissenseLarge_intestine
COSM3381372c.4412C>Tp.P1471LSubstitution - MissensePancreas
COSM1075355c.4672C>Tp.P1558SSubstitution - MissenseEndometrium
COSM450798c.4601G>Ap.R1534KSubstitution - MissenseBreast
COSM3948313c.2042G>Ap.G681DSubstitution - MissenseLung
COSM3022258c.1772C>Gp.P591RSubstitution - MissenseLarge_intestine
COSM3022375c.4263G>Ap.Q1421QSubstitution - coding silentLarge_intestine
COSM5017418c.1778A>Gp.H593RSubstitution - MissenseSoft_tissue
COSM3622285c.4147C>Tp.Q1383*Substitution - NonsenseSkin
COSM165982c.5632delCp.Q1879fs*77Deletion - FrameshiftBreast
COSM450801c.6232G>Tp.V2078LSubstitution - MissenseBreast
COSM4793138c.3285G>Ap.L1095LSubstitution - coding silentLiver
COSM3859984c.4393G>Tp.G1465CSubstitution - MissenseStomach
COSM450796c.2739C>Gp.N913KSubstitution - MissenseBreast
COSM4956465c.5776C>Tp.R1926*Substitution - NonsenseLiver
COSM309266c.2493T>Ap.A831ASubstitution - coding silentSoft_tissue
COSM1075364c.6049C>Tp.L2017LSubstitution - coding silentEndometrium
COSM5357611c.4859G>Ap.R1620HSubstitution - MissenseLarge_intestine
COSM3829522c.4572G>Ap.T1524TSubstitution - coding silentBreast
COSM3859998c.5717G>Tp.R1906MSubstitution - MissenseStomach
COSM1567959c.3712C>Tp.P1238SSubstitution - MissenseLarge_intestine
COSM383477c.6196G>Tp.E2066*Substitution - NonsenseLung
COSM4663258c.5488delCp.L1832fs*1Deletion - FrameshiftLarge_intestine
COSM1716951c.5181delGp.E1728fs*20Deletion - FrameshiftOvary
COSM1075345c.1980delCp.P661fs*13Deletion - FrameshiftEndometrium
COSM3622269c.2348C>Tp.S783FSubstitution - MissenseSkin
COSM1441808c.1520G>Ap.R507QSubstitution - MissenseLarge_intestine
COSM740281c.4353T>Cp.N1451NSubstitution - coding silentLung
COSM351347c.6505C>Tp.L2169LSubstitution - coding silentLung
COSM5404708c.3934C>Tp.P1312SSubstitution - MissenseSkin
COSM1621134c.3277G>Ap.G1093RSubstitution - MissenseLiver
COSM4767586c.189A>Gp.Q63QSubstitution - coding silentLarge_intestine
COSM5975873c.787_792delGGAGGAp.G269_G270delGGDeletion - In frameUpper_aerodigestive_tract
COSM1441834c.5920C>Tp.P1974SSubstitution - MissenseLarge_intestine
COSM4160319c.4536G>Tp.Q1512HSubstitution - MissenseThyroid
COSM5607860c.4410C>Tp.P1470PSubstitution - coding silentSkin
COSM4387252c.1528G>Cp.G510RSubstitution - MissenseLung
COSM4406882c.4578G>Ap.P1526PSubstitution - coding silentSoft_tissue
COSM4802669c.6584C>Ap.S2195*Substitution - NonsenseLiver
COSM4767421c.5368C>Tp.R1790CSubstitution - MissenseBiliary_tract
COSM4394220c.1950C>Tp.S650SSubstitution - coding silentSkin
COSM421000c.3209C>Tp.S1070LSubstitution - MissenseUrinary_tract
COSM5422318c.3375G>Ap.K1125KSubstitution - coding silentProstate
COSM1075347c.3359C>Tp.A1120VSubstitution - MissenseEndometrium
COSM1731935c.744_745insGGCp.G261_S262insGInsertion - In frameThyroid
COSM3410733c.2880C>Tp.D960DSubstitution - coding silentCentral_nervous_system
COSM159176c.3390C>Gp.Y1130*Substitution - NonsenseBreast
COSM5508619c.6027G>Tp.T2009TSubstitution - coding silentBiliary_tract
COSM5421688c.2264C>Tp.A755VSubstitution - MissenseProstate
COSM3622301c.6310C>Tp.R2104CSubstitution - MissenseSkin
COSM450795c.2187delTp.Q730fs*44Deletion - FrameshiftBreast
COSM1187195c.1606C>Tp.Q536*Substitution - NonsenseLung
COSM1716951c.5181delGp.E1728fs*20Deletion - FrameshiftOvary
COSM5607874c.5656C>Tp.P1886SSubstitution - MissenseSkin
COSM5623681c.780A>Cp.G260GSubstitution - coding silentOesophagus
COSM5996701c.2763G>Ap.T921TSubstitution - coding silentProstate
COSM405140c.769_789del21p.G257_G263delGGGGGSGDeletion - In frameLung
COSM3859986c.4408C>Gp.P1470ASubstitution - MissenseStomach
COSM4433126c.1436C>Gp.S479CSubstitution - MissenseOesophagus
COSM5580269c.6353C>Tp.S2118LSubstitution - MissenseSkin
COSM3859992c.4858C>Tp.R1620CSubstitution - MissenseStomach
COSM3859966c.1807A>Gp.R603GSubstitution - MissenseStomach
COSM5014659c.5858T>Ap.L1953QSubstitution - MissenseKidney
COSM159174c.2535G>Ap.M845ISubstitution - MissenseBreast
COSM3022504c.6608G>Tp.R2203LSubstitution - MissenseLarge_intestine
COSM3622281c.3851C>Tp.P1284LSubstitution - MissenseSkin
COSM3022391c.4406C>Tp.A1469VSubstitution - MissenseLarge_intestine
COSM1183565c.5118G>Tp.L1706FSubstitution - MissenseLarge_intestine
COSM1075360c.5410G>Ap.G1804SSubstitution - MissenseEndometrium
COSM3829524c.5962G>Tp.A1988SSubstitution - MissenseBreast
COSM5495286c.304G>Ap.G102RSubstitution - MissenseBiliary_tract
COSM1183559c.1528G>Ap.G510RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1621138c.3504G>Ap.S1168SSubstitution - coding silentLiver
COSM1075362c.5634C>Tp.P1878PSubstitution - coding silentEndometrium
COSM3381498c.4674G>Ap.P1558PSubstitution - coding silentPancreas
COSM309267c.3285G>Tp.L1095FSubstitution - MissenseSoft_tissue
COSM4171525c.5758C>Tp.Q1920*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM4763083c.1512C>Gp.I504MSubstitution - MissenseStomach
COSM1731937c.165_166insCAGp.Q73_H74insQInsertion - In frameUpper_aerodigestive_tract
COSM4797025c.2400G>Ap.G800GSubstitution - coding silentLiver
COSM3413922c.5535C>Tp.G1845GSubstitution - coding silentOesophagus
COSM3374114c.4144C>Tp.Q1382*Substitution - NonsenseThyroid
COSM3022327c.2843C>Tp.P948LSubstitution - MissenseBone
COSM5607846c.3551C>Tp.S1184FSubstitution - MissenseSkin
COSM4927968c.1727A>Gp.E576GSubstitution - MissenseLiver
COSM740280c.4686G>Tp.M1562ISubstitution - MissenseLung
COSM3781610c.768C>Ap.G256GSubstitution - coding silentKidney
COSM1731933c.840_841insGTGGCGp.A282_A283insVAInsertion - In frameCentral_nervous_system
COSM5641558c.1155C>Tp.P385PSubstitution - coding silentOesophagus
COSM3727066c.2705T>Cp.M902TSubstitution - MissenseSkin
COSM1165428c.3873G>Ap.M1291ISubstitution - MissenseLarge_intestine
COSM5996703c.3456G>Ap.G1152GSubstitution - coding silentProstate
COSM5975879c.5483C>Tp.P1828LSubstitution - MissenseUpper_aerodigestive_tract
COSM3860004c.6600C>Tp.H2200HSubstitution - coding silentStomach
COSM5429487c.2136G>Tp.Q712HSubstitution - MissenseOesophagus
COSM4425067c.5169C>Tp.D1723DSubstitution - coding silentOesophagus
COSM4160321c.5418T>Gp.G1806GSubstitution - coding silentThyroid
COSM4956465c.5776C>Tp.R1926*Substitution - NonsenseLiver
COSM4602419c.5226G>Cp.K1742NSubstitution - MissenseUpper_aerodigestive_tract
COSM5602844c.5868C>Tp.I1956ISubstitution - coding silentSkin
COSM309265c.3679G>Tp.D1227YSubstitution - MissenseSoft_tissue
COSM1731937c.165_166insCAGp.Q73_H74insQInsertion - In frameLarge_intestine
COSM4586405c.3165C>Tp.V1055VSubstitution - coding silentBone
COSM5404710c.5667C>Tp.I1889ISubstitution - coding silentSkin
COSM1075367c.6621C>Ap.I2207ISubstitution - coding silentEndometrium
COSM5720825c.2861C>Tp.P954LSubstitution - MissenseSkin
COSM218863c.3281G>Ap.G1094DSubstitution - MissensePancreas
COSM1075342c.75_76insCACp.H31_A32insHInsertion - In frameEndometrium
COSM5962197c.1100C>Ap.S367*Substitution - NonsenseBreast
COSM1075363c.5982G>Ap.W1994*Substitution - NonsenseEndometrium
COSM4969524c.1177_1178insCCGp.S393_Q394insAInsertion - In frameHaematopoietic_and_lymphoid_tissue
COSM1194909c.2812G>Tp.A938SSubstitution - MissenseLung
COSM4663264c.6574G>Ap.E2192KSubstitution - MissenseLarge_intestine
COSM3860006c.6608G>Ap.R2203QSubstitution - MissenseStomach
COSM450802c.6566G>Ap.R2189KSubstitution - MissenseBreast
COSM1311750c.1814C>Gp.S605*Substitution - NonsenseUrinary_tract
COSM5607868c.6432C>Tp.F2144FSubstitution - coding silentSkin
COSM4406882c.4578G>Ap.P1526PSubstitution - coding silentLiver
COSM3781610c.768C>Ap.G256GSubstitution - coding silentOesophagus
COSM5781483c.5938G>Cp.E1980QSubstitution - MissenseBreast
COSM3859994c.5016C>Ap.C1672*Substitution - NonsenseStomach
COSM5646460c.996C>Gp.L332LSubstitution - coding silentOesophagus
COSM1183555c.1640C>Tp.P547LSubstitution - MissenseLarge_intestine
COSM420999c.3928C>Tp.Q1310*Substitution - NonsenseUrinary_tract
COSM5019255c.1504A>Gp.I502VSubstitution - MissenseSoft_tissue
COSM1075349c.3836C>Tp.T1279MSubstitution - MissenseProstate
COSM4912860c.4273A>Gp.I1425VSubstitution - MissenseLiver
COSM5563223c.192G>Ap.Q64QSubstitution - coding silentProstate
COSM3859964c.1591G>Ap.V531MSubstitution - MissenseStomach
COSM5019600c.3960-7A>Gp.?UnknownSoft_tissue
COSM3622303c.6463C>Tp.Q2155*Substitution - NonsenseSkin
COSM5720825c.2861C>Tp.P954LSubstitution - MissenseSkin
COSM5979284c.1612G>Ap.G538SSubstitution - MissenseUpper_aerodigestive_tract
COSM5014657c.2729A>Tp.Q910LSubstitution - MissenseKidney
COSM1634601c.2191A>Gp.M731VSubstitution - MissenseLiver
COSM4160317c.4386C>Tp.G1462GSubstitution - coding silentThyroid
COSM1131994c.4643G>Ap.R1548HSubstitution - MissenseProstate
COSM3622297c.5735C>Tp.P1912LSubstitution - MissenseSkin
COSM5105952c.189_190insCAGCAGp.Q73_H74insQQInsertion - In frameLarge_intestine
COSM4663236c.745_747delGGCp.G261delGDeletion - In frameLarge_intestine
COSM301704c.2181A>Gp.R727RSubstitution - coding silentCentral_nervous_system
COSM165982c.5632delCp.Q1879fs*77Deletion - FrameshiftBreast
COSM3928190c.2202T>Ap.Y734*Substitution - NonsenseCentral_nervous_system
COSM4445381c.2979C>Tp.V993VSubstitution - coding silentSkin
COSM396179c.3455_3456GG>CTp.G1152>?ComplexLung
COSM5607858c.2014C>Tp.P672SSubstitution - MissenseSkin
COSM4839904c.3984T>Gp.Y1328*Substitution - NonsenseCervix
COSM4480254c.2188C>Gp.Q730ESubstitution - MissenseSkin
COSM3781610c.768C>Ap.G256GSubstitution - coding silentPancreas
COSM1658810c.4390delGp.G1464fs*12Deletion - FrameshiftSalivary_gland
COSM5996705c.4698G>Ap.M1566ISubstitution - MissenseProstate
COSM4794534c.4253G>Ap.G1418ESubstitution - MissenseLiver
COSM5607856c.3488C>Tp.P1163LSubstitution - MissenseSkin
COSM4799236c.8C>Tp.T3MSubstitution - MissenseLiver
COSM4663260c.6035A>Tp.N2012ISubstitution - MissenseLarge_intestine
COSM3859972c.2772G>Ap.P924PSubstitution - coding silentStomach
COSM1441822c.4181C>Tp.S1394LSubstitution - MissenseLarge_intestine
COSM5020366c.4470T>Cp.H1490HSubstitution - coding silentSoft_tissue
COSM1642928c.3169C>Tp.R1057*Substitution - NonsenseSkin
COSM4799236c.8C>Tp.T3MSubstitution - MissenseLiver
COSM5607866c.1868delCp.A623fs*3Deletion - FrameshiftSkin
COSM1441830c.5619C>Tp.D1873DSubstitution - coding silentLarge_intestine
COSM1441828c.5413G>Tp.G1805WSubstitution - MissenseLarge_intestine
COSM1621140c.6211C>Gp.L2071VSubstitution - MissenseLiver
COSM3859968c.1958C>Tp.A653VSubstitution - MissenseSkin
COSM5996703c.3456G>Ap.G1152GSubstitution - coding silentProstate
COSM4631072c.6344C>Tp.A2115VSubstitution - MissenseLarge_intestine
COSM4767586c.189A>Gp.Q63QSubstitution - coding silentLarge_intestine
COSM218863c.3281G>Ap.G1094DSubstitution - MissensePancreas
COSM216001c.5896G>Ap.E1966KSubstitution - MissenseCentral_nervous_system
COSM309265c.3679G>Tp.D1227YSubstitution - MissenseLung
COSM5601048c.3761G>Ap.R1254KSubstitution - MissenseSkin
COSM5061585c.4243C>Tp.Q1415*Substitution - NonsenseStomach
COSM1075349c.3836C>Tp.T1279MSubstitution - MissenseEndometrium
COSM3859978c.3794G>Tp.G1265VSubstitution - MissenseStomach
COSM483611c.6293T>Gp.V2098GSubstitution - MissenseKidney
COSM3720867c.4517C>Tp.S1506LSubstitution - MissenseUpper_aerodigestive_tract
COSM5506220c.6496delCp.P2167fs*8Deletion - FrameshiftBiliary_tract
COSM3381496c.2286G>Cp.Q762HSubstitution - MissensePancreas
COSM3022266c.1954C>Ap.H652NSubstitution - MissenseLarge_intestine
COSM4663236c.745_747delGGCp.G261delGDeletion - In frameKidney
COSM1698223c.64C>Gp.P22ASubstitution - MissenseSkin
COSM1187197c.1996C>Tp.P666SSubstitution - MissenseLung
COSM3829516c.3103A>Gp.T1035ASubstitution - MissenseBreast
COSM5810337c.5578G>Tp.D1860YSubstitution - MissenseLiver
COSM5550661c.2361G>Ap.A787ASubstitution - coding silentProstate
COSM3381498c.4674G>Ap.P1558PSubstitution - coding silentPancreas
COSM3022256c.1760delCp.G589fs*8Deletion - FrameshiftLarge_intestine
COSM1075343c.186G>Ap.Q62QSubstitution - coding silentEndometrium
COSM4663240c.1481C>Ap.P494HSubstitution - MissenseLarge_intestine
COSM740278c.4978G>Tp.G1660*Substitution - NonsenseLung
COSM1311748c.1650G>Tp.P550PSubstitution - coding silentUrinary_tract
COSM3769995c.1472C>Tp.S491FSubstitution - MissenseSoft_tissue
COSM3622299c.5890C>Tp.H1964YSubstitution - MissenseSkin
COSM1441814c.1989delCp.P664fs*10Deletion - FrameshiftLarge_intestine
COSM3684020c.2767G>Cp.A923PSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3860002c.5812T>Cp.S1938PSubstitution - MissenseStomach
COSM5908596c.1997C>Tp.P666LSubstitution - MissenseSkin
COSM3410731c.2786C>Tp.A929VSubstitution - MissenseStomach
COSM3622293c.4986C>Tp.L1662LSubstitution - coding silentSkin
COSM5733896c.25C>Tp.H9YSubstitution - MissensePancreas
COSM4663246c.3181T>Cp.F1061LSubstitution - MissenseLarge_intestine
COSM159176c.3390C>Gp.Y1130*Substitution - NonsenseBreast
COSM4663256c.4854G>Ap.A1618ASubstitution - coding silentLarge_intestine
COSM5902763c.4841-6C>Tp.?UnknownSkin
COSM5922493c.5641G>Ap.E1881KSubstitution - MissenseSkin
COSM4167420c.1567C>Tp.P523SSubstitution - MissenseCentral_nervous_system
COSM5019600c.3960-7A>Gp.?UnknownSoft_tissue
COSM5768857c.3810G>Ap.V1270VSubstitution - coding silentBreast
COSM4808194c.870A>Cp.A290ASubstitution - coding silentPancreas
COSM4619281c.1629C>Ap.Y543*Substitution - NonsenseLarge_intestine
COSM3859974c.2896A>Gp.T966ASubstitution - MissenseStomach
COSM1075359c.5298C>Tp.F1766FSubstitution - coding silentEndometrium
COSM6012573c.6121C>Tp.P2041SSubstitution - MissenseSkin
COSM6012571c.2411G>Tp.G804VSubstitution - MissenseSkin
COSM3674600c.1982C>Ap.P661QSubstitution - MissenseProstate
COSM1621136c.3348A>Gp.S1116SSubstitution - coding silentLiver
COSM1183561c.6581G>Ap.R2194HSubstitution - MissenseLarge_intestine
COSM3622267c.2346C>Gp.Y782*Substitution - NonsenseSkin
COSM3728410c.1765G>Ap.G589RSubstitution - MissenseBreast
COSM5990852c.75_76ins21p.H41_L42insHHHHAHHInsertion - In frameProstate
COSM3781610c.768C>Ap.G256GSubstitution - coding silentProstate
COSM309264c.2693A>Cp.Q898PSubstitution - MissenseLung
COSM1642928c.3169C>Tp.R1057*Substitution - NonsenseSkin
COSM3374116c.4969C>Ap.Q1657KSubstitution - MissenseThyroid
COSM3948317c.4209C>Tp.G1403GSubstitution - coding silentLung
COSM3022421c.5124C>Tp.D1708DSubstitution - coding silentProstate
COSM3622279c.3743T>Cp.M1248TSubstitution - MissenseSkin
COSM159175c.4829C>Tp.S1610FSubstitution - MissenseBreast
COSM4910980c.3160T>Ap.W1054RSubstitution - MissenseLiver
COSM3747655c.6513A>Cp.P2171PSubstitution - coding silentLiver
COSM5472198c.6016A>Gp.T2006ASubstitution - MissenseLarge_intestine
COSM5811371c.6086C>Ap.P2029QSubstitution - MissenseLiver
COSM1642928c.3169C>Tp.R1057*Substitution - NonsenseStomach
COSM207151c.5804G>Ap.R1935HSubstitution - MissenseThyroid
COSM3430296c.3948T>Gp.S1316RSubstitution - MissenseLarge_intestine
COSM1236671c.4307C>Tp.S1436LSubstitution - MissenseAutonomic_ganglia
COSM1441820c.3655C>Tp.H1219YSubstitution - MissenseLarge_intestine
COSM3697628c.195G>Ap.Q65QSubstitution - coding silentLarge_intestine
COSM4656598c.5884C>Tp.L1962FSubstitution - MissenseLarge_intestine
COSM370221c.5873G>Tp.G1958VSubstitution - MissenseLung
COSM3859968c.1958C>Tp.A653VSubstitution - MissenseStomach
COSM3396632c.5620G>Ap.A1874TSubstitution - MissenseProstate
COSM3410735c.4725C>Tp.T1575TSubstitution - coding silentCentral_nervous_system
COSM5959857c.889_890insGCAp.G297_G298insSInsertion - In frameThyroid
COSM3928194c.4591C>Gp.H1531DSubstitution - MissenseCentral_nervous_system
COSM740281c.4353T>Cp.N1451NSubstitution - coding silentLung
COSM5623683c.784A>Gp.S262GSubstitution - MissenseOesophagus
COSM5495845c.5554G>Cp.E1852QSubstitution - MissenseBiliary_tract
COSM5011706c.4430G>Ap.R1477HSubstitution - MissenseKidney
COSM5011708c.6001G>Tp.V2001FSubstitution - MissenseKidney
COSM1194909c.2812G>Tp.A938SSubstitution - MissenseLung
COSM4480599c.2222C>Tp.P741LSubstitution - MissenseSkin
COSM243048c.4270G>Ap.G1424RSubstitution - MissenseProstate
COSM3622295c.5704G>Tp.E1902*Substitution - NonsenseSkin
COSM3859970c.2667-2A>Gp.?UnknownStomach
COSM1731933c.840_841insGTGGCGp.A282_A283insVAInsertion - In frameHaematopoietic_and_lymphoid_tissue
COSM4160323c.5895C>Tp.H1965HSubstitution - coding silentThyroid
COSM4987088c.806G>Cp.G269ASubstitution - MissenseSoft_tissue
COSM1698225c.3481C>Tp.Q1161*Substitution - NonsenseSkin
COSM88713c.6496_6497insCp.P2168fs*6Insertion - FrameshiftOvary
COSM1075351c.4021G>Tp.G1341*Substitution - NonsenseEndometrium
COSM224313c.5988G>Ap.W1996*Substitution - NonsenseSkin
COSM1727866c.6097G>Tp.G2033CSubstitution - MissenseLiver
COSM4777220c.6524A>Gp.D2175GSubstitution - MissenseBreast
COSM1731937c.165_166insCAGp.Q73_H74insQInsertion - In frameHaematopoietic_and_lymphoid_tissue
COSM5469048c.2158+5G>Ap.?UnknownLarge_intestine
COSM1642928c.3169C>Tp.R1057*Substitution - NonsenseSkin
COSM290980c.4435_4442delGACGATATp.D1480fs*9Deletion - FrameshiftLarge_intestine
COSM3860002c.5812T>Cp.S1938PSubstitution - MissenseLarge_intestine
COSM4797119c.6045G>Ap.G2015GSubstitution - coding silentLiver
COSM3781610c.768C>Ap.G256GSubstitution - coding silentKidney
COSM1075359c.5298C>Tp.F1766FSubstitution - coding silentSkin
COSM1737295c.5384A>Gp.N1795SSubstitution - MissenseCentral_nervous_system
COSM4663242c.1857G>Ap.T619TSubstitution - coding silentLarge_intestine
COSM4794534c.4253G>Ap.G1418ESubstitution - MissenseLiver
COSM5607852c.2312C>Tp.P771LSubstitution - MissenseSkin
COSM5928778c.2158+1G>Ap.?UnknownSkin
COSM5673236c.3223G>Tp.V1075LSubstitution - MissenseSoft_tissue
COSM3674596c.1553C>Tp.P518LSubstitution - MissenseProstate
COSM1075359c.5298C>Tp.F1766FSubstitution - coding silentEndometrium
COSM5607864c.4836T>Gp.D1612ESubstitution - MissenseSkin
COSM1716951c.5181delGp.E1728fs*20Deletion - FrameshiftOvary
COSM5020593c.1764C>Tp.P588PSubstitution - coding silentSoft_tissue
COSM5655931c.160_198del39p.F55_Q67del13Deletion - In frameHaematopoietic_and_lymphoid_tissue
COSM740282c.4197G>Ap.R1399RSubstitution - coding silentLung
COSM4972093c.748G>Ap.G250SSubstitution - MissenseThyroid
COSM1742522c.2954C>Tp.P985LSubstitution - MissenseUrinary_tract
COSM5713538c.3382delAp.I1128fs*65Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1642928c.3169C>Tp.R1057*Substitution - NonsenseSkin
COSM5950915c.2944A>Gp.I982VSubstitution - MissenseProstate
COSM3781612c.1941G>Ap.S647SSubstitution - coding silentPancreas
COSM1075353c.4492G>Ap.V1498ISubstitution - MissenseEndometrium
COSM4663262c.6475C>Tp.H2159YSubstitution - MissenseLarge_intestine
COSM3783954c.6354G>Ap.S2118SSubstitution - coding silentOesophagus
COSM1238222c.6345G>Ap.A2115ASubstitution - coding silentOesophagus
COSM5503186c.4971G>Ap.Q1657QSubstitution - coding silentBiliary_tract
COSM5756809c.4192C>Tp.R1398CSubstitution - MissenseLarge_intestine
COSM1075366c.6606C>Tp.G2202GSubstitution - coding silentEndometrium
COSM1075348c.3510C>Ap.S1170SSubstitution - coding silentEndometrium
COSM1698225c.3481C>Tp.Q1161*Substitution - NonsenseSkin
COSM5979286c.3742A>Gp.M1248VSubstitution - MissenseUpper_aerodigestive_tract
COSM1075350c.3865C>Tp.Q1289*Substitution - NonsenseEndometrium
COSM1716951c.5181delGp.E1728fs*20Deletion - FrameshiftOvary
COSM1621136c.3348A>Gp.S1116SSubstitution - coding silentLiver
COSM5607854c.1839C>Tp.S613SSubstitution - coding silentSkin
COSM5975875c.3606C>Tp.H1202HSubstitution - coding silentUpper_aerodigestive_tract
COSM5893089c.6116T>Gp.V2039GSubstitution - MissenseSkin
COSM4406882c.4578G>Ap.P1526PSubstitution - coding silentSoft_tissue
COSM1441832c.5872G>Tp.G1958WSubstitution - MissenseLarge_intestine
COSM3859988c.4687C>Tp.Q1563*Substitution - NonsenseStomach
COSM1183563c.3349A>Cp.S1117RSubstitution - MissenseLarge_intestine
COSM5564106c.3170G>Ap.R1057QSubstitution - MissenseProstate
COSM5607870c.2456C>Tp.P819LSubstitution - MissenseSkin
COSM1075359c.5298C>Tp.F1766FSubstitution - coding silentSkin
COSM5720825c.2861C>Tp.P954LSubstitution - MissenseSkin
COSM3022409c.4857G>Ap.W1619*Substitution - NonsenseStomach
COSM3859976c.3699G>Tp.R1233RSubstitution - coding silentStomach
COSM4170077c.188_189insGCp.Q64fs*59Insertion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1075343c.186G>Ap.Q62QSubstitution - coding silentBiliary_tract
COSM3622289c.4632C>Tp.S1544SSubstitution - coding silentSkin
COSM5549930c.1205C>Gp.A402GSubstitution - MissenseProstate
COSM5996929c.6042C>Gp.S2014SSubstitution - coding silentProstate
COSM5518713c.1421G>Ap.G474DSubstitution - MissenseBiliary_tract
COSM5899504c.2452C>Tp.Q818*Substitution - NonsenseSkin
COSM4186698c.5110C>Ap.Q1704KSubstitution - MissenseKidney
COSM5607856c.3488C>Tp.P1163LSubstitution - MissenseSkin
COSM4793138c.3285G>Ap.L1095LSubstitution - coding silentLiver
COSM5607848c.1907G>Ap.S636NSubstitution - MissenseSkin
COSM3022248c.1592T>Cp.V531ASubstitution - MissenseLarge_intestine
COSM3622277c.3722C>Tp.P1241LSubstitution - MissenseSkin
COSM309264c.2693A>Cp.Q898PSubstitution - MissenseSoft_tissue
COSM450794c.1959G>Ap.A653ASubstitution - coding silentLarge_intestine
COSM740274c.6018G>Tp.T2006TSubstitution - coding silentLung
COSM3859988c.4687C>Tp.Q1563*Substitution - NonsenseSkin
COSM1698225c.3481C>Tp.Q1161*Substitution - NonsenseSkin
COSM450797c.3670G>Cp.D1224HSubstitution - MissenseBreast
COSM4663248c.3586A>Gp.T1196ASubstitution - MissenseLarge_intestine
COSM483609c.3708G>Ap.M1236ISubstitution - MissenseKidney
COSM5445872c.897_898insGGCp.G299_Y300insGInsertion - In frameThyroid
COSM4748045c.3527delCp.Q1178fs*15Deletion - FrameshiftStomach
COSM3829520c.3409A>Tp.K1137*Substitution - NonsenseBreast
COSM4171525c.5758C>Tp.Q1920*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM5005736c.6073A>Cp.S2025RSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3928196c.4678A>Gp.M1560VSubstitution - MissenseCentral_nervous_system
COSM740286c.1519C>Tp.R507WSubstitution - MissenseLung
COSM5503188c.6165C>Tp.N2055NSubstitution - coding silentBiliary_tract
COSM1075356c.4945A>Tp.T1649SSubstitution - MissenseEndometrium
COSM5975877c.3663A>Gp.P1221PSubstitution - coding silentUpper_aerodigestive_tract
COSM5607862c.6168G>Ap.S2056SSubstitution - coding silentSkin
COSM1075354c.4571C>Tp.T1524MSubstitution - MissenseEndometrium
COSM5455463c.4349G>Ap.R1450HSubstitution - MissenseLarge_intestine
COSM4186696c.2265delTp.G756fs*18Deletion - FrameshiftKidney
COSM1441812c.1934C>Tp.A645VSubstitution - MissenseLarge_intestine
COSM3622287c.4631C>Tp.S1544FSubstitution - MissenseSkin
COSM3734981c.5941G>Tp.E1981*Substitution - NonsenseHaematopoietic_and_lymphoid_tissue
COSM1245450c.3463A>Tp.K1155*Substitution - NonsenseOesophagus
COSM4763094c.2922+1G>Ap.?UnknownStomach
COSM3829526c.6386G>Cp.R2129TSubstitution - MissenseBreast
COSM5607850c.5063C>Ap.P1688HSubstitution - MissenseSkin
COSM4993701c.780_782delAGGp.G261delGDeletion - In frameHaematopoietic_and_lymphoid_tissue
COSM174860c.6328C>Tp.R2110*Substitution - NonsenseStomach
COSM1183551c.797G>Cp.G266ASubstitution - MissenseLarge_intestine
COSM1698227c.3887C>Tp.P1296LSubstitution - MissenseSkin
COSM1642932c.6331G>Tp.E2111*Substitution - NonsenseStomach
COSM1183557c.4250C>Tp.P1417LSubstitution - MissenseLarge_intestine
COSM3622265c.1852C>Tp.P618SSubstitution - MissenseSkin
COSM4918907c.4589A>Gp.N1530SSubstitution - MissenseLiver
COSM4421413c.6111G>Cp.W2037CSubstitution - MissensePleura
COSM1545496c.4217C>Tp.P1406LSubstitution - MissenseLarge_intestine
COSM3859980c.3919C>Tp.Q1307*Substitution - NonsenseStomach
COSM3729372c.2720C>Tp.P907LSubstitution - MissenseStomach
COSM397320c.1973C>Tp.S658FSubstitution - MissenseLung
COSM243049c.1159_1160insCGCp.P392_S393insPInsertion - In frameProstate
COSM5024885c.49G>Cp.A17PSubstitution - MissenseBreast
COSM4802669c.6584C>Ap.S2195*Substitution - NonsenseLiver
COSM5996707c.5480G>Ap.R1827HSubstitution - MissenseProstate
COSM5564287c.3634A>Cp.R1212RSubstitution - coding silentProstate
COSM5482030c.5350C>Tp.R1784*Substitution - NonsenseLarge_intestine
COSM5440315c.3996_3997insCCTAp.P1334fs*108Insertion - FrameshiftOesophagus
COSM3728410c.1765G>Ap.G589RSubstitution - MissenseSoft_tissue
COSM1731935c.744_745insGGCp.G261_S262insGInsertion - In frameHaematopoietic_and_lymphoid_tissue
COSM3022510c.6672A>Gp.V2224VSubstitution - coding silentLarge_intestine
COSM3622291c.4669C>Tp.L1557LSubstitution - coding silentSkin
COSM450800c.5294A>Cp.K1765TSubstitution - MissenseBreast
COSM5928776c.2158G>Ap.G720SSubstitution - MissenseSkin
COSM3829514c.46G>Ap.E16KSubstitution - MissenseBreast
COSM5460707c.5134A>Gp.K1712ESubstitution - MissenseLarge_intestine
COSM1634599c.1936C>Tp.Q646*Substitution - NonsenseLiver
COSM1621134c.3277G>Ap.G1093RSubstitution - MissenseLiver
COSM243047c.5265C>Ap.D1755ESubstitution - MissenseProstate
COSM1183559c.1528G>Ap.G510RSubstitution - MissenseLarge_intestine
COSM483610c.4056G>Cp.P1352PSubstitution - coding silentKidney
COSM5720825c.2861C>Tp.P954LSubstitution - MissenseSkin
COSM1731937c.165_166insCAGp.Q73_H74insQInsertion - In frameCentral_nervous_system
COSM5019255c.1504A>Gp.I502VSubstitution - MissenseSoft_tissue
COSM5611228c.3886_3887CC>TTp.P1296FSubstitution - MissenseSkin
COSM5596290c.3052C>Tp.P1018SSubstitution - MissenseSkin
COSM1163427c.6576A>Cp.E2192DSubstitution - MissensePancreas
COSM1471908c.2167G>Ap.A723TSubstitution - MissenseProstate
COSM3920982c.3462C>Ap.T1154TSubstitution - coding silentSkin
COSM4589822c.3792_3793insGp.M1267fs*36Insertion - FrameshiftSkin
COSM371984c.6042_6043CG>TTp.S2014>?ComplexLung
COSM3697628c.195G>Ap.Q65QSubstitution - coding silentLarge_intestine
COSM1642930c.5337G>Ap.L1779LSubstitution - coding silentStomach
COSM3674598c.1558C>Tp.Q520*Substitution - NonsenseProstate
COSM4663254c.4182G>Ap.S1394SSubstitution - coding silentLarge_intestine
COSM1441830c.5619C>Tp.D1873DSubstitution - coding silentLarge_intestine
COSM3859990c.4838T>Ap.I1613NSubstitution - MissenseStomach
COSM4797119c.6045G>Ap.G2015GSubstitution - coding silentLiver
> Text Mining based Variations
 
PMID Variation Cancer Evidence
27063598mutation (loss of function)LeukemiaOur sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex.
26892443mutationSpitzoid MelanomaIn addition, two tumors each contained a second fusion gene, ARID1B-SNX9 or PTPRZ1-NFAM1.
26336887mutationMesonephric CarcinomaMutations in chromatin remodeling genes (ARID1A, ARID1B, or SMARCA4) were present in 62% of mesonephric carcinomas.
25549701mutationMeningiomaFrom exome sequencing data, we identified several frequently mutated genes including NF2, MN1, ARID1B, SEMA4D, and MUC2, with private mutations in tumors.
25233892mutationCarcinosarcomaIn addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases.
23202128mutation; copy number lossNeuroblastomaAmong genes not previously known to be involved in neuroblastoma, chromosomal deletions and sequence alterations of the chromatin-remodeling genes ARID1A and ARID1B were identified in 8 of 71 tumors (11%) and were associated with early treatment failure and decreased survival.
22722201mutationBreast CarcinomaDriver mutations were identified in several new cancer genes including AKT2, ARID1B, CASP8, CDKN1B, MAP3K1, MAP3K13, NCOR1, SMARCD1 and TBX3.
22233809mutationPancreatic CarcinomaNotable among the alterations newly identified, genomic deletions, mutations, and rearrangements recurrently targeted genes encoding components of the SWItch/Sucrose NonFermentable (SWI/SNF) chromatin remodeling complex, including all three putative DNA binding subunits (ARID1A, ARID1B, and PBRM1) and both enzymatic subunits (SMARCA2 and SMARCA4).
22634756mutationHepatocellular CarcinomaMultiple chromatin regulators, including ARID1A, ARID1B, ARID2, MLL and MLL3, were mutated in 50% of the tumors.
24382590mutationColorectal CarcinomaWe found that in addition to ARID1A, which was mutated in 39% of the tumors (18/46), also ARID1B (13%, 6/46), ARID2 (13%, 6/46) and ARID4A (20%, 9/46) were frequently mutated.
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.
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).
27392123mutationLeukemiaSeven of the 240 patients were identified to have ZNF384 gene rearrangements including partner genes TCF3 (four patients), EWSR1 (one patient), EP300 (one patient), and the novel gene partner ARID1B (one patient).
27562491mutation (loss of function)Endometrial Undifferentiated Carcinoma; Undifferentiated Ovarian CarcinomaWe identified concurrent inactivating mutations involving ARID1A and ARID1B in 12 of 24 BRG1/INI1-intact, 0 of 3 INI1-deficient and 0 of 16 BRG1-deficient dedifferentiated carcinomas.
28122867mutationHepatosplenic T-cell LymphomaChromatin-modifying genes, including SETD2, INO80, and ARID1B, were commonly mutated in HSTL, affecting 62% of cases.
27723760mutationSchwannomaExome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 disruption, recurrent mutations in ARID1A, ARID1B and DDR1.
27723760mutationSchwannomaExome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 disruption, recurrent mutations in ARID1A, ARID1B and DDR1.
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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
Q8NFD5502SPhosphoserine-NoNone detected
Q8NFD5516SPhosphoserine-NoNone detected
Q8NFD5557RAsymmetric dimethylarginine-NoNone detected
Q8NFD51542SPhosphoserine-NoNone detected
Q8NFD51555SPhosphoserine-NoNone detected
Q8NFD51559SPhosphoserine-NoNone detected
Q8NFD51715SPhosphoserine-NoNone detected
Q8NFD51777KN6-acetyllysine-NoNone detected
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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 carcinoma194086.6316.107-0.4750.00155NS
BRCABreast invasive carcinoma11211006.8116.509-0.3172.92e-09NS
CESCCervical and endocervical cancers33066.5126.127NANANA
COADColon adenocarcinoma414596.2356.227-0.0340.652NS
ESCAEsophageal carcinoma111857.1377.001-0.1690.279NS
GBMGlioblastoma multiforme51666.4635.824NANANA
HNSCHead and Neck squamous cell carcinoma445226.5566.176-0.3740.000157NS
KIRCKidney renal clear cell carcinoma725346.4986.007-0.551.16e-20NS
KIRPKidney renal papillary cell carcinoma322916.5295.854-0.6634.2e-10Under
LAMLAcute Myeloid Leukemia0173NA8.091NANANA
LGGBrain Lower Grade Glioma0530NA6.375NANANA
LIHCLiver hepatocellular carcinoma503734.8124.563-0.2920.00358NS
LUADLung adenocarcinoma595176.3986.119-0.2540.000368NS
LUSCLung squamous cell carcinoma515016.4596.266-0.0730.399NS
OVOvarian serous cystadenocarcinoma0307NA6.563NANANA
PAADPancreatic adenocarcinoma41796.4746.128NANANA
PCPGPheochromocytoma and Paraganglioma31845.9085.963NANANA
PRADProstate adenocarcinoma524986.6166.379-0.270.0213NS
READRectum adenocarcinoma101676.2366.3210.1230.522NS
SARCSarcoma22635.656.222NANANA
SKCMSkin Cutaneous Melanoma14725.7636.226NANANA
STADStomach adenocarcinoma354156.9616.839-0.1230.203NS
TGCTTesticular Germ Cell Tumors0156NA6.079NANANA
THCAThyroid carcinoma595097.1016.668-0.3941.01e-10NS
THYMThymoma21206.8586.39NANANA
UCECUterine Corpus Endometrial Carcinoma355466.5956.295-0.3880.000186NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 8.2
Autonomic ganglia CHP212 7.2
Autonomic ganglia IMR32 8.3
Autonomic ganglia KELLY 7.6
Autonomic ganglia KPNRTBM1 8.3
Autonomic ganglia KPNSI9S 6.8
Autonomic ganglia KPNYN 7.6
Autonomic ganglia MHHNB11 7.5
Autonomic ganglia NB1 7.3
Autonomic ganglia NH6 7.7
Autonomic ganglia SHSY5Y 8.2
Autonomic ganglia SIMA 8
Autonomic ganglia SKNAS 6.2
Autonomic ganglia SKNBE2 7.4
Autonomic ganglia SKNDZ 7.5
Autonomic ganglia SKNFI 6.9
Autonomic ganglia SKNSH 7
Biliary tract HUCCT1 6.1
Biliary tract HUH28 7.3
Biliary tract SNU1079 6.3
Biliary tract SNU1196 6.9
Biliary tract SNU245 7.1
Biliary tract SNU308 6.4
Biliary tract SNU478 7.1
Bone 143B 6.6
Bone A673 6.9
Bone CADOES1 7.6
Bone CAL78 6.7
Bone G292CLONEA141B1 6.6
Bone HOS 7
Bone HS706T 6.8
Bone HS737T 6.5
Bone HS819T 6.4
Bone HS821T 6.7
Bone HS822T 6.2
Bone HS863T 6.5
Bone HS870T 6.2
Bone HS888T 6.7
Bone MG63 6.5
Bone MHHES1 7.6
Bone OUMS27 5.5
Bone RDES 7.2
Bone SJSA1 6.6
Bone SKES1 6.9
Bone SKNMC 7.9
Bone SW1353 6.7
Bone T173 6.2
Bone TC71 7.1
Bone U2OS 7
Breast AU565 7
Breast BT20 6.8
Breast BT474 7
Breast BT483 6.9
Breast BT549 6.9
Breast CAL120 6.9
Breast CAL148 7.4
Breast CAL51 7.8
Breast CAL851 5.7
Breast CAMA1 6.8
Breast DU4475 7.3
Breast EFM192A 6.8
Breast EFM19 7.6
Breast EVSAT 7.1
Breast HCC1143 6.8
Breast HCC1187 7.1
Breast HCC1395 6.8
Breast HCC1419 7.7
Breast HCC1428 6.9
Breast HCC1500 7.7
Breast HCC1569 6.6
Breast HCC1599 7.1
Breast HCC1806 7.1
Breast HCC1937 5.8
Breast HCC1954 6.5
Breast HCC202 5.9
Breast HCC2157 6.9
Breast HCC2218 7
Breast HCC38 6.4
Breast HCC70 6.6
Breast HDQP1 7.4
Breast HMC18 6.9
Breast HS274T 6.5
Breast HS281T 6.6
Breast HS343T 6.7
Breast HS578T 6.3
Breast HS606T 6.7
Breast HS739T 6.6
Breast HS742T 6.5
Breast JIMT1 6.7
Breast KPL1 6.6
Breast MCF7 6.2
Breast MDAMB134VI 7.3
Breast MDAMB157 6.4
Breast MDAMB175VII 7
Breast MDAMB231 5.8
Breast MDAMB361 7
Breast MDAMB415 6.5
Breast MDAMB436 6.4
Breast MDAMB453 7.2
Breast MDAMB468 6.7
Breast SKBR3 7.2
Breast T47D 7
Breast UACC812 7.4
Breast UACC893 7.4
Breast YMB1 6.8
Breast ZR751 6.5
Breast ZR7530 7.3
Central nervous system 1321N1 6.9
Central nervous system 42MGBA 6.8
Central nervous system 8MGBA 6.6
Central nervous system A172 6.7
Central nervous system AM38 6.3
Central nervous system BECKER 6.9
Central nervous system CAS1 7.1
Central nervous system CCFSTTG1 6.6
Central nervous system D283MED 7.3
Central nervous system D341MED 7.8
Central nervous system DAOY 7.9
Central nervous system DBTRG05MG 6.4
Central nervous system DKMG 6.4
Central nervous system GAMG 6.7
Central nervous system GB1 6.8
Central nervous system GI1 6.9
Central nervous system GMS10 6.4
Central nervous system GOS3 6
Central nervous system H4 5.9
Central nervous system HS683 6.8
Central nervous system KALS1 7
Central nervous system KG1C 6.4
Central nervous system KNS42 6.7
Central nervous system KNS60 6.7
Central nervous system KNS81 6.8
Central nervous system KS1 6.7
Central nervous system LN18 6.3
Central nervous system LN229 6.1
Central nervous system M059K 7.2
Central nervous system MOGGCCM 6.9
Central nervous system MOGGUVW 6.9
Central nervous system NMCG1 6.5
Central nervous system ONS76 6.8
Central nervous system SF126 6.4
Central nervous system SF295 6.3
Central nervous system SNB19 6.9
Central nervous system SNU1105 7.3
Central nervous system SNU201 7
Central nervous system SNU466 6.1
Central nervous system SNU489 7.2
Central nervous system SNU626 6.8
Central nervous system SNU738 7.1
Central nervous system SW1088 6.6
Central nervous system SW1783 6.8
Central nervous system T98G 6.1
Central nervous system TM31 7.4
Central nervous system U118MG 7.1
Central nervous system U138MG 6.9
Central nervous system U251MG 6.5
Central nervous system U87MG 6.4
Central nervous system YH13 7
Central nervous system YKG1 6.7
Endometrium AN3CA 7.2
Endometrium COLO684 7.4
Endometrium EFE184 6.2
Endometrium EN 6.8
Endometrium ESS1 6
Endometrium HEC108 7.5
Endometrium HEC151 6.7
Endometrium HEC1A 6.9
Endometrium HEC1B 6.7
Endometrium HEC251 6.2
Endometrium HEC265 6.9
Endometrium HEC50B 6.9
Endometrium HEC59 7.2
Endometrium HEC6 7.6
Endometrium ISHIKAWAHERAKLIO02ER 7
Endometrium JHUEM1 6.7
Endometrium JHUEM2 7.4
Endometrium JHUEM3 6.8
Endometrium KLE 6.1
Endometrium MFE280 6.5
Endometrium MFE296 6
Endometrium MFE319 6.5
Endometrium RL952 6.9
Endometrium SNGM 6.7
Endometrium SNU1077 7.7
Endometrium SNU685 6.9
Endometrium TEN 6.3
Haematopoietic and lymphoid 697 8
Haematopoietic and lymphoid A3KAW 6.7
Haematopoietic and lymphoid A4FUK 7.6
Haematopoietic and lymphoid ALLSIL 8
Haematopoietic and lymphoid AML193 7.9
Haematopoietic and lymphoid AMO1 7.4
Haematopoietic and lymphoid BCP1 6.8
Haematopoietic and lymphoid BDCM 7.8
Haematopoietic and lymphoid BL41 8.2
Haematopoietic and lymphoid BL70 7.6
Haematopoietic and lymphoid BV173 7.6
Haematopoietic and lymphoid CA46 7.9
Haematopoietic and lymphoid CI1 7.6
Haematopoietic and lymphoid CMK115 7.3
Haematopoietic and lymphoid CMK86 8
Haematopoietic and lymphoid CMK 7.1
Haematopoietic and lymphoid CMLT1 7.8
Haematopoietic and lymphoid COLO775 7
Haematopoietic and lymphoid DAUDI 7.9
Haematopoietic and lymphoid DB 7.4
Haematopoietic and lymphoid DEL 7
Haematopoietic and lymphoid DND41 7.8
Haematopoietic and lymphoid DOHH2 8.9
Haematopoietic and lymphoid EB1 7.4
Haematopoietic and lymphoid EB2 7.3
Haematopoietic and lymphoid EHEB 7.6
Haematopoietic and lymphoid EJM 6.8
Haematopoietic and lymphoid EM2 8.3
Haematopoietic and lymphoid EOL1 8.1
Haematopoietic and lymphoid F36P 8.2
Haematopoietic and lymphoid GA10 7.7
Haematopoietic and lymphoid GDM1 6.9
Haematopoietic and lymphoid GRANTA519 8.6
Haematopoietic and lymphoid HDLM2 7.5
Haematopoietic and lymphoid HDMYZ 6.9
Haematopoietic and lymphoid HEL9217 7.2
Haematopoietic and lymphoid HEL 7.7
Haematopoietic and lymphoid HH 7
Haematopoietic and lymphoid HL60 7.6
Haematopoietic and lymphoid HPBALL 8
Haematopoietic and lymphoid HS604T 6.4
Haematopoietic and lymphoid HS611T 7.4
Haematopoietic and lymphoid HS616T 6.4
Haematopoietic and lymphoid HS751T 6.5
Haematopoietic and lymphoid HT 7.4
Haematopoietic and lymphoid HTK 6.8
Haematopoietic and lymphoid HUNS1 7.6
Haematopoietic and lymphoid HUT102 7
Haematopoietic and lymphoid HUT78 7.3
Haematopoietic and lymphoid JEKO1 7.4
Haematopoietic and lymphoid JK1 7.4
Haematopoietic and lymphoid JM1 7.8
Haematopoietic and lymphoid JURKAT 7.6
Haematopoietic and lymphoid JURLMK1 7.8
Haematopoietic and lymphoid JVM2 6.7
Haematopoietic and lymphoid JVM3 8
Haematopoietic and lymphoid K562 6.7
Haematopoietic and lymphoid KARPAS299 7.1
Haematopoietic and lymphoid KARPAS422 8.2
Haematopoietic and lymphoid KARPAS620 8.9
Haematopoietic and lymphoid KASUMI1 7.9
Haematopoietic and lymphoid KASUMI2 8.6
Haematopoietic and lymphoid KASUMI6 8.7
Haematopoietic and lymphoid KCL22 8
Haematopoietic and lymphoid KE37 7.9
Haematopoietic and lymphoid KE97 6.9
Haematopoietic and lymphoid KG1 7.4
Haematopoietic and lymphoid KHM1B 7.3
Haematopoietic and lymphoid KIJK 6.5
Haematopoietic and lymphoid KMH2 7.7
Haematopoietic and lymphoid KMM1 7.3
Haematopoietic and lymphoid KMS11 7.5
Haematopoietic and lymphoid KMS12BM 7.3
Haematopoietic and lymphoid KMS18 7.7
Haematopoietic and lymphoid KMS20 7.5
Haematopoietic and lymphoid KMS21BM 7
Haematopoietic and lymphoid KMS26 7.5
Haematopoietic and lymphoid KMS27 5.9
Haematopoietic and lymphoid KMS28BM 7.3
Haematopoietic and lymphoid KMS34 6.8
Haematopoietic and lymphoid KO52 8.5
Haematopoietic and lymphoid KOPN8 8
Haematopoietic and lymphoid KU812 8.4
Haematopoietic and lymphoid KYO1 7.4
Haematopoietic and lymphoid L1236 6.8
Haematopoietic and lymphoid L363 7.5
Haematopoietic and lymphoid L428 7
Haematopoietic and lymphoid L540 6.8
Haematopoietic and lymphoid LAMA84 8.3
Haematopoietic and lymphoid LOUCY 7.7
Haematopoietic and lymphoid LP1 7.5
Haematopoietic and lymphoid M07E 7.8
Haematopoietic and lymphoid MC116 7.3
Haematopoietic and lymphoid ME1 8.1
Haematopoietic and lymphoid MEC1 7.7
Haematopoietic and lymphoid MEC2 7.8
Haematopoietic and lymphoid MEG01 7.4
Haematopoietic and lymphoid MHHCALL2 8.3
Haematopoietic and lymphoid MHHCALL3 8.3
Haematopoietic and lymphoid MHHCALL4 8.6
Haematopoietic and lymphoid MINO 7.9
Haematopoietic and lymphoid MJ 7.2
Haematopoietic and lymphoid MM1S 6.5
Haematopoietic and lymphoid MOLM13 7.6
Haematopoietic and lymphoid MOLM16 7.4
Haematopoietic and lymphoid MOLM6 7.6
Haematopoietic and lymphoid MOLP2 6.7
Haematopoietic and lymphoid MOLP8 8.3
Haematopoietic and lymphoid MOLT13 8.7
Haematopoietic and lymphoid MOLT16 7.7
Haematopoietic and lymphoid MOLT4 7.3
Haematopoietic and lymphoid MONOMAC1 7.3
Haematopoietic and lymphoid MONOMAC6 7.5
Haematopoietic and lymphoid MOTN1 7.7
Haematopoietic and lymphoid MUTZ5 8.3
Haematopoietic and lymphoid MV411 7.2
Haematopoietic and lymphoid NALM19 9.2
Haematopoietic and lymphoid NALM1 8.6
Haematopoietic and lymphoid NALM6 8
Haematopoietic and lymphoid NAMALWA 8
Haematopoietic and lymphoid NB4 7.7
Haematopoietic and lymphoid NCIH929 7.2
Haematopoietic and lymphoid NCO2 8.3
Haematopoietic and lymphoid NOMO1 6.9
Haematopoietic and lymphoid NUDHL1 7.7
Haematopoietic and lymphoid NUDUL1 8.8
Haematopoietic and lymphoid OCIAML2 7.5
Haematopoietic and lymphoid OCIAML3 7.2
Haematopoietic and lymphoid OCIAML5 7.4
Haematopoietic and lymphoid OCILY10 7.9
Haematopoietic and lymphoid OCILY19 9.2
Haematopoietic and lymphoid OCILY3 6.8
Haematopoietic and lymphoid OCIM1 7.9
Haematopoietic and lymphoid OPM2 8.2
Haematopoietic and lymphoid P12ICHIKAWA 7.5
Haematopoietic and lymphoid P31FUJ 7
Haematopoietic and lymphoid P3HR1 7.2
Haematopoietic and lymphoid PCM6 6.9
Haematopoietic and lymphoid PEER 7.4
Haematopoietic and lymphoid PF382 7.6
Haematopoietic and lymphoid PFEIFFER 7.4
Haematopoietic and lymphoid PL21 8
Haematopoietic and lymphoid RAJI 7.2
Haematopoietic and lymphoid RCHACV 8.4
Haematopoietic and lymphoid REC1 7.2
Haematopoietic and lymphoid REH 8.4
Haematopoietic and lymphoid RI1 7.2
Haematopoietic and lymphoid RL 7.1
Haematopoietic and lymphoid RPMI8226 7.2
Haematopoietic and lymphoid RPMI8402 9.1
Haematopoietic and lymphoid RS411 7.6
Haematopoietic and lymphoid SEM 8.5
Haematopoietic and lymphoid SET2 7.7
Haematopoietic and lymphoid SIGM5 7.3
Haematopoietic and lymphoid SKM1 7.3
Haematopoietic and lymphoid SKMM2 7.4
Haematopoietic and lymphoid SR786 7.3
Haematopoietic and lymphoid ST486 7.8
Haematopoietic and lymphoid SUDHL10 7.9
Haematopoietic and lymphoid SUDHL1 6.7
Haematopoietic and lymphoid SUDHL4 8.2
Haematopoietic and lymphoid SUDHL5 6.3
Haematopoietic and lymphoid SUDHL6 8
Haematopoietic and lymphoid SUDHL8 9.7
Haematopoietic and lymphoid SUPB15 7.8
Haematopoietic and lymphoid SUPHD1 6.9
Haematopoietic and lymphoid SUPM2 6.7
Haematopoietic and lymphoid SUPT11 7
Haematopoietic and lymphoid SUPT1 7.3
Haematopoietic and lymphoid TALL1 8.3
Haematopoietic and lymphoid TF1 7.5
Haematopoietic and lymphoid THP1 7.4
Haematopoietic and lymphoid TO175T 6.6
Haematopoietic and lymphoid TOLEDO 7.8
Haematopoietic and lymphoid U266B1 7.4
Haematopoietic and lymphoid U937 7.8
Haematopoietic and lymphoid UT7 8.6
Haematopoietic and lymphoid WSUDLCL2 7.8
Kidney 769P 6.9
Kidney 786O 6.2
Kidney A498 5.9
Kidney A704 6
Kidney ACHN 6.3
Kidney BFTC909 6.9
Kidney CAKI1 6.6
Kidney CAKI2 4.9
Kidney CAL54 6.8
Kidney KMRC1 6.9
Kidney KMRC20 7
Kidney KMRC2 6.9
Kidney KMRC3 5.6
Kidney OSRC2 6.3
Kidney RCC10RGB 6
Kidney SNU1272 5.9
Kidney SNU349 6.9
Kidney TUHR10TKB 7
Kidney TUHR14TKB 6.1
Kidney TUHR4TKB 6.6
Kidney VMRCRCW 6.5
Kidney VMRCRCZ 6.9
Large intestine C2BBE1 6.4
Large intestine CCK81 7.2
Large intestine CL11 6.5
Large intestine CL14 7.4
Large intestine CL34 7.2
Large intestine CL40 7.1
Large intestine COLO205 6.5
Large intestine COLO320 7.1
Large intestine COLO678 6.6
Large intestine CW2 6.8
Large intestine DLD1 6.3
Large intestine GP2D 7
Large intestine HCC56 6.9
Large intestine HCT116 6.7
Large intestine HCT15 6.4
Large intestine HS675T 6.3
Large intestine HS698T 6.8
Large intestine HT115 6.9
Large intestine HT29 6.9
Large intestine HT55 7.3
Large intestine KM12 6.8
Large intestine LOVO 7
Large intestine LS1034 7
Large intestine LS123 6.7
Large intestine LS180 7.3
Large intestine LS411N 7.2
Large intestine LS513 6.8
Large intestine MDST8 6.7
Large intestine NCIH508 6.8
Large intestine NCIH716 6.8
Large intestine NCIH747 7.1
Large intestine OUMS23 7.5
Large intestine RCM1 6.7
Large intestine RKO 6.4
Large intestine SKCO1 7.4
Large intestine SNU1040 6.6
Large intestine SNU1197 6.7
Large intestine SNU175 7.3
Large intestine SNU283 7
Large intestine SNU407 7.4
Large intestine SNU503 6.6
Large intestine SNU61 7.2
Large intestine SNU81 7.4
Large intestine SNUC1 6.9
Large intestine SNUC2A 7.6
Large intestine SNUC4 7.2
Large intestine SNUC5 7.4
Large intestine SW1116 7.4
Large intestine SW1417 7
Large intestine SW1463 6.8
Large intestine SW403 7.1
Large intestine SW480 6
Large intestine SW48 6.9
Large intestine SW620 7
Large intestine SW837 6.9
Large intestine SW948 7
Large intestine T84 7.3
Liver ALEXANDERCELLS 6.9
Liver C3A 7
Liver HEP3B217 7
Liver HEPG2 7.1
Liver HLE 6.8
Liver HLF 6.8
Liver HUH1 6.4
Liver HUH6 6.8
Liver HUH7 6.9
Liver JHH1 5.6
Liver JHH2 7.1
Liver JHH4 6.8
Liver JHH5 6.3
Liver JHH6 7
Liver JHH7 7.7
Liver LI7 7
Liver PLCPRF5 7
Liver SKHEP1 6.6
Liver SNU182 7.4
Liver SNU387 7.1
Liver SNU398 7.2
Liver SNU423 7.2
Liver SNU449 6.5
Liver SNU475 6.3
Liver SNU761 6.6
Liver SNU878 6.3
Liver SNU886 7.4
Lung A549 5.9
Lung ABC1 6.7
Lung BEN 6.7
Lung CAL12T 6.3
Lung CALU1 6.6
Lung CALU3 6.5
Lung CALU6 6.9
Lung CHAGOK1 6.9
Lung COLO668 7.5
Lung COLO699 8.1
Lung CORL105 6
Lung CORL23 6.2
Lung CORL24 7.8
Lung CORL279 7.4
Lung CORL311 7.6
Lung CORL47 7.1
Lung CORL51 7.8
Lung CORL88 8.7
Lung CORL95 7.5
Lung CPCN 7.3
Lung DMS114 6.9
Lung DMS153 6.7
Lung DMS273 7
Lung DMS454 6.9
Lung DMS53 7.6
Lung DMS79 7.5
Lung DV90 6.7
Lung EBC1 6.4
Lung EPLC272H 5.7
Lung HARA 6.4
Lung HCC1171 6.7
Lung HCC1195 6.4
Lung HCC15 6.8
Lung HCC2279 6.8
Lung HCC2935 7
Lung HCC33 7.8
Lung HCC366 6.5
Lung HCC4006 6.9
Lung HCC44 6.3
Lung HCC78 6.8
Lung HCC827 6.7
Lung HCC95 6.3
Lung HLC1 7
Lung HLFA 6.3
Lung HS229T 6.2
Lung HS618T 6.1
Lung IALM 6.1
Lung KNS62 6
Lung LC1F 6.6
Lung LC1SQSF 6.5
Lung LCLC103H 6.8
Lung LCLC97TM1 6.9
Lung LK2 7
Lung LOUNH91 6.4
Lung LU65 6.3
Lung LU99 6.2
Lung LUDLU1 6.3
Lung LXF289 6.8
Lung MORCPR 6.3
Lung NCIH1048 7.1
Lung NCIH1092 8.3
Lung NCIH1105 8.7
Lung NCIH1155 7
Lung NCIH1184 7.3
Lung NCIH1299 7
Lung NCIH1339 6.8
Lung NCIH1341 7.2
Lung NCIH1355 6.3
Lung NCIH1373 6.5
Lung NCIH1385 6.4
Lung NCIH1395 5
Lung NCIH1435 7.3
Lung NCIH1436 7.6
Lung NCIH1437 5.9
Lung NCIH146 7.8
Lung NCIH1563 6.4
Lung NCIH1568 6.7
Lung NCIH1573 6.5
Lung NCIH1581 7.7
Lung NCIH1618 7.5
Lung NCIH1623 5.7
Lung NCIH1648 6.9
Lung NCIH1650 6.7
Lung NCIH1651 6.3
Lung NCIH1666 6.4
Lung NCIH1693 6.5
Lung NCIH1694 7.2
Lung NCIH1703 7.5
Lung NCIH1734 7.1
Lung NCIH1755 6.4
Lung NCIH1781 7
Lung NCIH1792 5.9
Lung NCIH1793 5.8
Lung NCIH1836 7.4
Lung NCIH1838 5.8
Lung NCIH1869 6.5
Lung NCIH1876 8.5
Lung NCIH1915 6.4
Lung NCIH1930 6.9
Lung NCIH1944 6.4
Lung NCIH1963 7.1
Lung NCIH196 6.9
Lung NCIH1975 6.2
Lung NCIH2009 6.9
Lung NCIH2023 6.6
Lung NCIH2029 8.1
Lung NCIH2030 6.6
Lung NCIH2066 7.2
Lung NCIH2081 7.3
Lung NCIH2085 6.6
Lung NCIH2087 5.8
Lung NCIH209 6.9
Lung NCIH2106 7.7
Lung NCIH2110 6.4
Lung NCIH211 7.1
Lung NCIH2122 5.9
Lung NCIH2126 6.9
Lung NCIH2141 7.9
Lung NCIH2170 6.7
Lung NCIH2171 7.4
Lung NCIH2172 6.8
Lung NCIH2196 6.5
Lung NCIH2227 7.6
Lung NCIH2228 6
Lung NCIH226 6.7
Lung NCIH2286 6.7
Lung NCIH2291 5.9
Lung NCIH2342 7
Lung NCIH2347 5.6
Lung NCIH23 6.4
Lung NCIH2405 7.4
Lung NCIH2444 6.4
Lung NCIH292 6.7
Lung NCIH322 5
Lung NCIH3255 6.9
Lung NCIH358 6.3
Lung NCIH441 6
Lung NCIH446 6.6
Lung NCIH460 5.9
Lung NCIH510 7
Lung NCIH520 7
Lung NCIH522 7.5
Lung NCIH524 7.6
Lung NCIH526 6.8
Lung NCIH596 6.4
Lung NCIH647 6.1
Lung NCIH650 6.6
Lung NCIH661 6.9
Lung NCIH69 7.5
Lung NCIH727 6.9
Lung NCIH810 6.9
Lung NCIH82 7.3
Lung NCIH838 6.8
Lung NCIH841 7.9
Lung NCIH854 7.4
Lung NCIH889 6.7
Lung PC14 5.9
Lung RERFLCAD1 6.7
Lung RERFLCAD2 6.7
Lung RERFLCAI 7
Lung RERFLCKJ 6.9
Lung RERFLCMS 6.4
Lung RERFLCSQ1 6.9
Lung SBC5 7.2
Lung SCLC21H 7.3
Lung SHP77 7.9
Lung SKLU1 5.8
Lung SKMES1 6.4
Lung SQ1 5.1
Lung SW1271 7
Lung SW1573 7.4
Lung SW900 6.3
Lung VMRCLCD 7.3
Lung VMRCLCP 6.8
Oesophagus COLO680N 6.6
Oesophagus ECGI10 6.6
Oesophagus KYSE140 6.7
Oesophagus KYSE150 6.8
Oesophagus KYSE180 6.6
Oesophagus KYSE270 6.4
Oesophagus KYSE30 6.8
Oesophagus KYSE410 6.8
Oesophagus KYSE450 5.8
Oesophagus KYSE510 6.6
Oesophagus KYSE520 6
Oesophagus KYSE70 6.4
Oesophagus OE19 6.3
Oesophagus OE33 6.8
Oesophagus TE10 7.1
Oesophagus TE11 6.3
Oesophagus TE14 7.2
Oesophagus TE15 6.7
Oesophagus TE1 6.4
Oesophagus TE4 7
Oesophagus TE5 7
Oesophagus TE6 6.4
Oesophagus TE8 7
Oesophagus TE9 6.5
Oesophagus TT 6.5
Ovary 59M 7.1
Ovary A2780 5.4
Ovary CAOV3 5.5
Ovary CAOV4 5.8
Ovary COLO704 7.2
Ovary COV318 6.5
Ovary COV362 6.8
Ovary COV434 7.4
Ovary COV504 7.2
Ovary COV644 7
Ovary EFO21 6.3
Ovary EFO27 6.3
Ovary ES2 6.6
Ovary FUOV1 6.7
Ovary HEYA8 6.4
Ovary HS571T 6
Ovary IGROV1 6.5
Ovary JHOC5 6.9
Ovary JHOM1 7
Ovary JHOM2B 7.7
Ovary JHOS2 6.3
Ovary JHOS4 5.4
Ovary KURAMOCHI 7.5
Ovary MCAS 5.7
Ovary NIHOVCAR3 6.4
Ovary OAW28 7.3
Ovary OAW42 7
Ovary OC314 7.5
Ovary OC316 7.4
Ovary ONCODG1 6.8
Ovary OV56 6.4
Ovary OV7 6.9
Ovary OV90 6.9
Ovary OVCAR4 6.6
Ovary OVCAR8 6.7
Ovary OVISE 5.7
Ovary OVK18 7.2
Ovary OVKATE 5.8
Ovary OVMANA 6.9
Ovary OVSAHO 5.8
Ovary OVTOKO 5.5
Ovary RMGI 5.3
Ovary RMUGS 5.7
Ovary SKOV3 6.9
Ovary SNU119 6.8
Ovary SNU840 6.5
Ovary SNU8 7.2
Ovary TOV112D 7.6
Ovary TOV21G 7
Ovary TYKNU 5.5
Pancreas ASPC1 6.8
Pancreas BXPC3 6.5
Pancreas CAPAN1 6.4
Pancreas CAPAN2 6.3
Pancreas CFPAC1 6.2
Pancreas DANG 6.4
Pancreas HPAC 7.4
Pancreas HPAFII 6.2
Pancreas HS766T 6.1
Pancreas HUPT3 5.7
Pancreas HUPT4 6.9
Pancreas KCIMOH1 6.8
Pancreas KLM1 6.7
Pancreas KP2 5.8
Pancreas KP3 6.4
Pancreas KP4 7.5
Pancreas L33 6.6
Pancreas MIAPACA2 3.7
Pancreas PANC0203 6.4
Pancreas PANC0213 7.1
Pancreas PANC0327 6.3
Pancreas PANC0403 5.9
Pancreas PANC0504 6.6
Pancreas PANC0813 6.5
Pancreas PANC1005 5.9
Pancreas PANC1 7.1
Pancreas PATU8902 6.5
Pancreas PATU8988S 6.9
Pancreas PATU8988T 6.6
Pancreas PK1 6
Pancreas PK45H 6.9
Pancreas PK59 6.6
Pancreas PL45 6
Pancreas PSN1 6.4
Pancreas QGP1 7.1
Pancreas SNU213 7
Pancreas SNU324 6.5
Pancreas SNU410 6.5
Pancreas SU8686 7
Pancreas SUIT2 5.6
Pancreas SW1990 6
Pancreas T3M4 6.3
Pancreas TCCPAN2 5.8
Pancreas YAPC 7.2
Pleura ACCMESO1 6.5
Pleura DM3 6.5
Pleura ISTMES1 6.9
Pleura ISTMES2 6.4
Pleura JL1 6.9
Pleura MPP89 6.7
Pleura MSTO211H 6
Pleura NCIH2052 5.5
Pleura NCIH2452 7.1
Pleura NCIH28 6.7
Prostate 22RV1 6.9
Prostate DU145 5.8
Prostate LNCAPCLONEFGC 6.7
Prostate MDAPCA2B 6.9
Prostate NCIH660 7.2
Prostate PC3 6.1
Prostate VCAP 7
Salivary gland A253 7.1
Salivary gland YD15 6.5
Skin A101D 6.2
Skin A2058 6.9
Skin A375 6.4
Skin C32 6.7
Skin CHL1 6.4
Skin CJM 6.6
Skin COLO679 6.6
Skin COLO741 7.2
Skin COLO783 6.8
Skin COLO792 6.7
Skin COLO800 6.9
Skin COLO818 6.9
Skin COLO829 6.8
Skin COLO849 7.4
Skin G361 6.5
Skin GRM 6.9
Skin HMCB 6.8
Skin HS294T 6
Skin HS600T 6.1
Skin HS688AT 6.7
Skin HS695T 6.3
Skin HS839T 6.4
Skin HS852T 6.4
Skin HS895T 5.8
Skin HS934T 6.7
Skin HS936T 7.3
Skin HS939T 6.1
Skin HS940T 6.2
Skin HS944T 6.2
Skin HT144 6.4
Skin IGR1 6.8
Skin IGR37 6.9
Skin IGR39 6.4
Skin IPC298 6.7
Skin K029AX 7
Skin LOXIMVI 7
Skin MALME3M 6.6
Skin MDAMB435S 6.4
Skin MELHO 7.5
Skin MELJUSO 6.7
Skin MEWO 7.4
Skin RPMI7951 6.9
Skin RVH421 6.6
Skin SH4 5.8
Skin SKMEL1 6.6
Skin SKMEL24 6.6
Skin SKMEL28 7
Skin SKMEL2 7
Skin SKMEL30 6.8
Skin SKMEL31 6.8
Skin SKMEL3 6.6
Skin SKMEL5 6.5
Skin UACC257 6.3
Skin UACC62 6.5
Skin WM115 6.9
Skin WM1799 6.8
Skin WM2664 7.4
Skin WM793 7
Skin WM88 6.8
Skin WM983B 6.8
Small intestine HUTU80 7.6
Soft tissue A204 7.3
Soft tissue G401 7
Soft tissue G402 6.8
Soft tissue GCT 7.2
Soft tissue HS729 7.2
Soft tissue HT1080 6.6
Soft tissue KYM1 7.5
Soft tissue MESSA 4.2
Soft tissue RD 7.7
Soft tissue RH30 6.9
Soft tissue RH41 7.2
Soft tissue RKN 6.4
Soft tissue S117 7.4
Soft tissue SJRH30 6.8
Soft tissue SKLMS1 7
Soft tissue SKUT1 6.9
Soft tissue TE125T 6.4
Soft tissue TE159T 6.6
Soft tissue TE441T 7.5
Soft tissue TE617T 7.3
Stomach 2313287 7.5
Stomach AGS 7.2
Stomach AZ521 7.8
Stomach ECC10 8
Stomach ECC12 7.8
Stomach FU97 6.4
Stomach GCIY 6.5
Stomach GSS 8
Stomach GSU 7.1
Stomach HGC27 6.5
Stomach HS746T 7
Stomach HUG1N 7.1
Stomach IM95 6.7
Stomach KATOIII 6.7
Stomach KE39 6.7
Stomach LMSU 6.7
Stomach MKN1 6.9
Stomach MKN45 6.7
Stomach MKN74 7.2
Stomach MKN7 6.8
Stomach NCCSTCK140 7.4
Stomach NCIN87 7
Stomach NUGC2 7
Stomach NUGC3 6.7
Stomach NUGC4 6.8
Stomach OCUM1 6.6
Stomach RERFGC1B 7.4
Stomach SH10TC 6.5
Stomach SNU16 7.1
Stomach SNU1 6.1
Stomach SNU216 6.8
Stomach SNU520 7.7
Stomach SNU5 5.5
Stomach SNU601 7.2
Stomach SNU620 7.1
Stomach SNU668 7.1
Stomach SNU719 7
Stomach TGBC11TKB 7.7
Thyroid 8305C 6.6
Thyroid 8505C 6.8
Thyroid BCPAP 6.9
Thyroid BHT101 6.9
Thyroid CAL62 6.7
Thyroid CGTHW1 6.7
Thyroid FTC133 7
Thyroid FTC238 7.5
Thyroid ML1 6.6
Thyroid SW579 6.5
Thyroid TT2609C02 6.9
Thyroid TT 7.9
Upper aerodigestive tract BHY 5.6
Upper aerodigestive tract BICR16 6
Upper aerodigestive tract BICR18 6.5
Upper aerodigestive tract BICR22 7
Upper aerodigestive tract BICR31 6.9
Upper aerodigestive tract BICR56 7.1
Upper aerodigestive tract BICR6 6.6
Upper aerodigestive tract CAL27 6.7
Upper aerodigestive tract CAL33 7
Upper aerodigestive tract DETROIT562 6.6
Upper aerodigestive tract FADU 6.8
Upper aerodigestive tract HS840T 6.3
Upper aerodigestive tract HSC2 6.4
Upper aerodigestive tract HSC3 5.9
Upper aerodigestive tract HSC4 7.1
Upper aerodigestive tract PECAPJ15 6.6
Upper aerodigestive tract PECAPJ34CLONEC12 6.7
Upper aerodigestive tract PECAPJ41CLONED2 6.7
Upper aerodigestive tract PECAPJ49 6.6
Upper aerodigestive tract SCC15 6.5
Upper aerodigestive tract SCC25 6.9
Upper aerodigestive tract SCC4 6.6
Upper aerodigestive tract SCC9 6.8
Upper aerodigestive tract SNU1076 6.4
Upper aerodigestive tract SNU1214 6.9
Upper aerodigestive tract SNU46 6.8
Upper aerodigestive tract SNU899 6.3
Upper aerodigestive tract YD10B 6.9
Upper aerodigestive tract YD38 6.8
Upper aerodigestive tract YD8 7.1
Urinary tract 5637 6.7
Urinary tract 639V 7
Urinary tract 647V 7
Urinary tract BC3C 6.6
Urinary tract BFTC905 6.6
Urinary tract CAL29 7.1
Urinary tract HS172T 6.4
Urinary tract HT1197 6.7
Urinary tract HT1376 6.8
Urinary tract J82 6.7
Urinary tract JMSU1 7.7
Urinary tract KMBC2 6.7
Urinary tract KU1919 6.7
Urinary tract RT11284 7.1
Urinary tract RT112 6.4
Urinary tract RT4 7.1
Urinary tract SCABER 6.5
Urinary tract SW1710 6.9
Urinary tract SW780 6.9
Urinary tract T24 6.5
Urinary tract TCCSUP 6.9
Urinary tract UMUC1 7
Urinary tract UMUC3 7.3
Urinary tract VMCUB1 6.3
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 17.7
Adrenal gland 14.4
Appendix 17.7
Bone marrow 11
Breast 18.3
Cerebral cortex 21.5
Cervix, uterine 30.1
Colon 13
Duodenum 13.9
Endometrium 29.5
Epididymis 15.5
Esophagus 21
Fallopian tube 32.9
Gallbladder 25.6
Heart muscle 10.9
Kidney 12.8
Liver 4.8
Lung 22.1
Lymph node 22.5
Ovary 36.5
Pancreas 4.1
Parathyroid gland 75.6
Placenta 18.3
Prostate 23.7
Rectum 14.7
Salivary gland 10.1
Seminal vesicle 21
Skeletal muscle 9.9
Skin 34
Small intestine 16.8
Smooth muscle 27.7
Spleen 25
Stomach 12.5
Testis 17
Thyroid gland 40.8
Tonsil 18.8
Urinary bladder 22.7
> Text Mining based Expression
 
PMID Expression Cancer Evidence
27195705altered expressionBreast CarcinomaHowever, only MYC, DNAH5, CSFR1, EPHA7, ARID1B, and KMT2C preserved an independent prognosis impact and/or showed a significantly different incidence of alterations between relapsed and non-relapsed cases in the TCGA series
26345631loss of expressionNon-Small Cell Lung CarcinomaThe loss of the expression of ARID1A, ARID1B, and BAF47 was observed only in a fraction of NSCLC cases.
25817822overexpressionBreast CarcinomaUnivariate analysis revealed that high ARID1B expression is correlated closely with histological grade (P = 0.045) and size (P = 0.043) of invasive breast cancer.
24366360loss of expression (copy number loss)Waldenstrom MacroglobulinemiaValidated gene losses due to CNAs involved PRDM2 (93%), BTG1 (87%), HIVEP2 (77%), MKLN1 (77%), PLEKHG1 (70%), LYN (60%), ARID1B (50%), and FOXP1 (37%). Losses in PLEKHG1, HIVEP2, ARID1B, and BCLAF1 constituted the most common deletions within chromosome 6.
23660946underexpressionPancreatic CarcinomaIn addition, ARID1B exhibited significantly reduced/loss of expression in PaCa tissue, especially in samples from advanced-stage tumours, when compared with normal pancreas.
26637902underexpressionGastric CarcinomaLow expression rates of ARID1A, 1B, and 2 in gastric carcinoma were 20%, 10%, and 15% respectively. Loss of ARID1B and ARID2 was also related to tumor progression, but their relationship was weaker than that of ARID1A.
27562491loss of expressionEndometrioid Carcinoma; Ovarian Dedifferentiated CarcinomaARID1B expression was absent in the undifferentiated component in all 12 tumours, whereas the corresponding endometrioid component showed intact expression.
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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 carcinoma4040.4143.34e-1846.845.57.7Loss
BRCABreast invasive carcinoma10750.4821.6e-6333.853.312.9Loss
CESCCervical and endocervical cancers2920.5245.61e-2233.259.67.2Neutral
COADColon adenocarcinoma4490.323.82e-1212.271.716Neutral
ESCAEsophageal carcinoma1830.4321.03e-0928.451.919.7Neutral
GBMGlioblastoma multiforme1470.4412.2e-083462.63.4Loss
HNSCHead and Neck squamous cell carcinoma5140.3493.47e-1617.571.411.1Neutral
KIRCKidney renal clear cell carcinoma5250.4748.04e-3128.470.11.5Neutral
KIRPKidney renal papillary cell carcinoma2880.2050.00045111.187.21.7Neutral
LAMLAcute Myeloid Leukemia166-0.0210.79101000Neutral
LGGBrain Lower Grade Glioma5130.456.04e-2716.282.81Neutral
LIHCLiver hepatocellular carcinoma3640.4391.4e-1838.250.311.5Loss
LUADLung adenocarcinoma5120.3832.33e-1950.641.28.2Loss
LUSCLung squamous cell carcinoma4980.4011.09e-2025.954.619.5Neutral
OVOvarian serous cystadenocarcinoma3000.6856.39e-4363.32214.7Loss
PAADPancreatic adenocarcinoma1770.3917.21e-0848.649.22.3Loss
PCPGPheochromocytoma and Paraganglioma1620.5057.45e-1212.383.34.3Neutral
PRADProstate adenocarcinoma4910.1230.006411187.81.2Neutral
READRectum adenocarcinoma1640.5625.1e-1517.162.220.7Neutral
SARCSarcoma2550.2951.63e-0618.856.524.7Neutral
SKCMSkin Cutaneous Melanoma3670.4773.22e-2261.6335.4Loss
STADStomach adenocarcinoma4130.4641.84e-2321.36315.7Neutral
TGCTTesticular Germ Cell Tumors1500.3548.76e-0616.768.714.7Neutral
THCAThyroid carcinoma4970.0630.1611.298.40.4Neutral
THYMThymoma1190.2210.015918.581.50Neutral
UCECUterine Corpus Endometrial Carcinoma5370.2832.32e-118.279.312.5Neutral
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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-0.2569.17e-08174080.0050.183NS/NA
BRCABreast invasive carcinoma-0.340837850.0035.55e-19NS/NA
CESCCervical and endocervical cancers-0.3975.72e-133306NANANS/NA
COADColon adenocarcinoma-0.2583.59e-06192970.0060.000838NS/NA
ESCAEsophageal carcinoma-0.3525.79e-079185NANANS/NA
GBMGlioblastoma multiforme-0.3380.00613164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.3496.31e-17205220.0020.00286NS/NA
KIRCKidney renal clear cell carcinoma-0.3086.67e-09243190.0095.23e-10NS/NA
KIRPKidney renal papillary cell carcinoma-0.4192.74e-14232750.0112.21e-09NS/NA
LAMLAcute Myeloid Leukemia-0.0440.5710170NANANS/NA
LGGBrain Lower Grade Glioma-0.2524.88e-090530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.4140413730.0152.95e-15NS/NA
LUADLung adenocarcinoma-0.1864.62e-05214560.0150.656NS/NA
LUSCLung squamous cell carcinoma-0.2094.5e-058370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.550.13309NANANS/NA
PAADPancreatic adenocarcinoma-0.3683.73e-074179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.3199.65e-063184NANANS/NA
PRADProstate adenocarcinoma-0.3169.87e-14354980.0030.000411NS/NA
READRectum adenocarcinoma-0.1990.0465299NANANS/NA
SARCSarcoma-0.2240.0002530263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.3524.34e-151471NANANS/NA
STADStomach adenocarcinoma-0.3222.61e-100372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.1920.01620156NANANS/NA
THCAThyroid carcinoma-0.0510.23350509-0.0010.905NS/NA
THYMThymoma-0.1530.09162120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.1310.0047344310.0132.17e-16NS/NA
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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)
 


Tissue Level Level Name
Adrenal gland 2 Medium
Appendix 1 Low
Bone marrow 3 High
Breast 2 Medium
Bronchus 2 Medium
Caudate 2 Medium
Cerebellum 3 High
Cerebral cortex 3 High
Cervix, uterine 2 Medium
Colon 2 Medium
Duodenum 2 Medium
Endometrium 2 Medium
Epididymis 3 High
Esophagus 3 High
Fallopian tube 2 Medium
Gallbladder 3 High
Heart muscle 2 Medium
Hippocampus 2 Medium
Kidney 2 Medium
Liver 1 Low
Lung 2 Medium
Lymph node 1 Low
Oral mucosa 3 High
Ovary 1 Low
Pancreas 2 Medium
Parathyroid gland 3 High
Placenta 2 Medium
Prostate 1 Low
Rectum 2 Medium
Salivary gland 2 Medium
Seminal vesicle 3 High
Skeletal muscle 2 Medium
Skin 2 Medium
Small intestine 2 Medium
Smooth muscle 1 Low
Soft tissue 2 Medium
Spleen 3 High
Stomach 2 Medium
Testis 2 Medium
Thyroid gland 3 High
Tonsil 3 High
Urinary bladder 3 High
Vagina 3 High
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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 carcinoma1280.692NS24476821
BRCABreast invasive carcinoma5210.0746NS23000897
COADColon adenocarcinoma1490.018Significant22810696
GBMGlioblastoma multiforme1570.000235Significant26824661
HNSCHead and Neck squamous cell carcinoma2790.000149Significant25631445
KIRPKidney renal papillary cell carcinoma1610.884NS26536169
LGGBrain Lower Grade Glioma5134.79e-11Significant26824661
LUADLung adenocarcinoma2300.0426Significant25079552
LUSCLung squamous cell carcinoma1780.0167Significant22960745
OVOvarian serous cystadenocarcinoma2870.0927NS21720365
PRADProstate adenocarcinoma3331.74e-07Significant26544944
READRectum adenocarcinoma670.23NS22810696
SKCMSkin Cutaneous Melanoma3150.00217Significant26091043
STADStomach adenocarcinoma2770.0426Significant25079317
THCAThyroid carcinoma3910.012Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.706NS23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.90.619NS
BRCABreast invasive carcinoma1079 1.8170.00987Shorter
CESCCervical and endocervical cancers291 1.5480.182NS
COADColon adenocarcinoma439 1.1340.67NS
ESCAEsophageal carcinoma184 0.5840.102NS
GBMGlioblastoma multiforme158 0.8390.504NS
HNSCHead and Neck squamous cell carcinoma518 0.6460.0197Longer
KIRCKidney renal clear cell carcinoma531 0.5180.00507Longer
KIRPKidney renal papillary cell carcinoma287 1.1850.726NS
LAMLAcute Myeloid Leukemia149 0.7220.27NS
LGGBrain Lower Grade Glioma511 0.5520.0116Longer
LIHCLiver hepatocellular carcinoma365 1.2950.33NS
LUADLung adenocarcinoma502 1.0260.902NS
LUSCLung squamous cell carcinoma494 1.0480.815NS
OVOvarian serous cystadenocarcinoma303 1.6480.0204Shorter
PAADPancreatic adenocarcinoma177 0.9110.766NS
PCPGPheochromocytoma and Paraganglioma179 1.0430.976NS
PRADProstate adenocarcinoma497 00.104NS
READRectum adenocarcinoma159 0.7540.605NS
SARCSarcoma259 1.4320.208NS
SKCMSkin Cutaneous Melanoma459 1.2910.195NS
STADStomach adenocarcinoma388 0.7920.302NS
TGCTTesticular Germ Cell Tumors134 1.0950.949NS
THCAThyroid carcinoma500 1.4780.667NS
THYMThymoma119 0.8120.802NS
UCECUterine Corpus Endometrial Carcinoma543 1.230.478NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.1770.000339Lower
BRCABreast invasive carcinoma1071 -0.0240.425NS
CESCCervical and endocervical cancers167 0.0330.672NS
COADColon adenocarcinoma445 -0.0020.962NS
ESCAEsophageal carcinoma162 -0.0570.47NS
HNSCHead and Neck squamous cell carcinoma448 -0.0430.358NS
KIRCKidney renal clear cell carcinoma531 -0.2081.4e-06Lower
KIRPKidney renal papillary cell carcinoma260 -0.0370.548NS
LIHCLiver hepatocellular carcinoma347 0.0340.529NS
LUADLung adenocarcinoma507 0.0450.307NS
LUSCLung squamous cell carcinoma497 0.030.506NS
OVOvarian serous cystadenocarcinoma302 -0.0260.658NS
PAADPancreatic adenocarcinoma176 0.0680.368NS
READRectum adenocarcinoma156 0.0210.798NS
SKCMSkin Cutaneous Melanoma410 -0.1260.0106Lower
STADStomach adenocarcinoma392 -0.0410.423NS
TGCTTesticular Germ Cell Tumors81 -0.0940.405NS
THCAThyroid carcinoma499 -0.0450.317NS
UCECUterine Corpus Endometrial Carcinoma501 -0.0510.253NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 -0.0940.121NS
HNSCHead and Neck squamous cell carcinoma498 0.020.658NS
KIRCKidney renal clear cell carcinoma525 -0.1984.88e-06Lower
LGGBrain Lower Grade Glioma514 -0.0180.692NS
LIHCLiver hepatocellular carcinoma366 -0.0630.232NS
OVOvarian serous cystadenocarcinoma296 -0.030.613NS
PAADPancreatic adenocarcinoma176 -0.0050.947NS
STADStomach adenocarcinoma406 -0.0760.127NS
UCECUterine Corpus Endometrial Carcinoma534 0.0440.315NS
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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 ARID1B.
Summary
SymbolARID1B
NameAT-rich interaction domain 1B
Aliases KIAA1235; ELD/OSA1; p250R; BAF250b; DAN15; 6A3-5; MRD12; OSA2; ARID domain-containing protein 1B; BRG1-assoc ......
Location6q25.3
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
26892443Spitzoid MelanomapartnerSNX9FusionIn addition, two tumors each contained a second fusion gene, ARID1B-SNX9 or PTPRZ1-NFAM1.
27392123LeukemiapartnerZNF384FusionSeven of the 240 patients were identified to have ZNF384 gene rearrangements including partner genes TCF3 (four patients), EWSR1 (one patient), EP300 (one patient), and the novel gene partner ARID1B (one patient).
27723760Schwannomadownstreamp16(INK4a); p21(CIP1a); p53regulationARID1B controls p16(INK4a) and p21(CIP1a) transcription but also regulates DNA damage, oxidative stress, and p53 induction, suggesting that SWI/SNF uses additional mechanisms to regulate senescence.