Browse PBRM1 in pancancer

Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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 PF01426 BAH domain
PF00439 Bromodomain
PF00505 HMG (high mobility group) box
Function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Acts as a negative regulator of cell proliferation.

Classification
Class Modification Substrate Product PubMed
Histone modification read # H3 # 22464331
> Gene Ontology
 
Biological Process GO:0006338 chromatin remodeling
GO:0007067 mitotic nuclear division
Molecular Function GO:0003682 chromatin binding
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
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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
COSM52786c.856G>Tp.E286*Substitution - NonsenseKidney
COSM1169580c.3859G>Ap.E1287KSubstitution - MissenseBreast
COSM423071c.1547delAp.K516fs*3Deletion - FrameshiftKidney
COSM3365387c.2392A>Tp.R798*Substitution - NonsenseKidney
COSM5609772c.2443C>Tp.P815SSubstitution - MissenseSkin
COSM5031165c.?p.D451YSubstitution - MissenseThymus
COSM308454c.3398delAp.D1133fs*26Deletion - FrameshiftKidney
COSM5762909c.4585C>Tp.R1529CSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5753361c.?p.?fs*?FrameshiftKidney
COSM5609769c.3773_3774ins15p.S1264_D1265insRYNESInsertion - In frameSkin
COSM1670260c.4354C>Tp.Q1452*Substitution - NonsenseLung
COSM5609763c.4340G>Ap.G1447ESubstitution - MissenseSkin
COSM308460c.724T>Cp.Y242HSubstitution - MissenseKidney
COSM4119174c.344A>Tp.D115VSubstitution - MissenseStomach
COSM52835c.1955C>Gp.S652*Substitution - NonsenseKidney
COSM1732162c.1983delAp.K661fs*2Deletion - FrameshiftKidney
COSM4411268c.3920delAp.K1307fs*6Deletion - FrameshiftKidney
COSM1717436c.?p.V964DSubstitution - MissenseBiliary_tract
COSM398580c.2344A>Cp.I782LSubstitution - MissenseLung
COSM1169634c.?p.?UnknownKidney
COSM52842c.1318C>Tp.Q440*Substitution - NonsenseKidney
COSM1600086c.4576+2T>Ap.?UnknownCentral_nervous_system
COSM1169605c.2899G>Tp.E967*Substitution - NonsenseKidney
COSM1047091c.2461A>Gp.T821ASubstitution - MissenseEndometrium
COSM3365369c.3409G>Tp.E1137*Substitution - NonsenseKidney
COSM4186377c.3040delGp.E1014fs*19Deletion - FrameshiftKidney
COSM1732013c.1760T>Cp.I587TSubstitution - MissenseKidney
COSM5753359c.?p.E1501fs*?FrameshiftKidney
COSM4119147c.3161A>Tp.E1054VSubstitution - MissenseStomach
COSM5019205c.996-4delGp.?UnknownSoft_tissue
COSM52827c.4694_4695insTp.L1565fs*>19Insertion - FrameshiftKidney
COSM5020034c.1925-5T>Cp.?UnknownSoft_tissue
COSM3358493c.3762_3763insTp.L1255fs*4Insertion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM1727937c.268C>Tp.Q90*Substitution - NonsenseLiver
COSM423107c.2799delTp.S934fs*80Deletion - FrameshiftKidney
COSM422820c.3640G>Tp.E1214*Substitution - NonsenseKidney
COSM1660061c.1279delCp.I428fs*10Deletion - FrameshiftKidney
COSM52929c.1924_1925ins383p.S642fs*5Insertion - FrameshiftBreast
COSM423095c.2296_2318del23p.D766fs*22Deletion - FrameshiftKidney
COSM423118c.3419delAp.N1140fs*19Deletion - FrameshiftKidney
COSM1744930c.3132delTp.F1044fs*115Deletion - FrameshiftBiliary_tract
COSM1745147c.674delAp.K225fs*4Deletion - FrameshiftUrinary_tract
COSM52787c.1162C>Tp.Q388*Substitution - NonsenseKidney
COSM1309358c.3926T>Cp.I1309TSubstitution - MissenseUrinary_tract
COSM480350c.2576C>Ap.S859*Substitution - NonsenseKidney
COSM3365398c.1541+1G>Tp.?UnknownKidney
COSM4119150c.3151T>Gp.F1051VSubstitution - MissenseStomach
COSM1753305c.4530C>Tp.L1510LSubstitution - coding silentUrinary_tract
COSM1169633c.?p.?UnknownKidney
COSM5501071c.1247_1248insAp.Y417fs*3Insertion - FrameshiftBiliary_tract
COSM5642805c.2240A>Gp.K747RSubstitution - MissenseOesophagus
COSM5931363c.197G>Ap.R66KSubstitution - MissenseSkin
COSM5048721c.1619G>Cp.R540TSubstitution - MissenseOesophagus
COSM5059868c.1087G>Tp.A363SSubstitution - MissenseStomach
COSM480367c.2128C>Tp.R710*Substitution - NonsenseSkin
COSM1169575c.(1915_1917)delCp.(L639)fs*?Deletion - FrameshiftKidney
COSM52782c.3220A>Tp.K1074*Substitution - NonsenseKidney
COSM52899c.3805A>Tp.K1269*Substitution - NonsenseKidney
COSM584218c.2216A>Gp.N739SSubstitution - MissenseSkin
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM422793c.2761C>Tp.R921*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM480376c.1998T>Ap.Y666*Substitution - NonsenseKidney
COSM1727770c.2228C>Tp.S743FSubstitution - MissenseLiver
COSM423266c.773_774insAp.N258fs*6Insertion - FrameshiftKidney
COSM52830c.348_352>Tp.Q117fs*56Complex - frameshiftKidney
COSM1047082c.3263G>Ap.R1088QSubstitution - MissenseEndometrium
COSM4446774c.4066A>Gp.M1356VSubstitution - MissenseSkin
COSM422745c.172C>Tp.R58*Substitution - NonsenseLarge_intestine
COSM1047088c.2613T>Gp.F871LSubstitution - MissenseEndometrium
COSM5520026c.714G>Ap.Q238QSubstitution - coding silentBiliary_tract
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM4119138c.4128C>Ap.G1376GSubstitution - coding silentStomach
COSM3596192c.1583A>Gp.N528SSubstitution - MissenseSkin
COSM52852c.307delAp.M103fs*10Deletion - FrameshiftKidney
COSM3974507c.3120C>Gp.V1040VSubstitution - coding silentCentral_nervous_system
COSM4604716c.2106G>Ap.K702KSubstitution - coding silentUpper_aerodigestive_tract
COSM2854069c.3235C>Tp.P1079SSubstitution - MissenseLarge_intestine
COSM1169604c.1637_1638delTTp.F546fs*3Deletion - FrameshiftKidney
COSM4822762c.1128C>Gp.I376MSubstitution - MissenseCervix
COSM4771404c.974_975insAp.N325fs*4Insertion - FrameshiftKidney
COSM423303c.2217_2218insCp.E740fs*19Insertion - FrameshiftKidney
COSM5816745c.2882G>Tp.G961VSubstitution - MissenseLiver
COSM52027c.1850_1851insTp.L617fs*Insertion - FrameshiftKidney
COSM1169574c.442A>Tp.R148*Substitution - NonsenseKidney
COSM4771422c.1953_1954AT>Gp.S652fs*4Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1663338c.1994T>Cp.V665ASubstitution - MissenseKidney
COSM1309370c.459G>Ap.Q153QSubstitution - coding silentUrinary_tract
COSM1169580c.3859G>Ap.E1287KSubstitution - MissenseKidney
COSM423132c.3687delTp.L1230fs*39Deletion - FrameshiftKidney
COSM3974513c.1666C>Tp.P556SSubstitution - MissenseCentral_nervous_system
COSM1665678c.842delAp.Y281fs*2Deletion - FrameshiftKidney
COSM52872c.320_321delATp.D107fs*3Deletion - FrameshiftKidney
COSM5017266c.2216_2217insAp.N739fs*2Insertion - FrameshiftKidney
COSM480320c.3605C>Ap.T1202KSubstitution - MissenseKidney
COSM1169590c.3767_3771delTTTGTp.L1256fs*6Deletion - FrameshiftKidney
COSM3408799c.4231C>Tp.R1411CSubstitution - MissenseCentral_nervous_system
COSM3775249c.546G>Cp.L182FSubstitution - MissenseUrinary_tract
COSM446845c.1182G>Cp.R394SSubstitution - MissenseBreast
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM5736639c.320A>Gp.D107GSubstitution - MissenseSmall_intestine
COSM423047c.489delTp.D163fs*11Deletion - FrameshiftKidney
COSM1169601c.4019_4022delCTTCp.P1340fs*43Deletion - FrameshiftKidney
COSM52881c.2764G>Tp.E922*Substitution - NonsenseKidney
COSM480420c.1264C>Tp.Q422*Substitution - NonsenseKidney
COSM480306c.4284T>Gp.Y1428*Substitution - NonsenseKidney
COSM1159261c.2047delAp.I683fs*3Deletion - FrameshiftPancreas
COSM52784c.1818+1G>Ap.?UnknownKidney
COSM5742962c.302T>Ap.L101QSubstitution - MissenseSmall_intestine
COSM1665672c.1994delTp.V665fs*5Deletion - FrameshiftKidney
COSM52824c.3816delAp.G1273fs*2Deletion - FrameshiftKidney
COSM3824346c.2217T>Cp.N739NSubstitution - coding silentBreast
COSM4333276c.3083T>Ap.V1028DSubstitution - MissenseBiliary_tract
COSM1732020c.3249_3253delCAGGTp.R1084fs*21Deletion - FrameshiftKidney
COSM3358484c.4207_4208delGAp.D1403fs*18Deletion - FrameshiftKidney
COSM52790c.4288+1G>Tp.?UnknownKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM1169580c.3859G>Ap.E1287KSubstitution - MissenseBiliary_tract
COSM1261006c.3692-1G>Tp.?UnknownStomach
COSM4119159c.2569A>Gp.T857ASubstitution - MissenseStomach
COSM52901c.748A>Tp.K250*Substitution - NonsenseKidney
COSM52795c.3007_3013delGAAACATp.E1003fs*9Deletion - FrameshiftKidney
COSM3365401c.1444-2A>Tp.?UnknownKidney
COSM4648728c.2955G>Ap.E985ESubstitution - coding silentLarge_intestine
COSM1732151c.3245delCp.S1082fs*1Deletion - FrameshiftKidney
COSM480432c.755T>Gp.I252RSubstitution - MissenseKidney
COSM422762c.651T>Gp.Y217*Substitution - NonsenseKidney
COSM480403c.1505C>Gp.S502*Substitution - NonsenseKidney
COSM52853c.310delGp.E104fs*9Deletion - FrameshiftKidney
COSM4771392c.97A>Gp.R33GSubstitution - MissenseKidney
COSM5753366c.?p.K1373fs*?FrameshiftKidney
COSM52905c.3199delAp.T1067fs*92Deletion - FrameshiftKidney
COSM3596189c.2149A>Tp.K717*Substitution - NonsenseSkin
COSM5490597c.2567G>Tp.R856LSubstitution - MissenseBiliary_tract
COSM4949725c.3327_3348del22p.D1109fs*43Deletion - FrameshiftLiver
COSM1485380c.4296G>Ap.M1432ISubstitution - MissenseBreast
COSM52806c.646-5T>Gp.?UnknownKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM1169662c.(3745_3747)delAp.(P1249)fs*?Deletion - FrameshiftKidney
COSM4002750c.996-4G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM308445c.3759_3760insAp.I1254fs*5Insertion - FrameshiftKidney
COSM4188840c.3107_3108delTGp.V1036fs*9Deletion - FrameshiftKidney
COSM1665669c.2513_2517delATTTAp.D838fs*7Deletion - FrameshiftKidney
COSM1732087c.2887delTp.Y963fs*51Deletion - FrameshiftKidney
COSM1663350c.439A>Cp.T147PSubstitution - MissenseKidney
COSM422759c.625C>Tp.Q209*Substitution - NonsenseKidney
COSM1732135c.3292G>Tp.A1098SSubstitution - MissenseKidney
COSM52890c.1638_1639insTp.M547fs*3Insertion - FrameshiftKidney
COSM480309c.4249T>Gp.W1417GSubstitution - MissenseKidney
COSM4541853c.3155G>Ap.R1052QSubstitution - MissenseSkin
COSM422793c.2761C>Tp.R921*Substitution - NonsenseKidney
COSM5575972c.4579C>Tp.R1527*Substitution - NonsenseStomach
COSM52781c.3892C>Tp.Q1298*Substitution - NonsenseKidney
COSM422826c.3848T>Ap.V1283ESubstitution - MissenseKidney
COSM52883c.2887T>Cp.Y963HSubstitution - MissenseKidney
COSM1047094c.1279C>Tp.P427SSubstitution - MissenseEndometrium
COSM4187934c.3123+2delTp.?UnknownKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM1665687c.412delTp.C138fs*36Deletion - FrameshiftKidney
COSM422759c.625C>Tp.Q209*Substitution - NonsenseKidney
COSM1169651c.4370_4371insTTp.L1457fs*33Insertion - FrameshiftKidney
COSM52896c.3703delGp.V1235fs*34Deletion - FrameshiftKidney
COSM1309367c.2299G>Cp.E767QSubstitution - MissenseUrinary_tract
COSM1424552c.829A>Tp.K277*Substitution - NonsenseLarge_intestine
COSM52889c.1253delCp.P418fs*20Deletion - FrameshiftKidney
COSM1732214c.4376C>Tp.P1459LSubstitution - MissenseKidney
COSM308457c.446delAp.N149fs*25Deletion - FrameshiftKidney
COSM5044478c.1302-3C>Gp.?UnknownKidney
COSM4771413c.3095_3096TA>AAAp.L1032fs*14Complex - frameshiftKidney
COSM480423c.1112C>Gp.S371*Substitution - NonsenseKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM5019205c.996-4delGp.?UnknownSoft_tissue
COSM4603746c.1658delAp.K553fs*16Deletion - FrameshiftKidney
COSM52793c.1373delAp.N458fs*17Deletion - FrameshiftKidney
COSM52826c.3461_3464delATGAp.N1154fs*4Deletion - FrameshiftKidney
COSM4771407c.3675_3675delCp.M1226fs*1Deletion - FrameshiftKidney
COSM5928507c.4042C>Tp.P1348SSubstitution - MissenseSkin
COSM1692825c.4310C>Tp.A1437VSubstitution - MissenseSkin
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftKidney
COSM1169632c.138+2delTp.?UnknownKidney
COSM1169592c.4032_4032delGp.Q1344fs*40Deletion - FrameshiftKidney
COSM4771394c.275_280TTGACT>TGAp.I92_L94>MMComplex - deletion inframeKidney
COSM422817c.3601G>Tp.E1201*Substitution - NonsenseKidney
COSM423124c.3523delCp.R1175fs*43Deletion - FrameshiftKidney
COSM3358550c.1442delAp.Q481fs*19Deletion - FrameshiftKidney
COSM4411013c.2354T>Gp.L785RSubstitution - MissenseKidney
COSM5019205c.996-4delGp.?UnknownSkin
COSM731077c.2966-1G>Ap.?UnknownLung
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1291743c.2540T>Cp.V847ASubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM52903c.2368_2369delATp.M790fs*5Deletion - FrameshiftKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM4771411c.2785G>Tp.E929*Substitution - NonsenseKidney
COSM52865c.1186delTp.C396fs*8Deletion - FrameshiftKidney
COSM1663335c.2627G>Ap.R876HSubstitution - MissenseKidney
COSM1424552c.829A>Tp.K277*Substitution - NonsenseThymus
COSM422772c.1443+1G>Tp.?UnknownKidney
COSM3358541c.1743_1747delTGGTGp.G582fs*18Deletion - FrameshiftKidney
COSM3427747c.1381C>Tp.R461CSubstitution - MissenseLarge_intestine
COSM422751c.236G>Tp.R79ISubstitution - MissenseKidney
COSM480353c.2548C>Tp.R850*Substitution - NonsenseKidney
COSM4185512c.4275delAp.A1426fs*6Deletion - FrameshiftKidney
COSM1732074c.2517_2519delATTp.L839delLDeletion - In frameKidney
COSM52816c.1112_1131del20p.S371fs*14Deletion - FrameshiftKidney
COSM52900c.3854A>Gp.D1285GSubstitution - MissenseKidney
COSM4452177c.1635A>Tp.L545LSubstitution - coding silentSkin
COSM5006581c.?ins?p.?fs*?Insertion - FrameshiftKidney
COSM5748999c.2005G>Cp.V669LSubstitution - MissensePancreas
COSM1137073c.1677T>Ap.Y559*Substitution - NonsenseKidney
COSM307750c.3123+1G>Ap.?UnknownKidney
COSM422793c.2761C>Tp.R921*Substitution - NonsenseKidney
COSM674208c.1007_1011CAGTA>Tp.A336fs*25Complex - frameshiftKidney
COSM1732165c.3049G>Tp.V1017FSubstitution - MissenseKidney
COSM4771424c.2642_2643insTAp.K881fs*35Insertion - FrameshiftKidney
COSM3993226c.4404T>Ap.Y1468*Substitution - NonsenseKidney
COSM5019205c.996-4delGp.?UnknownSoft_tissue
COSM731065c.2467G>Cp.D823HSubstitution - MissenseLung
COSM422787c.2568-1G>Ap.?UnknownKidney
COSM52886c.442_443insAp.R148fs*3Insertion - FrameshiftKidney
COSM5016011c.1717_1718insTp.H573fs*2Insertion - FrameshiftKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM4119168c.361A>Tp.N121YSubstitution - MissenseStomach
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM422834c.4289-1G>Cp.?UnknownKidney
COSM3358529c.2242delGp.D748fs*27Deletion - FrameshiftKidney
COSM3365384c.2567+1G>Ap.?UnknownKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1137070c.1918A>Tp.K640*Substitution - NonsenseKidney
COSM422745c.172C>Tp.R58*Substitution - NonsenseKidney
COSM731050c.552G>Cp.E184DSubstitution - MissenseLung
COSM52780c.3611A>Cp.H1204PSubstitution - MissenseKidney
COSM1717437c.?p.A938fs*10UnknownBiliary_tract
COSM52822c.165delTp.N55fs*40Deletion - FrameshiftKidney
COSM52868c.2126_2127insAp.R710fs*13Insertion - FrameshiftKidney
COSM5750466c.2380G>Tp.D794YSubstitution - MissenseStomach
COSM1665675c.1281delCp.I428fs*10Deletion - FrameshiftKidney
COSM5753354c.?p.P703LSubstitution - MissenseKidney
COSM731053c.676G>Cp.E226QSubstitution - MissenseLung
COSM480394c.1757T>Cp.M586TSubstitution - MissenseKidney
COSM1169593c.646C>Tp.Q216*Substitution - NonsenseKidney
COSM52801c.1764delAp.D589fs*2Deletion - FrameshiftKidney
COSM1663335c.2627G>Ap.R876HSubstitution - MissensePancreas
COSM5457063c.232C>Tp.R78*Substitution - NonsenseLarge_intestine
COSM5708836c.2402G>Ap.S801NSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1047085c.3100A>Tp.K1034*Substitution - NonsenseEndometrium
COSM1663335c.2627G>Ap.R876HSubstitution - MissenseBiliary_tract
COSM5943951c.996-5delTp.?UnknownSkin
COSM308479c.1432C>Tp.Q478*Substitution - NonsenseKidney
COSM3358564c.580_581delGTp.V194fs*11Deletion - FrameshiftKidney
COSM4185412c.1364_1371delTGTTTGAAp.M455fs*6Deletion - FrameshiftKidney
COSM52906c.3033delAp.K1011fs*3Deletion - FrameshiftKidney
COSM3380653c.2126T>Ap.I709NSubstitution - MissensePancreas
COSM5019959c.1281C>Tp.P427PSubstitution - coding silentSoft_tissue
COSM480412c.1369G>Tp.E457*Substitution - NonsenseKidney
COSM4411374c.619delCp.L207fs*17Deletion - FrameshiftKidney
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM1732032c.3830T>Ap.F1277YSubstitution - MissenseKidney
COSM4771388c.2040_2042CAG>TCp.S681fs*5Complex - frameshiftKidney
COSM5994796c.171C>Gp.I57MSubstitution - MissenseProstate
COSM4542032c.3186G>Ap.R1062RSubstitution - coding silentSkin
COSM4404189c.2105A>Cp.K702TSubstitution - MissenseSkin
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM423068c.1411delAp.K471fs*4Deletion - FrameshiftKidney
COSM1047100c.787_789delAATp.N263delNDeletion - In frameEndometrium
COSM52800c.851delAp.K284fs*16Deletion - FrameshiftKidney
COSM4771417c.2756_2761delTAAAACp.L919_K920delDeletion - In frameKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM52781c.3892C>Tp.Q1298*Substitution - NonsenseKidney
COSM5648964c.1028C>Gp.S343*Substitution - NonsenseOesophagus
COSM423300c.1999_2000insTAp.E667fs*4Insertion - FrameshiftKidney
COSM4771409c.1819-1G>Ap.?UnknownKidney
COSM52829c.3221_3222delAAp.K1074fs*32Deletion - FrameshiftKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseBiliary_tract
COSM1732144c.1573delAp.I525fs*44Deletion - FrameshiftKidney
COSM480459c.139-2A>Gp.?UnknownKidney
COSM5049096c.1672T>Cp.Y558HSubstitution - MissenseOesophagus
COSM3358481c.4242delGp.T1415fs*17Deletion - FrameshiftKidney
COSM5951575c.3392_3393insAp.E1132fs*11Insertion - FrameshiftOesophagus
COSM2854250c.39C>Tp.S13SSubstitution - coding silentLarge_intestine
COSM3945597c.1069G>Ap.E357KSubstitution - MissenseLung
COSM52818c.2386delGp.E796fs*9Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM52852c.307delAp.M103fs*10Deletion - FrameshiftKidney
COSM1663330c.3554G>Cp.R1185PSubstitution - MissenseKidney
COSM52864c.2873_2879delACCATGTp.Y958fs*54Deletion - FrameshiftKidney
COSM5753356c.?p.K553*Substitution - NonsenseKidney
COSM52879c.1618A>Gp.R540GSubstitution - MissenseKidney
COSM423263c.362_363insAp.N121fs*8Insertion - FrameshiftKidney
COSM4513986c.958C>Tp.L320FSubstitution - MissenseSkin
COSM2854208c.682A>Gp.I228VSubstitution - MissenseSkin
COSM3781665c.3875+1G>Ap.?UnknownPancreas
COSM52787c.1162C>Tp.Q388*Substitution - NonsenseKidney
COSM5049093c.2129G>Cp.R710PSubstitution - MissenseOesophagus
COSM1047076c.3947T>Gp.F1316CSubstitution - MissenseEndometrium
COSM52805c.1983A>Tp.K661NSubstitution - MissenseKidney
COSM52889c.1253delCp.P418fs*20Deletion - FrameshiftKidney
COSM480353c.2548C>Tp.R850*Substitution - NonsenseKidney
COSM3358505c.3058_3059delAGp.S1020fs*1Deletion - FrameshiftKidney
COSM1660000c.3698_3704delGTGCTGTp.A1234fs*33Deletion - FrameshiftKidney
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM422745c.172C>Tp.R58*Substitution - NonsenseLarge_intestine
COSM480456c.286A>Tp.K96*Substitution - NonsenseKidney
COSM4152504c.1819-3T>Gp.?UnknownKidney
COSM3774111c.4511T>Cp.L1504PSubstitution - MissenseKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM52871c.166_167insAp.T56fs*6Insertion - FrameshiftKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM1169589c.4693_4705del13p.L1565fs*11Deletion - FrameshiftKidney
COSM5556977c.555C>Ap.I185ISubstitution - coding silentProstate
COSM1169587c.2822C>Gp.S941*Substitution - NonsenseLiver
COSM1744042c.235A>Tp.R79*Substitution - NonsenseBiliary_tract
COSM4584544c.3837C>Gp.L1279LSubstitution - coding silentBone
COSM52839c.3633C>Ap.Y1211*Substitution - NonsenseKidney
COSM1169587c.2822C>Gp.S941*Substitution - NonsenseKidney
COSM1665961c.3534-2A>Tp.?UnknownKidney
COSM3596201c.255T>Gp.Y85*Substitution - NonsenseSkin
COSM3940596c.1855A>Tp.K619*Substitution - NonsenseOesophagus
COSM52848c.1937_1955del19p.G646fs*4Deletion - FrameshiftKidney
COSM4604674c.2036G>Tp.R679LSubstitution - MissenseUpper_aerodigestive_tract
COSM52861c.644delTp.V215fs*9Deletion - FrameshiftKidney
COSM422778c.1814C>Tp.S605FSubstitution - MissenseKidney
COSM480409c.1441C>Tp.Q481*Substitution - NonsenseKidney
COSM1732110c.1060G>Tp.E354*Substitution - NonsenseKidney
COSM5399767c.436C>Tp.R146*Substitution - NonsenseSkin
COSM5519969c.2168_2169insTp.M724fs*3Insertion - FrameshiftBiliary_tract
COSM1732029c.608_609insCp.I204fs*2Insertion - FrameshiftKidney
COSM328834c.2140A>Tp.M714LSubstitution - MissenseLiver
COSM52908c.2783delCp.A928fs*86Deletion - FrameshiftKidney
COSM52857c.3534-21delTTATATATTTTCCTCCCCAAGp.?UnknownKidney
COSM1169572c.3030_3030delAp.K1011fs*3Deletion - FrameshiftKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM3358535c.1914delAp.K638fs*4Deletion - FrameshiftKidney
COSM1495644c.125C>Tp.P42LSubstitution - MissenseKidney
COSM52887c.1823_1826delATAAp.Y608fs*33Deletion - FrameshiftKidney
COSM4119135c.4135C>Tp.R1379WSubstitution - MissenseStomach
COSM480373c.2068A>Tp.R690*Substitution - NonsenseKidney
COSM4188891c.3303delTp.F1101fs*58Deletion - FrameshiftKidney
COSM422823c.3732C>Ap.C1244*Substitution - NonsenseKidney
COSM1219404c.899+1G>Ap.?UnknownLarge_intestine
COSM1159261c.2047delAp.I683fs*3Deletion - FrameshiftPancreas
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM4186748c.3103T>Cp.C1035RSubstitution - MissenseKidney
COSM1732103c.1528G>Tp.A510SSubstitution - MissenseKidney
COSM1047109c.59A>Gp.D20GSubstitution - MissenseEndometrium
COSM6006365c.3862A>Gp.I1288VSubstitution - MissenseSkin
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM5753368c.?p.Q238*Substitution - NonsenseKidney
COSM1732049c.2890G>Cp.V964LSubstitution - MissenseKidney
COSM1663353c.169A>Gp.I57VSubstitution - MissenseKidney
COSM52819c.3639delAp.E1214fs*4Deletion - FrameshiftKidney
COSM731056c.733A>Tp.I245FSubstitution - MissenseLung
COSM480412c.1369G>Tp.E457*Substitution - NonsenseKidney
COSM3365390c.1804G>Tp.E602*Substitution - NonsenseKidney
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM52828c.1984_1985delCTp.L662fs*2Deletion - FrameshiftKidney
COSM1169587c.2822C>Gp.S941*Substitution - NonsenseOesophagus
COSM423266c.773_774insAp.N258fs*6Insertion - FrameshiftSmall_intestine
COSM3365258c.1854C>Tp.L618LSubstitution - coding silentKidney
COSM480382c.1877G>Tp.G626VSubstitution - MissenseKidney
COSM2854004c.3901C>Tp.P1301SSubstitution - MissenseLarge_intestine
COSM1600086c.4576+2T>Ap.?UnknownPancreas
COSM480450c.508C>Tp.Q170*Substitution - NonsenseKidney
COSM1137076c.384G>Ap.K128KSubstitution - coding silentKidney
COSM423053c.530_534delCTTCTp.P179fs*11Deletion - FrameshiftKidney
COSM399954c.3347C>Gp.S1116*Substitution - NonsenseKidney
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM1169631c.528+1G>Cp.?UnknownKidney
COSM5019959c.1281C>Tp.P427PSubstitution - coding silentSoft_tissue
COSM52847c.1819-1G>Cp.?UnknownKidney
COSM4444071c.2885A>Tp.D962VSubstitution - MissenseLarge_intestine
COSM1169634c.?p.?UnknownSalivary_gland
COSM1194744c.145G>Cp.V49LSubstitution - MissenseLung
COSM423169c.4747delTp.*1583fs?Deletion - FrameshiftKidney
COSM5490579c.3164A>Gp.D1055GSubstitution - MissenseBiliary_tract
COSM422745c.172C>Tp.R58*Substitution - NonsenseKidney
COSM480338c.2941G>Tp.E981*Substitution - NonsenseKidney
COSM3365378c.2934C>Gp.V978VSubstitution - coding silentKidney
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM52910c.3386delAp.K1129fs*30Deletion - FrameshiftKidney
COSM4771421c.529-1G>Tp.?UnknownKidney
COSM1309355c.3973G>Ap.D1325NSubstitution - MissenseUpper_aerodigestive_tract
COSM731071c.2965+1G>Cp.?UnknownLung
COSM52810c.1850T>Ap.L617*Substitution - NonsenseKidney
COSM5720045c.3588C>Tp.F1196FSubstitution - coding silentSkin
COSM422764c.892C>Tp.R298*Substitution - NonsenseKidney
COSM52833c.715-2A>Gp.?UnknownKidney
COSM1732116c.3387+1G>Ap.?UnknownKidney
COSM480412c.1369G>Tp.E457*Substitution - NonsenseKidney
COSM3365404c.1243A>Tp.K415*Substitution - NonsenseKidney
COSM2854033c.3691G>Tp.G1231*Substitution - NonsenseLarge_intestine
COSM4826705c.1724T>Ap.I575NSubstitution - MissenseCervix
COSM4771416c.2837_2837delCp.T946fs*68Deletion - FrameshiftKidney
COSM5829737c.996-5_996-3delTGTp.?UnknownLarge_intestine
COSM4188675c.4211delAp.Y1404fs*28Deletion - FrameshiftKidney
COSM5554640c.4305A>Tp.G1435GSubstitution - coding silentProstate
COSM1169633c.?p.?UnknownKidney
COSM4630885c.4162C>Tp.L1388LSubstitution - coding silentLarge_intestine
COSM3596183c.3185G>Ap.R1062QSubstitution - MissenseSkin
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM52809c.1657A>Tp.K553*Substitution - NonsenseKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM5576282c.3327_3329delTGAp.D1109delDDeletion - In frameStomach
COSM52825c.3393delAp.E1132fs*27Deletion - FrameshiftKidney
COSM3775246c.1747G>Ap.E583KSubstitution - MissenseUrinary_tract
COSM731059c.1367T>Cp.F456SSubstitution - MissenseLung
COSM1047103c.477C>Tp.D159DSubstitution - coding silentStomach
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM52811c.1861A>Gp.K621ESubstitution - MissenseKidney
COSM3358496c.3761_3762insTp.L1255fs*4Insertion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM2854196c.773delAp.N258fs*25Deletion - FrameshiftLarge_intestine
COSM5829731c.3124-3delCp.?UnknownLarge_intestine
COSM1732063c.2638_2639insAp.C880fs*1Insertion - FrameshiftKidney
COSM4186280c.4222G>Tp.E1408*Substitution - NonsenseKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM1732190c.210delGp.E70fs*25Deletion - FrameshiftKidney
COSM423278c.3008_3009insAp.T1004fs*16Insertion - FrameshiftKidney
COSM3427750c.1242G>Tp.K414NSubstitution - MissenseLarge_intestine
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM52928c.645_646ins409p.Q216fs*7Insertion - FrameshiftBreast
COSM52815c.2915delAp.N972fs*42Deletion - FrameshiftKidney
COSM52779c.2335C>Tp.Q779*Substitution - NonsenseKidney
COSM52792c.1303delAp.T435fs*3Deletion - FrameshiftKidney
COSM308475c.753_756delTATAp.D251fs*31Deletion - FrameshiftKidney
COSM4152512c.640A>Tp.K214*Substitution - NonsenseKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM3358490c.3839_3840delCTp.S1280fs*2Deletion - FrameshiftKidney
COSM4152515c.190C>Tp.Q64*Substitution - NonsenseKidney
COSM423281c.3279_3280insTp.V1094fs*13Insertion - FrameshiftKidney
COSM5347624c.237-1_237delGAp.?UnknownLiver
COSM4152501c.1819-2A>Tp.?UnknownKidney
COSM3380653c.2126T>Ap.I709NSubstitution - MissensePancreas
COSM52862c.3471_3472delGCp.W1157fs*23Deletion - FrameshiftKidney
COSM1137064c.4387C>Tp.Q1463*Substitution - NonsenseKidney
COSM1286984c.1088-8_1089delCTTTCCAGCTp.?UnknownAutonomic_ganglia
COSM423138c.3810delAp.K1270fs*5Deletion - FrameshiftKidney
COSM3696197c.1700A>Tp.D567VSubstitution - MissenseLarge_intestine
COSM1744933c.125delCp.P42fs*3Deletion - FrameshiftBiliary_tract
COSM2854087c.2945G>Ap.R982KSubstitution - MissenseLarge_intestine
COSM4604941c.2719A>Tp.K907*Substitution - NonsenseUpper_aerodigestive_tract
COSM5757627c.?p.?UnknownKidney
COSM1732037c.4289-1G>Tp.?UnknownKidney
COSM52825c.3393delAp.E1132fs*27Deletion - FrameshiftKidney
COSM4584550c.765C>Tp.L255LSubstitution - coding silentBone
COSM1047073c.4196C>Ap.A1399DSubstitution - MissenseEndometrium
COSM358003c.3818G>Cp.G1273ASubstitution - MissenseLung
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM4325778c.996-7T>Ap.?UnknownLarge_intestine
COSM5753362c.?p.?fs*?FrameshiftKidney
COSM1732077c.3883delAp.I1295fs*18Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1169603c.4642_4642delAp.S1548fs*18Deletion - FrameshiftKidney
COSM731080c.2998C>Gp.R1000GSubstitution - MissenseLung
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseSkin
COSM4397968c.937C>Tp.P313SSubstitution - MissenseSkin
COSM5463283c.4688G>Ap.R1563QSubstitution - MissenseLarge_intestine
COSM52876c.2520T>Ap.F840LSubstitution - MissenseKidney
COSM4991942c.595C>Tp.P199SSubstitution - MissenseSkin
COSM423101c.2419delAp.I807fs*18Deletion - FrameshiftKidney
COSM1309358c.3926T>Cp.I1309TSubstitution - MissenseUrinary_tract
COSM52851c.2141delTp.M714fs*17Deletion - FrameshiftKidney
COSM422802c.3028C>Tp.R1010*Substitution - NonsenseKidney
COSM480344c.2605C>Tp.Q869*Substitution - NonsenseKidney
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM52836c.1981A>Tp.K661*Substitution - NonsenseKidney
COSM52902c.761T>Cp.L254PSubstitution - MissenseKidney
COSM1744930c.3132delTp.F1044fs*115Deletion - FrameshiftKidney
COSM5646384c.4695_4696insTp.M1566fs*>18Insertion - FrameshiftOesophagus
COSM5764815c.2504G>Ap.R835HSubstitution - MissenseLarge_intestine
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM423150c.3996delAp.D1333fs*51Deletion - FrameshiftKidney
COSM480325c.3534-1G>Cp.?UnknownKidney
COSM5829737c.996-5_996-3delTGTp.?UnknownLarge_intestine
COSM52906c.3033delAp.K1011fs*3Deletion - FrameshiftKidney
COSM4771419c.996-11_996-1>AAp.?UnknownKidney
COSM5895413c.2775_2776delAAp.E927fs*2Deletion - FrameshiftSkin
COSM52784c.1818+1G>Ap.?UnknownKidney
COSM4771415c.2587_2597del11p.E863fs*8Deletion - FrameshiftKidney
COSM3358508c.2977_2980delTTGTp.L993fs*20Deletion - FrameshiftKidney
COSM3358500c.3480delTp.G1161fs*57Deletion - FrameshiftKidney
COSM480303c.4688G>Cp.R1563PSubstitution - MissenseKidney
COSM423056c.682delAp.I228fs*1Deletion - FrameshiftKidney
COSM480335c.3046G>Tp.E1016*Substitution - NonsenseKidney
COSM1665655c.4430delCp.P1477fs*12Deletion - FrameshiftKidney
COSM3775240c.3145G>Ap.E1049KSubstitution - MissenseUrinary_tract
COSM52867c.2124_2125delAAp.K708fs*14Deletion - FrameshiftKidney
COSM1286987c.1797delCp.Y600fs*42Deletion - FrameshiftAutonomic_ganglia
COSM1169602c.842_854del13p.Y281fs*15Deletion - FrameshiftKidney
COSM4002750c.996-4G>Ap.?UnknownKidney
COSM1663333c.3188A>Gp.Y1063CSubstitution - MissenseKidney
COSM5995134c.4586G>Ap.R1529HSubstitution - MissenseProstate
COSM1732060c.3977_3978insTp.E1327fs*1Insertion - FrameshiftKidney
COSM3775243c.2966-1G>Cp.?UnknownUrinary_tract
COSM4535728c.2226G>Ap.E742ESubstitution - coding silentSkin
COSM52810c.1850T>Ap.L617*Substitution - NonsenseKidney
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftLung
COSM52796c.3127_3134delTACTTTAAp.Y1043fs*9Deletion - FrameshiftKidney
COSM5752456c.680delCp.P227fs*2Deletion - FrameshiftBreast
COSM52884c.815delAp.D272fs*11Deletion - FrameshiftKidney
COSM480332c.3143C>Gp.P1048RSubstitution - MissenseKidney
COSM1169649c.3625_3626insAp.M1209fs*11Insertion - FrameshiftKidney
COSM1617879c.2568-2A>Cp.?UnknownLiver
COSM3358567c.423_424insGp.D142fs*9Insertion - FrameshiftKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM3365261c.562C>Tp.Q188*Substitution - NonsenseKidney
COSM52808c.2022T>Gp.D674ESubstitution - MissenseKidney
COSM3775246c.1747G>Ap.E583KSubstitution - MissenseOesophagus
COSM480391c.1803T>Gp.N601KSubstitution - MissenseKidney
COSM5355602c.3263G>Tp.R1088LSubstitution - MissenseLarge_intestine
COSM4921748c.4507T>Cp.Y1503HSubstitution - MissenseLiver
COSM5813977c.1541+1G>Cp.?UnknownLiver
COSM1328123c.2889C>Gp.Y963*Substitution - NonsenseOvary
COSM4950029c.2185delGp.V729fs*2Deletion - FrameshiftLiver
COSM422829c.3956T>Ap.L1319*Substitution - NonsenseKidney
COSM1261003c.2609_2610insCAp.Q870fs*46Insertion - FrameshiftStomach
COSM1485377c.4339G>Cp.G1447RSubstitution - MissenseBreast
COSM1663341c.1300C>Tp.R434*Substitution - NonsenseKidney
COSM4765777c.774_775insAp.A259fs*5Insertion - FrameshiftStomach
COSM52888c.3671delGp.C1224fs*3Deletion - FrameshiftKidney
COSM1633254c.3271C>Gp.P1091ASubstitution - MissenseLiver
COSM52866c.2625delTp.R876fs*39Deletion - FrameshiftKidney
COSM1659585c.3630_3644del15p.F1210_V1215>LComplex - deletion inframeKidney
COSM52858c.236+-6delAGCGAAGGTp.?UnknownKidney
COSM1137067c.3699T>Gp.C1233WSubstitution - MissenseKidney
COSM4411013c.2354T>Gp.L785RSubstitution - MissenseKidney
COSM52791c.2154_2156delCCAp.Y718_Q719>*Complex - deletion inframeKidney
COSM1659919c.3968_3977del10p.D1323fs*58Deletion - FrameshiftKidney
COSM1732055c.1747G>Tp.E583*Substitution - NonsenseKidney
COSM1732083c.2779+1G>Tp.?UnknownKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseBiliary_tract
COSM52787c.1162C>Tp.Q388*Substitution - NonsenseCervix
COSM52860c.2240_2246delAAGATGCp.K747fs*26Deletion - FrameshiftKidney
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftLarge_intestine
COSM322493c.995G>Cp.R332PSubstitution - MissenseLung
COSM422745c.172C>Tp.R58*Substitution - NonsenseKidney
COSM1047079c.3691G>Ap.G1231RSubstitution - MissenseEndometrium
COSM3596171c.3897G>Ap.K1299KSubstitution - coding silentSkin
COSM4119141c.3869A>Tp.Y1290FSubstitution - MissenseStomach
COSM5994796c.171C>Gp.I57MSubstitution - MissenseProstate
COSM1169579c.1316_1316delAp.N439fs*7Deletion - FrameshiftKidney
COSM480332c.3143C>Gp.P1048RSubstitution - MissenseKidney
COSM5011116c.1717C>Ap.H573NSubstitution - MissenseKidney
COSM423144c.3876-18_3876-2del17p.?UnknownKidney
COSM423135c.3745delAp.I1249fs*20Deletion - FrameshiftKidney
COSM51949c.3445G>Tp.E1149*Substitution - NonsenseKidney
COSM5020034c.1925-5T>Cp.?UnknownSoft_tissue
COSM52898c.4472_4474>AAp.P1491fs*14Complex - frameshiftKidney
COSM52790c.4288+1G>Tp.?UnknownKidney
COSM52790c.4288+1G>Tp.?UnknownKidney
COSM480330c.3154C>Tp.R1052*Substitution - NonsenseKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM422778c.1814C>Tp.S605FSubstitution - MissenseSkin
COSM308448c.1942delTp.S648fs*8Deletion - FrameshiftKidney
COSM480397c.1757T>Ap.M586KSubstitution - MissenseKidney
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseEndometrium
COSM1663347c.755T>Cp.I252TSubstitution - MissenseKidney
COSM52873c.602G>Tp.G201VSubstitution - MissenseKidney
COSM52896c.3703delGp.V1235fs*34Deletion - FrameshiftKidney
COSM423044c.329delAp.N110fs*3Deletion - FrameshiftKidney
COSM4711398c.1069_1070insCAp.E357fs*6Insertion - FrameshiftLarge_intestine
COSM4411013c.2354T>Gp.L785RSubstitution - MissenseKidney
COSM3365413c.238A>Tp.N80YSubstitution - MissenseKidney
COSM1495589c.3394G>Tp.E1132*Substitution - NonsenseKidney
COSM4414035c.1861A>Tp.K621*Substitution - NonsenseKidney
COSM422767c.1102G>Tp.E368*Substitution - NonsenseKidney
COSM1169576c.3505_3505delCp.H1169fs*49Deletion - FrameshiftKidney
COSM1744924c.3638_3639insAp.E1214fs*6Insertion - FrameshiftBiliary_tract
COSM3596186c.2411T>Ap.L804*Substitution - NonsenseSkin
COSM52825c.3393delAp.E1132fs*27Deletion - FrameshiftKidney
COSM4152495c.1955C>Ap.S652*Substitution - NonsenseKidney
COSM5011119c.1443G>Tp.Q481HSubstitution - MissenseKidney
COSM422764c.892C>Tp.R298*Substitution - NonsenseKidney
COSM6006365c.3862A>Gp.I1288VSubstitution - MissenseSkin
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM5572890c.2980T>Cp.Y994HSubstitution - MissenseProstate
COSM423092c.2238_2253del16p.K747fs*23Deletion - FrameshiftKidney
COSM4152507c.712C>Tp.Q238*Substitution - NonsenseKidney
COSM4411268c.3920delAp.K1307fs*6Deletion - FrameshiftKidney
COSM52895c.3208_3210delTTTp.F1070delDeletion - In frameKidney
COSM3596177c.3258C>Tp.V1086VSubstitution - coding silentSkin
COSM1137064c.4387C>Tp.Q1463*Substitution - NonsenseKidney
COSM52850c.1930_1939del10p.K644fs*9Deletion - FrameshiftKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM52779c.2335C>Tp.Q779*Substitution - NonsenseKidney
COSM5757627c.?p.?UnknownKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM1169599c.4177_4181delATGAGp.M1393fs*4Deletion - FrameshiftKidney
COSM1495589c.3394G>Tp.E1132*Substitution - NonsenseLiver
COSM52819c.3639delAp.E1214fs*4Deletion - FrameshiftKidney
COSM4185742c.4357C>Tp.Q1453*Substitution - NonsenseKidney
COSM5887824c.2314C>Tp.P772SSubstitution - MissenseUpper_aerodigestive_tract
COSM3358573c.114_120delTTCCAATp.S39fs*4Deletion - FrameshiftKidney
COSM3993231c.2669C>Ap.A890ESubstitution - MissenseKidney
COSM2854066c.3236C>Ap.P1079HSubstitution - MissenseLarge_intestine
COSM52802c.2634delAp.E878fs*37Deletion - FrameshiftKidney
COSM1169591c.3039_3039delAp.E1014fs*19Deletion - FrameshiftKidney
COSM1137079c.237-1G>Ap.?UnknownKidney
COSM52812c.388_401del14p.D130fs*1Deletion - FrameshiftKidney
COSM1663335c.2627G>Ap.R876HSubstitution - MissensePancreas
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM423275c.1953_1954insAp.S652fs*13Insertion - FrameshiftKidney
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM4188945c.2041_2043delAGTp.S681delSDeletion - In frameKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseLarge_intestine
COSM308485c.1583delAp.N528fs*41Deletion - FrameshiftKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM52882c.1999G>Tp.E667*Substitution - NonsenseKidney
COSM423166c.4529_4536delTCAGTGCGp.L1510fs*6Deletion - FrameshiftKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM5720045c.3588C>Tp.F1196FSubstitution - coding silentSkin
COSM1692828c.2200A>Gp.N734DSubstitution - MissenseSkin
COSM52832c.4045delCp.L1349fs*35Deletion - FrameshiftKidney
COSM5049000c.2114A>Gp.D705GSubstitution - MissenseOesophagus
COSM1169652c.2210_2211insGp.Y738fs*3Insertion - FrameshiftKidney
COSM1309355c.3973G>Ap.D1325NSubstitution - MissenseUrinary_tract
COSM2854093c.2773A>Cp.K925QSubstitution - MissenseLarge_intestine
COSM3358520c.2622_2624delAATp.K874_I875>NComplex - deletion inframeKidney
COSM1732041c.1612T>Cp.S538PSubstitution - MissenseKidney
COSM4325772c.996-6T>Ap.?UnknownLarge_intestine
COSM5748999c.2005G>Cp.V669LSubstitution - MissensePancreas
COSM52797c.162_163delTAp.Y54fs*1Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1495589c.3394G>Tp.E1132*Substitution - NonsenseLiver
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM1047103c.477C>Tp.D159DSubstitution - coding silentEndometrium
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM3365395c.1568T>Gp.M523RSubstitution - MissenseKidney
COSM5059865c.1631A>Gp.D544GSubstitution - MissenseStomach
COSM52849c.2965+1delGTAAp.?UnknownKidney
COSM422748c.207T>Ap.C69*Substitution - NonsenseKidney
COSM4186192c.2884G>Tp.D962YSubstitution - MissenseKidney
COSM5748999c.2005G>Cp.V669LSubstitution - MissensePancreas
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM4584547c.3335A>Gp.N1112SSubstitution - MissenseBone
COSM5499481c.772_773insAp.N258fs*6Insertion - FrameshiftBiliary_tract
COSM5642805c.2240A>Gp.K747RSubstitution - MissenseAutonomic_ganglia
COSM5075572c.2551G>Ap.A851TSubstitution - MissenseKidney
COSM4119171c.348C>Tp.F116FSubstitution - coding silentStomach
COSM1169580c.3859G>Ap.E1287KSubstitution - MissenseKidney
COSM52806c.646-5T>Gp.?UnknownKidney
COSM5572890c.2980T>Cp.Y994HSubstitution - MissenseProstate
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM480429c.814-1G>Ap.?UnknownKidney
COSM52877c.1114G>Tp.E372*Substitution - NonsenseKidney
COSM1169653c.3639_3640insAp.E1214fs*6Insertion - FrameshiftKidney
COSM4929817c.3740C>Tp.T1247ISubstitution - MissenseLiver
COSM4325778c.996-7T>Ap.?UnknownLarge_intestine
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM1732026c.610A>Cp.I204LSubstitution - MissenseKidney
COSM4437997c.527G>Cp.G176ASubstitution - MissenseOesophagus
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM5032219c.?p.R1010*Substitution - NonsenseLung
COSM1753305c.4530C>Tp.L1510LSubstitution - coding silentUrinary_tract
COSM4771391c.4045_4046insCp.L1349fs*4Insertion - FrameshiftKidney
COSM3408802c.3743A>Gp.E1248GSubstitution - MissenseCentral_nervous_system
COSM422796c.2770G>Tp.E924*Substitution - NonsenseKidney
COSM3365375c.3143C>Tp.P1048LSubstitution - MissenseKidney
COSM5692857c.3789G>Cp.E1263DSubstitution - MissenseSoft_tissue
COSM4119153c.2999G>Ap.R1000QSubstitution - MissenseStomach
COSM1732080c.2327delTp.L776fs*2Deletion - FrameshiftKidney
COSM1659441c.438delAp.T147fs*27Deletion - FrameshiftKidney
COSM4766063c.397G>Ap.E133KSubstitution - MissenseSoft_tissue
COSM5995137c.4176G>Ap.E1392ESubstitution - coding silentProstate
COSM52779c.2335C>Tp.Q779*Substitution - NonsenseBiliary_tract
COSM52807c.694A>Cp.T232PSubstitution - MissenseKidney
COSM423083c.2091_2101del11p.Y697fs*1Deletion - FrameshiftKidney
COSM4169396c.?p.P1174fs*?UnknownSkin
COSM423101c.2419delAp.I807fs*18Deletion - FrameshiftKidney
COSM422767c.1102G>Tp.E368*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM1617876c.3948_3949insTp.A1317fs*8Insertion - FrameshiftLiver
COSM363944c.1393C>Tp.P465SSubstitution - MissenseLung
COSM480400c.1739A>Gp.Y580CSubstitution - MissenseKidney
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM1169583c.766G>Cp.A256PSubstitution - MissenseKidney
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM4603746c.1658delAp.K553fs*16Deletion - FrameshiftUpper_aerodigestive_tract
COSM5566660c.2128C>Gp.R710GSubstitution - MissenseProstate
COSM4119156c.2890G>Ap.V964ISubstitution - MissenseStomach
COSM4991933c.3002C>Ap.P1001QSubstitution - MissenseSkin
COSM1261009c.313G>Tp.E105*Substitution - NonsenseOesophagus
COSM1663335c.2627G>Ap.R876HSubstitution - MissenseLarge_intestine
COSM52869c.4187_4199del13p.V1396fs*32Deletion - FrameshiftKidney
COSM4002750c.996-4G>Ap.?UnknownLarge_intestine
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM1659673c.2088C>Gp.Y696*Substitution - NonsenseKidney
COSM52885c.2212_2217delTACAATp.Y738_N739delYNDeletion - In frameKidney
COSM5609778c.3649C>Tp.L1217LSubstitution - coding silentSkin
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM1732069c.2646_2647delTGp.N882fs*18Deletion - FrameshiftKidney
COSM1424543c.2506C>Tp.R836WSubstitution - MissenseKidney
COSM1732128c.360delTp.F120fs*54Deletion - FrameshiftKidney
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseStomach
COSM4149625c.2874C>Gp.Y958*Substitution - NonsenseKidney
COSM1169596c.2716A>Tp.R906*Substitution - NonsenseKidney
COSM3358487c.3839_3844delCTGCTAp.S1280_K1282>*Complex - deletion inframeKidney
COSM5609766c.2999G>Tp.R1000LSubstitution - MissenseSkin
COSM5753358c.?p.K1282fs*?FrameshiftKidney
COSM5753352c.?p.H24fs*?FrameshiftKidney
COSM2854039c.3548G>Ap.W1183*Substitution - NonsenseSkin
COSM1717435c.?p.E367*Substitution - NonsenseBiliary_tract
COSM4950029c.2185delGp.V729fs*2Deletion - FrameshiftLiver
COSM3365416c.28T>Ap.S10TSubstitution - MissenseKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM4169395c.?p.R1173CSubstitution - MissenseSkin
COSM480367c.2128C>Tp.R710*Substitution - NonsenseBiliary_tract
COSM422793c.2761C>Tp.R921*Substitution - NonsenseKidney
COSM480370c.2126T>Cp.I709TSubstitution - MissenseKidney
COSM480453c.478G>Tp.E160*Substitution - NonsenseKidney
COSM4771389c.3068_3069insAp.Y1023fs*1Insertion - FrameshiftKidney
COSM480438c.715-1G>Ap.?UnknownKidney
COSM52823c.3217delAp.I1073fs*86Deletion - FrameshiftKidney
COSM4152489c.3875+1G>Tp.?UnknownKidney
COSM5834718c.4575_4576insAp.A1526fs*>58Insertion - FrameshiftBreast
COSM308472c.2684_2685insTp.H897fs*4Insertion - FrameshiftKidney
COSM423121c.3454delCp.H1152fs*7Deletion - FrameshiftKidney
COSM423074c.1577delTp.L526fs*43Deletion - FrameshiftKidney
COSM3824340c.3040G>Cp.E1014QSubstitution - MissenseBreast
COSM423065c.1305delAp.K436fs*2Deletion - FrameshiftKidney
COSM1169567c.235_235delAp.R79fs*16Deletion - FrameshiftKidney
COSM5433727c.180T>Gp.Y60*Substitution - NonsenseOesophagus
COSM308463c.3124-1G>Ap.?UnknownKidney
COSM422775c.1727G>Cp.R576PSubstitution - MissenseKidney
COSM1169584c.4352_4352delGp.G1451fs*38Deletion - FrameshiftKidney
COSM5968376c.2388G>Tp.E796DSubstitution - MissenseGenital_tract
COSM308451c.1586_1587insTp.V530fs*3Insertion - FrameshiftKidney
COSM422805c.3110T>Gp.V1037GSubstitution - MissenseKidney
COSM422811c.3388G>Tp.E1130*Substitution - NonsenseKidney
COSM52779c.2335C>Tp.Q779*Substitution - NonsenseBreast
COSM1665684c.439delAp.T147fs*27Deletion - FrameshiftKidney
COSM422772c.1443+1G>Tp.?UnknownKidney
COSM423086c.2203_2212del10p.A735fs*7Deletion - FrameshiftKidney
COSM4152515c.190C>Tp.Q64*Substitution - NonsensePancreas
COSM423157c.4349_4350delATp.Y1450fs*58Deletion - FrameshiftKidney
COSM1309364c.2335C>Gp.Q779ESubstitution - MissenseUrinary_tract
COSM5024579c.2324C>Tp.T775ISubstitution - MissenseLarge_intestine
COSM5720045c.3588C>Tp.F1196FSubstitution - coding silentSkin
COSM480330c.3154C>Tp.R1052*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM4881838c.3841G>Tp.A1281SSubstitution - MissenseUpper_aerodigestive_tract
COSM5757628c.?p.?UnknownKidney
COSM3357731c.364A>Tp.N122YSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3358511c.2929_2930delATp.I977fs*4Deletion - FrameshiftKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseKidney
COSM422745c.172C>Tp.R58*Substitution - NonsenseKidney
COSM1169586c.1248_1248delAp.K416fs*22Deletion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM52844c.1569G>Tp.M523ISubstitution - MissenseBreast
COSM1169566c.4661_4680del20p.M1555fs*23Deletion - FrameshiftKidney
COSM1665663c.3188_3189delATp.Y1063fs*8Deletion - FrameshiftKidney
COSM5753364c.?p.E532*Substitution - NonsenseKidney
COSM1665967c.2965+1G>Tp.?UnknownKidney
COSM4777524c.1535_1535delGp.R512fs*7Deletion - FrameshiftBreast
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM3358544c.1642delGp.V548fs*21Deletion - FrameshiftKidney
COSM480330c.3154C>Tp.R1052*Substitution - NonsenseKidney
COSM1732139c.3222delAp.K1074fs*85Deletion - FrameshiftKidney
COSM4394724c.1514C>Tp.S505FSubstitution - MissenseSkin
COSM4119177c.182A>Cp.K61TSubstitution - MissenseStomach
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftKidney
COSM423127c.3544delGp.V1182fs*36Deletion - FrameshiftKidney
COSM5753355c.?p.F684YSubstitution - MissenseKidney
COSM422790c.2632G>Tp.E878*Substitution - NonsenseKidney
COSM1665964c.3533+1G>Ap.?UnknownKidney
COSM5572890c.2980T>Cp.Y994HSubstitution - MissenseProstate
COSM6006365c.3862A>Gp.I1288VSubstitution - MissenseSkin
COSM423065c.1305delAp.K436fs*2Deletion - FrameshiftKidney
COSM1186317c.1816C>Tp.Q606*Substitution - NonsenseLung
COSM3358561c.810delCp.F270fs*13Deletion - FrameshiftKidney
COSM52814c.1822delTp.Y608fs*34Deletion - FrameshiftKidney
COSM52817c.405_418del14p.K135fs*11Deletion - FrameshiftKidney
COSM423287c.4448_4449insCp.T1484fs*25Insertion - FrameshiftKidney
COSM480385c.1853T>Ap.L618HSubstitution - MissenseKidney
COSM480447c.528+1G>Tp.?UnknownKidney
COSM1169597c.599C>Ap.S200*Substitution - NonsenseKidney
COSM52840c.4520T>Ap.I1507NSubstitution - MissenseKidney
COSM4747249c.3149delAp.N1050fs*109Deletion - FrameshiftStomach
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM4943285c.3427C>Gp.P1143ASubstitution - MissenseBreast
COSM4410598c.1168_1169insTp.Y390fs*2Insertion - FrameshiftKidney
COSM423163c.4379delCp.P1460fs*29Deletion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM446842c.1758G>Ap.M586ISubstitution - MissenseBreast
COSM5047989c.1738T>Cp.Y580HSubstitution - MissenseOesophagus
COSM480459c.139-2A>Gp.?UnknownKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownBiliary_tract
COSM52831c.1802_1805>TAp.N601fs*8Complex - frameshiftKidney
COSM5490620c.3785A>Gp.N1262SSubstitution - MissenseBiliary_tract
COSM480317c.3783C>Ap.Y1261*Substitution - NonsenseKidney
COSM480406c.1453A>Tp.K485*Substitution - NonsenseKidney
COSM3358547c.1444-1_1454delGGCAAAGAAGAAp.?UnknownKidney
COSM5572890c.2980T>Cp.Y994HSubstitution - MissenseProstate
COSM3945600c.824C>Tp.S275LSubstitution - MissenseLung
COSM5006581c.?ins?p.?fs*?Insertion - FrameshiftKidney
COSM52799c.204_205delCTp.C69fs*1Deletion - FrameshiftKidney
COSM423083c.2091_2101del11p.Y697fs*1Deletion - FrameshiftKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseLarge_intestine
COSM3358538c.1824_1825delTAp.Y608fs*1Deletion - FrameshiftKidney
COSM480314c.3861A>Cp.E1287DSubstitution - MissenseKidney
COSM1169649c.3625_3626insAp.M1209fs*11Insertion - FrameshiftKidney
COSM3596180c.3189T>Ap.Y1063*Substitution - NonsenseSkin
COSM4771420c.290_290delTp.I97fs*5Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM3824343c.2656C>Gp.L886VSubstitution - MissenseBreast
COSM4411013c.2354T>Gp.L785RSubstitution - MissenseKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftStomach
COSM4119162c.2156A>Gp.Q719RSubstitution - MissenseStomach
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1047097c.824C>Ap.S275*Substitution - NonsenseEndometrium
COSM3358472c.4355_4356insAAp.Q1453fs*37Insertion - FrameshiftKidney
COSM5782382c.3692-7C>Gp.?UnknownBreast
COSM3365372c.3182C>Ap.S1061*Substitution - NonsenseKidney
COSM4152492c.2254C>Gp.L752VSubstitution - MissenseKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM3358526c.2495delAp.N832fs*23Deletion - FrameshiftKidney
COSM1663347c.755T>Cp.I252TSubstitution - MissenseKidney
COSM1169634c.?p.?UnknownKidney
COSM422802c.3028C>Tp.R1010*Substitution - NonsenseKidney
COSM3427744c.2497C>Tp.R833CSubstitution - MissenseLarge_intestine
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM52779c.2335C>Tp.Q779*Substitution - NonsenseKidney
COSM5951575c.3392_3393insAp.E1132fs*11Insertion - FrameshiftOesophagus
COSM52855c.483delTp.D161fs*13Deletion - FrameshiftKidney
COSM1162015c.1167_1168insTp.Y390fs*2Insertion - FrameshiftKidney
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM3365407c.884C>Ap.S295*Substitution - NonsenseKidney
COSM422784c.2354T>Cp.L785PSubstitution - MissenseKidney
COSM5030939c.?p.E742*Substitution - NonsenseKidney
COSM1732154c.1170T>Gp.Y390*Substitution - NonsenseKidney
COSM4771423c.4015_4015delCp.P1339fs*45Deletion - FrameshiftKidney
COSM3427747c.1381C>Tp.R461CSubstitution - MissenseSoft_tissue
COSM4711392c.1550A>Gp.N517SSubstitution - MissenseLarge_intestine
COSM423062c.1119_1122delAGAAp.E374fs*29Deletion - FrameshiftKidney
COSM1732097c.3470G>Ap.W1157*Substitution - NonsenseKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentHaematopoietic_and_lymphoid_tissue
COSM52929c.1924_1925ins383p.S642fs*5Insertion - FrameshiftBreast
COSM4488165c.3358C>Tp.R1120*Substitution - NonsenseSkin
COSM1617879c.2568-2A>Cp.?UnknownLiver
COSM3358514c.2927delAp.H976fs*38Deletion - FrameshiftKidney
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseKidney
COSM422764c.892C>Tp.R298*Substitution - NonsenseKidney
COSM3974510c.2364A>Tp.S788SSubstitution - coding silentCentral_nervous_system
COSM480450c.508C>Tp.Q170*Substitution - NonsenseKidney
COSM5720045c.3588C>Tp.F1196FSubstitution - coding silentSkin
COSM1169634c.?p.?UnknownKidney
COSM3358553c.1009delGp.V337fs*25Deletion - FrameshiftKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM5753362c.?p.?fs*?FrameshiftKidney
COSM1309361c.3394G>Ap.E1132KSubstitution - MissenseUrinary_tract
COSM52803c.384+3A>Tp.?UnknownKidney
COSM4771387c.3710C>Gp.S1237*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM1665658c.3751_3753delGAAp.E1251delEDeletion - In frameKidney
COSM4766064c.469G>Ap.A157TSubstitution - MissenseSoft_tissue
COSM1219401c.3179A>Gp.E1060GSubstitution - MissenseLarge_intestine
COSM52785c.1790C>Ap.A597DSubstitution - MissenseKidney
COSM423098c.2376_2391del16p.H792fs*8Deletion - FrameshiftKidney
COSM52781c.3892C>Tp.Q1298*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM4188466c.3491T>Gp.V1164GSubstitution - MissenseKidney
COSM52894c.253delTp.Y85fs*10Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM1137064c.4387C>Tp.Q1463*Substitution - NonsenseKidney
COSM1725124c.3530G>Tp.G1177VSubstitution - MissenseLiver
COSM52870c.3625_3642del18p.M1209_E1214delMFYKKEDeletion - In frameKidney
COSM1732119c.184G>Tp.D62YSubstitution - MissenseKidney
COSM1169571c.4566_4576del11p.Q1522fs*59Deletion - FrameshiftKidney
COSM307747c.4123G>Tp.E1375*Substitution - NonsenseKidney
COSM4119144c.3388-2A>Cp.?UnknownStomach
COSM3392504c.403A>Gp.K135ESubstitution - MissensePancreas
COSM1663344c.842A>Tp.Y281FSubstitution - MissenseKidney
COSM1665666c.3054_3056delTAAp.F1018_K1019>LComplex - deletion inframeKidney
COSM2854238c.196A>Gp.R66GSubstitution - MissenseLarge_intestine
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM52834c.941C>Ap.S314*Substitution - NonsenseKidney
COSM4612157c.4472delCp.P1491fs*14Deletion - FrameshiftLarge_intestine
COSM423039c.215_219delTCATTp.F72fs*1Deletion - FrameshiftKidney
COSM4711395c.1248_1249insAp.Y417fs*3Insertion - FrameshiftLarge_intestine
COSM3974504c.4080C>Tp.P1360PSubstitution - coding silentCentral_nervous_system
COSM3596168c.4570C>Tp.L1524LSubstitution - coding silentSkin
COSM3824337c.3111C>Tp.V1037VSubstitution - coding silentBreast
COSM480379c.1906T>Cp.S636PSubstitution - MissenseKidney
COSM328125c.1479C>Tp.I493ISubstitution - coding silentPancreas
COSM4411268c.3920delAp.K1307fs*6Deletion - FrameshiftKidney
COSM480426c.898A>Gp.R300GSubstitution - MissenseKidney
COSM4771425c.2155C>Tp.Q719*Substitution - NonsenseKidney
COSM52854c.363_364delCAp.N121fs*7Deletion - FrameshiftKidney
COSM52820c.4589delAp.D1530fs*17Deletion - FrameshiftKidney
COSM52789c.4087-3C>Gp.?UnknownKidney
COSM423080c.2068delAp.R690fs*9Deletion - FrameshiftKidney
COSM4002747c.3597A>Tp.P1199PSubstitution - coding silentSoft_tissue
COSM422802c.3028C>Tp.R1010*Substitution - NonsenseKidney
COSM4646096c.1577T>Ap.L526*Substitution - NonsenseLarge_intestine
COSM5047700c.3328G>Tp.E1110*Substitution - NonsenseOesophagus
COSM5609775c.3957A>Gp.L1319LSubstitution - coding silentSkin
COSM4605535c.519G>Ap.V173VSubstitution - coding silentUpper_aerodigestive_tract
COSM5748999c.2005G>Cp.V669LSubstitution - MissensePancreas
COSM480347c.2578G>Ap.E860KSubstitution - MissenseKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseLarge_intestine
COSM423089c.2214_2222delCAATGAGCCp.Y738_P741>*Complex - deletion inframeKidney
COSM1186320c.1744G>Ap.G582SSubstitution - MissenseLung
COSM4711401c.835_836insAAp.I279fs*5Insertion - FrameshiftLarge_intestine
COSM52788c.1273A>Tp.K425*Substitution - NonsenseKidney
COSM3596165c.4693T>Ap.L1565MSubstitution - MissenseSkin
COSM480438c.715-1G>Ap.?UnknownOesophagus
COSM1424529c.4590C>Tp.D1530DSubstitution - coding silentLarge_intestine
COSM5782382c.3692-7C>Gp.?UnknownBreast
COSM423272c.1713_1714insTTp.E572fs*16Insertion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM5355608c.3645A>Gp.V1215VSubstitution - coding silentLarge_intestine
COSM5006581c.?ins?p.?fs*?Insertion - FrameshiftKidney
COSM52893c.2616_2617insTp.I873fs*2Insertion - FrameshiftKidney
COSM4188505c.102_103delAAp.R35fs*17Deletion - FrameshiftKidney
COSM52845c.1620A>Cp.R540SSubstitution - MissenseKidney
COSM480367c.2128C>Tp.R710*Substitution - NonsenseLarge_intestine
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM4766065c.4066_4067ins?p.M1356fsInsertion - FrameshiftSoft_tissue
COSM423284c.3881_3882insCp.I1295fs*21Insertion - FrameshiftKidney
COSM480359c.2363C>Ap.S788*Substitution - NonsenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM52784c.1818+1G>Ap.?UnknownKidney
COSM423147c.3898_3900delGAGp.E1300delEDeletion - In frameKidney
COSM423110c.2864delAp.N955fs*59Deletion - FrameshiftLarge_intestine
COSM1169595c.3052_3054delTTTp.F1018delDeletion - In frameKidney
COSM3993234c.1542-1G>Ap.?UnknownKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM4991939c.1653C>Tp.S551SSubstitution - coding silentSkin
COSM383345c.1376C>Gp.A459GSubstitution - MissenseLung
COSM4169396c.?p.P1174fs*?UnknownSkin
COSM1732172c.3091delAp.I1031fs*2Deletion - FrameshiftKidney
COSM3596198c.1082T>Ap.L361*Substitution - NonsenseSkin
COSM4152486c.4120A>Tp.K1374*Substitution - NonsenseKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownBone
COSM5631941c.4289-1G>Ap.?UnknownOesophagus
COSM3358570c.324delTp.D108fs*5Deletion - FrameshiftKidney
COSM4381519c.3838T>Cp.S1280PSubstitution - MissenseLarge_intestine
COSM4189111c.377_384+1delATTATAAGGp.?UnknownKidney
COSM52905c.3199delAp.T1067fs*92Deletion - FrameshiftKidney
COSM52891c.2662_2663insAp.S888fs*13Insertion - FrameshiftKidney
COSM422781c.1962C>Gp.Y654*Substitution - NonsenseKidney
COSM1424540c.2973delAp.K991fs*23Deletion - FrameshiftKidney
COSM4771393c.?p.K414*Substitution - NonsenseKidney
COSM4404941c.2886T>Cp.D962DSubstitution - coding silentSkin
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM423160c.4377_4378delTCp.P1460fs*48Deletion - FrameshiftKidney
COSM52803c.384+3A>Tp.?UnknownKidney
COSM3596183c.3185G>Ap.R1062QSubstitution - MissenseCentral_nervous_system
COSM1732016c.2466delTp.F822fs*3Deletion - FrameshiftKidney
COSM1169634c.?p.?UnknownKidney
COSM399954c.3347C>Gp.S1116*Substitution - NonsenseLung
COSM52794c.1455delAp.E486fs*14Deletion - FrameshiftKidney
COSM52868c.2126_2127insAp.R710fs*13Insertion - FrameshiftStomach
COSM422799c.2779+1G>Ap.?UnknownKidney
COSM423113c.2944_2951delAGACTGTGp.R982fs*6Deletion - FrameshiftKidney
COSM480353c.2548C>Tp.R850*Substitution - NonsenseOesophagus
COSM1169570c.3335_3335delAp.N1112fs*47Deletion - FrameshiftKidney
COSM4771400c.3640_3641delGAp.E1214fs*5Deletion - FrameshiftKidney
COSM5003431c.1891G>Ap.D631NSubstitution - MissensePancreas
COSM6006959c.2066C>Tp.S689FSubstitution - MissenseProstate
COSM4169395c.?p.R1173CSubstitution - MissenseSkin
COSM1732159c.773A>Tp.N258ISubstitution - MissenseKidney
COSM4002744c.4335A>Gp.P1445PSubstitution - coding silentSoft_tissue
COSM1732193c.715-1G>Cp.?UnknownKidney
COSM731062c.1782C>Tp.F594FSubstitution - coding silentLung
COSM5346290c.3387+1G>Tp.?UnknownUrinary_tract
COSM52813c.1925-3delTAGGTAGGAAGAGTGGCATTTCTCCTAAAAAATCAAAAp.?UnknownKidney
COSM480341c.2627G>Tp.R876LSubstitution - MissenseKidney
COSM423110c.2864delAp.N955fs*59Deletion - FrameshiftKidney
COSM1732066c.2639G>Ap.C880YSubstitution - MissenseKidney
COSM52833c.715-2A>Gp.?UnknownKidney
COSM3358523c.2507_2528del22p.R836fs*12Deletion - FrameshiftKidney
COSM1732182c.1843G>Tp.E615*Substitution - NonsenseKidney
COSM52840c.4520T>Ap.I1507NSubstitution - MissenseKidney
COSM4411130c.4232G>TTp.R1411fs*11Complex - frameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM480388c.1840C>Gp.L614VSubstitution - MissenseKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM52856c.484delGp.D162fs*12Deletion - FrameshiftKidney
COSM52859c.232_236delCGAAGp.R78fs*7Deletion - FrameshiftKidney
COSM4119165c.1727G>Ap.R576HSubstitution - MissenseStomach
COSM1633260c.1302A>Gp.R434RSubstitution - coding silentLiver
COSM480435c.727A>Tp.K243*Substitution - NonsenseKidney
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseLarge_intestine
COSM5708833c.3194C>Tp.A1065VSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM52892c.1709_1710insTp.I571fs*2Insertion - FrameshiftKidney
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseLarge_intestine
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM52842c.1318C>Tp.Q440*Substitution - NonsenseKidney
COSM1169585c.3415_3421delTCCAATGp.S1139fs*18Deletion - FrameshiftKidney
COSM1753308c.4488G>Ap.R1496RSubstitution - coding silentUrinary_tract
COSM4920091c.1414C>Tp.R472*Substitution - NonsenseLiver
COSM5016014c.295delCp.Q99fs*3Deletion - FrameshiftKidney
COSM5095293c.4702C>Tp.R1568WSubstitution - MissenseThymus
COSM4771402c.3698G>Tp.C1233FSubstitution - MissenseKidney
COSM3358558c.811_813delAAGp.K271delKDeletion - In frameKidney
COSM5006566c.?_?del?p.?fs*?Deletion - FrameshiftKidney
COSM1169594c.3255_3255delTp.F1085fs*74Deletion - FrameshiftKidney
COSM5985615c.?p.D762HSubstitution - MissenseSalivary_gland
COSM3358502c.3309_3310insGp.A1104fs*3Insertion - FrameshiftKidney
COSM52897c.836_838>AAp.I279fs*4Complex - frameshiftKidney
COSM4991936c.2521C>Tp.Q841*Substitution - NonsenseSkin
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM4766066c.1922_1922delTp.L641fs*15Deletion - FrameshiftSoft_tissue
COSM422814c.3534-1G>Tp.?UnknownKidney
COSM52798c.169_171delATCp.I57delDeletion - In frameKidney
COSM422756c.237-3C>Ap.?UnknownKidney
COSM423141c.3869_3875+9del16p.?UnknownKidney
COSM1047106c.224C>Tp.A75VSubstitution - MissenseEndometrium
COSM52823c.3217delAp.I1073fs*86Deletion - FrameshiftKidney
COSM4778489c.3823A>Tp.K1275*Substitution - NonsenseLiver
COSM1169650c.3620_3621insAp.M1209fs*11Insertion - FrameshiftKidney
COSM480417c.1302-1G>Tp.?UnknownKidney
COSM52863c.835delAp.I279fs*4Deletion - FrameshiftKidney
COSM423077c.2031_2036delTCGCCGp.R678_R679delRRDeletion - In frameKidney
COSM1753308c.4488G>Ap.R1496RSubstitution - coding silentUrinary_tract
COSM5019205c.996-4delGp.?UnknownSoft_tissue
COSM3596195c.1134C>Tp.S378SSubstitution - coding silentSkin
COSM52907c.3712_3733del22p.F1238fs*24Deletion - FrameshiftKidney
COSM52778c.4499C>Gp.S1500*Substitution - NonsenseKidney
COSM480330c.3154C>Tp.R1052*Substitution - NonsenseCentral_nervous_system
COSM3596174c.3808A>Cp.K1270QSubstitution - MissenseSkin
COSM3775237c.3784A>Gp.N1262DSubstitution - MissenseUrinary_tract
COSM5611347c.4703_4704GG>AAp.R1568QSubstitution - MissenseSkin
COSM52781c.3892C>Tp.Q1298*Substitution - NonsenseKidney
COSM1169598c.1587_1587delTp.V530fs*39Deletion - FrameshiftKidney
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM5887821c.2315C>Tp.P772LSubstitution - MissenseUpper_aerodigestive_tract
COSM480364c.2153A>Gp.Y718CSubstitution - MissenseKidney
COSM1665681c.625delCp.Q209fs*15Deletion - FrameshiftKidney
COSM4119156c.2890G>Ap.V964ISubstitution - MissenseSkin
COSM423050c.529-16_532del20p.?UnknownKidney
COSM423104c.2618_2625delTTAAAATTp.I873fs*2Deletion - FrameshiftKidney
COSM5753360c.?p.H573fs*?FrameshiftKidney
COSM52844c.1569G>Tp.M523ISubstitution - MissenseKidney
COSM5020550c.2932G>Ap.V978ISubstitution - MissenseSoft_tissue
COSM1291746c.1337A>Gp.D446GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM2854153c.1600C>Tp.R534*Substitution - NonsensePancreas
COSM4186420c.1998T>Gp.Y666*Substitution - NonsenseKidney
COSM5753353c.?p.S987*Substitution - NonsenseKidney
COSM4949725c.3327_3348del22p.D1109fs*43Deletion - FrameshiftLiver
COSM5899948c.4487G>Ap.R1496QSubstitution - MissenseSkin
COSM387332c.1858G>Cp.E620QSubstitution - MissenseLung
COSM52842c.1318C>Tp.Q440*Substitution - NonsenseKidney
COSM3358532c.2090delAp.Y697fs*2Deletion - FrameshiftKidney
COSM3775234c.4638G>Ap.L1546LSubstitution - coding silentUrinary_tract
COSM4410707c.435delTp.R146fs*28Deletion - FrameshiftKidney
COSM3365393c.1583A>Tp.N528ISubstitution - MissenseKidney
COSM5048924c.1148C>Gp.S383*Substitution - NonsenseOesophagus
COSM5753351c.?p.I571VSubstitution - MissenseKidney
COSM52784c.1818+1G>Ap.?UnknownKidney
COSM1660128c.813+1G>Ap.?UnknownKidney
COSM52803c.384+3A>Tp.?UnknownKidney
COSM52838c.3553C>Tp.R1185*Substitution - NonsenseKidney
COSM307750c.3123+1G>Ap.?UnknownSkin
COSM480356c.2536G>Tp.E846*Substitution - NonsenseKidney
COSM4152498c.1863A>Tp.K621NSubstitution - MissenseKidney
COSM1732023c.613A>Tp.S205CSubstitution - MissenseKidney
COSM423059c.1034delTp.T346fs*16Deletion - FrameshiftKidney
COSM1169588c.2224_2235del12p.E742_I745delDeletion - In frameKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM1633257c.1727G>Tp.R576LSubstitution - MissenseLiver
COSM52875c.1203delGp.Q402fs*2Deletion - FrameshiftKidney
COSM3358517c.2789delAp.K930fs*84Deletion - FrameshiftKidney
COSM1047085c.3100A>Tp.K1034*Substitution - NonsenseKidney
COSM3358555c.994delCp.R332fs*30Deletion - FrameshiftKidney
COSM1732110c.1060G>Tp.E354*Substitution - NonsenseKidney
COSM5490532c.1069G>Tp.E357*Substitution - NonsenseBiliary_tract
COSM4770177c.4576+5_4576+6insGAGp.?UnknownSoft_tissue
COSM423153c.4110delCp.S1371fs*13Deletion - FrameshiftKidney
COSM1169582c.1750_1752delGp.(E584)fs*?Deletion - FrameshiftKidney
COSM307750c.3123+1G>Ap.?UnknownKidney
COSM422793c.2761C>Tp.R921*Substitution - NonsenseEndometrium
COSM1744927c.2111_2114delTGGAp.M704fs*9Deletion - FrameshiftBiliary_tract
COSM5753357c.?p.H712PSubstitution - MissenseKidney
COSM1169573c.4431_4437delTGTCATAp.V1478fs*9Deletion - FrameshiftKidney
COSM422751c.236G>Tp.R79ISubstitution - MissenseKidney
COSM1566684c.2211A>Gp.T737TSubstitution - coding silentSoft_tissue
COSM1666105c.4157_4158insACp.Y1386fs*1Insertion - FrameshiftKidney
COSM3365381c.2784T>Cp.A928ASubstitution - coding silentKidney
COSM4602528c.3032A>Gp.K1011RSubstitution - MissenseUpper_aerodigestive_tract
COSM480444c.529-2A>Tp.?UnknownKidney
COSM5753367c.?p.V964delDeletion - In frameKidney
COSM1169578c.2125_2125delAp.I709fs*5Deletion - FrameshiftKidney
COSM1665652c.4510_4512delCTGp.L1504delLDeletion - In frameKidney
COSM3940593c.1864A>Gp.R622GSubstitution - MissenseOesophagus
COSM422802c.3028C>Tp.R1010*Substitution - NonsenseKidney
COSM3365410c.726C>Gp.Y242*Substitution - NonsenseKidney
COSM1732187c.2351_2354delATCTp.N784fs*6Deletion - FrameshiftKidney
COSM4991945c.374C>Tp.S125FSubstitution - MissenseSkin
COSM1169633c.?p.?UnknownKidney
COSM423269c.998_999insAp.N333fs*2Insertion - FrameshiftKidney
COSM5829734c.996-4_996-3delGTp.?UnknownLarge_intestine
COSM1745029c.845_846delTGp.M282fs*4Deletion - FrameshiftUrinary_tract
> Text Mining based Variations
 
PMID Variation Cancer Evidence
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).
23222069mutationKidney CarcinomaThe recent sequencings of whole exomes have described frequent mutations in other genes of the SWI/SNF complex: mutations in ARID1A in liver, gastric or bladder carcinomas, and PBRM1 mutations in renal cancers.
24185509mutation (loss of function)CholangiocarcinomaThrough exomic sequencing of 32 intrahepatic cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling genes (including BAP1, ARID1A and PBRM1), and mutation in one of these genes occurred in almost half of the carcinomas sequenced.
27556922mutationClear Cell Renal Cell CarcinomaRecent large-scale next-generation sequencing analyses reveal that PBRM1 is the second most frequently mutated gene harboring many truncated mutations and has a suspected tumor suppressor role in ccRCC.
27407122mutationRenal Cell CarcinomaConsidering the genes known to be mutated in RCC at significant frequency, PBRM1 mutations were identified in 7 ERs (54%) versus 1 PRP (7%) (P=.01).
26864202mutationClear Cell Renal Cell CarcinomaThe most frequent SSNVs shared by carcinomatous and sarcomatoid elements were in known ccRCC genes including von Hippel-Lindau tumor suppressor (VHL), polybromo 1 (PBRM1), SET domain containing 2 (SETD2), phosphatase and tensin homolog (PTEN).
26484545mutationClear Cell Renal Cell CarcinomaCombined analysis of three recent large-scale clear cell renal cell carcinoma (CCRCC) mutation sequencing projects identified a significantly increased mutation frequency of PBRM1 and the X chromosome encoded KDM5C in tumors from male patients and BAP1 in tumors from female patients.
26300218mutationClear Cell Renal Cell CarcinomaIn clear cell renal cell carcinoma BAP1 and PBRM1 are 2 of the most commonly mutated genes (10% to 15% and 40% to 50%, respectively).
26166446mutation (loss of function)Clear Cell Renal Cell CarcinomaThese mutations cause loss of function of several genes located in close proximity to VHL and include PBRM1, BAP1 and SETD2.
26003625mutationClear Cell Renal Cell CarcinomaA mutation in PBRM1 was recently identified in clear cell renal cell carcinoma (ccRCC).
25966424mutationCholangiocarcinomaA series of highly recurrent mutations in genes such as TP53, KRAS, SMAD4, BRAF, MLL3, ARID1A, PBRM1 and BAP1, which are known to be involved in cell cycle control, cell signalling pathways and chromatin dynamics, have led to investigations of their roles, through molecular to mouse modelling studies, in cholangiocarcinogenesis.
25911086mutation (loss of function)Renal Cell CarcinomaWe show for the first time that an inherited mutation in PBRM1 predisposes to RCC.
25873528mutationClear Cell Renal Cell CarcinomaPBRM1 was found to be mutated in about 40% of ccRCC tumors, whereas BAP1 and SETD2 were each mutated in about 10-15% of ccRCC tumors.
25583177copy number change; aberrant methylation; mutationClear Cell Renal Cell CarcinomaWe also determined chromosome copy-number aberrations, methylation status, and gene mutations in von Hippel-Lindau and PBRM1.
25465300loss of expression (mutation)Renal Cell CarcinomaConsistent with the mutation rate, loss of PBRM1 and BAP1 staining occurred in 43% (80/187) and 10% (18/187) of ccRCC cases, respectively. However, loss of PBRM1 staining occurred in only 3% (2/59), 6% (1/17), and 0% (0/34) of pRCC, chRCC, and RO tumors, respectively (P<0.0001).
25365943mutationClear Cell Renal Cell CarcinomaIn the past decade, our understanding of the genetic mutations associated with sporadic forms of RCC has increased considerably, with the most common mutations in clear cell RCC seen in the VHL, PBRM1, BAP1, and SETD2 genes.
24974848mutationThymic CarcinomaNotably, we identified recurrent mutations of known cancer genes, including TP53, CYLD, CDKN2A, BAP1 and PBRM1, in thymic carcinomas.
24166983mutationClear Cell Renal Cell CarcinomaBAP1 (11%), PBRM1 (33%), SETD2 (16%), JARID1c (4%), and KDM6A (3%) mutations were identified.
23832661mutationClear Cell Renal Cell CarcinomaThe four most commonly mutated genes in RCC of clear-cell type (the most common type) are two-hit tumor suppressor genes, and they cluster in a 43-Mb region on chromosome 3p that is deleted in approximately 90% of tumors: VHL (mutated in 80%), PBRM1 (50%), BAP1 (15%), and SETD2 (15%).
23644518mutation (loss of function)Clear Cell Renal Cell CarcinomaRecent sequencing studies of clear cell (conventional) renal cell carcinoma (ccRCC) have identified inactivating point mutations in the chromatin-modifying genes PBRM1, KDM6A/UTX, KDM5C/JARID1C, SETD2, MLL2 and BAP1.
23636849mutationCastration-Resistant Prostate CarcinomaSixty-two somatic variants altered proteins in tumors, including cancer-associated genes, TMPRSS2-ERG, PBRM1, and TET2.
23620406mutationClear Cell Renal Cell Carcinoma3p21 tumor suppressors are frequently mutated in both the MSKCC (PBRM1, 30.3%; SETD2, 7.4%; BAP1, 6.4%) and the TCGA (PBRM1, 33.5%; SETD2, 11.6%; BAP1, 9.7%) cohorts.
23416164mutationClear Cell Renal Cell CarcinomaRecently, exome sequencing studies have revealed that the SWI/SNF (switch/sucrose nonfermentable) members PBRM1 and ARID1A are mutated in ccRCC, and it has also been suggested that aberrant chromatin regulation is a key step in kidney cancer pathogenesis.
23036577mutationClear Cell Renal Cell CarcinomaRecent sequencing efforts have identified several novel frequent mutations of histone modifying and chromatin remodeling genes in ccRCC including PBRM1, SETD2, BAP1, and KDM5C.
22461374mutation (loss of function)Clear Cell Renal Cell CarcinomaWe identified inactivating mutations in VHL, PBRM1, and BAP1. Sequencing of PBRM1 in ccRCC-derived cell lines confirmed its frequent inactivation in ccRCC.
22156295mutationPancreatic CarcinomaWe observed a much higher rate of indel mutations in the affected cases and identified recurrent truncating indels in several cancer genes such as VHL, PBRM1, and JARID1C.
15735765mutationBreast CarcinomaBAF180 can be mutated and has tumor suppressing properties in breast cancer.
25496315loss of expression (mutation)Rhabdoid Tumor of the KidneyComplete loss of SMARCB1, SMARCA2 and PBRM1 expression and corresponding mutations in the same genes were observed in all cases.
25636086mutationLiver and Intrahepatic Bile Duct CarcinomaThe 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.
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.
27664394mutationRenal Cell CarcinomaIn the future, prognosis and treatment of patients with mRCC might be based on genomic classification, especially of the 4 most commonly mutated genes in RCC (VHL, PBRM1, BAP1, and SETD2).
27751729mutationMetastatic Renal Cell CancerPrevalent mutations (≥ 10%) were VHL (75%), PBRM1 (46%), SETD2 (30%), BAP1 (19%), KDM5C (15%), and PTEN (12%).
28618948MutationClear Cell Renal Cell CarcinomaWhile in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p=0.001).
28419186MutationBlastic Plasmacytoid Dendritic Cell NeoplasmWe report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. PBRM1 mutation seems to be a driver event in this case.
28394406Mutation; Loss of ExpressionCholangiocarcinomaThe aim of this study was to determine the timing of PBRM1 mutations in biliary carcinogenesis. We found that PBRM1 loss occurred in approximately 26% of invasive cancers, but PBRM1 expression was retained in all biliary intra-epithelial neoplasia (BilIN) specimens, including 25 intrahepatic BilINs and 19 gallbladder BilINs.
28092369MutationClear Cell Renal Cell CarcinomaWe report here that BAF180 is mutated in H1H2 ccRCC cell lines and tumors, and BAF180 re-expression in H1H2 ccRCC cell lines reduced cell proliferation/survival, indicating that BAF180 has tumor-suppressive role in these cells.
27890923MutationRenal Cell CarcinomaIn addition, the advent of next-generation sequencing has led to the identification of several novel genes that are mutated in renal cancer, such as PBRM1, BAP1 and SETD2, which are all involved in histone modification and nucleosome and chromatin remodelling.
27751729MutationClear Cell Renal Cell CarcinomaPBRM1, BAP1, and KDM5C mutations impact outcomes of targeted therapies in metastatic ccRCC patients.
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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
Q86U8639SPhosphoserine-NoNone detected
Q86U86131SPhosphoserine-NoNone detected
Q86U86134YPhosphotyrosine-Yesp.Y134fs (cancer: KIRC)
Q86U86178SPhosphoserine-NoNone detected
Q86U86316SPhosphoserine-NoNone detected
Q86U86319SPhosphoserine-NoNone detected
Q86U86353SPhosphoserine-NoNone detected
Q86U86355SPhosphoserine-NoNone detected
Q86U86371SPhosphoserine-Yesp.S371* (cancer: KIRC)
Q86U86375SPhosphoserine-NoNone detected
Q86U86414KN6-acetyllysine-NoNone detected
Q86U86498SPhosphoserine-Yesp.S498fs (cancer: KIRP)
Q86U86509SPhosphoserine-NoNone detected
Q86U86636SPhosphoserine-NoNone detected
Q86U86648SPhosphoserine-NoNone detected
Q86U86689SPhosphoserine-NoNone detected
Q86U86948SPhosphoserine-NoNone detected
Q86U86987SPhosphoserine-NoNone detected
Q86U861119SPhosphoserine-NoNone detected
Q86U861289YPhosphotyrosine-NoNone detected
Q86U861405SPhosphoserine-NoNone detected
Q86U861453SPhosphoserine-NoNone detected
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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 carcinoma194086.2545.895-0.4020.0174NS
BRCABreast invasive carcinoma11211006.6636.305-0.3745.64e-09NS
CESCCervical and endocervical cancers33066.0615.767NANANA
COADColon adenocarcinoma414595.9535.75-0.3180.00104NS
ESCAEsophageal carcinoma111856.6516.186-0.3870.0668NS
GBMGlioblastoma multiforme51665.4675.521NANANA
HNSCHead and Neck squamous cell carcinoma445226.1235.408-0.645.49e-10Under
KIRCKidney renal clear cell carcinoma725345.7035.213-0.5275.09e-12NS
KIRPKidney renal papillary cell carcinoma322915.4164.999-0.3690.00288NS
LAMLAcute Myeloid Leukemia0173NA7.628NANANA
LGGBrain Lower Grade Glioma0530NA5.877NANANA
LIHCLiver hepatocellular carcinoma503734.9514.676-0.2940.000863NS
LUADLung adenocarcinoma595176.1025.809-0.3221.34e-05NS
LUSCLung squamous cell carcinoma515016.0525.546-0.475.97e-11NS
OVOvarian serous cystadenocarcinoma0307NA5.824NANANA
PAADPancreatic adenocarcinoma41795.8945.508NANANA
PCPGPheochromocytoma and Paraganglioma31845.4885.137NANANA
PRADProstate adenocarcinoma524986.1425.995-0.1640.0333NS
READRectum adenocarcinoma101676.265.769-0.5310.0175NS
SARCSarcoma22635.2545.793NANANA
SKCMSkin Cutaneous Melanoma14725.9056.177NANANA
STADStomach adenocarcinoma354156.2436.328-0.0920.434NS
TGCTTesticular Germ Cell Tumors0156NA5.9NANANA
THCAThyroid carcinoma595096.2796.036-0.2240.000336NS
THYMThymoma21206.7126.117NANANA
UCECUterine Corpus Endometrial Carcinoma355466.125.638-0.5394.05e-06NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 9.2
Autonomic ganglia CHP212 7.8
Autonomic ganglia IMR32 8.7
Autonomic ganglia KELLY 8.8
Autonomic ganglia KPNRTBM1 9.1
Autonomic ganglia KPNSI9S 7.3
Autonomic ganglia KPNYN 8.7
Autonomic ganglia MHHNB11 7
Autonomic ganglia NB1 8.7
Autonomic ganglia NH6 8.1
Autonomic ganglia SHSY5Y 8.4
Autonomic ganglia SIMA 8.9
Autonomic ganglia SKNAS 6.7
Autonomic ganglia SKNBE2 7.6
Autonomic ganglia SKNDZ 8.1
Autonomic ganglia SKNFI 8.4
Autonomic ganglia SKNSH 7.6
Biliary tract HUCCT1 7.4
Biliary tract HUH28 7.5
Biliary tract SNU1079 5.6
Biliary tract SNU1196 8
Biliary tract SNU245 7.1
Biliary tract SNU308 7.3
Biliary tract SNU478 7.4
Bone 143B 7.5
Bone A673 7.7
Bone CADOES1 8.3
Bone CAL78 7.7
Bone G292CLONEA141B1 7.7
Bone HOS 7.6
Bone HS706T 7.5
Bone HS737T 7.4
Bone HS819T 7.4
Bone HS821T 8.1
Bone HS822T 7.3
Bone HS863T 8.2
Bone HS870T 7.5
Bone HS888T 8.4
Bone MG63 7
Bone MHHES1 7.1
Bone OUMS27 7.2
Bone RDES 7.9
Bone SJSA1 7.5
Bone SKES1 8.6
Bone SKNMC 8.2
Bone SW1353 7.4
Bone T173 7.3
Bone TC71 7
Bone U2OS 8
Breast AU565 6.3
Breast BT20 7.4
Breast BT474 7.7
Breast BT483 8
Breast BT549 7.8
Breast CAL120 7.5
Breast CAL148 9
Breast CAL51 8.7
Breast CAL851 7
Breast CAMA1 7.2
Breast DU4475 7.9
Breast EFM192A 7.1
Breast EFM19 7.3
Breast EVSAT 7.7
Breast HCC1143 5.8
Breast HCC1187 8
Breast HCC1395 7.5
Breast HCC1419 8.1
Breast HCC1428 7.3
Breast HCC1500 7.2
Breast HCC1569 7.2
Breast HCC1599 8.2
Breast HCC1806 6.5
Breast HCC1937 7.4
Breast HCC1954 7.5
Breast HCC202 7
Breast HCC2157 7
Breast HCC2218 6.8
Breast HCC38 7.1
Breast HCC70 7.4
Breast HDQP1 7.1
Breast HMC18 7.2
Breast HS274T 8.2
Breast HS281T 8.2
Breast HS343T 7.9
Breast HS578T 7.6
Breast HS606T 7.6
Breast HS739T 7.4
Breast HS742T 7.3
Breast JIMT1 7.5
Breast KPL1 6.7
Breast MCF7 6.6
Breast MDAMB134VI 7.4
Breast MDAMB157 7.1
Breast MDAMB175VII 7.2
Breast MDAMB231 8
Breast MDAMB361 7.4
Breast MDAMB415 6.5
Breast MDAMB436 6.9
Breast MDAMB453 8
Breast MDAMB468 7
Breast SKBR3 6.1
Breast T47D 6.9
Breast UACC812 7.6
Breast UACC893 7.1
Breast YMB1 7.1
Breast ZR751 7.1
Breast ZR7530 7.8
Central nervous system 1321N1 7.6
Central nervous system 42MGBA 8.2
Central nervous system 8MGBA 7.6
Central nervous system A172 7.5
Central nervous system AM38 7.3
Central nervous system BECKER 7.4
Central nervous system CAS1 7.6
Central nervous system CCFSTTG1 7
Central nervous system D283MED 8.8
Central nervous system D341MED 7.8
Central nervous system DAOY 7.8
Central nervous system DBTRG05MG 7.1
Central nervous system DKMG 8.1
Central nervous system GAMG 7.9
Central nervous system GB1 9.1
Central nervous system GI1 7.7
Central nervous system GMS10 8.1
Central nervous system GOS3 7.6
Central nervous system H4 6.8
Central nervous system HS683 7.5
Central nervous system KALS1 7.6
Central nervous system KG1C 6.2
Central nervous system KNS42 7.1
Central nervous system KNS60 7.3
Central nervous system KNS81 7.1
Central nervous system KS1 7.6
Central nervous system LN18 8
Central nervous system LN229 7.4
Central nervous system M059K 7.4
Central nervous system MOGGCCM 7.4
Central nervous system MOGGUVW 7.1
Central nervous system NMCG1 8.1
Central nervous system ONS76 7
Central nervous system SF126 7.4
Central nervous system SF295 7
Central nervous system SNB19 7.7
Central nervous system SNU1105 8.1
Central nervous system SNU201 7.4
Central nervous system SNU466 7.7
Central nervous system SNU489 7.6
Central nervous system SNU626 7.2
Central nervous system SNU738 7.4
Central nervous system SW1088 7.2
Central nervous system SW1783 7.4
Central nervous system T98G 7.5
Central nervous system TM31 8.4
Central nervous system U118MG 8.4
Central nervous system U138MG 8
Central nervous system U251MG 7.1
Central nervous system U87MG 7.2
Central nervous system YH13 7.9
Central nervous system YKG1 8.1
Endometrium AN3CA 7.7
Endometrium COLO684 8.1
Endometrium EFE184 6.6
Endometrium EN 6.5
Endometrium ESS1 6.8
Endometrium HEC108 7.3
Endometrium HEC151 7.1
Endometrium HEC1A 7.7
Endometrium HEC1B 7
Endometrium HEC251 7
Endometrium HEC265 7.4
Endometrium HEC50B 6.9
Endometrium HEC59 7.6
Endometrium HEC6 7.2
Endometrium ISHIKAWAHERAKLIO02ER 8.3
Endometrium JHUEM1 7.9
Endometrium JHUEM2 8.1
Endometrium JHUEM3 7.6
Endometrium KLE 6.2
Endometrium MFE280 7.1
Endometrium MFE296 7.3
Endometrium MFE319 6.6
Endometrium RL952 7
Endometrium SNGM 7.1
Endometrium SNU1077 6.7
Endometrium SNU685 7.1
Endometrium TEN 7.7
Haematopoietic and lymphoid 697 9.2
Haematopoietic and lymphoid A3KAW 7.8
Haematopoietic and lymphoid A4FUK 7.8
Haematopoietic and lymphoid ALLSIL 9.4
Haematopoietic and lymphoid AML193 7.3
Haematopoietic and lymphoid AMO1 8.5
Haematopoietic and lymphoid BCP1 8.1
Haematopoietic and lymphoid BDCM 7.6
Haematopoietic and lymphoid BL41 8.5
Haematopoietic and lymphoid BL70 8.5
Haematopoietic and lymphoid BV173 8
Haematopoietic and lymphoid CA46 7.7
Haematopoietic and lymphoid CI1 8
Haematopoietic and lymphoid CMK115 8.4
Haematopoietic and lymphoid CMK86 8.8
Haematopoietic and lymphoid CMK 8.2
Haematopoietic and lymphoid CMLT1 9.1
Haematopoietic and lymphoid COLO775 7.9
Haematopoietic and lymphoid DAUDI 8.2
Haematopoietic and lymphoid DB 7.7
Haematopoietic and lymphoid DEL 7.8
Haematopoietic and lymphoid DND41 8.8
Haematopoietic and lymphoid DOHH2 8.7
Haematopoietic and lymphoid EB1 7.7
Haematopoietic and lymphoid EB2 8
Haematopoietic and lymphoid EHEB 7.8
Haematopoietic and lymphoid EJM 8.4
Haematopoietic and lymphoid EM2 8.7
Haematopoietic and lymphoid EOL1 8.8
Haematopoietic and lymphoid F36P 7.8
Haematopoietic and lymphoid GA10 8.4
Haematopoietic and lymphoid GDM1 8.4
Haematopoietic and lymphoid GRANTA519 7.7
Haematopoietic and lymphoid HDLM2 8.8
Haematopoietic and lymphoid HDMYZ 7.7
Haematopoietic and lymphoid HEL9217 7.9
Haematopoietic and lymphoid HEL 8.2
Haematopoietic and lymphoid HH 8.6
Haematopoietic and lymphoid HL60 7.9
Haematopoietic and lymphoid HPBALL 7.8
Haematopoietic and lymphoid HS604T 7.6
Haematopoietic and lymphoid HS611T 7.7
Haematopoietic and lymphoid HS616T 7.3
Haematopoietic and lymphoid HS751T 8.1
Haematopoietic and lymphoid HT 8.3
Haematopoietic and lymphoid HTK 7.4
Haematopoietic and lymphoid HUNS1 7.9
Haematopoietic and lymphoid HUT102 7.8
Haematopoietic and lymphoid HUT78 8.2
Haematopoietic and lymphoid JEKO1 8.4
Haematopoietic and lymphoid JK1 8
Haematopoietic and lymphoid JM1 8.7
Haematopoietic and lymphoid JURKAT 9.1
Haematopoietic and lymphoid JURLMK1 8.4
Haematopoietic and lymphoid JVM2 7.7
Haematopoietic and lymphoid JVM3 8.4
Haematopoietic and lymphoid K562 6.9
Haematopoietic and lymphoid KARPAS299 7.6
Haematopoietic and lymphoid KARPAS422 8.1
Haematopoietic and lymphoid KARPAS620 8.5
Haematopoietic and lymphoid KASUMI1 8.4
Haematopoietic and lymphoid KASUMI2 9
Haematopoietic and lymphoid KASUMI6 8.2
Haematopoietic and lymphoid KCL22 8.4
Haematopoietic and lymphoid KE37 9.3
Haematopoietic and lymphoid KE97 7.6
Haematopoietic and lymphoid KG1 8
Haematopoietic and lymphoid KHM1B 7.9
Haematopoietic and lymphoid KIJK 7.8
Haematopoietic and lymphoid KMH2 8.4
Haematopoietic and lymphoid KMM1 7.9
Haematopoietic and lymphoid KMS11 7.2
Haematopoietic and lymphoid KMS12BM 8.3
Haematopoietic and lymphoid KMS18 8.1
Haematopoietic and lymphoid KMS20 8.2
Haematopoietic and lymphoid KMS21BM 8
Haematopoietic and lymphoid KMS26 7.6
Haematopoietic and lymphoid KMS27 7.7
Haematopoietic and lymphoid KMS28BM 7.2
Haematopoietic and lymphoid KMS34 8
Haematopoietic and lymphoid KO52 8.1
Haematopoietic and lymphoid KOPN8 8.4
Haematopoietic and lymphoid KU812 8.3
Haematopoietic and lymphoid KYO1 7.8
Haematopoietic and lymphoid L1236 7.5
Haematopoietic and lymphoid L363 9.1
Haematopoietic and lymphoid L428 8.3
Haematopoietic and lymphoid L540 8.2
Haematopoietic and lymphoid LAMA84 8.6
Haematopoietic and lymphoid LOUCY 8.4
Haematopoietic and lymphoid LP1 8
Haematopoietic and lymphoid M07E 8.8
Haematopoietic and lymphoid MC116 8.3
Haematopoietic and lymphoid ME1 7.7
Haematopoietic and lymphoid MEC1 8.6
Haematopoietic and lymphoid MEC2 8.5
Haematopoietic and lymphoid MEG01 7.5
Haematopoietic and lymphoid MHHCALL2 9.4
Haematopoietic and lymphoid MHHCALL3 9.1
Haematopoietic and lymphoid MHHCALL4 9.2
Haematopoietic and lymphoid MINO 8.6
Haematopoietic and lymphoid MJ 8.3
Haematopoietic and lymphoid MM1S 8.2
Haematopoietic and lymphoid MOLM13 8
Haematopoietic and lymphoid MOLM16 8.3
Haematopoietic and lymphoid MOLM6 7.9
Haematopoietic and lymphoid MOLP2 7.5
Haematopoietic and lymphoid MOLP8 8.6
Haematopoietic and lymphoid MOLT13 9.4
Haematopoietic and lymphoid MOLT16 9
Haematopoietic and lymphoid MOLT4 8.8
Haematopoietic and lymphoid MONOMAC1 8.1
Haematopoietic and lymphoid MONOMAC6 8.6
Haematopoietic and lymphoid MOTN1 8.2
Haematopoietic and lymphoid MUTZ5 8.8
Haematopoietic and lymphoid MV411 8.1
Haematopoietic and lymphoid NALM19 8.8
Haematopoietic and lymphoid NALM1 9.1
Haematopoietic and lymphoid NALM6 9
Haematopoietic and lymphoid NAMALWA 7.3
Haematopoietic and lymphoid NB4 8.2
Haematopoietic and lymphoid NCIH929 7.4
Haematopoietic and lymphoid NCO2 7.9
Haematopoietic and lymphoid NOMO1 7.9
Haematopoietic and lymphoid NUDHL1 7
Haematopoietic and lymphoid NUDUL1 8.9
Haematopoietic and lymphoid OCIAML2 8.6
Haematopoietic and lymphoid OCIAML3 8.1
Haematopoietic and lymphoid OCIAML5 8.4
Haematopoietic and lymphoid OCILY10 7.8
Haematopoietic and lymphoid OCILY19 8.6
Haematopoietic and lymphoid OCILY3 8.3
Haematopoietic and lymphoid OCIM1 9
Haematopoietic and lymphoid OPM2 8.5
Haematopoietic and lymphoid P12ICHIKAWA 9.3
Haematopoietic and lymphoid P31FUJ 7.5
Haematopoietic and lymphoid P3HR1 7.9
Haematopoietic and lymphoid PCM6 7.8
Haematopoietic and lymphoid PEER 8.3
Haematopoietic and lymphoid PF382 9.5
Haematopoietic and lymphoid PFEIFFER 8.1
Haematopoietic and lymphoid PL21 9
Haematopoietic and lymphoid RAJI 7.7
Haematopoietic and lymphoid RCHACV 9.2
Haematopoietic and lymphoid REC1 8.2
Haematopoietic and lymphoid REH 7.7
Haematopoietic and lymphoid RI1 8
Haematopoietic and lymphoid RL 6.9
Haematopoietic and lymphoid RPMI8226 7.8
Haematopoietic and lymphoid RPMI8402 9.4
Haematopoietic and lymphoid RS411 8.4
Haematopoietic and lymphoid SEM 8.9
Haematopoietic and lymphoid SET2 8.2
Haematopoietic and lymphoid SIGM5 8.9
Haematopoietic and lymphoid SKM1 7.5
Haematopoietic and lymphoid SKMM2 8.2
Haematopoietic and lymphoid SR786 7.9
Haematopoietic and lymphoid ST486 7.3
Haematopoietic and lymphoid SUDHL10 7.6
Haematopoietic and lymphoid SUDHL1 7.7
Haematopoietic and lymphoid SUDHL4 8
Haematopoietic and lymphoid SUDHL5 8.9
Haematopoietic and lymphoid SUDHL6 8.6
Haematopoietic and lymphoid SUDHL8 8.5
Haematopoietic and lymphoid SUPB15 8.4
Haematopoietic and lymphoid SUPHD1 7.9
Haematopoietic and lymphoid SUPM2 8.2
Haematopoietic and lymphoid SUPT11 8.9
Haematopoietic and lymphoid SUPT1 8.3
Haematopoietic and lymphoid TALL1 9
Haematopoietic and lymphoid TF1 8
Haematopoietic and lymphoid THP1 7.4
Haematopoietic and lymphoid TO175T 7.6
Haematopoietic and lymphoid TOLEDO 8.2
Haematopoietic and lymphoid U266B1 7.9
Haematopoietic and lymphoid U937 7.4
Haematopoietic and lymphoid UT7 7.6
Haematopoietic and lymphoid WSUDLCL2 8.1
Kidney 769P 6.5
Kidney 786O 6.8
Kidney A498 6
Kidney A704 5.7
Kidney ACHN 6.4
Kidney BFTC909 7.5
Kidney CAKI1 6.4
Kidney CAKI2 5.7
Kidney CAL54 7.5
Kidney KMRC1 5.5
Kidney KMRC20 6.4
Kidney KMRC2 5.3
Kidney KMRC3 5.5
Kidney OSRC2 6.9
Kidney RCC10RGB 6.1
Kidney SNU1272 5.4
Kidney SNU349 5.6
Kidney TUHR10TKB 6.6
Kidney TUHR14TKB 6.3
Kidney TUHR4TKB 5.6
Kidney VMRCRCW 6.5
Kidney VMRCRCZ 6.5
Large intestine C2BBE1 7.2
Large intestine CCK81 7.2
Large intestine CL11 8
Large intestine CL14 7.5
Large intestine CL34 7.8
Large intestine CL40 7.8
Large intestine COLO205 7.1
Large intestine COLO320 7.8
Large intestine COLO678 8.1
Large intestine CW2 7.1
Large intestine DLD1 7.9
Large intestine GP2D 7.7
Large intestine HCC56 7.2
Large intestine HCT116 7.5
Large intestine HCT15 8
Large intestine HS675T 7.1
Large intestine HS698T 8
Large intestine HT115 5.7
Large intestine HT29 7.3
Large intestine HT55 7.8
Large intestine KM12 7.1
Large intestine LOVO 7.7
Large intestine LS1034 7.6
Large intestine LS123 7.5
Large intestine LS180 7.5
Large intestine LS411N 8.1
Large intestine LS513 8
Large intestine MDST8 7.8
Large intestine NCIH508 6.8
Large intestine NCIH716 7.4
Large intestine NCIH747 6.6
Large intestine OUMS23 6
Large intestine RCM1 6.9
Large intestine RKO 6.8
Large intestine SKCO1 8.1
Large intestine SNU1040 7.6
Large intestine SNU1197 6.5
Large intestine SNU175 7.4
Large intestine SNU283 7.6
Large intestine SNU407 7.1
Large intestine SNU503 6.9
Large intestine SNU61 7.3
Large intestine SNU81 8.8
Large intestine SNUC1 7.2
Large intestine SNUC2A 6.6
Large intestine SNUC4 7.9
Large intestine SNUC5 7.8
Large intestine SW1116 6.5
Large intestine SW1417 6.9
Large intestine SW1463 7.4
Large intestine SW403 7.2
Large intestine SW480 7.3
Large intestine SW48 7.2
Large intestine SW620 7.9
Large intestine SW837 7.2
Large intestine SW948 7.4
Large intestine T84 7.4
Liver ALEXANDERCELLS 7.4
Liver C3A 6.7
Liver HEP3B217 7.8
Liver HEPG2 7
Liver HLE 8.1
Liver HLF 7.6
Liver HUH1 7.4
Liver HUH6 8.1
Liver HUH7 7.4
Liver JHH1 6.6
Liver JHH2 6.7
Liver JHH4 7.1
Liver JHH5 7.3
Liver JHH6 8
Liver JHH7 7
Liver LI7 7.5
Liver PLCPRF5 7.1
Liver SKHEP1 7.7
Liver SNU182 7.1
Liver SNU387 7.1
Liver SNU398 7.8
Liver SNU423 7.6
Liver SNU449 7
Liver SNU475 7.3
Liver SNU761 7
Liver SNU878 8.1
Liver SNU886 8.4
Lung A549 6.7
Lung ABC1 5.5
Lung BEN 6.8
Lung CAL12T 6.9
Lung CALU1 7.1
Lung CALU3 7.8
Lung CALU6 7.4
Lung CHAGOK1 7.1
Lung COLO668 8.6
Lung COLO699 8.1
Lung CORL105 6.6
Lung CORL23 6.7
Lung CORL24 8.2
Lung CORL279 7.9
Lung CORL311 8.1
Lung CORL47 7.7
Lung CORL51 7.9
Lung CORL88 8.3
Lung CORL95 7.7
Lung CPCN 7.4
Lung DMS114 7.6
Lung DMS153 7.4
Lung DMS273 7.2
Lung DMS454 6.7
Lung DMS53 6.2
Lung DMS79 8.6
Lung DV90 6.8
Lung EBC1 7.5
Lung EPLC272H 6.2
Lung HARA 7
Lung HCC1171 7.3
Lung HCC1195 6.6
Lung HCC15 6.8
Lung HCC2279 6.8
Lung HCC2935 6.8
Lung HCC33 8.5
Lung HCC366 7.7
Lung HCC4006 7.2
Lung HCC44 7.2
Lung HCC78 7.1
Lung HCC827 7.4
Lung HCC95 6.8
Lung HLC1 7.6
Lung HLFA 7.5
Lung HS229T 8.1
Lung HS618T 7.4
Lung IALM 7.4
Lung KNS62 7
Lung LC1F 6.9
Lung LC1SQSF 6.8
Lung LCLC103H 7.5
Lung LCLC97TM1 7.9
Lung LK2 7.5
Lung LOUNH91 6.6
Lung LU65 7.3
Lung LU99 7.4
Lung LUDLU1 6.9
Lung LXF289 7.5
Lung MORCPR 5.7
Lung NCIH1048 8.8
Lung NCIH1092 8.9
Lung NCIH1105 9.3
Lung NCIH1155 9
Lung NCIH1184 8.6
Lung NCIH1299 7.4
Lung NCIH1339 7.7
Lung NCIH1341 7.6
Lung NCIH1355 7.3
Lung NCIH1373 6.7
Lung NCIH1385 7
Lung NCIH1395 6.3
Lung NCIH1435 7.3
Lung NCIH1436 8.2
Lung NCIH1437 6.8
Lung NCIH146 8.1
Lung NCIH1563 7.4
Lung NCIH1568 7.3
Lung NCIH1573 6.4
Lung NCIH1581 7.6
Lung NCIH1618 8.5
Lung NCIH1623 7.7
Lung NCIH1648 6.6
Lung NCIH1650 7.6
Lung NCIH1651 6.7
Lung NCIH1666 6.6
Lung NCIH1693 6.9
Lung NCIH1694 7.4
Lung NCIH1703 7.5
Lung NCIH1734 7.3
Lung NCIH1755 6.8
Lung NCIH1781 7.6
Lung NCIH1792 6.9
Lung NCIH1793 7
Lung NCIH1836 8.1
Lung NCIH1838 7.2
Lung NCIH1869 8.4
Lung NCIH1876 8.9
Lung NCIH1915 7.3
Lung NCIH1930 7.8
Lung NCIH1944 7.4
Lung NCIH1963 8
Lung NCIH196 7.9
Lung NCIH1975 7.1
Lung NCIH2009 7.6
Lung NCIH2023 7
Lung NCIH2029 7.6
Lung NCIH2030 7.4
Lung NCIH2066 6.6
Lung NCIH2081 8.3
Lung NCIH2085 7.2
Lung NCIH2087 6.7
Lung NCIH209 7.8
Lung NCIH2106 8.1
Lung NCIH2110 7.4
Lung NCIH211 7.7
Lung NCIH2122 7.2
Lung NCIH2126 6.9
Lung NCIH2141 9
Lung NCIH2170 7.7
Lung NCIH2171 7.8
Lung NCIH2172 7.1
Lung NCIH2196 5.6
Lung NCIH2227 7.6
Lung NCIH2228 6.6
Lung NCIH226 5.5
Lung NCIH2286 7.1
Lung NCIH2291 6.8
Lung NCIH2342 7
Lung NCIH2347 7.4
Lung NCIH23 7.3
Lung NCIH2405 7
Lung NCIH2444 5.6
Lung NCIH292 7.8
Lung NCIH322 7.4
Lung NCIH3255 7.3
Lung NCIH358 7.6
Lung NCIH441 7.1
Lung NCIH446 7.4
Lung NCIH460 7.1
Lung NCIH510 7.8
Lung NCIH520 7.1
Lung NCIH522 7.9
Lung NCIH524 8.1
Lung NCIH526 8.7
Lung NCIH596 7.2
Lung NCIH647 6.7
Lung NCIH650 7.8
Lung NCIH661 7.2
Lung NCIH69 7.5
Lung NCIH727 8
Lung NCIH810 7
Lung NCIH82 8.2
Lung NCIH838 7.7
Lung NCIH841 7.6
Lung NCIH854 7.3
Lung NCIH889 8.1
Lung PC14 7.1
Lung RERFLCAD1 7
Lung RERFLCAD2 6.8
Lung RERFLCAI 8
Lung RERFLCKJ 6.9
Lung RERFLCMS 7.2
Lung RERFLCSQ1 7.1
Lung SBC5 7.1
Lung SCLC21H 7.8
Lung SHP77 8.3
Lung SKLU1 7.2
Lung SKMES1 6.4
Lung SQ1 7.3
Lung SW1271 7.4
Lung SW1573 7.8
Lung SW900 6.9
Lung VMRCLCD 7
Lung VMRCLCP 7.2
Oesophagus COLO680N 6.9
Oesophagus ECGI10 6.6
Oesophagus KYSE140 7.6
Oesophagus KYSE150 7.5
Oesophagus KYSE180 7.1
Oesophagus KYSE270 6.7
Oesophagus KYSE30 6.7
Oesophagus KYSE410 7.6
Oesophagus KYSE450 6.9
Oesophagus KYSE510 7.4
Oesophagus KYSE520 6.5
Oesophagus KYSE70 7.7
Oesophagus OE19 7.1
Oesophagus OE33 7.3
Oesophagus TE10 7.1
Oesophagus TE11 6.9
Oesophagus TE14 7.4
Oesophagus TE15 7.1
Oesophagus TE1 7.1
Oesophagus TE4 7.9
Oesophagus TE5 6.8
Oesophagus TE6 7.1
Oesophagus TE8 7.4
Oesophagus TE9 7
Oesophagus TT 6.7
Ovary 59M 7.2
Ovary A2780 7.9
Ovary CAOV3 6.5
Ovary CAOV4 7
Ovary COLO704 8.4
Ovary COV318 6.4
Ovary COV362 6.7
Ovary COV434 7.5
Ovary COV504 6.7
Ovary COV644 7.5
Ovary EFO21 5.8
Ovary EFO27 7
Ovary ES2 7.4
Ovary FUOV1 8.5
Ovary HEYA8 7.4
Ovary HS571T 7.3
Ovary IGROV1 7.3
Ovary JHOC5 7.2
Ovary JHOM1 7.7
Ovary JHOM2B 8.6
Ovary JHOS2 7
Ovary JHOS4 6.4
Ovary KURAMOCHI 7.3
Ovary MCAS 7.4
Ovary NIHOVCAR3 7.6
Ovary OAW28 7.3
Ovary OAW42 6.5
Ovary OC314 5.9
Ovary OC316 6
Ovary ONCODG1 7.7
Ovary OV56 6.1
Ovary OV7 7.7
Ovary OV90 6.9
Ovary OVCAR4 7.1
Ovary OVCAR8 7.8
Ovary OVISE 6.5
Ovary OVK18 7.6
Ovary OVKATE 6.3
Ovary OVMANA 7.1
Ovary OVSAHO 6.8
Ovary OVTOKO 6.6
Ovary RMGI 6.5
Ovary RMUGS 6.2
Ovary SKOV3 7.1
Ovary SNU119 7.8
Ovary SNU840 7.8
Ovary SNU8 7.5
Ovary TOV112D 7.4
Ovary TOV21G 7
Ovary TYKNU 7.1
Pancreas ASPC1 7
Pancreas BXPC3 6.9
Pancreas CAPAN1 8
Pancreas CAPAN2 7.2
Pancreas CFPAC1 6.7
Pancreas DANG 6.8
Pancreas HPAC 7.9
Pancreas HPAFII 7.3
Pancreas HS766T 7.1
Pancreas HUPT3 6.7
Pancreas HUPT4 7.2
Pancreas KCIMOH1 7.8
Pancreas KLM1 7.6
Pancreas KP2 7.4
Pancreas KP3 5.7
Pancreas KP4 7.8
Pancreas L33 6.9
Pancreas MIAPACA2 7.2
Pancreas PANC0203 6.5
Pancreas PANC0213 7.9
Pancreas PANC0327 7.5
Pancreas PANC0403 6.7
Pancreas PANC0504 7.2
Pancreas PANC0813 7.3
Pancreas PANC1005 5.3
Pancreas PANC1 7.1
Pancreas PATU8902 5.7
Pancreas PATU8988S 7.4
Pancreas PATU8988T 8.1
Pancreas PK1 6.8
Pancreas PK45H 7.5
Pancreas PK59 6.5
Pancreas PL45 5.8
Pancreas PSN1 7.7
Pancreas QGP1 7.2
Pancreas SNU213 7.6
Pancreas SNU324 7.8
Pancreas SNU410 6.5
Pancreas SU8686 6.6
Pancreas SUIT2 7.7
Pancreas SW1990 6.9
Pancreas T3M4 7.1
Pancreas TCCPAN2 6.2
Pancreas YAPC 7.5
Pleura ACCMESO1 7.4
Pleura DM3 7.6
Pleura ISTMES1 6.9
Pleura ISTMES2 6.3
Pleura JL1 7.4
Pleura MPP89 7
Pleura MSTO211H 6.8
Pleura NCIH2052 7.1
Pleura NCIH2452 6.6
Pleura NCIH28 7.5
Prostate 22RV1 8.1
Prostate DU145 7.2
Prostate LNCAPCLONEFGC 8.5
Prostate MDAPCA2B 7.3
Prostate NCIH660 8.5
Prostate PC3 7.7
Prostate VCAP 8.9
Salivary gland A253 7.3
Salivary gland YD15 7.2
Skin A101D 6.9
Skin A2058 7.3
Skin A375 7.5
Skin C32 7.4
Skin CHL1 7.6
Skin CJM 7.2
Skin COLO679 7.4
Skin COLO741 7.7
Skin COLO783 8.1
Skin COLO792 7.8
Skin COLO800 7.5
Skin COLO818 7.5
Skin COLO829 7.9
Skin COLO849 7.9
Skin G361 7.9
Skin GRM 7.1
Skin HMCB 8
Skin HS294T 7.3
Skin HS600T 7.4
Skin HS688AT 7.5
Skin HS695T 6.6
Skin HS839T 7.4
Skin HS852T 7.6
Skin HS895T 7.1
Skin HS934T 8.2
Skin HS936T 6.9
Skin HS939T 7.2
Skin HS940T 7.3
Skin HS944T 7.7
Skin HT144 7.5
Skin IGR1 8.4
Skin IGR37 8.9
Skin IGR39 7.5
Skin IPC298 7.5
Skin K029AX 7.6
Skin LOXIMVI 7.1
Skin MALME3M 7.7
Skin MDAMB435S 7.4
Skin MELHO 8.3
Skin MELJUSO 7.5
Skin MEWO 8.4
Skin RPMI7951 8.2
Skin RVH421 7.1
Skin SH4 7.4
Skin SKMEL1 6.9
Skin SKMEL24 6.7
Skin SKMEL28 8.1
Skin SKMEL2 7.7
Skin SKMEL30 7.8
Skin SKMEL31 7.2
Skin SKMEL3 8.1
Skin SKMEL5 7.4
Skin UACC257 7.3
Skin UACC62 6.8
Skin WM115 7.5
Skin WM1799 8.2
Skin WM2664 7.7
Skin WM793 7.6
Skin WM88 7.4
Skin WM983B 7.6
Small intestine HUTU80 7.7
Soft tissue A204 7.5
Soft tissue G401 7.6
Soft tissue G402 7.6
Soft tissue GCT 7.6
Soft tissue HS729 7.5
Soft tissue HT1080 7.4
Soft tissue KYM1 8
Soft tissue MESSA 6.8
Soft tissue RD 8.2
Soft tissue RH30 8
Soft tissue RH41 8
Soft tissue RKN 7.4
Soft tissue S117 7.7
Soft tissue SJRH30 8.1
Soft tissue SKLMS1 7.4
Soft tissue SKUT1 7.7
Soft tissue TE125T 7.7
Soft tissue TE159T 7.3
Soft tissue TE441T 8.4
Soft tissue TE617T 7.3
Stomach 2313287 7.8
Stomach AGS 8.1
Stomach AZ521 8.1
Stomach ECC10 8.9
Stomach ECC12 8.2
Stomach FU97 7.1
Stomach GCIY 6.8
Stomach GSS 8.4
Stomach GSU 7.4
Stomach HGC27 7.1
Stomach HS746T 7.1
Stomach HUG1N 7.6
Stomach IM95 7.2
Stomach KATOIII 7.4
Stomach KE39 6.9
Stomach LMSU 7.9
Stomach MKN1 7.8
Stomach MKN45 8.6
Stomach MKN74 6.7
Stomach MKN7 7.5
Stomach NCCSTCK140 8
Stomach NCIN87 6.6
Stomach NUGC2 6.5
Stomach NUGC3 6.7
Stomach NUGC4 5.9
Stomach OCUM1 7.8
Stomach RERFGC1B 7.1
Stomach SH10TC 7.4
Stomach SNU16 8
Stomach SNU1 6.9
Stomach SNU216 7.4
Stomach SNU520 7.6
Stomach SNU5 7.2
Stomach SNU601 8
Stomach SNU620 7.7
Stomach SNU668 7.2
Stomach SNU719 7.3
Stomach TGBC11TKB 7.7
Thyroid 8305C 7.6
Thyroid 8505C 8.8
Thyroid BCPAP 7.4
Thyroid BHT101 7.7
Thyroid CAL62 7.2
Thyroid CGTHW1 7.5
Thyroid FTC133 7.5
Thyroid FTC238 8.1
Thyroid ML1 6.9
Thyroid SW579 7.7
Thyroid TT2609C02 7.9
Thyroid TT 7.3
Upper aerodigestive tract BHY 6.6
Upper aerodigestive tract BICR16 6
Upper aerodigestive tract BICR18 6.6
Upper aerodigestive tract BICR22 6.4
Upper aerodigestive tract BICR31 6.8
Upper aerodigestive tract BICR56 6.5
Upper aerodigestive tract BICR6 6.9
Upper aerodigestive tract CAL27 6.4
Upper aerodigestive tract CAL33 6.6
Upper aerodigestive tract DETROIT562 7.6
Upper aerodigestive tract FADU 7.3
Upper aerodigestive tract HS840T 7.5
Upper aerodigestive tract HSC2 7
Upper aerodigestive tract HSC3 7.2
Upper aerodigestive tract HSC4 7
Upper aerodigestive tract PECAPJ15 6.8
Upper aerodigestive tract PECAPJ34CLONEC12 6.9
Upper aerodigestive tract PECAPJ41CLONED2 6.1
Upper aerodigestive tract PECAPJ49 6.6
Upper aerodigestive tract SCC15 7
Upper aerodigestive tract SCC25 6.7
Upper aerodigestive tract SCC4 6.8
Upper aerodigestive tract SCC9 7
Upper aerodigestive tract SNU1076 7
Upper aerodigestive tract SNU1214 6.8
Upper aerodigestive tract SNU46 7.1
Upper aerodigestive tract SNU899 7
Upper aerodigestive tract YD10B 6.6
Upper aerodigestive tract YD38 6.6
Upper aerodigestive tract YD8 7.3
Urinary tract 5637 7.1
Urinary tract 639V 8.5
Urinary tract 647V 8.1
Urinary tract BC3C 7
Urinary tract BFTC905 7
Urinary tract CAL29 7.3
Urinary tract HS172T 7.6
Urinary tract HT1197 7
Urinary tract HT1376 7.1
Urinary tract J82 7.5
Urinary tract JMSU1 8.2
Urinary tract KMBC2 7.4
Urinary tract KU1919 7.8
Urinary tract RT11284 7.2
Urinary tract RT112 6.8
Urinary tract RT4 7.9
Urinary tract SCABER 6.2
Urinary tract SW1710 7.2
Urinary tract SW780 6.7
Urinary tract T24 7.8
Urinary tract TCCSUP 7.7
Urinary tract UMUC1 6.9
Urinary tract UMUC3 7.5
Urinary tract VMCUB1 7.1
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 24
Adrenal gland 17.2
Appendix 29
Bone marrow 15.6
Breast 20.3
Cerebral cortex 19.3
Cervix, uterine 32.6
Colon 18.1
Duodenum 15.9
Endometrium 36.8
Epididymis 19.7
Esophagus 25.1
Fallopian tube 31.4
Gallbladder 26.8
Heart muscle 12.8
Kidney 12.1
Liver 9.4
Lung 26.4
Lymph node 26.4
Ovary 35.9
Pancreas 2.5
Parathyroid gland 27
Placenta 29.8
Prostate 29.1
Rectum 20.8
Salivary gland 5.5
Seminal vesicle 24.3
Skeletal muscle 5
Skin 20.6
Small intestine 16.1
Smooth muscle 37.1
Spleen 26.4
Stomach 15.2
Testis 26.5
Thyroid gland 44.5
Tonsil 21
Urinary bladder 24.8
> Text Mining based Expression
 
PMID Expression Cancer Evidence
26464681underexpressionBreast CarcinomaThe status of PBRM1 protein in breast cancer tissues is much lower than that in paracarcinoma tissues.
26452128loss of expressionClear Cell Renal Cell CarcinomaClear cell Renal Cell Carcinoma (ccRCC) is due to loss of von Hippel-Lindau (VHL) gene and at least one out of three chromatin regulating genes BRCA1-associated protein-1 (BAP1), Polybromo-1 (PBRM1) and Set domain-containing 2 (SETD2).
25997916overexpressionRenal Cell CarcinomaOverall 25 of 53 patients (47%) had high PBRM1 expression in the tumor.
25978027underexpressionBladder CarcinomaOur results showed that PBRM1 expression was significantly reduced in bladder cancer cells and tissues compared to their normal counterparts.
25465300loss of expression (mutation)Renal Cell CarcinomaConsistent with the mutation rate, loss of PBRM1 and BAP1 staining occurred in 43% (80/187) and 10% (18/187) of ccRCC cases, respectively. However, loss of PBRM1 staining occurred in only 3% (2/59), 6% (1/17), and 0% (0/34) of pRCC, chRCC, and RO tumors, respectively (P<0.0001).
25200863loss of expressionEpithelioid SarcomaOf the 23 ES cases, 19 (82.6%) showed a loss of PBRM1, and 18 (78.3%), a loss of INI1. In most cases (17, 73.9%), loss of INI1 and PBRM1 expression was observed.
24063284underexpressionRenal Cell CarcinomaPBRM1 acts as tumor suppressor in RCC, and its downregulation is associated with increased proliferation and aggressive behavior in RCC.
24053427overexpressionClear Cell Renal Cell CarcinomaThe protein expression of PBRM1 was associated with tumour stage (P < 0.001), clinical stage (P < 0.001), pN stage (P = 0.035) and tumour size (P = 0.002).
22949125loss of expressionClear Cell Renal Cell CarcinomaWe found that a significant number of ccRCC cancer cell lines lack detectable PBRM1 expression.
25496315loss of expression (mutation)Rhabdoid Tumor of the KidneyComplete loss of SMARCB1, SMARCA2 and PBRM1 expression and corresponding mutations in the same genes were observed in all cases.
27764136loss of expressionClear Cell Renal Cell CarcinomaWe found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.
28394406Mutation; Loss of ExpressionCholangiocarcinomaThe aim of this study was to determine the timing of PBRM1 mutations in biliary carcinogenesis. We found that PBRM1 loss occurred in approximately 26% of invasive cancers, but PBRM1 expression was retained in all biliary intra-epithelial neoplasia (BilIN) specimens, including 25 intrahepatic BilINs and 19 gallbladder BilINs.
28327121Loss of ExpressionClear Cell Renal Cell CarcinomaOf the 97 patients evaluated, 20 and 57% showed loss of BAP1 and PBRM1 in their primary tumors, respectively.
27764136Loss of ExpressionClear Cell Renal Cell CarcinomaWe found that 49/160 (31%), 81/160 (51%), 23/160 (14%), 24/160 (15%), and 61/160 (38%) of ccRCC showed loss of expression of PBRM1, ARID1A, SETD2, BRG1, and BRM, respectively, and that IHC could successfully detect a high prevalence of ITH.
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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 carcinoma4040.5263.88e-3029.546.524Neutral
BRCABreast invasive carcinoma10750.3653.74e-3531.859.98.3Neutral
CESCCervical and endocervical cancers2920.621.91e-3241.848.69.6Loss
COADColon adenocarcinoma4490.3679.54e-1616.375.78Neutral
ESCAEsophageal carcinoma1830.4872.6e-1267.224.68.2Loss
GBMGlioblastoma multiforme1470.4053.7e-078.877.613.6Neutral
HNSCHead and Neck squamous cell carcinoma5140.4121.86e-2272.425.91.8Loss
KIRCKidney renal clear cell carcinoma5250.3491.59e-1687.8111.1Loss
KIRPKidney renal papillary cell carcinoma2880.4085.37e-139.465.625Neutral
LAMLAcute Myeloid Leukemia1660.3611.75e-063.695.80.6Neutral
LGGBrain Lower Grade Glioma5130.321.11e-139.688.32.1Neutral
LIHCLiver hepatocellular carcinoma3640.4233.3e-171971.29.9Neutral
LUADLung adenocarcinoma5120.3393.02e-1545.747.56.8Loss
LUSCLung squamous cell carcinoma4980.1550.00051186.9121Loss
OVOvarian serous cystadenocarcinoma3000.6264.59e-343546.718.3Loss
PAADPancreatic adenocarcinoma1770.521.16e-1326.670.62.8Neutral
PCPGPheochromocytoma and Paraganglioma1620.5815.31e-1638.959.91.2Loss
PRADProstate adenocarcinoma4910.1280.004653.5897.5Neutral
READRectum adenocarcinoma1640.3873.06e-0715.268.915.9Neutral
SARCSarcoma2550.4972.71e-1725.156.918Neutral
SKCMSkin Cutaneous Melanoma3670.3683.26e-1319.662.418Neutral
STADStomach adenocarcinoma4130.4059.7e-1834.459.36.3Loss
TGCTTesticular Germ Cell Tumors1500.5551.64e-13206020Neutral
THCAThyroid carcinoma4970.060.1840.698.80.6Neutral
THYMThymoma1190.477.08e-0811.888.20Neutral
UCECUterine Corpus Endometrial Carcinoma5370.3313.39e-1513.275.611.2Neutral
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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-0.3712.61e-15174080.0010.207NS/NA
BRCABreast invasive carcinoma-0.3290837850.0012.04e-09NS/NA
CESCCervical and endocervical cancers-0.47603306NANANS/NA
COADColon adenocarcinoma-0.3917.09e-13192970.0040.0255NS/NA
ESCAEsophageal carcinoma-0.3632.51e-079185NANANS/NA
GBMGlioblastoma multiforme-0.3410.00572164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.3046.75e-13205220.0026.12e-05NS/NA
KIRCKidney renal clear cell carcinoma-0.219.11e-05243190.0373.04e-22NS/NA
KIRPKidney renal papillary cell carcinoma-0.4211.74e-14232750.0040.427NS/NA
LAMLAcute Myeloid Leukemia-0.0550.4760170NANANS/NA
LGGBrain Lower Grade Glioma-0.2023.07e-060530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.2187.9e-06413730.0126.36e-10NS/NA
LUADLung adenocarcinoma-0.0820.072521456-0.0030.785NS/NA
LUSCLung squamous cell carcinoma-0.0820.1138370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.80.013809NANANS/NA
PAADPancreatic adenocarcinoma-0.3887.62e-084179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.4773.74e-123184NANANS/NA
PRADProstate adenocarcinoma-0.2936.89e-12354980.0053.24e-07NS/NA
READRectum adenocarcinoma-0.2130.0329299NANANS/NA
SARCSarcoma-0.3871.15e-100263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.3256.3e-131471NANANS/NA
STADStomach adenocarcinoma-0.3421.67e-110372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.3441.26e-050156NANANS/NA
THCAThyroid carcinoma-0.120.004395050900.581NS/NA
THYMThymoma-0.2890.00132120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.1510.0011334431-0.0050.807NS/NA
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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 2 Medium
Breast 1 Low
Bronchus 2 Medium
Caudate 2 Medium
Cerebellum 1 Low
Cerebral cortex 3 High
Cervix, uterine 3 High
Colon 3 High
Duodenum 3 High
Endometrium 3 High
Epididymis 1 Low
Esophagus 1 Low
Fallopian tube 2 Medium
Gallbladder 3 High
Heart muscle 2 Medium
Hippocampus 1 Low
Kidney 1 Low
Liver 0 Not detected
Lung 2 Medium
Lymph node 2 Medium
Nasopharynx 2 Medium
Oral mucosa 1 Low
Ovary 0 Not detected
Pancreas 2 Medium
Parathyroid gland 3 High
Placenta 3 High
Prostate 0 Not detected
Rectum 2 Medium
Salivary gland 2 Medium
Seminal vesicle 1 Low
Skeletal muscle 3 High
Skin 2 Medium
Small intestine 2 Medium
Smooth muscle 2 Medium
Soft tissue 2 Medium
Spleen 0 Not detected
Stomach 3 High
Testis 3 High
Thyroid gland 2 Medium
Tonsil 1 Low
Urinary bladder 2 Medium
Vagina 1 Low
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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 carcinoma1280.514NS24476821
BRCABreast invasive carcinoma5210.000349Significant23000897
COADColon adenocarcinoma1490.578NS22810696
GBMGlioblastoma multiforme1574.64e-06Significant26824661
HNSCHead and Neck squamous cell carcinoma2791.02e-05Significant25631445
KIRPKidney renal papillary cell carcinoma1610.302NS26536169
LGGBrain Lower Grade Glioma5131.53e-06Significant26824661
LUADLung adenocarcinoma2300.0129Significant25079552
LUSCLung squamous cell carcinoma1780.00293Significant22960745
OVOvarian serous cystadenocarcinoma2871.55e-06Significant21720365
PRADProstate adenocarcinoma3333.23e-05Significant26544944
READRectum adenocarcinoma670.278NS22810696
SKCMSkin Cutaneous Melanoma3150.00186Significant26091043
STADStomach adenocarcinoma2770.255NS25079317
THCAThyroid carcinoma3910.0663NS25417114
UCECUterine Corpus Endometrial Carcinoma2320.0152Significant23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 0.8270.393NS
BRCABreast invasive carcinoma1079 0.970.895NS
CESCCervical and endocervical cancers291 1.2870.436NS
COADColon adenocarcinoma439 0.5560.0351Longer
ESCAEsophageal carcinoma184 1.1160.73NS
GBMGlioblastoma multiforme158 0.7380.241NS
HNSCHead and Neck squamous cell carcinoma518 0.6750.0498Longer
KIRCKidney renal clear cell carcinoma531 0.7030.1NS
KIRPKidney renal papillary cell carcinoma287 0.4150.0655NS
LAMLAcute Myeloid Leukemia149 0.7440.316NS
LGGBrain Lower Grade Glioma511 0.9330.785NS
LIHCLiver hepatocellular carcinoma365 1.1420.616NS
LUADLung adenocarcinoma502 0.8670.482NS
LUSCLung squamous cell carcinoma494 0.8790.504NS
OVOvarian serous cystadenocarcinoma303 0.8910.583NS
PAADPancreatic adenocarcinoma177 1.5360.128NS
PCPGPheochromocytoma and Paraganglioma179 939303425.9020.225NS
PRADProstate adenocarcinoma497 5.3340.133NS
READRectum adenocarcinoma159 0.4450.181NS
SARCSarcoma259 1.4410.22NS
SKCMSkin Cutaneous Melanoma459 1.2880.193NS
STADStomach adenocarcinoma388 0.9210.719NS
TGCTTesticular Germ Cell Tumors134 594299983.7370.317NS
THCAThyroid carcinoma500 2.6320.219NS
THYMThymoma119 00.00834Longer
UCECUterine Corpus Endometrial Carcinoma543 0.8520.616NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.0790.113NS
BRCABreast invasive carcinoma1071 -0.0160.599NS
CESCCervical and endocervical cancers167 -0.0270.725NS
COADColon adenocarcinoma445 -0.0520.273NS
ESCAEsophageal carcinoma162 -0.060.451NS
HNSCHead and Neck squamous cell carcinoma448 -0.1130.0171Lower
KIRCKidney renal clear cell carcinoma531 -0.1520.000451Lower
KIRPKidney renal papillary cell carcinoma260 -0.1410.0232Lower
LIHCLiver hepatocellular carcinoma347 0.0190.73NS
LUADLung adenocarcinoma507 -0.010.818NS
LUSCLung squamous cell carcinoma497 -0.0570.202NS
OVOvarian serous cystadenocarcinoma302 -0.1570.00621Lower
PAADPancreatic adenocarcinoma176 0.0270.719NS
READRectum adenocarcinoma156 0.0350.663NS
SKCMSkin Cutaneous Melanoma410 -0.0620.207NS
STADStomach adenocarcinoma392 0.0150.768NS
TGCTTesticular Germ Cell Tumors81 0.0530.637NS
THCAThyroid carcinoma499 -0.030.502NS
UCECUterine Corpus Endometrial Carcinoma501 -0.0540.225NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 -0.0410.499NS
HNSCHead and Neck squamous cell carcinoma498 0.0250.583NS
KIRCKidney renal clear cell carcinoma525 -0.1270.00351Lower
LGGBrain Lower Grade Glioma514 0.0530.227NS
LIHCLiver hepatocellular carcinoma366 0.1210.0205Higher
OVOvarian serous cystadenocarcinoma296 -0.0690.238NS
PAADPancreatic adenocarcinoma176 -0.0330.663NS
STADStomach adenocarcinoma406 -0.0290.561NS
UCECUterine Corpus Endometrial Carcinoma534 0.0870.0454Higher
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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 PBRM1.
Summary
SymbolPBRM1
Namepolybromo 1
Aliases BAF180; PB1; BRG1-associated factor 180; polybromo-1D; hPB1; Protein polybromo-1
Location3p21.1
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
24063284Renal Cell CarcinomaupstreammiR-590-5pnegative regulationWe confirmed that PBRM1 was a direct target of miR-590-5p. miR-590-5p could regulate PBRM1 mRNA and protein expressions in clear cell renal carcinoma (ccRCC) ACHN and 786-O cells. Downregulation of miR-590-5p, which resulted in increased PBRM1, inhibited proliferation and invasion of ccRCC cells.
27764136Clear Cell Renal Cell CarcinomapartnerARID1A; BRMpositive correlationFor instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.
28618948Clear Cell Renal Cell CarcinomapartnerBAP1Mutual exclusiveWhile in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p=0.001).
28092369Clear Cell Renal Cell CarcinomapartnerHIF-1; HIF2Co-activitorIn addition, our data show that BAF180 functions as co-activator for HIF1- and HIF2-mediated transcriptional response, and BAF180's tumor-suppressive and -promoting activity in ccRCC cell lines depends on co-expression of HIF1 and HIF2, respectively.
27764136Clear Cell Renal Cell CarcinomapartnerARID1AAssociationFor instance, ARID1A loss almost always accompanied PBRM1 loss, whereas BRM loss accompanied loss of BRG1, PBRM1 or ARID1A.