Browse BAP1 in pancancer

Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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 PF01088 Ubiquitin carboxyl-terminal hydrolase
Function

Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration (PubMed:24703950). Acts as a tumor suppressor.

Classification
Class Modification Substrate Product PubMed
Histone modification erase, Polycomb group (PcG) protein Histone deubiquitination, # H2AK119ub1 H2AK119 20436459
> Gene Ontology
 
Biological Process GO:0001558 regulation of cell growth
GO:0006626 protein targeting to mitochondrion
GO:0006839 mitochondrial transport
GO:0010821 regulation of mitochondrion organization
GO:0010822 positive regulation of mitochondrion organization
GO:0016049 cell growth
GO:0016570 histone modification
GO:0016578 histone deubiquitination
GO:0016579 protein deubiquitination
GO:0032386 regulation of intracellular transport
GO:0032388 positive regulation of intracellular transport
GO:0033157 regulation of intracellular protein transport
GO:0035520 monoubiquitinated protein deubiquitination
GO:0035521 monoubiquitinated histone deubiquitination
GO:0035522 monoubiquitinated histone H2A deubiquitination
GO:0051222 positive regulation of protein transport
GO:0070585 protein localization to mitochondrion
GO:0070646 protein modification by small protein removal
GO:0071108 protein K48-linked deubiquitination
GO:0072655 establishment of protein localization to mitochondrion
GO:0090316 positive regulation of intracellular protein transport
GO:1903214 regulation of protein targeting to mitochondrion
GO:1903533 regulation of protein targeting
GO:1903747 regulation of establishment of protein localization to mitochondrion
GO:1903749 positive regulation of establishment of protein localization to mitochondrion
GO:1903829 positive regulation of cellular protein localization
GO:1903955 positive regulation of protein targeting to mitochondrion
GO:1904951 positive regulation of establishment of protein localization
Molecular Function GO:0003682 chromatin binding
GO:0004843 thiol-dependent ubiquitin-specific protease activity
GO:0008234 cysteine-type peptidase activity
GO:0019783 ubiquitin-like protein-specific protease activity
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity
GO:0101005 ubiquitinyl hydrolase activity
Cellular Component GO:0031519 PcG protein complex
GO:0035517 PR-DUB complex
> KEGG and Reactome Pathway
 
KEGG -
Reactome R-HSA-5693606: DNA Double Strand Break Response
R-HSA-5693532: DNA Double-Strand Break Repair
R-HSA-73894: DNA Repair
R-HSA-5688426: Deubiquitination
R-HSA-392499: Metabolism of proteins
R-HSA-597592: Post-translational protein modification
R-HSA-5693565: Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5689603: UCH proteinases
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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)
 
> Catalogue of Somatic Mutations in Cancer (COSMIC)
 
COSMIC ID CDS change AA change Mutation Type Anatomical Site
COSM5945804c.?p.Q40*Substitution - NonsensePeritoneum
COSM3767494c.654T>Cp.T218TSubstitution - coding silentLiver
COSM4411453c.1557delCp.S520fs*51Deletion - FrameshiftKidney
COSM4119059c.1652G>Ap.R551HSubstitution - MissenseStomach
COSM4426788c.608_609delCAp.T203fs*39Deletion - FrameshiftOesophagus
COSM238566c.680G>Ap.R227HSubstitution - MissenseProstate
COSM5432479c.932-2A>Cp.?UnknownOesophagus
COSM1167561c.661delGp.E221fs*10Deletion - FrameshiftSkin
COSM423261c.6_7insATp.K3fs*70Insertion - FrameshiftKidney
COSM1169485c.29G>Ap.S10NSubstitution - MissenseKidney
COSM405319c.97T>Gp.Y33DSubstitution - MissenseKidney
COSM4387454c.438-2A>Gp.?UnknownEye
COSM5702521c.1904_1907delTGCTp.L635fs*19Deletion - FrameshiftEye
COSM3736949c.510_511insTp.V171fs*12Insertion - FrameshiftSkin
COSM1732085c.2073delAp.V692fs*>38Deletion - FrameshiftKidney
COSM5883842c.908C>Ap.A303ESubstitution - MissenseLarge_intestine
COSM51981c.2015A>Gp.D672GSubstitution - MissensePleura
COSM5574320c.117_122+6del12p.?UnknownEye
COSM5702519c.666_666delCp.Y223fs*8Deletion - FrameshiftEye
COSM1169481c.2101C>Tp.R701CSubstitution - MissensePancreas
COSM1732122c.256-1G>Ap.?UnknownKidney
COSM422736c.128T>Gp.V43GSubstitution - MissenseKidney
COSM51976c.507C>Gp.H169QSubstitution - MissenseBiliary_tract
COSM110721c.178C>Tp.R60*Substitution - NonsenseEye
COSM4387444c.1918_1919insGGp.E640fs*16Insertion - FrameshiftEye
COSM96354c.1604_1604delAp.D535fs*36Deletion - FrameshiftPleura
COSM5945797c.?p.R512fs*59FrameshiftPleura
COSM731110c.51G>Tp.L17LSubstitution - coding silentLung
COSM1155726c.459_459delTp.E154fs*33Deletion - FrameshiftSkin
COSM1633250c.586T>Gp.W196GSubstitution - MissenseLiver
COSM1716583c.2057-?_2190+?delp.?UnknownPleura
COSM1046993c.1226T>Cp.V409ASubstitution - MissenseEndometrium
COSM51991c.516C>Gp.S172RSubstitution - MissenseSkin
COSM1660727c.689T>Ap.L230QSubstitution - MissenseKidney
COSM51976c.507C>Gp.H169QSubstitution - MissenseEye
COSM110724c.2090C>Gp.S697CSubstitution - MissenseSkin
COSM5025953c.598G>Ap.E200KSubstitution - MissensePleura
COSM5611443c.634G>Tp.E212*Substitution - NonsensePleura
COSM4119068c.10G>Tp.G4CSubstitution - MissenseStomach
COSM96358c.2050C>Tp.Q684*Substitution - NonsensePleura
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM4976363c.1730-1G>Ap.?UnknownOesophagus
COSM110818c.1_2190del2190p.0?Whole gene deletionPericardium
COSM4387432c.437G>Ap.R146KSubstitution - MissenseEye
COSM4411449c.829C>Tp.Q277*Substitution - NonsenseKidney
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM5006576c.?_?ins?p.?fs*?Insertion - FrameshiftKidney
COSM4387448c.256-25_270del40p.?UnknownEye
COSM1245946c.709C>Tp.R237CSubstitution - MissenseOesophagus
COSM4411449c.829C>Tp.Q277*Substitution - NonsenseCervix
COSM5516932c.91_93delGAGp.E31delEDeletion - In frameBiliary_tract
COSM5514411c.122+1delGp.?UnknownBiliary_tract
COSM1716584c.660-?_783+?delp.?UnknownPleura
COSM5967202c.592_593insGp.E198fs*45Insertion - FrameshiftSalivary_gland
COSM5611426c.504_511delCCACTTTGp.H169fs*11Deletion - FrameshiftPleura
COSM4771209c.272G>Ap.C91YSubstitution - MissensePleura
COSM1424462c.814C>Tp.Q272*Substitution - NonsenseLarge_intestine
COSM249184c.1358_1359delAAp.K453fs*15Deletion - FrameshiftPancreas
COSM2853454c.1821G>Ap.T607TSubstitution - coding silentLarge_intestine
COSM5599122c.819C>Tp.T273TSubstitution - coding silentSkin
COSM96349c.241T>Gp.F81VSubstitution - MissensePleura
COSM307189c.784_2190del1407p.L262_*730delDeletion - In framePleura
COSM5945962c.1942_1944delGCGp.A648delDeletion - In frameEye
COSM1732039c.56_58delTGGp.V19delVDeletion - In frameKidney
COSM1580073c.1357A>Gp.K453ESubstitution - MissenseCentral_nervous_system
COSM1716568c.581-?_659+?delp.?UnknownPleura
COSM3358469c.229_232delGTGAp.V77fs*9Deletion - FrameshiftKidney
COSM4387446c.1986_1989delTGATp.I662fs*29Deletion - FrameshiftEye
COSM4387433c.458_459delCTp.P153fs*7Deletion - FrameshiftEye
COSM1309339c.1987G>Cp.D663HSubstitution - MissenseUrinary_tract
COSM5611423c.659+1G>Tp.?UnknownPleura
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM3736952c.2023_2024insATAp.F674_I675insNInsertion - In frameSkin
COSM480291c.224A>Gp.D75GSubstitution - MissenseKidney
COSM1424466c.587G>Ap.W196*Substitution - NonsenseEye
COSM3824312c.134G>Ap.G45ESubstitution - MissenseBreast
COSM2853466c.1445C>Tp.S482LSubstitution - MissenseLarge_intestine
COSM5702626c.123-2A>Gp.?UnknownEye
COSM1666500c.915_916insTGp.E306fs*30Insertion - FrameshiftEye
COSM4954548c.1908G>Tp.L636LSubstitution - coding silentLiver
COSM1580073c.1357A>Gp.K453ESubstitution - MissenseCentral_nervous_system
COSM1291739c.1031A>Gp.N344SSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM3596038c.1246C>Tp.L416FSubstitution - MissenseSkin
COSM4387422c.125_145del21p.P42_F48delDeletion - In frameEye
COSM4848597c.1313C>Gp.S438*Substitution - NonsenseCervix
COSM4996362c.587G>Tp.W196LSubstitution - MissenseUpper_aerodigestive_tract
COSM480288c.799C>Tp.Q267*Substitution - NonsenseBiliary_tract
COSM1046996c.631A>Gp.M211VSubstitution - MissenseEndometrium
COSM1716568c.581-?_659+?delp.?UnknownPleura
COSM4387455c.580+2T>Gp.?UnknownEye
COSM423031c.458delCp.P153fs*34Deletion - FrameshiftKidney
COSM1046986c.2056G>Tp.G686CSubstitution - MissenseEndometrium
COSM4973298c.1828A>Tp.R610*Substitution - NonsenseOesophagus
COSM4091162c.932-7G>Tp.?UnknownOesophagus
COSM93952c.836C>Tp.S279LSubstitution - MissenseOvary
COSM1617864c.807_808insAGp.L270fs*2Insertion - FrameshiftLiver
COSM1737973c.?p.L96_N102delDeletion - In frameEye
COSM4387419c.10_27del18p.G4_E9delDeletion - In frameEye
COSM1716586c.1117-?_1250+?delp.?UnknownPleura
COSM51975c.1911_1913delGTGp.K637_C638>NComplex - deletion inframeEye
COSM5945798c.?p.T517fs*51FrameshiftPleura
COSM3358465c.2132delAp.K711fs*>19Deletion - FrameshiftKidney
COSM48859c.1153C>Tp.R385*Substitution - NonsenseEye
COSM110818c.1_2190del2190p.0?Whole gene deletionEye
COSM5967200c.1552_1553insCCp.R518fs*54Insertion - FrameshiftSalivary_gland
COSM480297c.3G>Ap.M1ISubstitution - MissenseKidney
COSM1660728c.271T>Gp.C91GSubstitution - MissensePleura
COSM3736954c.?p.?UnknownSkin
COSM96375c.354_354delCp.F118fs*69Deletion - FrameshiftPleura
COSM110734c.139A>Tp.I47FSubstitution - MissenseEye
COSM110735c.1379C>Gp.S460*Substitution - NonsenseCervix
COSM5436015c.25G>Ap.E9KSubstitution - MissenseOesophagus
COSM1235381c.862_920del59p.A288fs*90Deletion - FrameshiftEye
COSM307187c.449_467del19p.H151fs*30Deletion - FrameshiftPleura
COSM584256c.253C>Tp.Q85*Substitution - NonsenseOesophagus
COSM5945961c.631_636delATGGAGp.M211_E212delDeletion - In frameEye
COSM1732122c.256-1G>Ap.?UnknownEye
COSM1716577c.38-?_931+?delp.?UnknownPleura
COSM51991c.516C>Gp.S172RSubstitution - MissenseEye
COSM3774109c.685A>Cp.N229HSubstitution - MissenseKidney
COSM4169301c.?p.?UnknownPleura
COSM3767493c.745A>Gp.K249ESubstitution - MissenseLiver
COSM307730c.283G>Cp.A95PSubstitution - MissenseKidney
COSM3767492c.758A>Tp.Q253LSubstitution - MissenseLiver
COSM480293c.92A>Cp.E31ASubstitution - MissenseKidney
COSM1169489c.?p.?UnknownKidney
COSM110721c.178C>Tp.R60*Substitution - NonsenseKidney
COSM5355154c.1742G>Ap.G581DSubstitution - MissenseLarge_intestine
COSM3824311c.277A>Gp.T93ASubstitution - MissenseBreast
COSM4770768c.790delAp.R264fs*2Deletion - FrameshiftPleura
COSM5611427c.511_512insCCACTTTTGp.F170_V171insATFInsertion - In framePleura
COSM1732149c.2110delGp.V704fs*>26Deletion - FrameshiftKidney
COSM52918c.1984-1G>Tp.?UnknownEye
COSM1659757c.2072delTp.L691fs*>39Deletion - FrameshiftKidney
COSM4954514c.1909A>Tp.K637*Substitution - NonsenseLiver
COSM1666564c.1831_1834delGAGAp.E611fs*5Deletion - FrameshiftEye
COSM5945960c.628_629delATp.I210fs*32Deletion - FrameshiftEye
COSM51977c.588G>Ap.W196*Substitution - NonsensePleura
COSM4770792c.255G>Tp.Q85HSubstitution - MissensePleura
COSM5006574c.?p.L709FSubstitution - MissenseKidney
COSM1753301c.692T>Cp.M231TSubstitution - MissenseUrinary_tract
COSM3358466c.2097delGp.R700fs*>30Deletion - FrameshiftKidney
COSM1716567c.1965_1966delGAp.K656fs*7Deletion - FrameshiftPleura
COSM1137062c.466C>Tp.Q156*Substitution - NonsenseKidney
COSM5325085c.1661delGp.G554fs*17Deletion - FrameshiftEye
COSM4185565c.13T>Ap.W5RSubstitution - MissenseKidney
COSM4387421c.82C>Tp.Q28*Substitution - NonsenseBone
COSM96378c.438-24_438-2delp.?UnknownPleura
COSM1046985c.2099G>Ap.R700QSubstitution - MissenseStomach
COSM51988c.273T>Gp.C91WSubstitution - MissenseEye
COSM1245946c.709C>Tp.R237CSubstitution - MissenseLiver
COSM4119057c.1839G>Ap.T613TSubstitution - coding silentStomach
COSM3365363c.932-2A>Gp.?UnknownKidney
COSM96367c.122+2T>Ap.?UnknownKidney
COSM1235384c.68-9_72del14p.?UnknownEye
COSM5490541c.438-1G>Tp.?UnknownBiliary_tract
COSM4954548c.1908G>Tp.L636LSubstitution - coding silentLiver
COSM5945810c.1730-2A>Gp.?UnknownPeritoneum
COSM1665368c.38-1_38delGGp.?UnknownPleura
COSM420363c.141C>Gp.I47MSubstitution - MissenseUrinary_tract
COSM3358467c.1220delAp.D407fs*23Deletion - FrameshiftKidney
COSM159327c.838C>Tp.Q280*Substitution - NonsenseBreast
COSM4171255c.1116G>Tp.Q372HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM5611445c.1027_1028insAGCCp.L343fs*56Insertion - FrameshiftPleura
COSM4188375c.580G>Tp.G194WSubstitution - MissenseKidney
COSM5611428c.44delTp.F15fs*57Deletion - FrameshiftPleura
COSM5762192c.1569C>Tp.V523VSubstitution - coding silentPancreas
COSM5736634c.1133C>Tp.A378VSubstitution - MissenseSmall_intestine
COSM1235380c.662_662delAp.E221fs*10Deletion - FrameshiftEye
COSM1716565c.719_723delAGTATp.K240fs*42Deletion - FrameshiftPleura
COSM1732114c.2T>Cp.M1TSubstitution - MissenseEye
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM5490541c.438-1G>Tp.?UnknownEye
COSM5702526c.2009_2029del21p.N670_C676delDeletion - In frameEye
COSM1737980c.?p.?UnknownEye
COSM51978c.757C>Tp.Q253*Substitution - NonsenseKidney
COSM480292c.122+2T>Cp.?UnknownKidney
COSM5020138c.1002A>Gp.L334LSubstitution - coding silentSoft_tissue
COSM249341c.512T>Ap.V171DSubstitution - MissenseKidney
COSM480287c.836C>Ap.S279*Substitution - NonsenseKidney
COSM1046990c.1642C>Tp.R548CSubstitution - MissenseEndometrium
COSM4770756c.1497delCp.I499fs*72Deletion - FrameshiftPleura
COSM5945808c.362_375+10del24p.?UnknownPleura
COSM5611455c.956C>Gp.S319*Substitution - NonsensePleura
COSM5702528c.1184C>Ap.S395*Substitution - NonsenseEye
COSM423030c.193delTp.L65fs*7Deletion - FrameshiftKidney
COSM110721c.178C>Tp.R60*Substitution - NonsenseSkin
COSM307183c.518A>Cp.Y173SSubstitution - MissensePleura
COSM420364c.673G>Cp.D225HSubstitution - MissenseUrinary_tract
COSM1184436c.382G>Tp.G128*Substitution - NonsenseKidney
COSM5702533c.370_372delCCTp.P124delDeletion - In frameEye
COSM307186c.438-19_441del23p.?UnknownPleura
COSM1716581c.376-?_1116+?delp.?UnknownPleura
COSM4387456c.659+1G>Ap.?UnknownEye
COSM249184c.1358_1359delAAp.K453fs*15Deletion - FrameshiftKidney
COSM110722c.1768C>Tp.Q590*Substitution - NonsenseSkin
COSM48859c.1153C>Tp.R385*Substitution - NonsenseStomach
COSM5611422c.1213G>Tp.E405*Substitution - NonsensePleura
COSM1046998c.93G>Tp.E31DSubstitution - MissenseEndometrium
COSM96355c.1794_1797delAGTGp.V599fs*17Deletion - FrameshiftPleura
COSM3392494c.1526C>Ap.S509*Substitution - NonsensePancreas
COSM4387440c.1175_1182delAGCAGTACp.Q392fs*3Deletion - FrameshiftEye
COSM5020268c.1786A>Gp.S596GSubstitution - MissenseSoft_tissue
COSM96358c.2050C>Tp.Q684*Substitution - NonsenseKidney
COSM1660730c.92A>Tp.E31VSubstitution - MissenseKidney
COSM1617863c.1251-7C>Ap.?UnknownLiver
COSM5506096c.233delAp.N78fs*9Deletion - FrameshiftBiliary_tract
COSM51978c.757C>Tp.Q253*Substitution - NonsenseOesophagus
COSM4387436c.723T>Ap.Y241*Substitution - NonsenseEye
COSM1744863c.698delTp.V233fs*16Deletion - FrameshiftBiliary_tract
COSM279113c.896A>Gp.N299SSubstitution - MissenseLarge_intestine
COSM1046995c.1069C>Ap.L357MSubstitution - MissenseEndometrium
COSM5803335c.2082G>Cp.Q694HSubstitution - MissenseLiver
COSM3596039c.376-1G>Ap.?UnknownSkin
COSM51978c.757C>Tp.Q253*Substitution - NonsenseLiver
COSM1046989c.1809C>Tp.V603VSubstitution - coding silentEndometrium
COSM5399742c.1571_1572CC>TTp.T524ISubstitution - MissenseSkin
COSM1617861c.2137C>Tp.R713WSubstitution - MissenseLiver
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM96357c.1972A>Tp.K658*Substitution - NonsensePleura
COSM3365367c.67+1G>Cp.?UnknownKidney
COSM1665367c.155_158delGGATp.W52fs*19Deletion - FrameshiftKidney
COSM252373c.316G>Ap.V106MSubstitution - MissenseSmall_intestine
COSM5702529c.261_270del10p.P88fs*7Deletion - FrameshiftEye
COSM48859c.1153C>Tp.R385*Substitution - NonsensePancreas
COSM4767419c.489G>Ap.R163RSubstitution - coding silentBiliary_tract
COSM110807c.214_238del25p.I72fs*7Deletion - FrameshiftPleura
COSM5347622c.123-5_127delCCCAGCCCTGp.?UnknownLiver
COSM4976363c.1730-1G>Ap.?UnknownUpper_aerodigestive_tract
COSM1732156c.88G>Tp.E30*Substitution - NonsenseKidney
COSM1737979c.?p.?UnknownEye
COSM4387425c.151_215del65p.K51fs*1Deletion - FrameshiftEye
COSM1670246c.1550C>Tp.T517MSubstitution - MissenseLarge_intestine
COSM1184436c.382G>Tp.G128*Substitution - NonsenseLarge_intestine
COSM1732101c.1306C>Tp.Q436*Substitution - NonsenseKidney
COSM4387431c.422A>Gp.H141RSubstitution - MissenseEye
COSM5945965c.290T>Cp.L97PSubstitution - MissenseEye
COSM96358c.2050C>Tp.Q684*Substitution - NonsenseKidney
COSM422743c.2134C>Tp.Q712*Substitution - NonsenseKidney
COSM4387457c.581-5_590del15p.?UnknownEye
COSM51983c.759_759delGp.T254fs*3Deletion - FrameshiftEye
COSM422744c.2188T>Gp.*730GNonstop extensionKidney
COSM4387454c.438-2A>Gp.?UnknownEye
COSM5702534c.1256_1269del14p.K419fs*11Deletion - FrameshiftEye
COSM1716570c.38-?_2190+?delp.?UnknownPleura
COSM2853483c.920G>Ap.G307DSubstitution - MissenseLarge_intestine
COSM1742841c.1315G>Tp.V439LSubstitution - MissenseBiliary_tract
COSM5702522c.2079_2080insGp.Q694fs*23Insertion - FrameshiftEye
COSM4387454c.438-2A>Gp.?UnknownPleura
COSM5931223c.1838C>Tp.T613MSubstitution - MissenseSkin
COSM1046992c.1484C>Tp.T495MSubstitution - MissenseSalivary_gland
COSM1717433c.?p.H141PSubstitution - MissenseBiliary_tract
COSM1732212c.851A>Gp.E284GSubstitution - MissenseKidney
COSM4150000c.34C>Gp.P12ASubstitution - MissenseOvary
COSM52916c.38-25_47del35p.?UnknownEye
COSM1717432c.?p.K419TSubstitution - MissenseBiliary_tract
COSM3781660c.2057-5C>Gp.?UnknownPancreas
COSM341361c.576C>Tp.D192DSubstitution - coding silentLung
COSM110735c.1379C>Gp.S460*Substitution - NonsensePleura
COSM480290c.233A>Gp.N78SSubstitution - MissenseKidney
COSM3736950c.1392_1392delCp.I465fs*106Deletion - FrameshiftSkin
COSM4387456c.659+1G>Ap.?UnknownEye
COSM1716564c.778C>Tp.Q260*Substitution - NonsensePleura
COSM4387450c.38-1G>Cp.?UnknownEye
COSM4920411c.438-2A>Tp.?UnknownLiver
COSM1651692c.?p.?UnknownEye
COSM1666864c.?p.P510fs*61UnknownUrinary_tract
COSM2853459c.1564C>Ap.P522TSubstitution - MissenseLarge_intestine
COSM5095502c.752_753delACp.N251fs*32Deletion - FrameshiftThymus
COSM1753302c.505C>Tp.H169YSubstitution - MissensePleura
COSM51978c.757C>Tp.Q253*Substitution - NonsenseEye
COSM51984c.2188T>Ap.*730?Nonstop extensionKidney
COSM1732211c.1946G>Ap.C649YSubstitution - MissenseKidney
COSM4158211c.717C>Tp.I239ISubstitution - coding silentThyroid
COSM1732114c.2T>Cp.M1TSubstitution - MissenseKidney
COSM4411453c.1557delCp.S520fs*51Deletion - FrameshiftKidney
COSM238942c.934G>Tp.G312CSubstitution - MissenseProstate
COSM405320c.430delCp.H144fs*43Deletion - FrameshiftKidney
COSM1716568c.581-?_659+?delp.?UnknownPleura
COSM5611429c.1052C>Tp.T351ISubstitution - MissensePleura
COSM422740c.510T>Ap.F170LSubstitution - MissenseKidney
COSM110735c.1379C>Gp.S460*Substitution - NonsenseEye
COSM1424460c.1338C>Tp.N446NSubstitution - coding silentLarge_intestine
COSM4489897c.354C>Tp.F118FSubstitution - coding silentSkin
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM4411449c.829C>Tp.Q277*Substitution - NonsenseCervix
COSM96362c.188C>Gp.S63CSubstitution - MissensePleura
COSM480286c.932-1G>Tp.?UnknownKidney
COSM480297c.3G>Ap.M1ISubstitution - MissenseSkin
COSM1685550c.168_179del12p.R57_R60delRSRRDeletion - In frameSkin
COSM5611446c.371_375+15del20p.?UnknownPleura
COSM5760544c.?p.Q393?UnknownSkin
COSM96367c.122+2T>Ap.?UnknownPleura
COSM5574319c.1924_1924delGp.E642fs*13Deletion - FrameshiftEye
COSM212774c.1574C>Gp.S525CSubstitution - MissenseBreast
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM480294c.67+1G>Ap.?UnknownKidney
COSM1716569c.784-?_1890+?delp.?UnknownPleura
COSM1737975c.?p.H193QSubstitution - MissenseEye
COSM480283c.1876A>Tp.K626*Substitution - NonsenseKidney
COSM5757613c.?p.K286fs*?FrameshiftKidney
COSM4387438c.1046_1046delAp.N349fs*13Deletion - FrameshiftEye
COSM1717423c.?p.?UnknownEye
COSM4772240c.166C>Tp.R56CSubstitution - MissenseStomach
COSM4411453c.1557delCp.S520fs*51Deletion - FrameshiftKidney
COSM1665368c.38-1_38delGGp.?UnknownKidney
COSM110818c.1_2190del2190p.0?Whole gene deletionPeritoneum
COSM5043727c.551A>Tp.D184VSubstitution - MissenseLiver
COSM1617861c.2137C>Tp.R713WSubstitution - MissenseLiver
COSM480294c.67+1G>Ap.?UnknownEye
COSM5945796c.?p.Y129*Substitution - NonsensePleura
COSM5702535c.375G>Cp.E125DSubstitution - MissenseEye
COSM1424465c.619C>Tp.R207WSubstitution - MissenseLarge_intestine
COSM4949532c.92delAp.E31fs*41Deletion - FrameshiftLiver
COSM5508601c.429C>Tp.S143SSubstitution - coding silentBiliary_tract
COSM1633249c.788_789insTp.R264fs*20Insertion - FrameshiftLiver
COSM4387431c.422A>Gp.H141RSubstitution - MissenseEye
COSM5611434c.40delCp.L14fs*58Deletion - FrameshiftPleura
COSM4119060c.1622T>Gp.V541GSubstitution - MissenseStomach
COSM5702520c.1518_1522delACTGCp.R508fs*27Deletion - FrameshiftEye
COSM96372c.160G>Tp.E54*Substitution - NonsensePleura
COSM4976363c.1730-1G>Ap.?UnknownOesophagus
COSM4646094c.527T>Cp.I176TSubstitution - MissenseLarge_intestine
COSM423032c.971delCp.P324fs*11Deletion - FrameshiftKidney
COSM308442c.870delCp.N290fs*45Deletion - FrameshiftKidney
COSM1716568c.581-?_659+?delp.?UnknownPleura
COSM5611440c.651delCp.T218fs*13Deletion - FrameshiftPleura
COSM4119065c.488G>Ap.R163QSubstitution - MissenseStomach
COSM249471c.2077G>Tp.E693*Substitution - NonsenseKidney
COSM1190738c.102_111del10p.D34fs*35Deletion - FrameshiftLung
COSM110727c.915_916insTp.E306fs*1Insertion - FrameshiftEye
COSM3365365c.326G>Tp.G109VSubstitution - MissenseKidney
COSM480297c.3G>Ap.M1ISubstitution - MissenseKidney
COSM3373259c.92A>Gp.E31GSubstitution - MissenseThyroid
COSM48860c.406G>Tp.E136*Substitution - NonsenseLung
COSM4954514c.1909A>Tp.K637*Substitution - NonsenseLiver
COSM4964076c.590G>Cp.G197ASubstitution - MissenseLiver
COSM4119061c.801G>Ap.Q267QSubstitution - coding silentStomach
COSM110721c.178C>Tp.R60*Substitution - NonsenseKidney
COSM96353c.1553_1559delGGCCCTCp.R518fs*51Deletion - FrameshiftPleura
COSM48859c.1153C>Tp.R385*Substitution - NonsenseEye
COSM96363c.602_602delAp.E201fs*30Deletion - FrameshiftPleura
COSM4387429c.290T>Ap.L97QSubstitution - MissenseEye
COSM110725c.219_219delTp.D73fs*5Deletion - FrameshiftEye
COSM3596041c.88G>Ap.E30KSubstitution - MissenseSkin
COSM3824310c.1291G>Ap.G431SSubstitution - MissenseBreast
COSM5760544c.?p.Q393?UnknownSkin
COSM1169487c.645_645delCp.L216fs*15Deletion - FrameshiftKidney
COSM1716582c.38-?_1983+?delp.?UnknownPleura
COSM1717434c.68-2A>Gp.?UnknownBiliary_tract
COSM5006575c.?p.R699QSubstitution - MissenseKidney
COSM4119062c.734T>Cp.L245PSubstitution - MissenseStomach
COSM5399744c.334C>Tp.L112LSubstitution - coding silentSkin
COSM423036c.1793delCp.P598fs*19Deletion - FrameshiftKidney
COSM2853466c.1445C>Tp.S482LSubstitution - MissenseLarge_intestine
COSM446833c.145C>Gp.L49VSubstitution - MissenseKidney
COSM5708825c.1251-1G>Ap.?UnknownHaematopoietic_and_lymphoid_tissue
COSM96374c.284C>Ap.A95DSubstitution - MissensePleura
COSM3358470c.222delTp.D74fs*4Deletion - FrameshiftKidney
COSM5355154c.1742G>Ap.G581DSubstitution - MissenseLarge_intestine
COSM1046989c.1809C>Tp.V603VSubstitution - coding silentLarge_intestine
COSM1685924c.455_456delTCp.L152fs*2Deletion - FrameshiftSkin
COSM5945802c.?p.S63CSubstitution - MissensePleura
COSM52917c.38-12_63del38p.?UnknownEye
COSM1744864c.1231_1232insAp.N411fs*7Insertion - FrameshiftBiliary_tract
COSM480288c.799C>Tp.Q267*Substitution - NonsenseKidney
COSM480297c.3G>Ap.M1ISubstitution - MissenseEye
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM1716578c.38-?_255+?delp.?UnknownPleura
COSM51991c.516C>Gp.S172RSubstitution - MissenseEye
COSM110818c.1_2190del2190p.0?Whole gene deletionEye
COSM1732177c.358A>Tp.K120*Substitution - NonsenseKidney
COSM5019838c.1235C>Tp.T412ISubstitution - MissenseSoft_tissue
COSM52918c.1984-1G>Tp.?UnknownUrinary_tract
COSM238941c.1730-9_1732delTCTTCCCAGAGGp.?UnknownProstate
COSM1670246c.1550C>Tp.T517MSubstitution - MissenseLarge_intestine
COSM4399344c.1928T>Cp.I643TSubstitution - MissenseSkin
COSM5075566c.1799_1800insACp.K601fs*17Insertion - FrameshiftKidney
COSM1716574c.376-?_580+?delp.?UnknownPleura
COSM110728c.812_821del10p.I271fs*61Deletion - FrameshiftEye
COSM1235383c.790_790delAp.R264fs*2Deletion - FrameshiftEye
COSM5945799c.?p.R610fs*7FrameshiftPleura
COSM96350c.323_324delTGp.L108fs*17Deletion - FrameshiftPleura
COSM1742839c.784-1G>Ap.?UnknownBiliary_tract
COSM5880104c.?p.E374KSubstitution - MissenseSkin
COSM110723c.278_281delCTCAp.T93fs*4Deletion - FrameshiftSkin
COSM5344521c.1251-1G>Cp.?UnknownLarge_intestine
COSM110818c.1_2190del2190p.0?Whole gene deletionSalivary_gland
COSM5611427c.511_512insCCACTTTTGp.F170_V171insATFInsertion - In framePleura
COSM5945959c.1842_1842delGp.M615fs*2Deletion - FrameshiftEye
COSM1737979c.?p.?UnknownEye
COSM1734830c.34C>Ap.P12TSubstitution - MissensePancreas
COSM345545c.1081C>Gp.L361VSubstitution - MissenseLung
COSM4770835c.1114C>Tp.Q372*Substitution - NonsensePleura
COSM4584532c.705C>Tp.P235PSubstitution - coding silentBone
COSM1046994c.1195G>Ap.D399NSubstitution - MissenseEndometrium
COSM110730c.6_7insTp.K3fs*1Insertion - FrameshiftEye
COSM96377c.2054A>Tp.E685VSubstitution - MissensePleura
COSM159327c.838C>Tp.Q280*Substitution - NonsensePleura
COSM1716568c.581-?_659+?delp.?UnknownPleura
COSM1169483c.383G>Tp.G128VSubstitution - MissenseKidney
COSM77329c.679C>Tp.R227CSubstitution - MissenseOvary
COSM1753301c.692T>Cp.M231TSubstitution - MissenseUrinary_tract
COSM1666778c.256-2A>Cp.?UnknownEye
COSM3669208c.1357A>Tp.K453*Substitution - NonsenseLiver
COSM1732018c.1701_1702insCTp.G568fs*4Insertion - FrameshiftKidney
COSM110737c.133G>Tp.G45*Substitution - NonsenseSkin
COSM5702530c.506_506delAp.H169fs*18Deletion - FrameshiftEye
COSM5952470c.1421C>Tp.P474LSubstitution - MissenseOesophagus
COSM96362c.188C>Gp.S63CSubstitution - MissensePleura
COSM4387441c.1217_1220delAGGAp.E406fs*23Deletion - FrameshiftEye
COSM4119067c.99C>Ap.Y33*Substitution - NonsenseStomach
COSM3773386c.?p.L65*Substitution - NonsenseLiver
COSM96365c.1892_1901del10p.E631fs*3Deletion - FrameshiftPleura
COSM2156956c.227T>Cp.I76TSubstitution - MissenseCentral_nervous_system
COSM249384c.1259_1260insTAGGGp.K421fs*11Insertion - FrameshiftKidney
COSM5550779c.283G>Ap.A95TSubstitution - MissenseProstate
COSM5508600c.438-5C>Tp.?UnknownBiliary_tract
COSM5490577c.211G>Ap.V71MSubstitution - MissenseBiliary_tract
COSM5574318c.1177C>Tp.Q393*Substitution - NonsenseEye
COSM110721c.178C>Tp.R60*Substitution - NonsenseBiliary_tract
COSM51981c.2015A>Gp.D672GSubstitution - MissenseEye
COSM1186312c.1168C>Ap.P390TSubstitution - MissenseLung
COSM77329c.679C>Tp.R227CSubstitution - MissenseOvary
COSM4880708c.1619G>Ap.R540HSubstitution - MissenseProstate
COSM480282c.1881C>Gp.Y627*Substitution - NonsenseEye
COSM5757616c.?p.I586fs*?FrameshiftKidney
COSM1666695c.1729+1G>Tp.?UnknownEye
COSM1235382c.1717_1717delCp.L573fs*3Deletion - FrameshiftSkin
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM1169485c.29G>Ap.S10NSubstitution - MissenseKidney
COSM96360c.784-2A>Cp.?UnknownPleura
COSM50881c.781C>Tp.Q261*Substitution - NonsenseEye
COSM110738c.901G>Ap.A301TSubstitution - MissenseSkin
COSM3358464c.2149delCp.R717fs*>13Deletion - FrameshiftKidney
COSM5702523c.255G>Cp.Q85HSubstitution - MissenseEye
COSM5656405c.?p.E242*Substitution - NonsensePleura
COSM48859c.1153C>Tp.R385*Substitution - NonsenseLung
COSM1169485c.29G>Ap.S10NSubstitution - MissenseKidney
COSM1670246c.1550C>Tp.T517MSubstitution - MissenseBone
COSM5635199c.1196_1197insGp.D399fs*2Insertion - FrameshiftOesophagus
COSM249373c.1573_1580delTCCCACATp.S525fs*9Deletion - FrameshiftKidney
COSM5611423c.659+1G>Tp.?UnknownPleura
COSM1716572c.1-?_255+?delp.?UnknownPleura
COSM4387427c.202_227del26p.D68fs*3Deletion - FrameshiftEye
COSM3380646c.207G>Ap.T69TSubstitution - coding silentPancreas
COSM5038629c.1060_1061delGTp.V354fs*43Deletion - FrameshiftLiver
COSM480284c.1078T>Cp.F360LSubstitution - MissenseKidney
COSM1155727c.920_921insGp.N308fs*90Insertion - FrameshiftSkin
COSM1716570c.38-?_2190+?delp.?UnknownPleura
COSM4951024c.101A>Cp.D34ASubstitution - MissenseLiver
COSM480295c.50T>Cp.L17PSubstitution - MissenseKidney
COSM2853489c.504C>Tp.F168FSubstitution - coding silentBiliary_tract
COSM110729c.226_239del14p.I76fs*45Deletion - FrameshiftEye
COSM1169642c.2110_2111insGp.V704fs*13Insertion - FrameshiftKidney
COSM51987c.1997_2005del9p.R666_H669>NComplex - deletion inframeEye
COSM307729c.2028_2046del19p.C676fs*10Deletion - FrameshiftKidney
COSM5611454c.1804delGp.E602fs*15Deletion - FrameshiftPleura
COSM252373c.316G>Ap.V106MSubstitution - MissenseOvary
COSM51976c.507C>Gp.H169QSubstitution - MissenseLiver
COSM446833c.145C>Gp.L49VSubstitution - MissenseBreast
COSM4411165c.1411_1412insCp.G472fs*20Insertion - FrameshiftKidney
COSM4387428c.254A>Cp.Q85PSubstitution - MissenseEye
COSM3702457c.502T>Cp.F168LSubstitution - MissenseLiver
COSM5025953c.598G>Ap.E200KSubstitution - MissenseBreast
COSM5945803c.?p.N349fs*13FrameshiftPleura
COSM3365362c.1985T>Ap.I662NSubstitution - MissenseKidney
COSM50881c.781C>Tp.Q261*Substitution - NonsenseBreast
COSM5967204c.1983+1G>Ap.?UnknownSalivary_gland
COSM422742c.1981A>Tp.K661*Substitution - NonsenseKidney
COSM5020058c.1407C>Tp.S469SSubstitution - coding silentSoft_tissue
COSM5599122c.819C>Tp.T273TSubstitution - coding silentSkin
COSM110806c.2047_2056+19del29p.?UnknownPleura
COSM5702525c.223G>Ap.D75NSubstitution - MissenseEye
COSM423029c.21_32del12p.E7_S10delELESDeletion - In frameKidney
COSM5490570c.175C>Tp.R59WSubstitution - MissenseBiliary_tract
COSM51985c.1714_1718delCCCCTp.P572fs*69Deletion - FrameshiftEye
COSM1046997c.129A>Gp.V43VSubstitution - coding silentEndometrium
COSM422743c.2134C>Tp.Q712*Substitution - NonsenseOesophagus
COSM96362c.188C>Gp.S63CSubstitution - MissenseEye
COSM5834715c.639_640insTp.I214fs*29Insertion - FrameshiftBreast
COSM4149999c.1274A>Cp.K425TSubstitution - MissenseOvary
COSM3365364c.434C>Gp.A145GSubstitution - MissenseKidney
COSM5880080c.?p.R385*Substitution - NonsenseMeninges
COSM51988c.273T>Gp.C91WSubstitution - MissensePleura
COSM5455216c.1213G>Ap.E405KSubstitution - MissenseLarge_intestine
COSM4767419c.489G>Ap.R163RSubstitution - coding silentBiliary_tract
COSM5399741c.1798G>Ap.E600KSubstitution - MissenseSkin
COSM5611458c.42delCp.F15fs*57Deletion - FrameshiftPleura
COSM1424466c.587G>Ap.W196*Substitution - NonsenseEye
COSM1235382c.1717_1717delCp.L573fs*3Deletion - FrameshiftEye
COSM422735c.38G>Tp.G13VSubstitution - MissenseKidney
COSM1666806c.518A>Gp.Y173CSubstitution - MissenseEye
COSM110739c.1145_1146insGp.R383fs*15Insertion - FrameshiftSkin
COSM3596037c.1250G>Tp.R417MSubstitution - MissenseSkin
COSM96374c.284C>Ap.A95DSubstitution - MissensePleura
COSM4495571c.456C>Tp.L152LSubstitution - coding silentSkin
COSM52918c.1984-1G>Tp.?UnknownUrinary_tract
COSM4962755c.321C>Ap.D107ESubstitution - MissensePancreas
COSM5611424c.1303_1309delGGGCAACp.G435fs*134Deletion - FrameshiftPleura
COSM5656406c.?p.R238fs*?FrameshiftPleura
COSM110731c.993_993delAp.K331fs*4Deletion - FrameshiftEye
COSM5599122c.819C>Tp.T273TSubstitution - coding silentSkin
COSM50881c.781C>Tp.Q261*Substitution - NonsenseEye
COSM1738879c.1825A>Gp.S609GSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM480285c.936T>Gp.G312GSubstitution - coding silentKidney
COSM1716579c.38-?_1250+?delp.?UnknownPleura
COSM96361c.118C>Tp.Q40*Substitution - NonsensePleura
COSM4387447c.68-16_69del18p.?UnknownEye
COSM4387435c.506A>Cp.H169PSubstitution - MissenseEye
COSM5502718c.1345G>Ap.A449TSubstitution - MissenseBiliary_tract
COSM1716587c.1251-?_1729+?delp.?UnknownPleura
COSM48859c.1153C>Tp.R385*Substitution - NonsenseEye
COSM96356c.1952_1953insGp.E652fs*12Insertion - FrameshiftPleura
COSM51982c.621_636del16p.R208fs*18Deletion - FrameshiftEye
COSM5757617c.?p.R701fs*?FrameshiftKidney
COSM4770741c.2047delGp.A683fs*9Deletion - FrameshiftPleura
COSM1742840c.37+1G>Ap.?UnknownBiliary_tract
COSM422739c.438-1G>Ap.?UnknownKidney
COSM96373c.170_170delGp.S58fs*14Deletion - FrameshiftPleura
COSM249506c.2041_2042insTp.M681fs*36Insertion - FrameshiftKidney
COSM1692814c.1547C>Tp.P516LSubstitution - MissenseOesophagus
COSM4387426c.170_177GGTCCCGG>AGTp.R57fs*10Complex - frameshiftEye
COSM52914c.376-7_418del50p.?UnknownEye
COSM1732121c.916G>Tp.E306*Substitution - NonsenseKidney
COSM1633250c.586T>Gp.W196GSubstitution - MissenseLiver
COSM1670246c.1550C>Tp.T517MSubstitution - MissenseLarge_intestine
COSM96370c.580+2T>Cp.?UnknownPleura
COSM4755255c.661G>Tp.E221*Substitution - NonsenseStomach
COSM1716575c.1730-?_1890+?delp.?UnknownPleura
COSM5945963c.1939G>Cp.E647QSubstitution - MissenseEye
COSM480297c.3G>Ap.M1ISubstitution - MissenseKidney
COSM5757614c.?p.W202*Substitution - NonsenseKidney
COSM5702532c.1768_1769insGp.Q590fs*53Insertion - FrameshiftEye
COSM5095522c.2071C>Gp.L691VSubstitution - MissenseThymus
COSM1660728c.271T>Gp.C91GSubstitution - MissenseKidney
COSM52918c.1984-1G>Tp.?UnknownKidney
COSM5611426c.504_511delCCACTTTGp.H169fs*11Deletion - FrameshiftPleura
COSM1046992c.1484C>Tp.T495MSubstitution - MissenseEndometrium
COSM3736948c.58_59insTGp.E20fs*53Insertion - FrameshiftSkin
COSM110819c.999_1050del52p.V335fs*10Deletion - FrameshiftSkin
COSM51972c.382G>Cp.G128RSubstitution - MissenseEye
COSM584256c.253C>Tp.Q85*Substitution - NonsenseEye
COSM5607929c.1817C>Ap.A606DSubstitution - MissenseSkin
COSM96374c.284C>Ap.A95DSubstitution - MissensePleura
COSM5945805c.?p.S113fs*3FrameshiftPericardium
COSM1659477c.1252delTp.Y418fs*12Deletion - FrameshiftKidney
COSM4387420c.40_52del13p.L14fs*54Deletion - FrameshiftEye
COSM3365366c.67+2T>Gp.?UnknownKidney
COSM96371c.2057-4G>Tp.?UnknownPleura
COSM5945801c.?p.S460*Substitution - NonsensePleura
COSM110732c.243C>Ap.F81LSubstitution - MissenseEye
COSM1692814c.1547C>Tp.P516LSubstitution - MissenseSkin
COSM4411453c.1557delCp.S520fs*51Deletion - FrameshiftKidney
COSM5499572c.1604delAp.D535fs*36Deletion - FrameshiftBiliary_tract
COSM480290c.233A>Gp.N78SSubstitution - MissenseKidney
COSM96362c.188C>Gp.S63CSubstitution - MissenseEye
COSM4387439c.1147C>Tp.R383CSubstitution - MissenseEye
COSM3674006c.1257G>Tp.K419NSubstitution - MissenseProstate
COSM4411165c.1411_1412insCp.G472fs*20Insertion - FrameshiftKidney
COSM1424467c.558G>Ap.L186LSubstitution - coding silentLarge_intestine
COSM4387434c.497_509del13p.E166fs*17Deletion - FrameshiftEye
COSM1744865c.1666_1669delGTCAp.V556fs*14Deletion - FrameshiftBiliary_tract
COSM1716589c.1117-?_1890+?delp.?UnknownPleura
COSM1235381c.862_920del59p.A288fs*90Deletion - FrameshiftEye
COSM5611460c.1290_1299del10p.S430fs*138Deletion - FrameshiftPleura
COSM1737979c.?p.?UnknownEye
COSM1309341c.1012C>Tp.P338SSubstitution - MissenseUrinary_tract
COSM307184c.436_436A>CGp.P147fs*8Complex - frameshiftPleura
COSM423034c.1256delAp.K419fs*11Deletion - FrameshiftKidney
COSM1737977c.?p.H274SSubstitution - MissenseEye
COSM5611425c.504_510delCCACTTTp.F168fs*17Deletion - FrameshiftPleura
COSM5599122c.819C>Tp.T273TSubstitution - coding silentSkin
COSM1716566c.1538C>Gp.S513*Substitution - NonsenseThymus
COSM1670246c.1550C>Tp.T517MSubstitution - MissenseLarge_intestine
COSM159327c.838C>Tp.Q280*Substitution - NonsenseLiver
COSM307186c.438-19_441del23p.?UnknownPleura
COSM3392494c.1526C>Ap.S509*Substitution - NonsensePancreas
COSM422735c.38G>Tp.G13VSubstitution - MissenseKidney
COSM5095516c.1039C>Tp.H347YSubstitution - MissenseThymus
COSM3824312c.134G>Ap.G45ESubstitution - MissenseSkin
COSM4665178c.1074G>Ap.P358PSubstitution - coding silentLarge_intestine
COSM5945806c.?p.M80fs*45FrameshiftPericardium
COSM4387424c.145_145delCp.L49fs*23Deletion - FrameshiftEye
COSM4387443c.1882_1885delTCACp.S628fs*8Deletion - FrameshiftEye
COSM5611464c.133G>Cp.G45RSubstitution - MissensePleura
COSM4991931c.23T>Gp.L8RSubstitution - MissenseSkin
COSM4411165c.1411_1412insCp.G472fs*20Insertion - FrameshiftKidney
COSM1666387c.91G>Ap.E31KSubstitution - MissenseEye
COSM96359c.256-13_256-1delp.?UnknownPleura
COSM52923c.353_372del20p.F118fs*1Deletion - FrameshiftEye
COSM51990c.495_519del25p.E166fs*13Deletion - FrameshiftEye
COSM1046985c.2099G>Ap.R700QSubstitution - MissenseEndometrium
COSM96374c.284C>Ap.A95DSubstitution - MissenseEye
COSM5656403c.?p.F170CSubstitution - MissensePleura
COSM1617863c.1251-7C>Ap.?UnknownLiver
COSM1716574c.376-?_580+?delp.?UnknownPleura
COSM5506096c.233delAp.N78fs*9Deletion - FrameshiftHaematopoietic_and_lymphoid_tissue
COSM1716588c.1891-?_2056+?delp.?UnknownPleura
COSM5517824c.404delCp.P135fs*52Deletion - FrameshiftBiliary_tract
COSM5656404c.?p.D184YSubstitution - MissensePleura
COSM243166c.508T>Gp.F170VSubstitution - MissenseKidney
COSM5075565c.1865_1866delTGp.L622fs*1Deletion - FrameshiftKidney
COSM3824309c.1696G>Ap.E566KSubstitution - MissenseBreast
COSM1753302c.505C>Tp.H169YSubstitution - MissenseUpper_aerodigestive_tract
COSM1046987c.1944G>Ap.A648ASubstitution - coding silentEndometrium
COSM1717430c.?p.F81LSubstitution - MissenseBiliary_tract
COSM1716566c.1538C>Gp.S513*Substitution - NonsensePleura
COSM3596036c.1885C>Tp.P629SSubstitution - MissenseSkin
COSM423033c.1219delGp.D407fs*23Deletion - FrameshiftKidney
COSM1732091c.1441_1442insAp.H481fs*11Insertion - FrameshiftKidney
COSM5075566c.1799_1800insACp.K601fs*17Insertion - FrameshiftKidney
COSM422741c.889G>Tp.E297*Substitution - NonsenseKidney
COSM4554880c.634G>Ap.E212KSubstitution - MissenseSkin
COSM238566c.680G>Ap.R227HSubstitution - MissenseLung
COSM51986c.144_144delCp.L49fs*23Deletion - FrameshiftEye
COSM1716591c.1-?_122+?delp.?UnknownPleura
COSM96364c.860C>Gp.S287*Substitution - NonsenseKidney
COSM4119064c.524C>Ap.P175HSubstitution - MissenseStomach
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM5611463c.1934delAp.N645fs*10Deletion - FrameshiftPleura
COSM1716568c.581-?_659+?delp.?UnknownPleura
COSM4665179c.449G>Ap.R150HSubstitution - MissenseBiliary_tract
COSM5945964c.1937A>Gp.Y646CSubstitution - MissenseEye
COSM96371c.2057-4G>Tp.?UnknownPleura
COSM110726c.58G>Tp.E20*Substitution - NonsenseEye
COSM3993217c.812T>Cp.I271TSubstitution - MissenseKidney
COSM3824308c.1730-1G>Tp.?UnknownBreast
COSM1717423c.?p.?UnknownPleura
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM4188015c.254A>Gp.Q85RSubstitution - MissenseKidney
COSM4387421c.82C>Tp.Q28*Substitution - NonsenseEye
COSM4951024c.101A>Cp.D34ASubstitution - MissenseLiver
COSM1737976c.?p.H141RSubstitution - MissenseEye
COSM3596040c.186C>Tp.V62VSubstitution - coding silentSkin
COSM4119058c.1810G>Ap.V604MSubstitution - MissenseStomach
COSM2156956c.227T>Cp.I76TSubstitution - MissenseCentral_nervous_system
COSM1235382c.1717_1717delCp.L573fs*3Deletion - FrameshiftEye
COSM249460c.71T>Ap.V24DSubstitution - MissenseKidney
COSM1184436c.382G>Tp.G128*Substitution - NonsenseSalivary_gland
COSM1666583c.655delGp.A219fs*12Deletion - FrameshiftEye
COSM4119066c.295G>Ap.V99MSubstitution - MissenseStomach
COSM5702531c.272_286del15p.C91_A95delDeletion - In frameEye
COSM5025144c.1997_1997delGp.R666fs*26Deletion - FrameshiftEye
COSM4387437c.904_905insTp.P302fs*5Insertion - FrameshiftEye
COSM3365254c.160G>Ap.E54KSubstitution - MissenseKidney
COSM1235384c.68-9_72del14p.?UnknownEye
COSM5756316c.1036delGp.V346fs*16Deletion - FrameshiftLarge_intestine
COSM96352c.1182C>Gp.Y394*Substitution - NonsensePleura
COSM1235380c.662_662delAp.E221fs*10Deletion - FrameshiftEye
COSM96364c.860C>Gp.S287*Substitution - NonsensePleura
COSM307188c.1_375del375p.M1_E125delDeletion - In framePleura
COSM96369c.437+1G>Tp.?UnknownPleura
COSM48859c.1153C>Tp.R385*Substitution - NonsenseEye
COSM1716576c.38-?_1890+?delp.?UnknownPleura
COSM3916386c.428G>Ap.S143NSubstitution - MissenseSkin
COSM4411449c.829C>Tp.Q277*Substitution - NonsenseKidney
COSM1046991c.1486G>Ap.A496TSubstitution - MissenseEndometrium
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM51991c.516C>Gp.S172RSubstitution - MissenseEye
COSM5757615c.?p.C91FSubstitution - MissenseKidney
COSM1235456c.568_569CC>Tp.P190fs*41Deletion - FrameshiftSkin
COSM51981c.2015A>Gp.D672GSubstitution - MissenseEye
COSM3392494c.1526C>Ap.S509*Substitution - NonsensePancreas
COSM3736947c.155G>Ap.W52*Substitution - NonsenseSkin
COSM480289c.509T>Gp.F170CSubstitution - MissenseKidney
COSM480282c.1881C>Gp.Y627*Substitution - NonsenseKidney
COSM249538c.299_315del17p.L100fs*20Deletion - FrameshiftKidney
COSM3993218c.580G>Ap.G194RSubstitution - MissenseKidney
COSM51993c.106C>Tp.Q36*Substitution - NonsenseEye
COSM480298c.1A>Gp.M1VSubstitution - MissenseKidney
COSM1309340c.1968G>Cp.K656NSubstitution - MissenseUrinary_tract
COSM1716573c.38-?_122+?delp.?UnknownPleura
COSM2853464c.1518A>Gp.P506PSubstitution - coding silentLarge_intestine
COSM4169842c.?p.E54*Substitution - NonsenseAdrenal_gland
COSM4991930c.103C>Tp.L35FSubstitution - MissenseSkin
COSM110820c.634_634delGp.E212fs*19Deletion - FrameshiftEye
COSM4171255c.1116G>Tp.Q372HSubstitution - MissenseHaematopoietic_and_lymphoid_tissue
COSM1717431c.?p.L35RSubstitution - MissenseBiliary_tract
COSM5880080c.?p.R385*Substitution - NonsenseMeninges
COSM5006578c.?p.?UnknownKidney
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM4665179c.449G>Ap.R150HSubstitution - MissenseLarge_intestine
COSM5611451c.40C>Tp.L14FSubstitution - MissensePleura
COSM1186313c.680G>Cp.R227PSubstitution - MissenseLung
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM52915c.573_580+15del8p.?UnknownEye
COSM5016009c.1984-3_1984delCAGAp.?UnknownKidney
COSM5702627c.?_?del?p.?UnknownEye
COSM1245948c.368G>Cp.S123TSubstitution - MissenseOesophagus
COSM1737972c.?p.L97PSubstitution - MissenseEye
COSM51992c.2080_2105del26p.Q694fs*14Deletion - FrameshiftEye
COSM243166c.508T>Gp.F170VSubstitution - MissenseProstate
COSM110721c.178C>Tp.R60*Substitution - NonsenseMeninges
COSM5399743c.1063C>Tp.Q355*Substitution - NonsenseSkin
COSM96361c.118C>Tp.Q40*Substitution - NonsenseKidney
COSM5702524c.161_167delAAGAGCGp.E54fs*16Deletion - FrameshiftEye
COSM5611459c.1301delAp.D434fs*137Deletion - FrameshiftPleura
COSM5599122c.819C>Tp.T273TSubstitution - coding silentSkin
COSM1716583c.2057-?_2190+?delp.?UnknownEye
COSM5781830c.755G>Ap.R252HSubstitution - MissenseBreast
COSM5702536c.1984-?_2056+?delp.?UnknownEye
COSM1753302c.505C>Tp.H169YSubstitution - MissenseUrinary_tract
COSM5025143c.1993C>Tp.Q665*Substitution - NonsenseEye
COSM4984799c.561_562insTGAAp.V188fs*1Insertion - FrameshiftOesophagus
COSM5508588c.359delAp.K120fs*67Deletion - FrameshiftBiliary_tract
COSM5006576c.?_?ins?p.?fs*?Insertion - FrameshiftKidney
COSM1716586c.1117-?_1250+?delp.?UnknownPleura
COSM5047036c.304A>Gp.N102DSubstitution - MissenseOesophagus
COSM96376c.966_978del13p.P324fs*7Deletion - FrameshiftPleura
COSM110726c.58G>Tp.E20*Substitution - NonsenseKidney
COSM2853451c.1939G>Tp.E647*Substitution - NonsensePleura
COSM1716584c.660-?_783+?delp.?UnknownPleura
COSM1666806c.518A>Gp.Y173CSubstitution - MissenseBiliary_tract
COSM2853478c.1120_1126delGAAGAAGp.E374fs*54Deletion - FrameshiftOesophagus
COSM5611441c.676_679delATCCp.I226fs*4Deletion - FrameshiftPleura
COSM110735c.1379C>Gp.S460*Substitution - NonsenseKidney
COSM5611461c.256-1G>Tp.?UnknownPleura
COSM584258c.535C>Tp.R179WSubstitution - MissenseKidney
COSM110803c.1497_1497delCp.I499fs*72Deletion - FrameshiftPleura
COSM1716585c.256-?_375+?delp.?UnknownPleura
COSM4387449c.37+1_37+7delGTGAGGAp.?UnknownEye
COSM110721c.178C>Tp.R60*Substitution - NonsenseBiliary_tract
COSM110802c.700_700delGp.V234fs*15Deletion - FrameshiftPleura
COSM50881c.781C>Tp.Q261*Substitution - NonsenseEye
COSM480290c.233A>Gp.N78SSubstitution - MissenseUpper_aerodigestive_tract
COSM51978c.757C>Tp.Q253*Substitution - NonsenseEye
COSM4169302c.?p.I87fs*71UnknownBiliary_tract
COSM1566693c.2149C>Tp.R717WSubstitution - MissenseLarge_intestine
COSM96360c.784-2A>Cp.?UnknownPleura
COSM110804c.1023_1023delCp.S341fs*21Deletion - FrameshiftPleura
COSM96358c.2050C>Tp.Q684*Substitution - NonsenseKidney
COSM422738c.430C>Ap.H144NSubstitution - MissenseKidney
COSM5006576c.?_?ins?p.?fs*?Insertion - FrameshiftKidney
COSM4770791c.1957G>Tp.E653*Substitution - NonsensePleura
COSM5559562c.1286T>Gp.L429WSubstitution - MissenseProstate
COSM5399740c.2014G>Ap.D672NSubstitution - MissenseSkin
COSM4387439c.1147C>Tp.R383CSubstitution - MissenseEye
COSM329084c.179G>Ap.R60QSubstitution - MissenseLarge_intestine
COSM1666806c.518A>Gp.Y173CSubstitution - MissenseEye
COSM1732051c.1558T>Cp.S520PSubstitution - MissenseKidney
COSM3736953c.2057-2delAp.?UnknownSkin
COSM4566725c.456_457CC>TTp.P153SSubstitution - MissenseSkin
COSM1169481c.2101C>Tp.R701CSubstitution - MissenseKidney
COSM51977c.588G>Ap.W196*Substitution - NonsenseEye
COSM5967206c.583_608del26p.P195fs*39Deletion - FrameshiftSalivary_gland
COSM307730c.283G>Cp.A95PSubstitution - MissenseKidney
COSM4387445c.1932_1948del17p.N645fs*13Deletion - FrameshiftEye
COSM1737978c.?p.D68GSubstitution - MissenseEye
COSM4387454c.438-2A>Gp.?UnknownEye
COSM4411453c.1557delCp.S520fs*51Deletion - FrameshiftKidney
COSM110733c.172_179delTCCCGGCGp.S58fs*8Deletion - FrameshiftEye
COSM423037c.2051delAp.Q684fs*8Deletion - FrameshiftKidney
COSM1660729c.152A>Tp.K51ISubstitution - MissenseKidney
COSM5490691c.544G>Tp.E182*Substitution - NonsenseBiliary_tract
COSM5880081c.?p.D663fs*?FrameshiftMeninges
COSM51976c.507C>Gp.H169QSubstitution - MissenseEye
COSM110818c.1_2190del2190p.0?Whole gene deletionPleura
COSM5611434c.40delCp.L14fs*58Deletion - FrameshiftPleura
COSM110721c.178C>Tp.R60*Substitution - NonsenseMeninges
COSM4429937c.1161_1162insCAp.V388fs*43Insertion - FrameshiftOesophagus
COSM340212c.419C>Tp.A140VSubstitution - MissenseLung
COSM480294c.67+1G>Ap.?UnknownEye
COSM3916385c.969C>Tp.A323ASubstitution - coding silentSkin
COSM1737974c.?p.P42SSubstitution - MissenseEye
COSM1716591c.1-?_122+?delp.?UnknownPleura
COSM1744862c.348_350delGGAp.K116_D117>NComplex - deletion inframeBiliary_tract
COSM345546c.404C>Gp.P135RSubstitution - MissenseLung
COSM480298c.1A>Gp.M1VSubstitution - MissenseKidney
COSM4387453c.123-2A>Tp.?UnknownEye
COSM110818c.1_2190del2190p.0?Whole gene deletionSalivary_gland
COSM96375c.354_354delCp.F118fs*69Deletion - FrameshiftPleura
COSM1169484c.239_239delTp.M80fs*7Deletion - FrameshiftKidney
COSM4665177c.1497C>Tp.I499ISubstitution - coding silentLarge_intestine
COSM4387423c.133G>Ap.G45RSubstitution - MissenseEye
COSM1716588c.1891-?_2056+?delp.?UnknownPleura
COSM5702517c.524C>Gp.P175RSubstitution - MissenseEye
COSM3775230c.1891G>Cp.E631QSubstitution - MissenseUrinary_tract
COSM4410937c.553G>Ap.G185RSubstitution - MissenseKidney
COSM1716571c.1891-?_2190+?delp.?UnknownPleura
COSM5021041c.1552C>Tp.R518WSubstitution - MissenseSoft_tissue
COSM243166c.508T>Gp.F170VSubstitution - MissenseLiver
COSM5471776c.1890+10C>Tp.?UnknownLarge_intestine
COSM51979c.845_853del9p.E283_S285delDeletion - In frameEye
COSM480296c.29G>Cp.S10TSubstitution - MissenseKidney
COSM249401c.851_858delAGTCCAAGp.E284fs*20Deletion - FrameshiftKidney
COSM5702527c.346_346delAp.K116fs*71Deletion - FrameshiftEye
COSM5702628c.256-1_256insGp.?UnknownEye
COSM52519c.376-9_416del50p.?UnknownEye
COSM5702537c.438-?_2056+?del?p.?UnknownEye
COSM5773803c.1224C>Tp.D408DSubstitution - coding silentBreast
COSM51989c.1891_1902del12p.E631_A634delDeletion - In frameEye
COSM1046988c.1856G>Ap.G619DSubstitution - MissenseEndometrium
COSM1169488c.1787_1806del20p.S597fs*39Deletion - FrameshiftKidney
COSM1753302c.505C>Tp.H169YSubstitution - MissenseUrinary_tract
COSM96366c.1937_1955del19p.Y646fs*3Deletion - FrameshiftPleura
COSM4387430c.335T>Gp.L112RSubstitution - MissenseEye
COSM4387442c.1729G>Cp.E577QSubstitution - MissenseEye
COSM5702518c.160_173del14p.E54fs*10Deletion - FrameshiftEye
COSM51984c.2188T>Ap.*730?Nonstop extensionEye
COSM4411436c.1231_1232insGAp.N411fs*20Insertion - FrameshiftKidney
COSM1651693c.660_783del124p.?UnknownEye
COSM110805c.2095_2096delCGp.R699fs*17Deletion - FrameshiftPleura
COSM1235382c.1717_1717delCp.L573fs*3Deletion - FrameshiftEye
COSM1617862c.1508delTp.F503fs*68Deletion - FrameshiftLiver
COSM3736946c.592G>Tp.E198*Substitution - NonsenseSkin
COSM96351c.512_512delTp.V171fs*16Deletion - FrameshiftPleura
COSM1169486c.2000G>Ap.R667KSubstitution - MissenseKidney
COSM1716580c.2057G>Ap.G686DSubstitution - MissensePleura
COSM5611444c.855_856insCp.K286fs*21Insertion - FrameshiftPleura
COSM423035c.1271_1274delGGAAp.K425fs*4Deletion - FrameshiftKidney
COSM5611425c.504_510delCCACTTTp.F168fs*17Deletion - FrameshiftPleura
COSM110722c.1768C>Tp.Q590*Substitution - NonsenseSkin
COSM5702538c.438-?_580+?del?p.?UnknownEye
COSM5607928c.627C>Tp.V209VSubstitution - coding silentSkin
COSM1245947c.1762C>Ap.P588TSubstitution - MissenseStomach
COSM4119063c.569C>Ap.P190HSubstitution - MissenseStomach
COSM5945800c.?p.H169fs*18FrameshiftPleura
COSM4949532c.92delAp.E31fs*41Deletion - FrameshiftLiver
COSM5945809c.784-1G>Tp.?UnknownPleura
COSM51980c.968_978del11p.A323fs*71Deletion - FrameshiftEye
COSM307185c.700_702delGTGp.V234delDeletion - In framePleura
COSM1235383c.790_790delAp.R264fs*2Deletion - FrameshiftEye
COSM1644424c.907G>Cp.A303PSubstitution - MissenseSalivary_gland
COSM3358468c.848delAp.E283fs*52Deletion - FrameshiftKidney
COSM4387452c.122+1G>Tp.?UnknownEye
COSM4533187c.1954G>Ap.E652KSubstitution - MissenseSkin
COSM307188c.1_375del375p.M1_E125delDeletion - In framePleura
COSM5945807c.?p.Y44*Substitution - NonsensePericardium
COSM422737c.335T>Cp.L112PSubstitution - MissenseKidney
COSM5789313c.755G>Cp.R252PSubstitution - MissenseBreast
COSM1716586c.1117-?_1250+?delp.?UnknownEye
COSM4387421c.82C>Tp.Q28*Substitution - NonsensePleura
COSM1666806c.518A>Gp.Y173CSubstitution - MissenseEye
> Text Mining based Variations
 
PMID Variation Cancer Evidence
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%).
28618948mutationUveal Melanoma; Clear Cell Renal Cell CarcinomaConsistently, BAP1 mutation was correlated with critical clinicopathological features only in uveal melanoma and clear cell renal cell carcinoma.
28594900mutationUveal MelanomaKnown recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1.
28551647mutationUveal Melanoma; Malignant Mesothelioma; Cutaneous MelanomaGermline mutations of the oncosuppressor gene breast cancer 1-associated protein 1 (BAP1) were recently related to an autosomal-dominant tumor predisposition syndrome (BAP1-TPDS), characterized by uveal melanoma, malignant mesothelioma (MM), cutaneous melanoma, and other malignancies.
28488170loss of expression (mutation)Renal Cell CarcinomaMutations that cause loss of expression of BAP1 frequently occur in primary clear cell renal carcinoma (ccRCC).
28459210mutationClear Cell Renal Cell CarcinomaOur results indicated that urothelial carcinoma-associated 1 overexpression was associated with male ( p = 0.003), wild-type PBRM1 ( p = 0.021), and BAP1 mutation ( p = 0.022) in clear cell renal cell carcinoma, although lower expression was found in tumors compared with normal controls, validated in tumor tissues from The Cancer Genome Atlas and 21 clear cell renal cell carcinoma patients at our hospital.
28409567mutationMelanoma Arising from Blue NevusEIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively).
28408295mutationClear Cell Renal Cell CarcinomaFive commonly mutated genes were chosen for analysis: VHL, PBRM1, BAP1, SETD2, and KDM5C.
28389374mutationPleural Malignant MesotheliomaBAP1 mutations are frequent in malignant pleural mesothelioma (MPM).
28342657mutationPleural Malignant MesotheliomaBAP1 mutations are present in 47-67% of the MPM tumors, making this a good target for treatment.
28327121mutationClear Cell Renal Cell CarcinomaBAP1 and PBRM1 are frequently mutated in primary clear cell renal cell carcinoma (ccRCC) tumors; however, the frequency and clinical relevance of these mutations in metastatic ccRCC tumors is unknown.
28062663mutationUveal Melanoma; Mesothelioma; Meningioma; Renal Cell Carcinoma; Skin Basal Cell CarcinomaGermline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma.
27834213mutationMalignant MesotheliomaWe used a custom-made comparative genomic hybridization array (aCGH; average probe interval 254 bp) to screen 33 malignant mesothelioma (MM) biopsies for somatic copy number loss throughout the 3p21 region (10.7 Mb) that harbors 251 genes, including BRCA1 (breast cancer 1)-associated protein 1 (BAP1), the most commonly mutated gene in MM.
27813512mutationPeritoneal Mesothelioma; Pleural MesotheliomaWhile these genes are known to be recurrently mutated in pleural mesotheliomas, the frequencies are distinct in peritoneal mesotheliomas, with nearly 85% of peritoneal tumors harboring BAP1 alterations versus only 20-30% of pleural tumors.
27718540mutationUveal MelanomaCombined with published studies, the frequency of BAP1 mutations was 14/64 (22%) in FUM.
27745836mutationUveal MelanomaRecurrent coding mutations were found in the known UM drivers GNAQ, GNA11, BAP1, EIF1AX, and SF3B1.
27751729MutationRenal Cell CarcinomaPrevalent mutations (≥ 10%) were VHL (75%), PBRM1 (46%), SETD2 (30%), BAP1 (19%), KDM5C (15%), and PTEN (12%).
27718540MutationUveal MelanomaGermline BAP1 mutations were found in 6/32 (19%) families.
27713405MutationRenal Cell CarcinomaWe identify recurrent somatic mutations in 29 genes, including NF2 (18%), SETD2 (18%), BAP1 (13%), KMT2C (10%) and MTOR (8%).
27660484MutationUveal MelanomaThe most frequent ones are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. In many cases, mutations in these genes appear in a mutually exclusive manner, have different risk of metastasis, and are consequently of prognostic importance.
27563445MutationCholangiocarcinomaTwenty-two cases of BAP1-mutation associated CCA were diagnosed from January 1, 2009, to February 1, 2015, at our center. BAP1 mutation in CCA may be associated with aggressive disease and poor response to standard therapies.
27187383MutationMalignant Peritoneal MesotheliomaA search of the Catalogue of Somatic Mutations in Cancer (COSMIC) database also revealed that 53.2% of mutations in BAP1 were frameshift indels with neo-peptide formation.
27123562MutationUveal MelanomaBAP1 mutations were identified in 29 of 64 (45%), GNAQ mutations in 36 of 81 (44%), GNA11 mutations in 36 of 81 (44%), SF3B1 mutations in 19 of 81 (24%), and EIF1AX mutations in 14 of 81 (17%).
26744134MutationUveal MelanomaMetastasized uveal melanomas exhibited mutations in GNAQ, GNA11 and BAP1.
26719535MutationMalignant MesotheliomaNo BAP1 alterations were found in control cohorts, but were identified in nine of 150 mesothelioma cases (6%) with a family history of cancer. Alterations among these cases were characterized by both missense and frameshift mutations, and enzymatic activity of BAP1 missense mutants was decreased compared with wild-type BAP1.
26709801MutationIntrahepatic CholangiocarcinomasComprehensive mutational profiling studies identified IDH1/2 and BAP1 as characteristic of intrahepatic cholangiocarcinomas, while extrahepatic cholangiocarcinomas and gallbladder carcinomas were characterized by frequent KRAS and TP53 alterations.
26484545MutationRenal Cell CarcinomaMutation of BAP1 had previously been significantly associated with poorer overall survival; however, when stratified by gender, mutation of BAP1 only significantly affected overall survival in female patients.
26246155MutationMalignant MesotheliomaWe found five tumors with partial deletion of BAP1 gene; each tumors displayed partial deletion of exons 1-4 (MM39), exons 1-5 (MM48), exons 11-17 (MM57), exons 1-15 (MM19) and exons 1-16 (MM21). Therefore, MLPA analysis revealed large gene rearrangements of BAP1 gene in 65% of MM (11/17).
26166446MutationRenal cell carcinomaBAP1- or SETD2-mutated ccRCCs have been associated with poor overall survival, while PBRM1 mutations seem to identify a favorable group of ccRCC tumors.
25889843copy number loss; mutationMalignant Peritoneal MesotheliomaFinally, with targeted sequencing of BAP1 in 3 additional cases, we conclude that BAP1 is frequently altered through copy number losses (N=3/12), mutations (N=3/12) or both (N=2/12) sometimes at a sub-clonal level.
25658628Loss of Expression; mutationMalignant mesotheliomaIHC revealed loss of BAP1 nuclear staining in 47 of these 70 MM biopsies (67.1%). Our findings conclusively establish BAP1 as the most commonly mutated gene in MM, regardless of ethnic background or other clinical characteristics.
25521456Mutation Cutaneous MelanomaGenetic depletion of BAP1 in melanoma cells reduced proliferation and colony-forming capability, induced apoptosis, and inhibited melanoma tumor growth in vivo.
25488749MutationMalignant Pleural MesotheliomaIntegrative analysis of mutations and somatic copy-number alterations revealed frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1.
24867389MutationIntrahepatic CholangiocarcinomasIDH1/2 (p=0.0005) and BAP1 (p=0.0097) mutations were characteristic of ICC, while KRAS (p=0.0019) and TP53 (p=0.0019) were more frequent in ECC and GBC.
24633195 Loss of Expression; MutationUveal MelanomaBAP1 staining was absent in 43% of the cases. Patients with a BAP1 mutation and absent BAP1 expression had an almost eightfold higher chance of developing metastases compared with those without these changes (P=0.002).
24187051MutationUveal MelanomaThis suggests that, consistent with a classic tumour suppressor model, carriers of damaging mutations in BAP1 are predisposed to UM.
24166983MutationRenal Cell CarcinomaBAP1-mutated tumors were associated with metastatic disease at presentation (P=0.023), advanced clinical stage (P=0.042) and a trend towards shorter recurrence free survival (P=0.059) when compared with tumors exclusively mutated for PBRM1.
23333114MutationRenal Cell CarcinomaWe discovered that BAP1 is mutated in about 15% of clear-cell renal-cell carcinoma, and that BAP1 and PBRM1 mutations are largely mutually exclusive.
22935333MutationMalignant mesothelioma; uveal melanoma; cutaneous melanomaMalignant mesothelioma, uveal melanoma, cutaneous melanoma, and MBAITs prevalence was significantly higher in the BAP1-mutated cohort (p ≤ 0.001).
22321046MutationMalignant MesotheliomaAll but one of the 14 BAP1 gene mutations were found in the epithelioid-type MMs; BAP1 mutations were found in 13 of 16 epithelioid-type MMs, but in only one of seven non-epithelioid-type MMs (13/16 vs 1/7; P = 0.005).
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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
Q92560369SPhosphoserine-NoNone detected
Q92560395SPhosphoserine-NoNone detected
Q92560521SPhosphoserine-NoNone detected
Q92560537SPhosphoserine-NoNone detected
Q92560585SPhosphoserine-NoNone detected
Q92560597SPhosphoserine-NoNone detected
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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 carcinoma194086.3446.4420.0250.868NS
BRCABreast invasive carcinoma11211006.2256.3840.1430.000686NS
CESCCervical and endocervical cancers33066.4886.497NANANA
COADColon adenocarcinoma414596.5696.428-0.10.141NS
ESCAEsophageal carcinoma111856.2576.157-0.160.392NS
GBMGlioblastoma multiforme51667.7296.909NANANA
HNSCHead and Neck squamous cell carcinoma445226.5976.494-0.0730.319NS
KIRCKidney renal clear cell carcinoma725346.4415.94-0.452.96e-15NS
KIRPKidney renal papillary cell carcinoma322916.7626.8330.0240.848NS
LAMLAcute Myeloid Leukemia0173NA6.662NANANA
LGGBrain Lower Grade Glioma0530NA7.111NANANA
LIHCLiver hepatocellular carcinoma503735.7086.1830.3994.33e-05NS
LUADLung adenocarcinoma595176.2716.237-0.0620.272NS
LUSCLung squamous cell carcinoma515016.2726.4580.2080.00394NS
OVOvarian serous cystadenocarcinoma0307NA6.567NANANA
PAADPancreatic adenocarcinoma41796.4186.223NANANA
PCPGPheochromocytoma and Paraganglioma31846.9296.544NANANA
PRADProstate adenocarcinoma524986.3056.5450.2592.83e-09NS
READRectum adenocarcinoma101676.3546.5210.180.239NS
SARCSarcoma22636.6536.714NANANA
SKCMSkin Cutaneous Melanoma14726.4317.064NANANA
STADStomach adenocarcinoma354156.2065.975-0.1870.0203NS
TGCTTesticular Germ Cell Tumors0156NA6.57NANANA
THCAThyroid carcinoma595096.4186.344-0.0210.633NS
THYMThymoma21206.946.836NANANA
UCECUterine Corpus Endometrial Carcinoma355466.3986.470.1680.0387NS
> Cancer Cell Line Encyclopedia (CCLE)
 



Tissue Cell Line Expression Level (Microarray)
Autonomic ganglia CHP126 8
Autonomic ganglia CHP212 7.6
Autonomic ganglia IMR32 7.9
Autonomic ganglia KELLY 7.7
Autonomic ganglia KPNRTBM1 8
Autonomic ganglia KPNSI9S 7.1
Autonomic ganglia KPNYN 7.5
Autonomic ganglia MHHNB11 7.6
Autonomic ganglia NB1 8
Autonomic ganglia NH6 7.4
Autonomic ganglia SHSY5Y 7.7
Autonomic ganglia SIMA 7.8
Autonomic ganglia SKNAS 7
Autonomic ganglia SKNBE2 6.8
Autonomic ganglia SKNDZ 7.3
Autonomic ganglia SKNFI 7.6
Autonomic ganglia SKNSH 7.1
Biliary tract HUCCT1 7.4
Biliary tract HUH28 7.4
Biliary tract SNU1079 7.1
Biliary tract SNU1196 7.8
Biliary tract SNU245 7.3
Biliary tract SNU308 8.4
Biliary tract SNU478 7.6
Bone 143B 7.7
Bone A673 6.7
Bone CADOES1 7.9
Bone CAL78 7.4
Bone G292CLONEA141B1 7.8
Bone HOS 7.4
Bone HS706T 7.3
Bone HS737T 7
Bone HS819T 6.7
Bone HS821T 7.6
Bone HS822T 6.9
Bone HS863T 7.6
Bone HS870T 6.7
Bone HS888T 7.5
Bone MG63 6.6
Bone MHHES1 6.6
Bone OUMS27 7.4
Bone RDES 7.5
Bone SJSA1 6.9
Bone SKES1 7.4
Bone SKNMC 7.1
Bone SW1353 7.6
Bone T173 6.9
Bone TC71 6.9
Bone U2OS 8
Breast AU565 6.2
Breast BT20 7.3
Breast BT474 7
Breast BT483 7.2
Breast BT549 8.3
Breast CAL120 7.7
Breast CAL148 8.3
Breast CAL51 7.9
Breast CAL851 6.5
Breast CAMA1 6.7
Breast DU4475 7.1
Breast EFM192A 7.2
Breast EFM19 7.3
Breast EVSAT 7.3
Breast HCC1143 6.7
Breast HCC1187 5.6
Breast HCC1395 8.2
Breast HCC1419 7.7
Breast HCC1428 7.4
Breast HCC1500 7.2
Breast HCC1569 7.6
Breast HCC1599 7.9
Breast HCC1806 6.5
Breast HCC1937 7.5
Breast HCC1954 7.1
Breast HCC202 7.2
Breast HCC2157 7.7
Breast HCC2218 6.8
Breast HCC38 7
Breast HCC70 7
Breast HDQP1 7
Breast HMC18 7.8
Breast HS274T 7.4
Breast HS281T 7.3
Breast HS343T 7.5
Breast HS578T 7.7
Breast HS606T 6.9
Breast HS739T 7
Breast HS742T 6.9
Breast JIMT1 7.9
Breast KPL1 6.9
Breast MCF7 6.4
Breast MDAMB134VI 6.4
Breast MDAMB157 7.4
Breast MDAMB175VII 7
Breast MDAMB231 8
Breast MDAMB361 7.3
Breast MDAMB415 6.4
Breast MDAMB436 7.5
Breast MDAMB453 8
Breast MDAMB468 7.3
Breast SKBR3 6.2
Breast T47D 7
Breast UACC812 7.6
Breast UACC893 7.3
Breast YMB1 7.1
Breast ZR751 6.7
Breast ZR7530 7.5
Central nervous system 1321N1 7.9
Central nervous system 42MGBA 7.5
Central nervous system 8MGBA 7
Central nervous system A172 7.8
Central nervous system AM38 7.3
Central nervous system BECKER 7.1
Central nervous system CAS1 7.8
Central nervous system CCFSTTG1 6.8
Central nervous system D283MED 7.9
Central nervous system D341MED 7.2
Central nervous system DAOY 6.8
Central nervous system DBTRG05MG 7.2
Central nervous system DKMG 6.7
Central nervous system GAMG 7.7
Central nervous system GB1 8.9
Central nervous system GI1 7.4
Central nervous system GMS10 7.7
Central nervous system GOS3 7.9
Central nervous system H4 7.5
Central nervous system HS683 7.4
Central nervous system KALS1 7.5
Central nervous system KG1C 7.5
Central nervous system KNS42 7.8
Central nervous system KNS60 7
Central nervous system KNS81 7.4
Central nervous system KS1 7.3
Central nervous system LN18 8.3
Central nervous system LN229 7.7
Central nervous system M059K 7
Central nervous system MOGGCCM 7.8
Central nervous system MOGGUVW 7.5
Central nervous system NMCG1 7.3
Central nervous system ONS76 7.1
Central nervous system SF126 7.3
Central nervous system SF295 8
Central nervous system SNB19 8.3
Central nervous system SNU1105 8
Central nervous system SNU201 8.2
Central nervous system SNU466 7.9
Central nervous system SNU489 9
Central nervous system SNU626 7.2
Central nervous system SNU738 7.2
Central nervous system SW1088 8
Central nervous system SW1783 7.2
Central nervous system T98G 7.8
Central nervous system TM31 8.1
Central nervous system U118MG 8.6
Central nervous system U138MG 8.3
Central nervous system U251MG 8
Central nervous system U87MG 8.1
Central nervous system YH13 8.1
Central nervous system YKG1 7.4
Endometrium AN3CA 7.8
Endometrium COLO684 8.3
Endometrium EFE184 7.1
Endometrium EN 7.9
Endometrium ESS1 7.5
Endometrium HEC108 6.9
Endometrium HEC151 6.9
Endometrium HEC1A 8.2
Endometrium HEC1B 8
Endometrium HEC251 6.6
Endometrium HEC265 6.9
Endometrium HEC50B 7.1
Endometrium HEC59 7.1
Endometrium HEC6 7.2
Endometrium ISHIKAWAHERAKLIO02ER 7
Endometrium JHUEM1 7.4
Endometrium JHUEM2 7.8
Endometrium JHUEM3 7.7
Endometrium KLE 7.2
Endometrium MFE280 7
Endometrium MFE296 8.1
Endometrium MFE319 7.4
Endometrium RL952 7.3
Endometrium SNGM 7.2
Endometrium SNU1077 6.8
Endometrium SNU685 7.4
Endometrium TEN 8
Haematopoietic and lymphoid 697 8.1
Haematopoietic and lymphoid A3KAW 7.4
Haematopoietic and lymphoid A4FUK 7.6
Haematopoietic and lymphoid ALLSIL 8.9
Haematopoietic and lymphoid AML193 8.4
Haematopoietic and lymphoid AMO1 8.1
Haematopoietic and lymphoid BCP1 8
Haematopoietic and lymphoid BDCM 7.3
Haematopoietic and lymphoid BL41 8.2
Haematopoietic and lymphoid BL70 7.8
Haematopoietic and lymphoid BV173 8
Haematopoietic and lymphoid CA46 7.3
Haematopoietic and lymphoid CI1 7.7
Haematopoietic and lymphoid CMK115 7.8
Haematopoietic and lymphoid CMK86 8.6
Haematopoietic and lymphoid CMK 8.2
Haematopoietic and lymphoid CMLT1 8.1
Haematopoietic and lymphoid COLO775 8.8
Haematopoietic and lymphoid DAUDI 7.6
Haematopoietic and lymphoid DB 7.3
Haematopoietic and lymphoid DEL 7.9
Haematopoietic and lymphoid DND41 8.5
Haematopoietic and lymphoid DOHH2 8
Haematopoietic and lymphoid EB1 7.5
Haematopoietic and lymphoid EB2 7.6
Haematopoietic and lymphoid EHEB 7.6
Haematopoietic and lymphoid EJM 8.2
Haematopoietic and lymphoid EM2 8.4
Haematopoietic and lymphoid EOL1 8.2
Haematopoietic and lymphoid F36P 7.5
Haematopoietic and lymphoid GA10 7.7
Haematopoietic and lymphoid GDM1 7.8
Haematopoietic and lymphoid GRANTA519 7.1
Haematopoietic and lymphoid HDLM2 7.6
Haematopoietic and lymphoid HDMYZ 7.3
Haematopoietic and lymphoid HEL9217 7.7
Haematopoietic and lymphoid HEL 8.1
Haematopoietic and lymphoid HH 7.7
Haematopoietic and lymphoid HL60 8.5
Haematopoietic and lymphoid HPBALL 7.3
Haematopoietic and lymphoid HS604T 7.1
Haematopoietic and lymphoid HS611T 7.4
Haematopoietic and lymphoid HS616T 7.1
Haematopoietic and lymphoid HS751T 6.4
Haematopoietic and lymphoid HT 7.9
Haematopoietic and lymphoid HTK 8.2
Haematopoietic and lymphoid HUNS1 7.6
Haematopoietic and lymphoid HUT102 7.6
Haematopoietic and lymphoid HUT78 7.6
Haematopoietic and lymphoid JEKO1 8.6
Haematopoietic and lymphoid JK1 8.2
Haematopoietic and lymphoid JM1 7.9
Haematopoietic and lymphoid JURKAT 8.9
Haematopoietic and lymphoid JURLMK1 7.8
Haematopoietic and lymphoid JVM2 7.3
Haematopoietic and lymphoid JVM3 7.7
Haematopoietic and lymphoid K562 7.3
Haematopoietic and lymphoid KARPAS299 7.6
Haematopoietic and lymphoid KARPAS422 7.4
Haematopoietic and lymphoid KARPAS620 7.2
Haematopoietic and lymphoid KASUMI1 6.7
Haematopoietic and lymphoid KASUMI2 7.9
Haematopoietic and lymphoid KASUMI6 8.2
Haematopoietic and lymphoid KCL22 7.7
Haematopoietic and lymphoid KE37 9
Haematopoietic and lymphoid KE97 7.3
Haematopoietic and lymphoid KG1 7.7
Haematopoietic and lymphoid KHM1B 7.4
Haematopoietic and lymphoid KIJK 7.9
Haematopoietic and lymphoid KMH2 7.4
Haematopoietic and lymphoid KMM1 8
Haematopoietic and lymphoid KMS11 7.2
Haematopoietic and lymphoid KMS12BM 7.8
Haematopoietic and lymphoid KMS18 7.9
Haematopoietic and lymphoid KMS20 8.2
Haematopoietic and lymphoid KMS21BM 7.3
Haematopoietic and lymphoid KMS26 7.2
Haematopoietic and lymphoid KMS27 7.5
Haematopoietic and lymphoid KMS28BM 7.2
Haematopoietic and lymphoid KMS34 7.7
Haematopoietic and lymphoid KO52 7.5
Haematopoietic and lymphoid KOPN8 8.6
Haematopoietic and lymphoid KU812 7.9
Haematopoietic and lymphoid KYO1 8.4
Haematopoietic and lymphoid L1236 8.1
Haematopoietic and lymphoid L363 8.6
Haematopoietic and lymphoid L428 7.8
Haematopoietic and lymphoid L540 8
Haematopoietic and lymphoid LAMA84 7.8
Haematopoietic and lymphoid LOUCY 7.7
Haematopoietic and lymphoid LP1 8
Haematopoietic and lymphoid M07E 8.2
Haematopoietic and lymphoid MC116 7.7
Haematopoietic and lymphoid ME1 8.2
Haematopoietic and lymphoid MEC1 7.4
Haematopoietic and lymphoid MEC2 8
Haematopoietic and lymphoid MEG01 7.7
Haematopoietic and lymphoid MHHCALL2 7.9
Haematopoietic and lymphoid MHHCALL3 8.1
Haematopoietic and lymphoid MHHCALL4 8
Haematopoietic and lymphoid MINO 7.6
Haematopoietic and lymphoid MJ 7.7
Haematopoietic and lymphoid MM1S 8.1
Haematopoietic and lymphoid MOLM13 7.9
Haematopoietic and lymphoid MOLM16 8.2
Haematopoietic and lymphoid MOLM6 7.9
Haematopoietic and lymphoid MOLP2 7.9
Haematopoietic and lymphoid MOLP8 7.2
Haematopoietic and lymphoid MOLT13 8.4
Haematopoietic and lymphoid MOLT16 8.7
Haematopoietic and lymphoid MOLT4 8.4
Haematopoietic and lymphoid MONOMAC1 8.1
Haematopoietic and lymphoid MONOMAC6 8.2
Haematopoietic and lymphoid MOTN1 8.2
Haematopoietic and lymphoid MUTZ5 7.8
Haematopoietic and lymphoid MV411 8.5
Haematopoietic and lymphoid NALM19 8.4
Haematopoietic and lymphoid NALM1 7.9
Haematopoietic and lymphoid NALM6 8.4
Haematopoietic and lymphoid NAMALWA 7.6
Haematopoietic and lymphoid NB4 8.2
Haematopoietic and lymphoid NCIH929 7.5
Haematopoietic and lymphoid NCO2 7.1
Haematopoietic and lymphoid NOMO1 7.9
Haematopoietic and lymphoid NUDHL1 8.1
Haematopoietic and lymphoid NUDUL1 8
Haematopoietic and lymphoid OCIAML2 7.6
Haematopoietic and lymphoid OCIAML3 8.2
Haematopoietic and lymphoid OCIAML5 7.9
Haematopoietic and lymphoid OCILY10 7.5
Haematopoietic and lymphoid OCILY19 8.4
Haematopoietic and lymphoid OCILY3 7.7
Haematopoietic and lymphoid OCIM1 8
Haematopoietic and lymphoid OPM2 8
Haematopoietic and lymphoid P12ICHIKAWA 9
Haematopoietic and lymphoid P31FUJ 7
Haematopoietic and lymphoid P3HR1 7.5
Haematopoietic and lymphoid PCM6 8.6
Haematopoietic and lymphoid PEER 8.1
Haematopoietic and lymphoid PF382 8.4
Haematopoietic and lymphoid PFEIFFER 7.7
Haematopoietic and lymphoid PL21 7.9
Haematopoietic and lymphoid RAJI 7.6
Haematopoietic and lymphoid RCHACV 7.7
Haematopoietic and lymphoid REC1 7.5
Haematopoietic and lymphoid REH 7.1
Haematopoietic and lymphoid RI1 7.7
Haematopoietic and lymphoid RL 7.7
Haematopoietic and lymphoid RPMI8226 7.5
Haematopoietic and lymphoid RPMI8402 8.8
Haematopoietic and lymphoid RS411 7.8
Haematopoietic and lymphoid SEM 7.7
Haematopoietic and lymphoid SET2 8.5
Haematopoietic and lymphoid SIGM5 8.4
Haematopoietic and lymphoid SKM1 7.9
Haematopoietic and lymphoid SKMM2 8.1
Haematopoietic and lymphoid SR786 7.7
Haematopoietic and lymphoid ST486 7
Haematopoietic and lymphoid SUDHL10 8.1
Haematopoietic and lymphoid SUDHL1 7.9
Haematopoietic and lymphoid SUDHL4 8.1
Haematopoietic and lymphoid SUDHL5 8.2
Haematopoietic and lymphoid SUDHL6 7.6
Haematopoietic and lymphoid SUDHL8 7.7
Haematopoietic and lymphoid SUPB15 7.7
Haematopoietic and lymphoid SUPHD1 7.9
Haematopoietic and lymphoid SUPM2 6.8
Haematopoietic and lymphoid SUPT11 8.6
Haematopoietic and lymphoid SUPT1 7.9
Haematopoietic and lymphoid TALL1 8.2
Haematopoietic and lymphoid TF1 7.9
Haematopoietic and lymphoid THP1 7.9
Haematopoietic and lymphoid TO175T 7.2
Haematopoietic and lymphoid TOLEDO 7.7
Haematopoietic and lymphoid U266B1 8
Haematopoietic and lymphoid U937 8
Haematopoietic and lymphoid UT7 7.4
Haematopoietic and lymphoid WSUDLCL2 7.7
Kidney 769P 6.9
Kidney 786O 7.7
Kidney A498 7.6
Kidney A704 6
Kidney ACHN 7.6
Kidney BFTC909 8.2
Kidney CAKI1 7.2
Kidney CAKI2 7.1
Kidney CAL54 7.9
Kidney KMRC1 6.5
Kidney KMRC20 6.8
Kidney KMRC2 6.8
Kidney KMRC3 6.3
Kidney OSRC2 6.7
Kidney RCC10RGB 7
Kidney SNU1272 6.9
Kidney SNU349 7.1
Kidney TUHR10TKB 7.2
Kidney TUHR14TKB 5.8
Kidney TUHR4TKB 6.7
Kidney VMRCRCW 5.7
Kidney VMRCRCZ 6.9
Large intestine C2BBE1 7.4
Large intestine CCK81 7.6
Large intestine CL11 7.8
Large intestine CL14 7.7
Large intestine CL34 7.2
Large intestine CL40 7.8
Large intestine COLO205 7
Large intestine COLO320 7.9
Large intestine COLO678 7.8
Large intestine CW2 7.9
Large intestine DLD1 7.5
Large intestine GP2D 6.9
Large intestine HCC56 7
Large intestine HCT116 7.4
Large intestine HCT15 7.5
Large intestine HS675T 7.3
Large intestine HS698T 7.4
Large intestine HT115 7.8
Large intestine HT29 6.9
Large intestine HT55 6.9
Large intestine KM12 7.4
Large intestine LOVO 6.9
Large intestine LS1034 7.3
Large intestine LS123 7.5
Large intestine LS180 7.6
Large intestine LS411N 7.1
Large intestine LS513 6.2
Large intestine MDST8 7.5
Large intestine NCIH508 7.2
Large intestine NCIH716 7.3
Large intestine NCIH747 6.7
Large intestine OUMS23 6.9
Large intestine RCM1 7.3
Large intestine RKO 7.4
Large intestine SKCO1 6.3
Large intestine SNU1040 8
Large intestine SNU1197 7.1
Large intestine SNU175 7.3
Large intestine SNU283 7.7
Large intestine SNU407 7.5
Large intestine SNU503 7.3
Large intestine SNU61 7.6
Large intestine SNU81 7.8
Large intestine SNUC1 7.3
Large intestine SNUC2A 5.9
Large intestine SNUC4 7.6
Large intestine SNUC5 7.7
Large intestine SW1116 6.4
Large intestine SW1417 7.2
Large intestine SW1463 7.5
Large intestine SW403 7.1
Large intestine SW480 7.6
Large intestine SW48 7.5
Large intestine SW620 7.5
Large intestine SW837 6
Large intestine SW948 7.3
Large intestine T84 7.4
Liver ALEXANDERCELLS 6.9
Liver C3A 7.4
Liver HEP3B217 6.9
Liver HEPG2 7.7
Liver HLE 7.3
Liver HLF 7.1
Liver HUH1 7.5
Liver HUH6 7.9
Liver HUH7 7.1
Liver JHH1 7
Liver JHH2 7.3
Liver JHH4 7.2
Liver JHH5 7.3
Liver JHH6 6.8
Liver JHH7 7.2
Liver LI7 7.4
Liver PLCPRF5 6.8
Liver SKHEP1 6.7
Liver SNU182 7.6
Liver SNU387 7.4
Liver SNU398 7.8
Liver SNU423 7.6
Liver SNU449 7.7
Liver SNU475 7
Liver SNU761 7.6
Liver SNU878 7.6
Liver SNU886 8.2
Lung A549 6.8
Lung ABC1 7.4
Lung BEN 6.5
Lung CAL12T 6.7
Lung CALU1 7.4
Lung CALU3 7.1
Lung CALU6 7.5
Lung CHAGOK1 6.1
Lung COLO668 7.5
Lung COLO699 8.5
Lung CORL105 7.1
Lung CORL23 7.6
Lung CORL24 6.3
Lung CORL279 7.5
Lung CORL311 6.8
Lung CORL47 6.4
Lung CORL51 6.1
Lung CORL88 6.6
Lung CORL95 6.8
Lung CPCN 6.6
Lung DMS114 7.8
Lung DMS153 6.2
Lung DMS273 7.2
Lung DMS454 5.3
Lung DMS53 6.1
Lung DMS79 6.9
Lung DV90 7.4
Lung EBC1 7.1
Lung EPLC272H 6.9
Lung HARA 7.9
Lung HCC1171 7.7
Lung HCC1195 6.9
Lung HCC15 6.8
Lung HCC2279 8.3
Lung HCC2935 6.9
Lung HCC33 7.4
Lung HCC366 6.4
Lung HCC4006 6.7
Lung HCC44 6.8
Lung HCC78 6.9
Lung HCC827 7.2
Lung HCC95 6.4
Lung HLC1 8.1
Lung HLFA 7.1
Lung HS229T 7.5
Lung HS618T 7.3
Lung IALM 7.3
Lung KNS62 7.5
Lung LC1F 6.9
Lung LC1SQSF 6.4
Lung LCLC103H 7.7
Lung LCLC97TM1 7.6
Lung LK2 7.3
Lung LOUNH91 7.3
Lung LU65 7.1
Lung LU99 7.9
Lung LUDLU1 6.9
Lung LXF289 7.9
Lung MORCPR 7.4
Lung NCIH1048 7.3
Lung NCIH1092 6.4
Lung NCIH1105 6.3
Lung NCIH1155 7.4
Lung NCIH1184 7.3
Lung NCIH1299 7.9
Lung NCIH1339 7.1
Lung NCIH1341 7.2
Lung NCIH1355 7.4
Lung NCIH1373 6.6
Lung NCIH1385 6.8
Lung NCIH1395 6.8
Lung NCIH1435 6.8
Lung NCIH1436 6.1
Lung NCIH1437 7.4
Lung NCIH146 7.1
Lung NCIH1563 7.8
Lung NCIH1568 6.9
Lung NCIH1573 6.7
Lung NCIH1581 7.8
Lung NCIH1618 6.6
Lung NCIH1623 7.4
Lung NCIH1648 7.2
Lung NCIH1650 7.9
Lung NCIH1651 6.8
Lung NCIH1666 6.7
Lung NCIH1693 6.3
Lung NCIH1694 6.5
Lung NCIH1703 7
Lung NCIH1734 7
Lung NCIH1755 7.3
Lung NCIH1781 7.3
Lung NCIH1792 7.3
Lung NCIH1793 7.9
Lung NCIH1836 6.9
Lung NCIH1838 6.6
Lung NCIH1869 7.5
Lung NCIH1876 6.6
Lung NCIH1915 7.4
Lung NCIH1930 6.8
Lung NCIH1944 7.2
Lung NCIH1963 6.9
Lung NCIH196 7.1
Lung NCIH1975 7.7
Lung NCIH2009 7.3
Lung NCIH2023 6.8
Lung NCIH2029 6.9
Lung NCIH2030 7.5
Lung NCIH2066 6.7
Lung NCIH2081 6.4
Lung NCIH2085 7.3
Lung NCIH2087 7.2
Lung NCIH209 6.9
Lung NCIH2106 8
Lung NCIH2110 6.2
Lung NCIH211 7
Lung NCIH2122 7
Lung NCIH2126 6.7
Lung NCIH2141 7.3
Lung NCIH2170 7.4
Lung NCIH2171 6.9
Lung NCIH2172 6.2
Lung NCIH2196 6.9
Lung NCIH2227 7.3
Lung NCIH2228 6.8
Lung NCIH226 5.4
Lung NCIH2286 6.9
Lung NCIH2291 7.8
Lung NCIH2342 6.7
Lung NCIH2347 7.3
Lung NCIH23 7.3
Lung NCIH2405 6.9
Lung NCIH2444 6.7
Lung NCIH292 8.1
Lung NCIH322 6.8
Lung NCIH3255 7.4
Lung NCIH358 7.6
Lung NCIH441 7.1
Lung NCIH446 7.1
Lung NCIH460 7.2
Lung NCIH510 6.7
Lung NCIH520 7.3
Lung NCIH522 7.6
Lung NCIH524 7.6
Lung NCIH526 8.7
Lung NCIH596 6.7
Lung NCIH647 6.3
Lung NCIH650 7
Lung NCIH661 7.3
Lung NCIH69 6.8
Lung NCIH727 6.8
Lung NCIH810 6.6
Lung NCIH82 7.9
Lung NCIH838 7.1
Lung NCIH841 7.2
Lung NCIH854 6.9
Lung NCIH889 7
Lung PC14 7.2
Lung RERFLCAD1 6.8
Lung RERFLCAD2 6.7
Lung RERFLCAI 8
Lung RERFLCKJ 6.7
Lung RERFLCMS 7
Lung RERFLCSQ1 7.2
Lung SBC5 7.2
Lung SCLC21H 6.2
Lung SHP77 7.8
Lung SKLU1 7.9
Lung SKMES1 7
Lung SQ1 7.8
Lung SW1271 7.5
Lung SW1573 7.2
Lung SW900 7.3
Lung VMRCLCD 6.9
Lung VMRCLCP 7.5
Oesophagus COLO680N 7.3
Oesophagus ECGI10 6.9
Oesophagus KYSE140 7.5
Oesophagus KYSE150 8.1
Oesophagus KYSE180 7.8
Oesophagus KYSE270 6.5
Oesophagus KYSE30 7
Oesophagus KYSE410 6.9
Oesophagus KYSE450 7.3
Oesophagus KYSE510 7.2
Oesophagus KYSE520 7
Oesophagus KYSE70 8.3
Oesophagus OE19 7.3
Oesophagus OE33 6.2
Oesophagus TE10 7.4
Oesophagus TE11 7.3
Oesophagus TE14 7.3
Oesophagus TE15 6.7
Oesophagus TE1 7.3
Oesophagus TE4 7.7
Oesophagus TE5 7
Oesophagus TE6 7
Oesophagus TE8 7.2
Oesophagus TE9 6.9
Oesophagus TT 6.8
Ovary 59M 7.8
Ovary A2780 7.5
Ovary CAOV3 6.9
Ovary CAOV4 6.7
Ovary COLO704 7.8
Ovary COV318 7.2
Ovary COV362 7
Ovary COV434 6.8
Ovary COV504 7.1
Ovary COV644 6.6
Ovary EFO21 6.5
Ovary EFO27 7
Ovary ES2 7
Ovary FUOV1 8.8
Ovary HEYA8 7.2
Ovary HS571T 7.1
Ovary IGROV1 7.3
Ovary JHOC5 7.3
Ovary JHOM1 7.6
Ovary JHOM2B 7.6
Ovary JHOS2 7.2
Ovary JHOS4 7.1
Ovary KURAMOCHI 7.6
Ovary MCAS 6.7
Ovary NIHOVCAR3 7.1
Ovary OAW28 7.3
Ovary OAW42 7
Ovary OC314 7.4
Ovary OC316 7.4
Ovary ONCODG1 7
Ovary OV56 7.5
Ovary OV7 7.3
Ovary OV90 7.2
Ovary OVCAR4 7.4
Ovary OVCAR8 7
Ovary OVISE 6.6
Ovary OVK18 8.2
Ovary OVKATE 6.3
Ovary OVMANA 6.4
Ovary OVSAHO 6.9
Ovary OVTOKO 7
Ovary RMGI 7.6
Ovary RMUGS 7
Ovary SKOV3 7.4
Ovary SNU119 7.2
Ovary SNU840 8
Ovary SNU8 6.8
Ovary TOV112D 7.9
Ovary TOV21G 6.9
Ovary TYKNU 7.4
Pancreas ASPC1 7.2
Pancreas BXPC3 8
Pancreas CAPAN1 9
Pancreas CAPAN2 7
Pancreas CFPAC1 6.5
Pancreas DANG 6.8
Pancreas HPAC 7.6
Pancreas HPAFII 6.4
Pancreas HS766T 7.3
Pancreas HUPT3 7.8
Pancreas HUPT4 7.3
Pancreas KCIMOH1 6.9
Pancreas KLM1 8.2
Pancreas KP2 7.4
Pancreas KP3 6.8
Pancreas KP4 7.1
Pancreas L33 6.8
Pancreas MIAPACA2 8.1
Pancreas PANC0203 6.5
Pancreas PANC0213 7.6
Pancreas PANC0327 7.4
Pancreas PANC0403 6.5
Pancreas PANC0504 6.8
Pancreas PANC0813 7.1
Pancreas PANC1005 6.6
Pancreas PANC1 7
Pancreas PATU8902 6.5
Pancreas PATU8988S 7.1
Pancreas PATU8988T 8.3
Pancreas PK1 6.9
Pancreas PK45H 7.8
Pancreas PK59 7.5
Pancreas PL45 6.5
Pancreas PSN1 8.4
Pancreas QGP1 6.1
Pancreas SNU213 7.5
Pancreas SNU324 7.9
Pancreas SNU410 7.8
Pancreas SU8686 6.9
Pancreas SUIT2 6.7
Pancreas SW1990 7
Pancreas T3M4 6.7
Pancreas TCCPAN2 7.2
Pancreas YAPC 6.3
Pleura ACCMESO1 7.6
Pleura DM3 7.6
Pleura ISTMES1 7.1
Pleura ISTMES2 5
Pleura JL1 5.2
Pleura MPP89 7.6
Pleura MSTO211H 7.2
Pleura NCIH2052 7.6
Pleura NCIH2452 7.1
Pleura NCIH28 7.8
Prostate 22RV1 7.3
Prostate DU145 7.1
Prostate LNCAPCLONEFGC 7.1
Prostate MDAPCA2B 7.6
Prostate NCIH660 7.1
Prostate PC3 7.9
Prostate VCAP 7.6
Salivary gland A253 6.4
Salivary gland YD15 7.7
Skin A101D 7.3
Skin A2058 8.1
Skin A375 7.9
Skin C32 7.5
Skin CHL1 7.5
Skin CJM 7.3
Skin COLO679 7.8
Skin COLO741 7.7
Skin COLO783 7
Skin COLO792 7.1
Skin COLO800 7.5
Skin COLO818 7
Skin COLO829 8.4
Skin COLO849 8.7
Skin G361 8
Skin GRM 7.9
Skin HMCB 7.7
Skin HS294T 8.2
Skin HS600T 6.9
Skin HS688AT 7.3
Skin HS695T 7.6
Skin HS839T 7.1
Skin HS852T 8.1
Skin HS895T 7.2
Skin HS934T 7.6
Skin HS936T 7.8
Skin HS939T 7.8
Skin HS940T 7.4
Skin HS944T 8.5
Skin HT144 7.7
Skin IGR1 7.2
Skin IGR37 8.6
Skin IGR39 7.8
Skin IPC298 7.5
Skin K029AX 7.8
Skin LOXIMVI 7.8
Skin MALME3M 7.9
Skin MDAMB435S 7
Skin MELHO 7.3
Skin MELJUSO 8.2
Skin MEWO 7.2
Skin RPMI7951 7.6
Skin RVH421 7.2
Skin SH4 8.1
Skin SKMEL1 7.8
Skin SKMEL24 7.3
Skin SKMEL28 7.4
Skin SKMEL2 7.9
Skin SKMEL30 7.8
Skin SKMEL31 7.8
Skin SKMEL3 7.7
Skin SKMEL5 8.2
Skin UACC257 7.1
Skin UACC62 7.4
Skin WM115 8.1
Skin WM1799 7.3
Skin WM2664 8.2
Skin WM793 7.5
Skin WM88 6.9
Skin WM983B 6.9
Small intestine HUTU80 7.6
Soft tissue A204 7.4
Soft tissue G401 7.8
Soft tissue G402 7.8
Soft tissue GCT 7.6
Soft tissue HS729 7.2
Soft tissue HT1080 7.3
Soft tissue KYM1 7.3
Soft tissue MESSA 8.2
Soft tissue RD 7.7
Soft tissue RH30 8.4
Soft tissue RH41 7.7
Soft tissue RKN 7.2
Soft tissue S117 7.5
Soft tissue SJRH30 7.6
Soft tissue SKLMS1 7.3
Soft tissue SKUT1 7.7
Soft tissue TE125T 7.5
Soft tissue TE159T 7.3
Soft tissue TE441T 7.9
Soft tissue TE617T 7.5
Stomach 2313287 7.4
Stomach AGS 7.2
Stomach AZ521 7.8
Stomach ECC10 8
Stomach ECC12 7.9
Stomach FU97 7.4
Stomach GCIY 6.9
Stomach GSS 7.9
Stomach GSU 7.2
Stomach HGC27 7
Stomach HS746T 7.1
Stomach HUG1N 7
Stomach IM95 7.7
Stomach KATOIII 7.5
Stomach KE39 6.9
Stomach LMSU 7.9
Stomach MKN1 7.4
Stomach MKN45 7.8
Stomach MKN74 6.5
Stomach MKN7 7.7
Stomach NCCSTCK140 8.3
Stomach NCIN87 6.5
Stomach NUGC2 7.2
Stomach NUGC3 7
Stomach NUGC4 5.2
Stomach OCUM1 6.7
Stomach RERFGC1B 6.7
Stomach SH10TC 7.4
Stomach SNU16 7.1
Stomach SNU1 7.6
Stomach SNU216 7.8
Stomach SNU520 7.7
Stomach SNU5 8
Stomach SNU601 7.9
Stomach SNU620 7.6
Stomach SNU668 7.9
Stomach SNU719 7.5
Stomach TGBC11TKB 7.5
Thyroid 8305C 7.7
Thyroid 8505C 8
Thyroid BCPAP 7.8
Thyroid BHT101 7.5
Thyroid CAL62 7.2
Thyroid CGTHW1 8.1
Thyroid FTC133 7.7
Thyroid FTC238 6.6
Thyroid ML1 7
Thyroid SW579 8.3
Thyroid TT2609C02 8.2
Thyroid TT 6.7
Upper aerodigestive tract BHY 7
Upper aerodigestive tract BICR16 7.5
Upper aerodigestive tract BICR18 8
Upper aerodigestive tract BICR22 6.6
Upper aerodigestive tract BICR31 6.5
Upper aerodigestive tract BICR56 6.7
Upper aerodigestive tract BICR6 6.5
Upper aerodigestive tract CAL27 6.4
Upper aerodigestive tract CAL33 7
Upper aerodigestive tract DETROIT562 7.1
Upper aerodigestive tract FADU 7.4
Upper aerodigestive tract HS840T 7.4
Upper aerodigestive tract HSC2 6.8
Upper aerodigestive tract HSC3 7.3
Upper aerodigestive tract HSC4 6.9
Upper aerodigestive tract PECAPJ15 5.9
Upper aerodigestive tract PECAPJ34CLONEC12 6.8
Upper aerodigestive tract PECAPJ41CLONED2 6.8
Upper aerodigestive tract PECAPJ49 6.2
Upper aerodigestive tract SCC15 7.1
Upper aerodigestive tract SCC25 7.2
Upper aerodigestive tract SCC4 7.3
Upper aerodigestive tract SCC9 7.1
Upper aerodigestive tract SNU1076 6.9
Upper aerodigestive tract SNU1214 7.7
Upper aerodigestive tract SNU46 7.1
Upper aerodigestive tract SNU899 7
Upper aerodigestive tract YD10B 7.3
Upper aerodigestive tract YD38 7.6
Upper aerodigestive tract YD8 7.5
Urinary tract 5637 7.2
Urinary tract 639V 8.2
Urinary tract 647V 7.5
Urinary tract BC3C 7
Urinary tract BFTC905 7.5
Urinary tract CAL29 6.9
Urinary tract HS172T 7.7
Urinary tract HT1197 6.1
Urinary tract HT1376 7.4
Urinary tract J82 7.8
Urinary tract JMSU1 8.4
Urinary tract KMBC2 6.8
Urinary tract KU1919 7.9
Urinary tract RT11284 6.2
Urinary tract RT112 6.9
Urinary tract RT4 7.2
Urinary tract SCABER 6.6
Urinary tract SW1710 7.8
Urinary tract SW780 6.8
Urinary tract T24 7.4
Urinary tract TCCSUP 8.1
Urinary tract UMUC1 7.4
Urinary tract UMUC3 7.1
Urinary tract VMCUB1 7
> The Human Protein Atlas (HPA)
 


Tissue Expression Level (TPM)
Adipose tissue 27.5
Adrenal gland 36.3
Appendix 34.2
Bone marrow 46.3
Breast 27.7
Cerebral cortex 77.2
Cervix, uterine 29.6
Colon 29.7
Duodenum 22
Endometrium 37.9
Epididymis 28.6
Esophagus 39
Fallopian tube 32.3
Gallbladder 41.7
Heart muscle 18.8
Kidney 28.3
Liver 11.8
Lung 38.3
Lymph node 33.3
Ovary 33.2
Pancreas 5.8
Parathyroid gland 75.6
Placenta 35.2
Prostate 31.6
Rectum 27.6
Salivary gland 13.7
Seminal vesicle 32.1
Skeletal muscle 16.4
Skin 82.2
Small intestine 24.6
Smooth muscle 35.1
Spleen 36.3
Stomach 20.2
Testis 118.1
Thyroid gland 42.4
Tonsil 27.1
Urinary bladder 29.6
> Text Mining based Expression
 
PMID Expression Cancer Evidence
27859460loss of expressionMalignant MesotheliomaBAP1 loss and high EZH2 expression were observed in 17 (53%) and 22 (66%) malignant mesothelioma cases, respectively, whereas none of the benign lesions showed BAP1 loss or high EZH2 expression.
28488170loss of expression (mutation)Renal Cell CarcinomaMutations that cause loss of expression of BAP1 frequently occur in primary clear cell renal carcinoma (ccRCC).
28338651loss of expressionPeripheral Intrahepatic CholangiocarcinomaOne-third of perihilar cholangiocarcinomas lacked the expression of SMAD4, suggesting SMAD4 mutations, whereas the loss of BAP1 expression and IDH1 mutations were almost restricted to the peripheral type (35 and 15%, respectively).
28205427loss of expressionMalignant MesotheliomaLoss of BAP1 has recently been described as a highly specific marker for distinguishing malignant mesotheliomas (MM) from benign mesothelial proliferations (BMP).
28038708loss of expressionBiphasic Mesothelioma; Epithelioid MesotheliomaBAP1 loss was observed in 5 (38.5%) of 13 biphasic mesotheliomas and in both epithelioid and sarcomatoid components. BAP1 loss was observed in 5 (62.5%) of 8 epithelioid mesotheliomas but not in fibrous stroma.
27553041UnderexpressionLung AdenocarcinomaBAP1 expression showed a negative correlation with tumorigenesis of LAC (p <0.001) and lymph node metastasis (p = 0.010). High expression of BAP1 predicted longer disease free survival (p = 0.040) and overall survival (p = 0.021) of LAC patients.
27116551UnderexpressionUveal MelanomaBAP1 deficiency was the only significant independent prognostic predictor for patients with polyploid tumors, with a 16-fold increased hazard ratio (HR 15.90, P = 0.009).
27085487Aberrant expressionRenal Cell CarcinomaNuclear BAP1 expression showed a high frequency of loss in tumoral cells; nuclear BAP1-negative tumors had higher tumor size, higher Fuhrman grade, and higher stage, a greater amount of vascular and capsular invasion and a higher incidence of metastases.
26845517Loss of ExpressionDiffuse Malignant Peritoneal MesotheliomaThere was also evidence of BRCA1-associated protein 1 (BAP1) dysfunction compatible with diffuse malignant peritoneal mesothelioma (DMPM).
26765459Loss of ExpressionCholangiocarcinomaBAP1 loss predicted a strong trend toward improved median survival of 40.80 months (95% CI, 28.14-53.46) versus 24.87 months (95% CI, 18.73-31.01), P=0.059).
26611647UnderexpressionGastric AdenocarcinomaDecreased BAP1 expression was associated with higher histologic grade (P=0.044), tumor infiltration (P<0.001), metastasis status (P=0.023), and TNM stage (P<0.001).
26448191Loss of ExpressionRenal Cell Carcinoma; Peritoneal MesotheliomaBAP1 loss alone was seen in 10/15 (67%) biopsies and 10/15 (67%) cytology specimens; The 2 peritoneal mesothelioma cases demonstrated loss of BAP1 but not p16.
26376834Loss of ExpressionMalignant Pleural MesotheliomaBAP1 was lost in 77% of epithelioid cases (n=58) but was retained in all sarcomatoid cases (n=10); 49% of biphasic cases showed loss (n=43), and BAP1-negative cases demonstrated loss of staining in both the epithelioid and sarcomatoid components.
26288396Loss of ExpressionMalignant MesotheliomaHomozygous deletion of p16 by FISH or loss of BAP1 has only been reported in malignant mesotheliomas and not in benign mesothelial proliferations.
26226841Loss of ExpressionMalignant MesotheliomaWe conclude that loss of BAP1 expression, while not definitive, can be used to support the diagnosis of mesothelioma in effusion cytology.
26191197altered expressionGliomaUnivariate analysis demonstrated that high cytoplasmic expression of BAP1, tumor location, tumor relapse, advanced clinical stage were significant linkage with worse OS (P<0.05).
26118501UnderexpressionChronic Myeloid LeukemiaMoreover, BAP1 protein levels are low or undetectable in CD34(+) cells from CML patients at diagnosis as compared with CD34(+) cells from normal donors.
26081045UnderexpressionOesophagal Squamous Cell CarcinomaFurthermore, we found that the level of BAP1 expression in the nucleus was reduced in 44% of ESCC examined by immunohistochemistry (IHC).
26022455Loss of ExpressionMalignant mesotheliomaOur results show that BAP1 protein is frequently lost in mesothelioma, especially of epithelioid/biphasic subtype and is commonly associated with homozygous BAP1 deletion.
25972334Loss of ExpressionBasal Cell CarcinomaLoss of BAP1 expression could be associated with the development of BCC in patients with germline BAP1 mutations.
25658628Loss of Expression; mutationMalignant mesotheliomaIHC revealed loss of BAP1 nuclear staining in 47 of these 70 MM biopsies (67.1%). Our findings conclusively establish BAP1 as the most commonly mutated gene in MM, regardless of ethnic background or other clinical characteristics.
25228651UnderexpressionBreast AdenocarcinomaBAP1 was downregulated in metastatic adenocarcinoma breast cell lines compared with noncancerous human breast epithelial cells.
24633195 Loss of Expression; MutationUveal MelanomaBAP1 staining was absent in 43% of the cases. Patients with a BAP1 mutation and absent BAP1 expression had an almost eightfold higher chance of developing metastases compared with those without these changes (P=0.002).
24382589Loss of ExpressionRenal Cell CarcinomaA total of 10.5% of tumors were BAP1-negative, 84.8% of tumors were BAP1-positive, and 4.6% of tumors had ambiguous staining for BAP1. Patients with BAP1-negative tumors have an increased risk of ccRCC-related death (hazard ratio [HR]= 3.06; 95% confidence interval [CI]= 2.28-4.10; P = 6.77 × 10(-14) ).
24247622Loss of Expression; UnderexpresisonUveal MelanomaBAP1 expression was absent in 23 (58%) tumours, heterogenous in seven (18%) tumours, and diffuse in 10 (25%) tumours.
24076305Loss of ExpressionUveal MelanomaBAP1 loss was associated with adverse clinicopathological variables, including high Fuhrman grade (p <0.0001), advanced pT stage (p = 0.0021), sarcomatoid dedifferentiation (p = 0.0001) and necrosis (p <0.0001).
23963927OverexpressionMalignant Pleural MesotheliomaBAP1 expression was not associated with asbestos exposure but we detected a significant effect of BAP1 expression on overall survival time--the higher the BAP1 expression (non-mutated BAP1), the shorter the overall survival.
23887304Loss of ExpressionUveal MelanomaSF3B1 mutation was found in 1 of 26 tumors (4%), whereas loss of BAP1 expression was present in 13 of 16 tumors (81%).
23526420UnderexpressionColorectal CarcinomaWe found that the mRNA and protein levels of BAP1 were down-regulated in 6 out of 8 cases of CRC tissues compared with their adjacent non-cancerous tissues.
22863556OverexpressionNon-Small Cell Lung CancerResults revealed 49 (47.5%) patients were classified with high expression of BAP1. There was also a significant association between BAP1 expression and histological type (p = 0.014), while expression of BAP1 was not correlated with other clinical or pathological characteristics.
21941004Loss of Expression; UnderexpresisonUveal Melanoma; Lung adenocarcinoma; MeningiomaBiallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation.
21874003Loss of expressionMelanomaThese findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm.
21051595Loss of ExpressionUveal MelanomaThese findings implicate loss of BAP1 in uveal melanoma metastasis and suggest that the BAP1 pathway may be a valuable therapeutic target.
27665474OverexpressionNon-Small Cell Lung CancerWe evaluated the expression of class I HDACs in non-small cell lung cancer (NSCLC) cells and found that HDAC2 was significantly increased in NSCLC cells as compared with the normal bronchial epithelial cell line BEAS-2B.
27432453OverexpressionBreast CarcinomaIn breast cancer, HDAC2 expression was significantly increased than in fibroadenoma (P = 0.015), and correlated with lymph node metastasis (P = 0.002), advanced clinical stages (P = 0.016) and high histological grade (P = 0.001).
27266347UnderexpressionLung AdenocarcinomaCompared with the para-cancer tissues of 73 cases, the expression of HDAC2 at mRNA and protein levels in lung adenocarcinoma tissues were significantly lower (t=4.15, 8.006, all P<0.01). and the content of IL-8 and TNF-α at mRNA levels were increased (t=-4.252, -5.
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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 carcinoma4040.5617.09e-3529.546.524Neutral
BRCABreast invasive carcinoma10750.5971.2e-10431.959.88.3Neutral
CESCCervical and endocervical cancers2920.6668.98e-3942.148.39.6Loss
COADColon adenocarcinoma4490.4713.35e-2616.375.78Neutral
ESCAEsophageal carcinoma1830.3151.37e-0567.825.76.6Loss
GBMGlioblastoma multiforme1470.5094.62e-118.876.914.3Neutral
HNSCHead and Neck squamous cell carcinoma5140.3577.31e-177226.31.8Loss
KIRCKidney renal clear cell carcinoma5250.4983.44e-3487.611.21.1Loss
KIRPKidney renal papillary cell carcinoma2880.5359.78e-239.465.625Neutral
LAMLAcute Myeloid Leukemia1660.2270.003233.695.80.6Neutral
LGGBrain Lower Grade Glioma5130.58.66e-349.788.31.9Neutral
LIHCLiver hepatocellular carcinoma3640.6013.64e-3717.971.710.4Neutral
LUADLung adenocarcinoma5120.5447.63e-4145.747.96.4Loss
LUSCLung squamous cell carcinoma4980.1440.0012486.512.70.8Loss
OVOvarian serous cystadenocarcinoma3000.7591.65e-57354619Loss
PAADPancreatic adenocarcinoma1770.5191.37e-1326.670.62.8Neutral
PCPGPheochromocytoma and Paraganglioma1620.7961.14e-3638.959.91.2Loss
PRADProstate adenocarcinoma4910.4491.01e-253.5897.5Neutral
READRectum adenocarcinoma1640.4771.1e-1015.268.915.9Neutral
SARCSarcoma2550.7485.33e-4725.156.918Neutral
SKCMSkin Cutaneous Melanoma3670.5581.99e-3120.261.918Neutral
STADStomach adenocarcinoma4130.5356.63e-3233.959.86.3Loss
TGCTTesticular Germ Cell Tumors1500.676.38e-21206020Neutral
THCAThyroid carcinoma4970.090.04490.698.80.6Neutral
THYMThymoma1190.4093.9e-0610.989.10Neutral
UCECUterine Corpus Endometrial Carcinoma5370.5711.06e-4712.775.611.7Neutral
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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-0.2262.61e-0617408-0.0030.149NS/NA
BRCABreast invasive carcinoma-0.2252.11e-118378500.0453NS/NA
CESCCervical and endocervical cancers-0.2721.37e-063306NANANS/NA
COADColon adenocarcinoma-0.2612.8e-06192970.0029.6e-07NS/NA
ESCAEsophageal carcinoma-0.1390.05359185NANANS/NA
GBMGlioblastoma multiforme-0.3550.00391164NANANS/NA
HNSCHead and Neck squamous cell carcinoma-0.0880.0408205220.0030.00239NS/NA
KIRCKidney renal clear cell carcinoma-0.1530.00452243190.0020.0487NS/NA
KIRPKidney renal papillary cell carcinoma-0.3114.95e-082327500.152NS/NA
LAMLAcute Myeloid Leukemia-0.1470.05630170NANANS/NA
LGGBrain Lower Grade Glioma-0.0970.02610530NANANS/NA
LIHCLiver hepatocellular carcinoma-0.1820.000205413730.0010.89NS/NA
LUADLung adenocarcinoma-0.0910.047321456-0.0010.838NS/NA
LUSCLung squamous cell carcinoma-0.1140.02738370NANANS/NA
OVOvarian serous cystadenocarcinoma-0.6670.058909NANANS/NA
PAADPancreatic adenocarcinoma-0.1490.04464179NANANS/NA
PCPGPheochromocytoma and Paraganglioma-0.3141.38e-053184NANANS/NA
PRADProstate adenocarcinoma-0.1842.03e-0535498-0.0157.77e-08NS/NA
READRectum adenocarcinoma-0.0760.448299NANANS/NA
SARCSarcoma-0.3382.32e-080263NANANS/NA
SKCMSkin Cutaneous Melanoma-0.1680.0002471471NANANS/NA
STADStomach adenocarcinoma-0.1510.003470372NANANS/NA
TGCTTesticular Germ Cell Tumors-0.2860.0003090156NANANS/NA
THCAThyroid carcinoma-0.0780.06635050900.515NS/NA
THYMThymoma-0.2110.01972120NANANS/NA
UCECUterine Corpus Endometrial Carcinoma-0.0760.10134431-0.0030.0771NS/NA
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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)
 


Cancer Full Name # Sample Median (abundance) MAD (abundance)
BLCA Bladder urothelial carcinoma 344 -0.027 0.223
BRCA Breast invasive carcinoma 892 0 0.188
CESC Cervical and endocervical cancers 173 -0.025 0.306
COAD Colon adenocarcinoma 362 -0.021 0.231
ESCA Esophageal carcinoma 126 0.033 0.301
GBM Glioblastoma multiforme 244 -0.024 0.168
KIRC Kidney renal clear cell carcinoma 478 0.005 0.134
KIRP Kidney renal papillary cell carcinoma 216 0.009 0.169
LGG Brain Lower Grade Glioma 435 -0.034 0.111
LIHC Liver hepatocellular carcinoma 184 -0.01 0.067
LUAD Lung adenocarcinoma 365 -0.02 0.16
LUSC Lung squamous cell carcinoma 328 0.001 0.209
OV Ovarian serous cystadenocarcinoma 436 0.017 0.202
PAAD Pancreatic adenocarcinoma 123 0.054 0.182
PCPG Pheochromocytoma and Paraganglioma 82 0.057 0.174
PRAD Prostate adenocarcinoma 352 0.035 0.205
READ Rectum adenocarcinoma 131 0.004 0.291
SARC Sarcoma 226 0.064 0.26
SKCM Skin Cutaneous Melanoma 355 -0.013 0.278
STAD Stomach adenocarcinoma 357 -0.006 0.312
TGCT Testicular Germ Cell Tumors 122 -0.057 0.129
THYM Thymoma 90 -0.017 0.118
UCEC Uterine Corpus Endometrial Carcinoma 440 -0.02 0.191
> The Human Protein Atlas (HPA)
 


Tissue Level Level Name
Adrenal gland 1 Low
Appendix 2 Medium
Bone marrow 2 Medium
Breast 1 Low
Bronchus 1 Low
Caudate 1 Low
Cerebellum 1 Low
Cerebral cortex 1 Low
Cervix, uterine 1 Low
Colon 2 Medium
Duodenum 2 Medium
Endometrium 2 Medium
Epididymis 2 Medium
Esophagus 2 Medium
Fallopian tube 1 Low
Gallbladder 2 Medium
Heart muscle 1 Low
Hippocampus 1 Low
Kidney 2 Medium
Liver 1 Low
Lung 1 Low
Lymph node 2 Medium
Nasopharynx 1 Low
Oral mucosa 2 Medium
Ovary 2 Medium
Pancreas 1 Low
Parathyroid gland 1 Low
Placenta 2 Medium
Prostate 2 Medium
Rectum 2 Medium
Salivary gland 2 Medium
Seminal vesicle 1 Low
Skeletal muscle 1 Low
Skin 2 Medium
Small intestine 2 Medium
Smooth muscle 1 Low
Soft tissue 1 Low
Spleen 1 Low
Stomach 2 Medium
Testis 2 Medium
Thyroid gland 1 Low
Tonsil 2 Medium
Urinary bladder 2 Medium
Vagina 1 Low
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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 carcinoma1280.128NS24476821
BRCABreast invasive carcinoma5211.33e-05Significant23000897
COADColon adenocarcinoma1490.000464Significant22810696
GBMGlioblastoma multiforme1570.15NS26824661
HNSCHead and Neck squamous cell carcinoma2790.0691NS25631445
KIRPKidney renal papillary cell carcinoma1610.664NS26536169
LGGBrain Lower Grade Glioma5131.25e-21Significant26824661
LUADLung adenocarcinoma2300.0821NS25079552
LUSCLung squamous cell carcinoma1783.95e-07Significant22960745
OVOvarian serous cystadenocarcinoma2870.1NS21720365
PRADProstate adenocarcinoma3330.486NS26544944
READRectum adenocarcinoma670.0789NS22810696
SKCMSkin Cutaneous Melanoma3150.011Significant26091043
STADStomach adenocarcinoma2770.396NS25079317
THCAThyroid carcinoma3914.65e-24Significant25417114
UCECUterine Corpus Endometrial Carcinoma2320.00196Significant23636398
> Overall survival
 

  Overall survival analysis based on expression.
Cancer Full Name # Patients Hazard Ratio P Value (Log Rank Test) Association
BLCABladder urothelial carcinoma405 1.1420.549NS
BRCABreast invasive carcinoma1079 0.940.767NS
CESCCervical and endocervical cancers291 0.8610.661NS
COADColon adenocarcinoma439 0.9020.701NS
ESCAEsophageal carcinoma184 0.5380.0429Longer
GBMGlioblastoma multiforme158 0.9960.989NS
HNSCHead and Neck squamous cell carcinoma518 0.6010.00863Longer
KIRCKidney renal clear cell carcinoma531 0.9560.818NS
KIRPKidney renal papillary cell carcinoma287 0.2270.00141Longer
LAMLAcute Myeloid Leukemia149 1.3740.248NS
LGGBrain Lower Grade Glioma511 0.4020.00167Longer
LIHCLiver hepatocellular carcinoma365 0.9880.961NS
LUADLung adenocarcinoma502 0.9270.723NS
LUSCLung squamous cell carcinoma494 0.7270.106NS
OVOvarian serous cystadenocarcinoma303 0.7770.242NS
PAADPancreatic adenocarcinoma177 0.5720.0537NS
PCPGPheochromocytoma and Paraganglioma179 0.4190.439NS
PRADProstate adenocarcinoma497 677820024.5970.034Shorter
READRectum adenocarcinoma159 0.3410.0924NS
SARCSarcoma259 1.6530.0751NS
SKCMSkin Cutaneous Melanoma459 2.030.000285Shorter
STADStomach adenocarcinoma388 0.7980.347NS
TGCTTesticular Germ Cell Tumors134 00.309NS
THCAThyroid carcinoma500 1.2740.717NS
THYMThymoma119 0.1430.053NS
UCECUterine Corpus Endometrial Carcinoma543 0.8450.533NS
> Stage
 

  Association between expresson and stage.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
BLCABladder urothelial carcinoma406 -0.1350.00626Lower
BRCABreast invasive carcinoma1071 -0.0020.949NS
CESCCervical and endocervical cancers167 -0.0780.319NS
COADColon adenocarcinoma445 -0.0520.277NS
ESCAEsophageal carcinoma162 -0.1390.0778NS
HNSCHead and Neck squamous cell carcinoma448 0.0340.478NS
KIRCKidney renal clear cell carcinoma531 -0.1610.000191Lower
KIRPKidney renal papillary cell carcinoma260 -0.0430.489NS
LIHCLiver hepatocellular carcinoma347 -0.0060.907NS
LUADLung adenocarcinoma507 0.0180.685NS
LUSCLung squamous cell carcinoma497 0.010.816NS
OVOvarian serous cystadenocarcinoma302 -0.050.388NS
PAADPancreatic adenocarcinoma176 -0.0340.65NS
READRectum adenocarcinoma156 -0.0550.494NS
SKCMSkin Cutaneous Melanoma410 -0.0780.116NS
STADStomach adenocarcinoma392 -0.1510.00278Lower
TGCTTesticular Germ Cell Tumors81 0.2680.0157Higher
THCAThyroid carcinoma499 0.030.503NS
UCECUterine Corpus Endometrial Carcinoma501 0.0420.344NS
> Grade
 

  Association between expresson and grade.
Cancer Full Name # Patients R Value (Spearman) P Value (Spearman) Association
CESCCervical and endocervical cancers272 0.040.513NS
HNSCHead and Neck squamous cell carcinoma498 -0.030.503NS
KIRCKidney renal clear cell carcinoma525 -0.0710.104NS
LGGBrain Lower Grade Glioma514 -0.1852.53e-05Lower
LIHCLiver hepatocellular carcinoma366 -0.0290.576NS
OVOvarian serous cystadenocarcinoma296 0.0650.268NS
PAADPancreatic adenocarcinoma176 -0.0270.722NS
STADStomach adenocarcinoma406 -0.1070.031Lower
UCECUterine Corpus Endometrial Carcinoma534 0.2372.87e-08Higher
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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 BAP1.
Summary
SymbolBAP1
NameBRCA1 associated protein 1
Aliases hucep-6; KIAA0272; UCHL2; HUCEP-13; cerebral protein 6; cerebral protein-13; BRCA1-associated protein 1; Ubi ......
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
28459210Clear Cell Renal Cell CarcinomapartnerUCA1associationOur results indicated that urothelial carcinoma-associated 1 overexpression was associated with male ( p = 0.003), wild-type PBRM1 ( p = 0.021), and BAP1 mutation ( p = 0.022) in clear cell renal cell carcinoma, although lower expression was found in tumors compared with normal controls, validated in tumor tissues from The Cancer Genome Atlas and 21 clear cell renal cell carcinoma patients at our hospital.
26118501Chronic Myeloid LeukemiadownstreamBRCA1regulationThese results demonstrate BAP1 as a major link with the BCR-ABL-induced downregulation of BRCA1 in CML.
27432453Breast CarcinomapartnerKi67Positive correlationSignificant positive correlations were found between HDAC2 and Ki67, HDAC1 and multidrug resistance protein, HDAC2 and breast cancer resistance protein, HDAC2 and multidrug resistance protein.