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BAP1 (BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase))

Written2009-09Frédéric Guénard, Francine Durocher
Cancer Genomics Laboratory, Oncology, Molecular Endocrinology Research Centre, CRCHUL, CHUQ, Laval University, Québec, G1V 4G2, Canada
Updated2017-08Assunta De Rienzo, Joseph R. Testa
Department of Surgery, Brigham and Women's Hospital and Harvard Medical School (ADR); Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, PA (JRT) /;

(Note : for Links provided by Atlas : click)


Alias_namesBRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Alias_symbol (synonym)hucep-6
Other aliasDKFZp686N04275
HGNC (Hugo) BAP1
LocusID (NCBI) 8314
Atlas_Id 755
Location 3p21.1  [Link to chromosome band 3p21]
Location_base_pair Starts at 52401004 and ends at 52410105 bp from pter ( according to hg19-Feb_2009)  [Mapping BAP1.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
BAP1 (3p21.1) / CCDC66 (3p14.3)BAP1 (3p21.1) / ZBTB1 (14q23.3)PBRM1 (3p21.1) / BAP1 (3p21.1)
TOX4 (14q11.2) / BAP1 (3p21.1)


Description The gene spans 9.0 kb and is composed of 17 exons.
Transcription Transcription start is 115 bp upstream of first ATG of the BAP1 ORF.
Pseudogene No pseudogene reported.


  Structure of BAP1. BAP1 is a 729 aa protein. UCH, Ubiquitin C-terminal hydrolase; HBM, HCF-binding motif (NHNY sequence); NLS, Nuclear localization signal.
Description Human BAP1 is 729 amino acids with a molecular weight of 90 kDa. The amino-terminal 240 amino acids show homology to ubiquitin C-terminal hydrolases (UCH).
BAP1 also contains a region of extreme acidity (amino acids 396 to 408), multiple potential phosphorylation sites and N-linked glycosylation sites. The C-terminal region contains two putative nuclear localization signals.
BAP1 binds to the RING finger domain of BRCA1 through its carboxyl-terminal region (594-657 amino acids). Domain comprised by residues 182-365 of BAP1 interacts with the RING finger domain of BARD1. Interaction of BAP1 with HCF-1 (host cell factor 1; HCFC1) is dependent on the NHNY sequence resembling the HCF-binding motif (HBM).
Expression BAP1 is expressed in a variety of human adult tissues. High expression was detected in testis, placenta and ovary, with varying levels detected in other tissues. Expression of BAP1 in normal human breast tissue was also detected.
Analysis conducted in mice revealed that Bap1 expression is up-regulated in the breast during puberty, pregnancy and as a result of parity.
BAP1 mRNA level is significantly increased in MCF10a cell line following genistein treatment, an isoflavone found in soya and proposed to prevent breast cancer.
Localisation BAP1 is a nuclear-localized ubiquitin carboxy-terminal hydrolase.
Function BAP1 enhances BRCA1-mediated inhibition of breast cancer cell growth and may serve as a regulator/effector of BRCA1 growth control/differentiation pathways. BAP1 interacts with HCF-1, a transcriptional cofactor found in a number of important regulatory complexes. Bap1 may help to control cell proliferation by regulating HCF-1 protein levels and by associating with genes involved in the G1-S transition.
The BRCA1/BARD1 complex possess a dual E3 ubiquitin ligase activity, promotes its own ubiquitination and targets other proteins. Although BAP1 associates with BRCA1, it does not appear to function in the deubiquitylation of the BRCA1/BARD1 complex. BAP1 inhibits the E3 ligase activity of BRCA1/BARD1 by binding the RING finger domain of BARD1 and possesses deubiquitination activity toward ubiquitin chains catalyzed by BRCA1/BARD1.
BAP1 and BRCA1/BARD1 may coordinately regulate ubiquitination during the DNA damage response and the cell cycle, BAP1 being phosphorylated by ATM and ATR in response to DNA damage and BAP1 inhibition causing S-phase retardation.
It was also proposed that specific regions and UCH activity of BAP1 play an essential role in TCR.
In the cytoplasm, BAP1 has recently been shown to localize at the endoplasmic reticulum, where it binds, deubiquitylates, and stabilizes type 3 inositol-1,4,5-trisphosphate receptor (IP3R3). This binding modulates calcium (Ca2+) release from the endoplasmic reticulum into the cytosol and mitochondria, promoting apoptosis.
Homology The amino-terminal 240 amino acids show significant homology to a class of thiol proteases, designated UCH, which are implicated in the proteolytic processing of ubiquitin.


Note The mutation of a residue predicted to disrupt the helical nature of the extreme C-terminal region of BAP1 abolishes the BAP1/BRCA1 interaction.
BAP1 can suppress tumorigenicity of lung cancer cells in athymic nude mice.
Deubiquitinating activity and nuclear localization are both required for BAP1-mediated tumor suppression. Moreover, BAP1-mediated growth suppression is independent of wild-type BRCA1.
Squamous-cell carcinomas and large-cell undifferentiated carcinomas showed LOH for a 3p21-22 locus.
Large rearrangements, deletions, and missense mutations of the BAP1 locus have been found in lung and sporadic breast tumors and in lung cancer cell lines.
Heterozygous germline mutations of Bap1 in mice predispose to tumor formation, providing in vivo evidence that Bap1 Is a bona fide tumor suppressor. Bap1+/- mice followed for up to 20 months of age demonstrated that haploinsufficient mutant mice exhibited a markedly higher incidence and accelerated onset of asbestos-induced malignant mesothelioma when compared with similarly-exposed wild-type littermates.

Implicated in

Entity Breast cancer
Note A study conducted on high-risk breast cancer families from the French population revealed that the BAP1 gene does not appear to be commonly involved in high-risk breast cancer predisposition. These results were thereafter confirmed in a larger study conducted on families with high risk of breast cancer from the French Canadian population. These studies do not rule out the possibility that BAP1 alleles might be associated with moderate or low breast cancer risk.
Selected variations of the BAP1 gene were also excluded as low penetrance risk alleles in sporadic breast cancer carried from the Spanish population.
Entity Medulloblastoma
Note Medulloblastoma is a highly malignant tumor of the cerebellum. This disease with poor prognosis occurs mostly in children. A screen of cDNA libraries with autologous sera to identify antigen-specific immune responses associated with this agressive tumor type pointed to the BAP1 gene as a possible target of immune response.
Entity Malignant Pleural Mesothelioma (MPM)
Note MPM is a lethal disease resistant to most current therapies. In 2011, two independent investigations identified somatic BAP1 mutations in sporadic MPMs, and one report also identified families with MPMs resulting from germline mutations of BAP1. To date, BAP1 mutations have been found in 47-67% of sporadic MPM tumors, with 20-25% involving truncating point mutations and the remainder involving exonic deletions. The mutations occur mostly in epithelioid MPM (and many peritoneal mesotheliomas) and no significant correlation has been found between somatic mutation in BAP1 and gender, exposure to asbestos, or survival.
Abnormal Protein Identified in pleural malignant mesothelioma specimens by RNA-seq data analysis:
BAP1 (3p21.1) / CCDC66 (3p14.3) (validated by Sanger sequencing)
BAP1 (3p21.1) / WDR6 (3p21.31)
BAP1 (3p21.1) / ALDH3B1 (11q13.2)
BAP1 (3p21.1) / TNNC1 (3p21.1)
BAP1 (3p21.1) / PBRM1 3p21.1 (validated by Sanger sequencing)
Entity Familial Mesothelioma
Entity Metastatic Uveal Melanoma
Note Inactivating somatic mutations of BAP1 have been reported in nearly 85% of metastasizing uveal melanomas, the most common primary cancer of the eye and a tumor type with a strong propensity for fatal metastasis. More than one half of the mutations were predicted to cause premature protein termination, and about 20% affected BAP1's ubiquitin carboxyl-terminal hydrolase domain.
Entity Cutaneous Melanoma
Note Somatic mutations have been observed in about 5% of spontaneous cutaneous melanomas and 10% of atypical Spitz tumors.
Entity Clear Cell Renal Cell Carcinoma
Note BAP1 is inactivated in about 15% of clear cell renal cell carcinomas (ccRCCs). Notably, BAP1 loss is a poor prognostic indicator in ccRCC, being associated with high tumor grade.
Entity Intrahepatic Cholangiocarcinoma
Note Somatic BAP1 mutations were reported in 8 of 32 (25%) intrahepatic cholangiocarcinomas in a discovery screen and in 5 of 32 (16%) independent intrahepatic cholangiocarcinomas in a subsequent prevalence screen.
Entity Schizophrenia
Note The BAP1 gene was excluded as a promizing candidate gene for schizophrenia in a fine mapping association study carried out on chromosome 3p, one of the regions showing strong evidence of linkage with schizophrenia.


Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries.
Behrends U, Schneider I, Rossler S, Frauenknecht H, Golbeck A, Lechner B, Eigenstetter G, Zobywalski C, Muller-Weihrich S, Graubner U, Schmid I, Sackerer D, Spath M, Goetz C, Prantl F, Asmuss HP, Bise K, Mautner J.
Int J Cancer 2003 Aug 20;106(2):244-251.
PMID 12800201
BAP1 regulates IP3R3-mediated Ca2+ flux to mitochondria suppressing cell transformation.
Bononi A, Giorgi C, Patergnani S, Larson D, Verbruggen K, Tanji M, Pellegrini L, Signorato V, Olivetto F, Pastorino S, Nasu M, Napolitano A, Gaudino G, Morris P, Sakamoto G, Ferris LK, Danese A, Raimondi A, Tacchetti C, Kuchay S, Pass HI, Affar EB, Yang H, Pinton P, Carbone M.
Nature 2017; 546:549-53.
PMID 28614305
The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.
Bott M, Brevet M, Taylor BS, Shimizu S, Ito T, Wang L, Creaney J, Lake RA, Zakowski MF, Reva B, Sander C, Delsite R, Powell S, Zhou Q, Shen R, Olshen A, Rusch V, Ladanyi M.
Nat Genet 2011; 43:668-72.
PMID 21642991
Homozygous deletion, rearrangement and hypermethylation implicate chromosome region 3p14.3-3p21.3 in sporadic breast-cancer development.
Buchhagen DL, Qiu L, Etkind P.
Int J Cancer. 1994 May 15;57(4):473-9.
PMID 8181852
Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations.
Bueno R, Stawiski EW, Goldstein LD, Durinck S, De Rienzo A, Modrusan Z, Gnad F, Nguyen TT, Jaiswal BS, Chirieac LR, Sciaranghella D, Dao N, Gustafson CE, Munir KJ, Hackney JA, Chaudhuri A, Gupta R, Guillory J, Toy K, Ha C, Chen YJ, Stinson J, Chaudhuri S, Zhang N, Wu TD, Sugarbaker DJ, de Sauvage FJ, Richards WG, Seshagiri S.
Nat Genet 2016; 48:407-16.
PMID 26928227
Soya phytonutrients act on a panel of genes implicated with BRCA1 and BRCA2 oncosuppressors in human breast cell lines.
Caetano B, Le Corre L, Chalabi N, Delort L, Bignon YJ, Bernard-Gallon DJ.
Br J Nutr 2006 Feb;95(2):406-413.
PMID 16469160
BAP1 and breast cancer risk.
Coupier I, Cousin PY, Hughes D, Legoix-Ne P, Trehin A, Sinilnikova OM, Stoppa-Lyonnet D.
Fam Cancer 2005;4(4):273-277.
PMID 16341802
Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer.
Guenard F, Labrie Y, Ouellette G, Joly Beauparlant C, Durocher F.
J Hum Genet 2009;54(3):152-161.
PMID 19197335
Frequent mutation of BAP1 in metastasizing uveal melanomas.
Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM.
PMID 21051595
Symposium overview: genetic polymorphisms in DNA repair and cancer risk.
Hu JJ, Mohrenweiser HW, Bell DA, Leadon SA, Miller MS.
Toxicol Appl Pharmacol 2002 Nov 15;185(1):64-73.
PMID 12460738
A novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.
Jensen DE, Proctor M, Marquis ST, Gardner HP, Ha SI, Chodosh LA, Ishov AM, Tommerup N, Vissing H, Sekido Y, Minna J, Borodovsky A, Schultz DC, Wilkinson KD, Maul GG, Barlev N, Berger SL, Prendergast GC, Rauscher FJ 3rd.
Oncogene 1998 Mar 5;16(9):1097-1112.
PMID 9528852
BAP1, a candidate tumor suppressor protein that interacts with BRCA1.
Jensen DE, Rauscher FJ 3rd.
Ann N Y Acad Sci 1999;886:191-194. (REVIEW)
PMID 10667217
Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas.
Jiao Y, Pawlik TM, Anders RA, Selaru FM, Streppel MM, Lucas DJ, Niknafs N, Guthrie VB, Maitra A, Argani P, Offerhaus GJ, Roa JC, Roberts LR, Gores GJ, Popescu I, Alexandrescu ST, Dima S, Fassan M, Simbolo M, Mafficini A, Capelli P, Lawlor RT, Ruzzenente A, Guglielmi A, Tortora G, de Braud F, Scarpa A, Jarnagin W, Klimstra D, Karchin R, Velculescu VE, Hruban RH, Vogelstein B, Kinzler KW, Papadopoulos N, Wood LD.
Nat Genet 2013; 45:1470-3.
PMID 24185509
Bap1 Is a bona fide tumor suppressor: genetic evidence from mouse models carrying heterozygous germline Bap1 mutations.
Kadariya Y, Cheung M, Xu J, Pei J, Sementino E, Menges CW, Cai KQ, Rauscher FJ, Klein-Szanto AJ, Testa JR.
Cancer Res 2016; 76:2836-44.
PMID 26896281
Activation of the E3 ligase function of the BRCA1/BARD1 complex by polyubiquitin chains.
Mallery DL, Vandenberg CJ, Hiom K.
EMBO J 2002 Dec 16;21(24):6755-6762.
PMID 12485996
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J,Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ
Science 2007 May 25;316(5828):1160-1166.
PMID 17525332
Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1.
Misaghi S, Ottosen S, Izrael-Tomasevic A, Arnott D, Lamkanfi M, Lee J, Liu J, O'Rourke K, Dixit VM, Wilson AC.
Mol Cell Biol 2009 Apr;29(8):2181-2192.
PMID 19188440
BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity.
Nishikawa H, Wu W, Koike A, Kojima R, Gomi H, Fukuda M, Ohta T.
Cancer Res 2009 Jan 1;69(1):111-119.
PMID 19117993
BAP1 loss defines a new class of renal cell carcinoma.
Peña-Llopis S1, Vega-Rubèn-de-Celis S, Liao A, Leng N, Pavèa-Jiménez A, Wang S, Yamasaki T, Zhrebker L, Sivanand S, Spence P, Kinch L, Hambuch T, Jain S, Lotan Y, Margulis V, Sagalowsky AI, Summerour PB, Kabbani W, Wong SW, Grishin N, Laurent M, Xie XJ, Haudenschild CD, Ross MT, Bentley DR, Kapur P, Brugarolas J.
Nat Genet 2012, 44:751-9.
PMID 22683710
Targeting BAP1: a new paradigm for mesothelioma.
Schunselaar LM, Zwart W, Baas P.
Lung Cancer 2017; 109:145-6.
PMID 28342657
Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
So HC, Fong PY, Chen RY, Hui TC, Ng MY, Cherny SS, Mak WW, Cheung EF, Chan RC, Chen EY, Li T, Sham PC.
Am J Med Genet B Neuropsychiatr Genet 2009 Apr 14. [Epub ahead of print]
PMID 19367581
Germline BAP1 mutations predispose to malignant mesothelioma.
Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M.
Nat Genet 2011; 43:1022-5.
PMID 21874000
Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
Vega A, Salas A, Milne RL, Carracedo B, Ribas G, Ruibal A, de Leon AC, Gonzalez-Hernandez A, Benitez J, Carracedo A.
Gynecol Oncol 2009 Jan;112(1):210-214.
PMID 18950845
BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.
Ventii KH, Devi NS, Friedrich KL, Chernova TA, Tighiouart M, Van Meir EG, Wilkinson KD.
Cancer Res 2008 Sep 1;68(17):6953-6962.
PMID 18757409
Germline mutations in BAP1 predispose to melanocytic tumors.
Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR.
Nat Genet 2011, 43: 1018-21.
PMID 21874003
Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma.
Xu J, Kadariya Y, Cheung M, Pei J, Talarchek J, Sementino E, Tan Y, Menges CW, Cai KQ, Litwin S, Peng H, Karar J, Rauscher FJ, Testa JR.
Cancer Res 2014; 74:4388-97.
PMID 24928783


This paper should be referenced as such :
Assunta De Rienzo, Joseph Testa
BAP1 (BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase))
Atlas Genet Cytogenet Oncol Haematol. 2018;22(4):138-141.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Guénard, F ; Durocher, F. BAP1 (BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)). Atlas Genet Cytogenet Oncol Haematol. 2010;14(7):670-672.

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Malignant Mesothelioma
Skin: Spitz tumors
t(3;3)(p14;p21) BAP1/CCDC66
PBRM1/BAP1 (3p21)

External links

HGNC (Hugo)BAP1   950
LRG (Locus Reference Genomic)LRG_529
Entrez_Gene (NCBI)BAP1  8314  BRCA1 associated protein 1
AliasesHUCEP-13; UCHL2; hucep-6
GeneCards (Weizmann)BAP1
Ensembl hg19 (Hinxton)ENSG00000163930 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163930 [Gene_View]  ENSG00000163930 [Sequence]  chr3:52401004-52410105 [Contig_View]  BAP1 [Vega]
ICGC DataPortalENSG00000163930
TCGA cBioPortalBAP1
AceView (NCBI)BAP1
Genatlas (Paris)BAP1
SOURCE (Princeton)BAP1
Genetics Home Reference (NIH)BAP1
Genomic and cartography
GoldenPath hg38 (UCSC)BAP1  -     chr3:52401004-52410105 -  3p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BAP1  -     3p21.1   [Description]    (hg19-Feb_2009)
GoldenPathBAP1 - 3p21.1 [CytoView hg19]  BAP1 - 3p21.1 [CytoView hg38]
Mapping of homologs : NCBIBAP1 [Mapview hg19]  BAP1 [Mapview hg38]
OMIM603089   614327   
Gene and transcription
Genbank (Entrez)AB002534 AF045581 AK092725 AK094499 AK225494
RefSeq transcript (Entrez)NM_004656
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BAP1
Cluster EST : UnigeneHs.106674 [ NCBI ]
CGAP (NCI)Hs.106674
Alternative Splicing GalleryENSG00000163930
Gene ExpressionBAP1 [ NCBI-GEO ]   BAP1 [ EBI - ARRAY_EXPRESS ]   BAP1 [ SEEK ]   BAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)BAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8314
GTEX Portal (Tissue expression)BAP1
Human Protein AtlasENSG00000163930-BAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92560   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92560  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92560
Splice isoforms : SwissVarQ92560
Domains : Interpro (EBI)Peptidase_C12_UCH    Peptidase_C12_UCH_sf   
Domain families : Pfam (Sanger)Peptidase_C12 (PF01088)   
Domain families : Pfam (NCBI)pfam01088   
Conserved Domain (NCBI)BAP1
DMDM Disease mutations8314
Blocks (Seattle)BAP1
Human Protein Atlas [tissue]ENSG00000163930-BAP1 [tissue]
Peptide AtlasQ92560
IPIIPI00465087   IPI00908625   IPI00382831   IPI00796196   IPI00947312   IPI00946380   IPI00946816   
Protein Interaction databases
IntAct (EBI)Q92560
Ontologies - Pathways
Ontology : AmiGOregulation of cell growth  chromatin binding  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  cytosol  cellular protein modification process  ubiquitin-dependent protein catabolic process  peptidase activity  negative regulation of cell proliferation  response to inorganic substance  protein deubiquitination  protein deubiquitination  protein deubiquitination  PR-DUB complex  monoubiquitinated protein deubiquitination  monoubiquitinated histone H2A deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  thiol-dependent ubiquitinyl hydrolase activity  thiol-dependent ubiquitinyl hydrolase activity  negative regulation of transcription, DNA-templated  regulation of cell cycle  macrophage homeostasis  protein K48-linked deubiquitination  regulation of cytokine production involved in inflammatory response  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBIregulation of cell growth  chromatin binding  thiol-dependent ubiquitin-specific protease activity  thiol-dependent ubiquitin-specific protease activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  cytosol  cellular protein modification process  ubiquitin-dependent protein catabolic process  peptidase activity  negative regulation of cell proliferation  response to inorganic substance  protein deubiquitination  protein deubiquitination  protein deubiquitination  PR-DUB complex  monoubiquitinated protein deubiquitination  monoubiquitinated histone H2A deubiquitination  thiol-dependent ubiquitinyl hydrolase activity  thiol-dependent ubiquitinyl hydrolase activity  thiol-dependent ubiquitinyl hydrolase activity  negative regulation of transcription, DNA-templated  regulation of cell cycle  macrophage homeostasis  protein K48-linked deubiquitination  regulation of cytokine production involved in inflammatory response  positive regulation of protein targeting to mitochondrion  
REACTOMEQ92560 [protein]
REACTOME PathwaysR-HSA-5693565 [pathway]   
NDEx NetworkBAP1
Atlas of Cancer Signalling NetworkBAP1
Wikipedia pathwaysBAP1
Orthology - Evolution
GeneTree (enSembl)ENSG00000163930
Phylogenetic Trees/Animal Genes : TreeFamBAP1
Homologs : HomoloGeneBAP1
Homology/Alignments : Family Browser (UCSC)BAP1
Gene fusions - Rearrangements
Fusion : FusionGDB14978    3829    3830    3831    3832    3833    3834    3835    3836    39126    663   
Fusion : Fusion_HubBAP1--CCDC66    BAP1--DNAH1    BAP1--IFRD2    BAP1--KB-1507C5.2    BAP1--PBRM1    BAP1--PGK1    BAP1--PLXNB1    BAP1--RILP    BAP1--TCEA3    BAP1--TLE6    BAP1--ZBTB1    CCNI--BAP1    CIRBP--BAP1    GNL3--BAP1    HDGFRP3--BAP1   
P16--BAP1    PGK1--BAP1    RP11-155D18.11--BAP1    TOX4--BAP1   
Fusion : QuiverBAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BAP1
Exome Variant ServerBAP1
ExAC (Exome Aggregation Consortium)ENSG00000163930
GNOMAD BrowserENSG00000163930
Varsome BrowserBAP1
Genetic variants : HAPMAP8314
Genomic Variants (DGV)BAP1 [DGVbeta]
DECIPHERBAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBAP1 
ICGC Data PortalBAP1 
TCGA Data PortalBAP1 
Broad Tumor PortalBAP1
OASIS PortalBAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBAP1
Mutations and Diseases : HGMDBAP1
intOGen PortalBAP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch BAP1
DgiDB (Drug Gene Interaction Database)BAP1
DoCM (Curated mutations)BAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BAP1 (select a term)
NCG5 (London)BAP1
Cancer3DBAP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM603089    614327   
Orphanet3560    20737   
Genetic Testing Registry BAP1
NextProtQ92560 [Medical]
Target ValidationBAP1
Huge Navigator BAP1 [HugePedia]
snp3D : Map Gene to Disease8314
BioCentury BCIQBAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8314
Chemical/Pharm GKB GenePA25254
Clinical trialBAP1
canSAR (ICR)BAP1 (select the gene name)
DataMed IndexBAP1
Other database
PubMed245 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 21:03:29 CET 2019

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