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Gene : BAP1 Homo sapiens

Name  ? BRCA1 associated protein 1 Cytological Location  3p21.1
Brief Description  BRCA1 associated protein 1
Description  This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
  • synonyms:
  • ubiquitin carboxy-terminal hydrolase,
  • OTTHUMG00000158392,
  • hucep-6,
  • BAP1,
  • UCHL2,
  • NM_004656,
  • KIAA0272,
  • BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase),
  • AF045581,
  • HGNC:950,
  • hucep-6,
  • HUCEP-13,
  • UCHL2,
  • uc003ddx.5
  • identifiers:
  • 8314,
  • ENSG00000163930,
  • BAP1

Genome feature

Region: gene ? Length: 9027  
Location: 3:52401004-52410030 reverse strand Cyto location: 3p21.1

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



242 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results