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FLASH GENE
Symbol BAP1 contributors: mct/npt/pgu - updated : 29-11-2016
HGNC name BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
HGNC id 950
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in breast cancer
tumoral   deletion    
in lung carcinoma
tumoral   deletion    
in uveal melanoma metastasis
tumoral somatic mutation     loss of function
in malignant pleural mesothelioma
tumoral germinal mutation      
in two putatively distinct cancer-related syndromes characterized predominantly by melanocytic tumors or mesothelioma, respectively, along with uveal melanoma
tumoral germinal mutation      
in melanocytic tumors
tumoral germinal mutation      
predispose to malignant mesothelioma
tumoral germinal mutation      
in familial nonsyndromic renal cell carcinomas (RCC)
tumoral       loss of function
in clear cell RCCs
tumoral       loss of function
restricted to the hematopoietic compartment is sufficient for the development of myeloid leukemia
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancer  
important target for anticancer drugs
cancereye 
BAP1 pathway may be a valuable therapeutic targetin uveal melanoma
ANIMAL & CELL MODELS
  • mouse Bap1 gene deletion is lethal during embryogenesis, but systemic or hematopoietic-restricted deletion in adults recapitulates features of human myelodysplastic syndrome (MDS)