| Symbol
| BAP1
| contributors: mct/npt/pgu - updated : 08-03-2022
|
| HGNC name
| BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
| HGNC id
| 950
|
| corresponding disease(s)
|
KURIS
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
| LOH
|
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| |
in breast cancer | | tumoral
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| deletion
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| |
in lung carcinoma | | tumoral
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| deletion
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in uveal melanoma metastasis  | | tumoral
| somatic mutation
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| loss of function
| |
in malignant pleural mesothelioma | | tumoral
| germinal mutation
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|
| |
in two putatively distinct cancer-related syndromes characterized predominantly by melanocytic tumors or mesothelioma, respectively, along with uveal melanoma | | tumoral
| germinal mutation
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|
| |
in melanocytic tumors | | tumoral
| germinal mutation
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|
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| |
predispose to malignant mesothelioma | | tumoral
| germinal mutation
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| |
in familial nonsyndromic renal cell carcinomas (RCC) | | tumoral
|
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| loss of function
| |
in clear cell RCCs | | tumoral
|
|
|
| loss of function
| |
restricted to the hematopoietic compartment is sufficient for the development of myeloid leukemia | | tumoral
| germinal mutation
|
|
|
| |
in bilateral uveal melanoma | |
Variant & Polymorphism
| 
| |
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | | | |
| important target for anticancer drugs | | cancer | eye | | |
| BAP1 pathway may be a valuable therapeutic targetin uveal melanoma |
| | | |
|
| mouse Bap1 gene deletion is lethal during embryogenesis, but systemic or hematopoietic-restricted deletion in adults recapitulates features of human myelodysplastic syndrome (MDS) |