BAP1 Chromosome 3
BRCA1 associated deubiquitinase 1
Upload your DNA to see your personal genotypes for variants in BAP1.
What This Gene Does
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]
Gene Info
Gene Group
Ubiquitin C-terminal hydrolases
Locus Type
gene with protein product
Location
3p21.1
Ensembl
ENSG00000163930
Associated Conditions (25)
Hereditary cancer-predisposing syndrome
BAP1-related tumor predisposition syndrome
Melanoma
uveal
susceptibility to
2
Kury-Isidor syndrome
Hereditary cancer
BAP1-related disorder
Uveal melanoma
BAP1-associated neurodevelopmental disorder
Neurodevelopmental disorder
See cases
Medulloblastoma
Neoplasm
Malignant tumor of esophagus
Hepatocellular carcinoma
Ewing sarcoma
Ganglioglioma
Clear cell carcinoma of kidney
+5 more conditions
Key Variants
RS1033651300
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1035262201
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1040041070
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1041287605
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503728
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503733
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503737
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503739
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503748
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS1060503750
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1064795208
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
Health Risk
RS112194987
Conflicting classifications of pathogenicity
BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (611)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2153227087 | Health Risk | Likely pathogenic | — |
| RS2153227484 | Health Risk | Likely pathogenic | Kury-Isidor syndrome, Kury-Isidor syndrome |
| RS2153227827 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2153227879 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2153227978 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Melanoma, Neoplasm |
| RS2153228069 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2153228144 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2153228146 | Health Risk | Likely pathogenic | — |
| RS2153228161 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2153228340 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2153228558 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2153228616 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2153228682 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Kury-Isidor syndrome, Neurodevelopmental disorder |
| RS2153228694 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2471342655 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471344237 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2471347358 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2471351500 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471356841 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2471363943 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS2471365846 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS587776878 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS774573926 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS878854741 | Health Risk | Likely pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS9848343 | Health Risk | Likely pathogenic | Clear cell carcinoma of kidney, BAP1-related tumor predisposition syndrome, Clear cell carcinoma of kidney |
| RS1060503726 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1060503727 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1060503731 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1060503732 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1060503735 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1060503743 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1060503744 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1064795638 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1064795786 | Health Risk | Pathogenic | — |
| RS1193212091 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1253151209 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1265456777 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1322319973 | Health Risk | Pathogenic | — |
| RS1327490224 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1351986946 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, Melanoma |
| RS1364087255 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1391804672 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS142059527 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1430317959 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS143901408 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1443225407 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome |
| RS1467015377 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1553644659 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |
| RS1553644815 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS1553644922 | Health Risk | Pathogenic | BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome |