chr3:52435029:> Detail (hg19) (BAP1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:52,435,029-52,444,366 |
| hg38 | chr3:52,401,013-52,410,350 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| uveal melanoma | Vorinostat,Trichostatin A,Panobinostat,Valproic Acid | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 22038994 | Detail |
| malignant mesothelioma | Vorinostat,Mocetinostat,MC1568 | E |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 25970771 | Detail |
| clear cell renal cell carcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 5 | 23797736 | Detail | |
| clear cell renal cell carcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 5 | 23792563 | Detail | |
| renal cell carcinoma | Everolimus,Sunitinib | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 27751729 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Somatic and germline BAP1 mutations are associated with uveal melanoma. In this preclinical study, g... | CIViC Evidence | Detail |
| A siRNA screen identified BAP1 associated with HDAC1 and HDAC2 expression. HDAC2 or BAP1 depletion s... | CIViC Evidence | Detail |
| In patients with clear cell renal cell carcinoma, in a multivariate analysis those with mutations in... | CIViC Evidence | Detail |
| In patients with clear cell renal cell carcinoma, those with nonsilent mutations of BAP1 had worse o... | CIViC Evidence | Detail |
| This study evaluated the effects of everolimus and sunitinib on patients with metastatic renal cell ... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr3:52,435,029-52,444,366
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000460680.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/183
- Summary (CIViC Variant)
- BAP1 is a tumor suppressor gene, mutations in this gene have been observed in a number of cancers including melanoma, and renal cancers. These mutations generally lead to loss-of-function and mutations in the UHC domain of BAP1 have been shown to lead to structural instability and β-amyloid aggregation in models. Germline mutations are associated with an increased risk of tumorgenesis and can lead to the development of "atypical Spitz tumours (ASTs), cutaneous melanoma (CM), epithelioid malignant mesothelioma (MM) and clear cell RCC".
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