Annotation Detail
Information
- Associated Genes
- BAP1
- Associated Variants
-
BAP1 ALTERNATIVE TRANSCRIPT (ATI)
BAP1 ALTERNATIVE TRANSCRIPT (ATI) - Associated Disease
- malignant mesothelioma
- Source Database
- CIViC Evidence
- Description
- Novel alternative splice isoform of BAP1 (BAP1Δ) that misses part of the catalytic domain showed reduced deubiquitinating activity compared with full-length BAP1. MPM cell lines expressing more than 20% of BAP1Δ are more sensitive to olaparib (a PARP1 inhibitor), and this sensitivity is enhanced when olaparib treatment is combined with GDC0980 (a dual PI3K-mTOR inhibitor).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5929
- Gene URL
- https://civic.genome.wustl.edu/links/genes/70
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2211
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Malignant Mesothelioma
- Evidence Direction
- Supports
- Drug
- Olaparib,Apitolisib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 28389374
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Apitolisib | Sensitivity | true |
| Olaparib | Sensitivity | true |