chr3:52401013:> Detail (hg38) (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

DescrptionSourceLinks
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
hg38
Position
chr3:52,401,013-52,410,350
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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