Annotation Detail

Information
Associated Genes
GNA11
Associated Variants
GNA11 MUTATION
GNA11 MUTATION
Associated Disease
uveal melanoma
Source Database
CIViC Evidence
Description
Preclinical study in uveal melanoma cell lines. Cell lines (n=5) with GNAQ (92.1, Omm1.3, Mel270, Mel202) or GNA11 (Omm1) mutation were more sensitive to BRD4 inhibition with JQ1 than GNAQ/11 wild type (n=3) cell line.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1211
Gene URL
https://civic.genome.wustl.edu/links/genes/2308
Variant URL
https://civic.genome.wustl.edu/links/variants/506
Rating
1
Evidence Type
Predictive
Disease
Uveal Melanoma
Evidence Direction
Supports
Drug
JQ1
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
26397223
Drugs
Drug NameSensitivitySupported
JQ1Sensitivitytrue