Annotation Detail

Information
Associated Genes
JAK1
Associated Variants
JAK1 p.Ser703Ile (p.S703I) ( ENST00000672751.2, ENST00000673046.1, ENST00000673246.2, ENST00000699312.1, ENST00000671929.2, ENST00000699259.1, ENST00000673254.1, ENST00000672574.2, ENST00000672179.2, ENST00000671954.2, ENST00000699310.1, ENST00000699262.1, ENST00000699260.1, ENST00000342505.5, ENST00000672247.2, ENST00000672434.2 )
JAK1 p.Ser703Ile (p.S703I) ( ENST00000342505.5, ENST00000672179.2, ENST00000672247.2, ENST00000672434.2, ENST00000672574.2, ENST00000672751.2, ENST00000673046.1, ENST00000673246.2, ENST00000671929.2, ENST00000671954.2, ENST00000673254.1, ENST00000699259.1, ENST00000699260.1, ENST00000699262.1, ENST00000699310.1, ENST00000699312.1 )
Associated Disease
hepatocellular carcinoma
Source Database
CIViC Evidence
Description
A JAK1 S703I mutation was found to activate the JAK-STAT signaling pathway in vitro and in vivo in hepatocellular carcinoma. Ruxolitinib causes the suppression of JAK-STAT signaling pathway in PDX models bearing JAK1 S703I mutation and delays tumor progression.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1900
Gene URL
https://civic.genome.wustl.edu/links/genes/3090
Variant URL
https://civic.genome.wustl.edu/links/variants/822
Rating
4
Evidence Type
Predictive
Disease
Hepatocellular Carcinoma
Evidence Direction
Supports
Drug
Ruxolitinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
26701727
Drugs
Drug NameSensitivitySupported
RuxolitinibSensitivitytrue