JAK1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @zhangGeneticHeterogeneityDiffuse2013, @mottokIntegrativeGenomicAnalysis2019, @reddyGeneticFunctionalDrivers2017,
Overview
Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.49 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | 2.14 |
Mutation pattern and selective pressure estimates
JAK1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 65301158 | C>A | G1097V |
include:tables/browser_JAK1.md
Expression
include:tables/mermaid_JAK1.md