JAK3 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017, @zhangGeneticHeterogeneityDiffuse2013,
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 | 1.34 |
| DLBCL | Schmitz cohort | 1.28 |
| DLBCL | Reddy cohort | 1.00 |
| DLBCL | Chapuy cohort | NA |
Mutation pattern and selective pressure estimates
include:tables/browser_JAK3.md
Expression
include:tables/mermaid_JAK3.md