JAK3 - morinlab/LLMPP GitHub Wiki
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JAK3
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.
History
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timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
Relevance tier by entity
Entity | Tier | Description |
---|---|---|
![]() |
2 | relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013] |
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
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | No | No | 1.034 | 0 |
DLBCL | No | No | 0.000 | 0 |
FL | No | No | 0.000 | 0 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38