JAK1 - morinlab/LLMPP GitHub Wiki
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JAK1
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
2019-09-05 : Mottok : PMBL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@mottokIntegrativeGenomicAnalysis2019b] |
 |
2 | relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013] |
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
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.067 | 0 |
| DLBCL | No | No | 4.294 | 0 |
| FL | No | No | 0.000 | 0 |
JAK1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 65301158 | C>A | G1097V |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
JAK1 Expression
