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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

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

JAK3 Expression

References