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

TMSB4X

Overview

TMSB4X is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

History

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timeline
    title Publication timing
2013-01-01 : Zhang : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene
	1-a	aSHM target and high-confidence DLBCL gene [@zhangGeneticHeterogeneityDiffuse2013; @albuquerqueEnhancingKnowledgeDiscovery2017a]
	1-a	aSHM target and high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	12.43
DLBCL	Schmitz cohort	20.85
DLBCL	Reddy cohort	13.11
DLBCL	Chapuy cohort	18.38
FL	GAMBL genomes	4.39

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	No	0.000	0.000
DLBCL	Yes	Yes	23.522	254.537
FL	Yes	Yes	60.545	310.498

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chrX	12993308	12994511	intron	active_promoter

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

TMSB4X Expression

References