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rdmorin edited this page Jul 4, 2024 · 17 revisions

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

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
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
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Relevance tier by entity

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

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