TMSB4X - morinlab/LLMPP GitHub Wiki
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 |
![PMBL](https://github.com/morinlab/LLMPP/wiki/images/icons/PMBL_tier1.png) |
1 |
high-confidence PMBL/cHL/GZL gene |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
1-a |
aSHM target and high-confidence DLBCL gene [@zhangGeneticHeterogeneityDiffuse2013; @albuquerqueEnhancingKnowledgeDiscovery2017a] |
![FL](https://github.com/morinlab/LLMPP/wiki/images/icons/FL_tier1.png) |
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
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/TMSB4X_NM_021109.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/TMSB4X.svg)
TMSB4X Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/TMSB4X_by_pathology.svg)
References