MS4A1 - morinlab/LLMPP GitHub Wiki
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MS4A1
Overview
MS4A1 encodes the CD20 protein, which is the target of rituximab and other therapeutic monoclonal antibodies.
MS4A1 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.
In relapsed DLBCLs, MS4A1 is sometimes mutated and these mutations have been shown to reduce CD20 expression.[@rushtonGeneticEvolutionaryPatterns2020]
History
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timeline
title Publication timing
2019-09-05 : Mottok : PMBL
2020-07-14 : Rushton : 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[@mottokIntegrativeGenomicAnalysis2019b] |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
1-a |
aSHM target and high-confidence DLBCL gene[@rushtonGeneticEvolutionaryPatterns2020] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Entity |
source |
frequency (%) |
DLBCL |
GAMBL genomes |
1.53 |
DLBCL |
Schmitz cohort |
1.49 |
DLBCL |
Reddy cohort |
1.30 |
DLBCL |
Chapuy cohort |
0.43 |
Mutation pattern and selective pressure estimates
Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
BL |
Yes |
No |
2.434 |
29.43 |
DLBCL |
Yes |
No |
0.000 |
0.00 |
FL |
Yes |
No |
0.000 |
0.00 |
aSHM regions
chr_name |
hg19_start |
hg19_end |
region |
regulatory_comment |
chr11 |
60223385 |
60225310 |
TSS |
active_promoter |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/MS4A1.svg)
MS4A1 Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/MS4A1_by_pathology.svg)
References