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 |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@mottokIntegrativeGenomicAnalysis2019b] |
 |
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
MS4A1 Expression
