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

## 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](https://github.com/morinlab/LLMPP/wiki/ashm) 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]


## Relevance tier by entity

|Entity|Tier|Description               |
|:------:|:----:|--------------------------|
|![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene[@mottokIntegrativeGenomicAnalysis2019]|
|![DLBCL](images/icons/DLBCL_tier1.png) |1 | aSHM target and high-confidence DLBCL gene[@rushtonGeneticEvolutionaryPatterns2020]|

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

[[include:DLBCL_MS4A1.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_MS4A1.md]]

## aSHM regions

|chr_name|hg19_start|hg19_end|region                                                                                    |regulatory_comment|
|:--------:|:----------:|:--------:|:------------------------------------------------------------------------------------------:|:------------------:|
|chr11   |60223385  |60225310|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr11%3A60223385%2D60225310)|active_promoter   |


[[include:browser_MS4A1.md]]

## Expression
![](images/gene_expression/MS4A1_by_pathology.svg)

[[include:mermaid_MS4A1.md]]

## References
<!-- ORIGIN: mottokIntegrativeGenomicAnalysis2019b -->
<!-- DLBCL: rushtonGeneticEvolutionaryPatterns2020 -->
<!-- PMBL: mottokIntegrativeGenomicAnalysis2019b -->