MS4A1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @mottokIntegrativeGenomicAnalysis2019, @rushtonGeneticEvolutionaryPatterns2020,
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]
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@rushtonGeneticEvolutionaryPatterns2020]
Relevance tier by entity
include:tables/table1_MS4A1.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr11 | 60223385 | 60225310 | TSS | active_promoter |
include:tables/browser_MS4A1.md
Expression
include:tables/mermaid_MS4A1.md