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.1

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2019-09-05 : Mottok : PMBL 2020-07-14 : Rushton : DLBCL

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL genemottokIntegrativeGenomicAnalysis2019b?
DLBCL 1-a aSHM target and high-confidence DLBCL gene1

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

References

1.
Rushton CK, Arthur SE, Alcaide M, Cheung M, Jiang A, Coyle KM, Cleary KLS, Thomas N, Hilton LK, Michaud N, Daigle S, Davidson J, Bushell K, Yu S, Rys RN, Jain M, Shepherd L, Marra MA, Kuruvilla J, Crump M, Mann K, Assouline S, Connors JM, Steidl C, Cragg MS, Scott DW, Johnson NA, Morin RD. Genetic and evolutionary patterns of treatment resistance in relapsed B-cell lymphoma. Blood Adv. 2020 Jul 14;4(13):2886–2898. PMCID: PMC7362366

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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