Table of Contents

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

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
PMBL 1 High-confidence PMBL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 13 0.0119 [0.0055,0.0184]
DLBCL GAMBL with Reddy 2,088 26 0.0125 [0.0077,0.0172]
DLBCL BC 231 4 0.0173 [5e-04,0.0341]
DLBCL Dana-Farber 303 2 0.0066 [0,0.0157]
DLBCL NCI 470 7 0.0149 [0.0039,0.0258]
DLBCL Reddy 999 13 0.0130 [0.006,0.02]
DLBCL DLBCL_ICGC 85 0 0.0012 [0,0.0085]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 1.7896 21.5456 0.8481
FL 4.2506 0.0000 1.0000
DLBCL 2.2283 9.8383 0.0046

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr11 60223385 60225310 TSS active_promoter

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

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

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
2.
Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood. 2019 Sep 5;134(10):802–813.

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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