SMARCA4

SMARCA4 is a member of the SWI/SNF family of proteins. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which can allow expression of genes repressed by chromatin. Overall, components of SWI/SNF have been identified as an emerging theme in germinal centre-derived B-cell lymphomas.lunningMutationChromatinModifiers2015b?

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-11-11 : Richter : BL 2013-01-01 : Zhang : DLBCL 2017-01-26 : Krysiak : FL 2020-09-17 : Nadeu : MCL

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene
BL 1-EE1 high-confidence BL generichterRecurrentMutationID32012a?
DLBCL 1-EE1 high-confidence DLBCL genelohrDiscoveryPrioritizationSomatic2012a?
FL 1 high-confidence FL genekrysiakRecurrentSomaticMutations2017b?
MCL 1 high-confidence MCL genenadeuGenomicEpigenomicInsights2020b?

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 22.63
BL Thomas cohort 17.80
BL Panea cohort 18.80
DLBCL GAMBL genomes 3.25
DLBCL Schmitz cohort 2.98
DLBCL Reddy cohort 3.30
DLBCL Chapuy cohort 2.14
FL GAMBL genomes 4.16
MCL GAMBL genomes 4.74

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No Yes 13.014 7.632
DLBCL No No 3.876 0.000
FL No No 11.081 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SMARCA4 Expression

References

1.
Deng Q, Lakra P, Gou P, Yang H, Meydan C, Teater M, Chin C, Zhang W, Dinh T, Hussein U, Li X, Rojas E, Liu W, Reville PK, Kizhakeyil A, Barisic D, Parsons S, Wilson A, Henderson J, Scull B, Gurumurthy C, Vega F, Chadburn A, Cuglievan B, El-Mallawany NK, Allen C, Mason C, Melnick A, Green MR. SMARCA4 is a haploinsufficient B cell lymphoma tumor suppressor that fine-tunes centrocyte cell fate decisions. Cancer Cell. 2024 Apr 8;42(4):605–622.e11. PMCID: PMC11003852

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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