---

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

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
	1	high-confidence PMBL/cHL/GZL gene
	1-EE[@dengSMARCA4HaploinsufficientCell2024]	high-confidence BL gene [@richterRecurrentMutationID32012a]
	1-EE[@dengSMARCA4HaploinsufficientCell2024]	high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012a]
	1	high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b]
	1	high-confidence MCL gene [@nadeuGenomicEpigenomicInsights2020b]

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