SMARCA4 - morinlab/LLMPP GitHub Wiki

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @richterRecurrentMutationID32012, @dengSMARCA4HaploinsufficientCell2024, @lohrDiscoveryPrioritizationSomatic2012, @krysiakRecurrentSomaticMutations2017, @nadeuGenomicEpigenomicInsights2020, @lunningMutationChromatinModifiers2015,

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Overview

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. [@lunningMutationChromatinModifiers2015]

Experimental Evidence

Driver mutations affecting this gene in DLBCL/FL/BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@fernandoFunctionalCharacterizationSMARCA42020]

Relevance tier by entity

include:tables/table1_SMARCA4.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_SMARCA4.md

FL

include:tables/FL_SMARCA4.md

BL

include:tables/BL_SMARCA4.md

MCL

include:tables/MCL_SMARCA4.md

Mutation pattern and selective pressure estimates

include:tables/dnds_SMARCA4.md

include:tables/browser_SMARCA4.md

Expression

include:tables/mermaid_SMARCA4.md

References