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

## 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]



## Relevance tier by entity

|Entity|Tier|Description               |
|:------:|:----:|--------------------------|
|![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene|
|![BL](images/icons/BL_tier1.png)    |1[@dengSMARCA4HaploinsufficientCell2024]   |high-confidence BL gene   [@richterRecurrentMutationID32012]|
|![DLBCL](images/icons/DLBCL_tier1.png) |1[@dengSMARCA4HaploinsufficientCell2024]   |high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012]|
|![FL](images/icons/FL_tier1.png)    |1   |high-confidence FL gene   [@krysiakRecurrentSomaticMutations2017]|
|![MCL](images/icons/MCL_tier1.png)   |1   |high-confidence MCL gene  [@nadeuGenomicEpigenomicInsights2020]|

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

[[include:DLBCL_SMARCA4.md]]
[[include:FL_SMARCA4.md]]
[[include:BL_SMARCA4.md]]

## Mutation pattern and selective pressure estimates

[[include:dnds_SMARCA4.md]]

[[include:browser_SMARCA4.md]]

## Expression
![](images/gene_expression/SMARCA4_by_pathology.svg)
<!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 -->
<!-- MCL: nadeuGenomicEpigenomicInsights2020b -->
<!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 -->
<!-- FL: krysiakRecurrentSomaticMutations2017b -->
<!-- BL: richterRecurrentMutationID32012a -->

[[include:mermaid_SMARCA4.md]]

## References