ARID1A - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @barisicARID1AOrchestratesSWI2024, @wienandGenomicAnalysesFlowsorted2019, @rossiCodingGenomeSplenic2012, @loveGeneticLandscapeMutations2012, @zhangGeneticHeterogeneityDiffuse2013, @reddyGeneticFunctionalDrivers2017, @hubschmannMutationalMechanismsShaping2021, @krysiakRecurrentSomaticMutations2017

TOC

Overview

ARID1A (AT-rich interactive domain-containing protein 1A) is a gene that encodes a subunit of the SWI/SNF chromatin remodeling complex, which is involved in regulating DNA accessibility. Mutations in ARID1A are implicated in various cancers, including B-cell lymphomas. They are the most abundant in Burkitt lymphoma but also occur in FL and, to a lesser extent, DLBCL. Overall, components of SWI/SNF have been identified as an emerging theme in germinal centre-derived B-cell lymphomas but their role has not been thoroughly elucidated.[@lunningMutationChromatinModifiers2015]

Experimental Evidence

Driver mutations affecting this gene have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@barisicARID1AOrchestratesSWI2024]

Relevance tier by entity

include:tables/table1_ARID1A

Mutation incidence in large cohorts

include:tables/DLBCL_ARID1A.md include:tables/FL_ARID1A.md include:tables/BL_ARID1A.md

Mutation pattern and selective pressure estimates

include:tables/dnds_ARID1A.md

include:tables/browser_ARID1A.md

Expression

include:tables/mermaid_ARID1A.md

References