ACTG1 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @deschGenotypingCirculatingTumor2020, @witjesPrevalenceCytoplasmicActin2020, @spinaGeneticsNodalMarginal2016, @hubschmannMutationalMechanismsShaping2021,

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Overview

ACTG1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas. Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020]

Relevance tier by entity

include:tables/table1_ACTG1

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_ACTG1.md

FL

include:tables/FL_ACTG1.md

Mutation pattern and selective pressure estimates

include:tables/dnds_ACTG1.md

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr17 79478289 79479959 intron NA

include:tables/browser_ACTG1.md

Expression

include:tables/mermaid_ACTG1.md

References