BACH2 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @grandeGenomewideDiscoverySomatic2019,

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Overview

Mutations in this gene were first described in BL in 2019 by Grande et al.[@grandeGenomewideDiscoverySomatic2019]

Experimental Evidence

Driver mutations affecting this gene in BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@hunterNFkBSubunitCRel2016]

Relevance tier by entity

include:tables/table1_BACH2

Mutation incidence in large patient cohorts (GAMBL reanalysis)

BL

include:tables/BL_BACH2.md

Mutation pattern and selective pressure estimates

include:tables/dnds_BACH2.md

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr6 90981034 91016134 TSS NA

include:tables/browser_BACH2.md

Expression

include:tables/mermaid_BACH2.md

References