ACTB - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @lohrDiscoveryPrioritizationSomatic2012, @witjesPrevalenceCytoplasmicActin2020, @wienandGenomicAnalysesFlowsorted2019,

TOC

Overview

ACTB is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020]

Relevance tier by entity

include:tables/table1_ACTB

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_ACTB.md

FL

include:tables/FL_ACTB.md

BL

include:tables/BL_ACTB

Mutation pattern and selective pressure estimates

include:tables/dnds_ACTB.md

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr7 5568297 5570856 TSS active_promoter

ACTB Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr7 5569176 G>A P38L
chr7 5569024 A>C M44R
chr7 5569018 C>T G46D
chr7 5569006 T>C K50R
chr7 5568978 C>A Q59H
chr7 5568975 G>C S60R
chr7 5568958 G>A T66I
chr7 5568955 A>G L67P
chr7 5568950 A>T Y69N
chr7 5568923 T>C N78D
chr7 5568920 A>C W79G

include:tables/browser_ACTB.md

Expression

include:tables/mermaid_ACTB.md

References