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

ACTB

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.[@witjesPrevalenceCytoplasmicActin2020b]

History

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timeline
    title Publication timing
      2012-03-06 : Lohr : DLBCL
      2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
      2019-12-10 : Wienand : PMBL
2021-05-05 : Hubschmann : DLBCL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence MZL gene
	1	high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019b]
	1	high-confidence DLBCL gene, hypermutated[@lohrDiscoveryPrioritizationSomatic2012a]
	1	high-confidence FL gene, hypermutated

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	9.18
DLBCL	Schmitz cohort	9.80
DLBCL	Reddy cohort	6.30
DLBCL	Chapuy cohort	12.40
FL	GAMBL genomes	5.31

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	Yes	No	5.217	0
DLBCL	Yes	No	3.582	0
FL	Yes	No	10.476	0

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ACTB Expression

References