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

HIST1H2AC

This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2013-08-15 : Morin : DLBCL
      2017-01-26 : Krysiak : FL
      2018-05-01 : Chapuy : DLBCL
      2021-05-05 : Hubschmann : DLBCL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013; @chapuyMolecularSubtypesDiffuse2018b; @hubschmannMutationalMechanismsShaping2021b]
	1	high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	5.16
DLBCL	Schmitz cohort	6.17
DLBCL	Reddy cohort	3.40
DLBCL	Chapuy cohort	6.41
FL	GAMBL genomes	2.31

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	1.742	0.000
DLBCL	No	No	3.090	20.364
FL	No	No	1.715	0.000

HIST1H2AC Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	26124549	G>T	R30L
chr6	26124560	CTGCTCCG>-	L34*
chr6	26124578	T>G	Y40D
chr6	26124581	G>A	A41T
chr6	26124690	C>G	T77S
chr6	26124709	C>G	H83Q
chr6	26124737	G>A	E93K
chr6	26124740	C>G	L94V
chr6	26124740	C>T	L94F
chr6	26124767	A>G	I103V
chr6	26124769	T>G	I103M
chr6	26124770	G>A	A104T
chr6	26124770	G>C	A104P
chr6	26124771	C>G	A104G
chr6	26124771	C>T	A104V
chr6	26124791	A>G	N111D
chr6	26124800	G>A	A114T
chr6	26124819	A>G	K120R
chr6	26124832	CC>TT	H125Y

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

HIST1H2AC Expression

References