HIST1H2BC - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @mottokIntegrativeGenomicAnalysis2019, @lohrDiscoveryPrioritizationSomatic2012, @krysiakRecurrentSomaticMutations2017,

Overview

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. The relevance of HIST1H2AC mutations in DLBCL remains unclear. Selective pressure analysis did not identify this gene as significantly enriched for either missense or truncating mutations, indicating that many of these mutations may represent passengers.

Relevance tier by entity

include:tables/table1_HIST1H2BC.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Mutation pattern and selective pressure estimates

include:tables/dnds_HIST1H2BC.md

HIST1H2BC Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	26123951	C>T	G61D
chr6	26123944	C>T	M63I
chr6	26123939	G>A	S65F
chr6	26123939	G>C	S65C
chr6	26123924	A>G	I70T
chr6	26123923	T>C	I70M
chr6	26123922	A>C	F71V
chr6	26123920	A>C	F71L
chr6	26123919	C>G	E72Q
chr6	26123919	C>T	E72K
chr6	26123917	C>G	E72D
chr6	26123916	G>C	R73G
chr6	26123916	G>A	R73C
chr6	26123915	C>T	R73H
chr6	26123904	C>T	E77K
chr6	26123903	T>C	E77G
chr6	26123901	C>T	A78T
chr6	26123901	C>A	A78S
chr6	26123900	G>A	A78V
chr6	26123886	G>A	H83Y
chr6	26123881	G>C	Y84*
chr6	26123874	G>A	R87C

include:tables/browser_HIST1H2BC.md

Expression

include:tables/mermaid_HIST1H2BC.md