HIST1H2AM - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @paneaWholeGenomeLandscape2019, @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 HIST1H2AM 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_HIST1H2AM.md

Warnings

<<Warn("The variants reported in this gene in BL failed QC")>>

See below or the study page for more information

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Mutation pattern and selective pressure estimates

include:tables/dnds_HIST1H2AM.md

HIST1H2AM Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	27860660	T>C	N90D
chr6	27860658	G>C	N90K
chr6	27860652	C>G	E92D
chr6	27860652	C>A	E92D
chr6	27860649	C>G	E93D
chr6	27860648	G>C	L94V
chr6	27860648	G>A	L94F
chr6	27860644	T>C	N95S
chr6	27860643	G>C	N95K
chr6	27860640	C>G	K96N
chr6	27860640	C>A	K96N
chr6	27860639	G>C	L97V
chr6	27860636	G>C	L98V
chr6	27860636	G>A	L98F
chr6	27860633	C>G	G99R
chr6	27860632	C>G	G99A
chr6	27860627	C>G	V101L
chr6	27860627	C>T	V101I
chr6	27860627	C>A	V101F
chr6	27860624	T>A	T102S
chr6	27860623	G>C	T102S
chr6	27860623	G>A	T102I
chr6	27860560	C>G	S123T
chr6	27860559	G>C	S123R
chr6	27860549	C>G	A127P
chr6	27860548	G>C	A127G
chr6	27860548	G>A	A127V
chr6	27860542	C>T	G129D
chr6	27860538	C>G	K130N

include:tables/browser_HIST1H2AM.md

include:tables/mermaid_HIST1H2AM.md