HIST1H1E - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reichelFlowSortingExome2015, @lohrDiscoveryPrioritizationSomatic2012, @krysiakRecurrentSomaticMutations2017, @grandeGenomewideDiscoverySomatic2019

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Overview

This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.[@lohrDiscoveryPrioritizationSomatic2012; @krysiakRecurrentSomaticMutations2017] Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.

Mutations in this gene were first described in DLBCL in 2013 by Morin et al.[@morinMutationalStructuralAnalysis2013] Mutations were subsequently reported in FL in 2017 by Krysiak et al[@krysiakRecurrentSomaticMutations2017] and in BL by Grande et al.[@grandeGenomewideDiscoverySomatic2019]

Relevance tier by entity

include:tables/table1_HIST1H1E

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Mutation pattern and selective pressure estimates

include:tables/dnds_HIST1H1E.md

HIST1H1E Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	26157090	G>T	A158S
chr6	26157096	A>C	K160Q
chr6	26157096	A>G	K160E
chr6	26157099	C>G	P161A
chr6	26157099	C>T	P161S
chr6	26157102	G>A	A162T
chr6	26157105	G>A	A163T
chr6	26157106	C>T	A163V
chr6	26157108	G>A	A164T
chr6	26157108	G>C	A164P
chr6	26157109	C>G	A164G
chr6	26157109	C>T	A164V
chr6	26157112	C>G	A165G
chr6	26157112	C>T	A165V
chr6	26157114	G>A	G166R
chr6	26157118	C>T	A167V
chr6	26157121	A>T	K168I
chr6	26157139	A>G	K174R

include:tables/browser_HIST1H1E.md

include:tables/mermaid_HIST1H1E.md