ETS1 - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @morinFrequentMutationHistonemodifying2011, @paneaWholeGenomeLandscape2019,

Overview

ETS1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL implies the preferential accumulation of inactivating mutations.

Relevance tier by entity

include:tables/table1_ETS1.md

Warnings

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Mutation pattern and selective pressure estimates

include:tables/dnds_ETS1.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr11	128339774	128345731	intron	enhancer
chr11	128388492	128394163	TSS-2	active_promoter

ETS1 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr11	128391889	T>A	M1?
chr11	128391888	A>C	M1?
chr11	128391871	G>A	L7F
chr11	128391867	T>C	K8R
chr11	128391865	GC>CT	P9A
chr11	128391865	G>C	P9A
chr11	128391865	G>A	P9S
chr11	128391861	G>A	T10I
chr11	128391859	G>C	L11V
chr11	128391855	G>C	T12S
chr11	128391855	G>A	T12I
chr11	128391853	T>C	I13V
chr11	128391853	T>A	I13F
chr11	128391848	G>C	I14M
chr11	128391846	T>C	K15R
chr11	128391841	C>G	E17Q
chr11	128391841	C>A	E17*
chr11	128391824	C>G	E22D
chr11	128391823	G>A	L23F