ETS1

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.

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2011-07-27 : Morin : DLBCL 2019-09-26 : Panea : BL

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene
	1-a	aSHM target and high-confidence DLBCL gene
	2-F	Failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	4.59
DLBCL	Schmitz cohort	7.87
DLBCL	Reddy cohort	4.40
DLBCL	Chapuy cohort	5.56
BL	GAMBL genomes+capture	7.62
BL	Thomas cohort	7.60
BL	Panea cohort	11.90

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
DLBCL	Yes	No	2.987	0.000
FL	Yes	No	5.163	25.463
BL	Yes	No	5.097	18.417

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ETS1 Expression

Representative Mutations

BL²

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References

Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature. 2011 Jul 27;476(7360):298-303. doi: 10.1038/nature10351. PMID: 21796119; PMCID: PMC3210554.
Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;