EEF1A1

Overview

Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.¹ This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations. Paradoxically, one study showed that EEF1A1 knock down reduced proliferation in vitro and in xenograft experiments.²

History

Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2015-02-12 : Reichel : PMBL 2021-05-05 : H : FL

## Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene
	1	high-confidence DLBCL gene
	1	high-confidence FL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
DLBCL	GAMBL genomes	4.78
DLBCL	Schmitz cohort	2.98
DLBCL	Reddy cohort	2.50
DLBCL	Chapuy cohort	4.70
FL	GAMBL genomes	11.32

Mutation pattern and selective pressure estimates

Entity	aSHM	Significant selection	dN/dS (missense)	dN/dS (nonsense)
BL	No	No	6.692	0.000
DLBCL	No	No	3.556	24.091
FL	No	Yes	47.451	0.000

## EEF1A1 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	74229191	C>T	A65T
chr6	74229191	C>G	A65P
chr6	74229190	G>C	A65G
chr6	74229188	C>T	E66K
chr6	74229187	T>A	E66V
chr6	74229179	G>C	R69G
chr6	74229179	G>A	R69C
chr6	74229094	T>A	D97V
chr6	74229095	C>T	D97N

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

References

Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L; ICGC MMML-Seq consortium; ICGC DE-Mining consortium; BLUEPRINT consortium; Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002-2016. doi: 10.1038/s41375-021-01251-z. Epub 2021 May 5. PMID: 33953289; PMCID: PMC8257491.
Gong T, Shuang Y. Expression and Clinical Value of Eukaryotic Translation Elongation Factor 1A1 (EEF1A1) in Diffuse Large B Cell Lymphoma. Int J Gen Med. 2021 Oct 27;14:7247-7258. doi: 10.2147/IJGM.S324645. PMID: 34737619; PMCID: PMC8559353. ## EEF1A1 Expression