EEF1A1 - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @hubschmannMutationalMechanismsShaping2021, @reichelFlowSortingExome2015, @chapuyMolecularSubtypesDiffuse2018

Overview

Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in PMBL by Reichel et al, DLBCL by Chapuy et al and FL by Hubschmann et al.[@reichelFlowSortingExome2015; @chapuyMolecularSubtypesDiffuse2018; @hubschmannMutationalMechanismsShaping2021] 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.[@reichelFlowSortingExome2015]

Relevance tier by entity

include:tables/table1_EEF1A1.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_EEF1A1.md

FL

include:tables/FL_EEF1A1.md

Mutation pattern and selective pressure estimates

include:tables/dnds_EEF1A1.md

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