---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
---
[[_TOC_]]

## Overview
Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.[@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]

Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]


## Relevance tier by entity

|Entity|Tier|Description                           |
|:------:|:----:|--------------------------------------|
|![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]|
|![DLBCL](images/icons/DLBCL_tier1.png) |1   |high-confidence DLBCL gene            [@hubschmannMutationalMechanismsShaping2021]|
|![FL](images/icons/FL_tier1.png)    |1   |high-confidence FL gene[@hubschmannMutationalMechanismsShaping2021]|

## Mutation incidence in large patient cohorts (GAMBL reanalysis)

[[include:DLBCL_EEF1A1.md]]
[[include:FL_EEF1A1.md]]

## Mutation pattern and selective pressure estimates

[[include: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 |


[[include:browser_EEF1A1.md]]

## Expression
## EEF1A1 Expression
![](images/gene_expression/EEF1A1_by_pathology.svg)
<!-- ORIGIN: reichelFlowSortingExome2015a -->
<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->
<!-- FL: hubschmannMutationalMechanismsShaping2021b -->
<!-- PMBL: reichelFlowSortingExome2015a -->
[[include:mermaid_EEF1A1.md]]

## References