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
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL genereichelFlowSortingExome2015a? |
 |
1 | high-confidence DLBCL genehubschmannMutationalMechanismsShaping2021b? |
 |
1 | high-confidence FL genehubschmannMutationalMechanismsShaping2021b? |
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
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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
## References
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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