Overview
Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.2 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.1
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.2
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene1 |
 |
1 | high-confidence DLBCL gene2 |
 |
1 | high-confidence FL gene2 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
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Mutation pattern and selective pressure estimates
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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 |
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Expression
EEF1A1 Expression
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