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EEF1A1.md
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| 1 | 1 | # EEF1A1 |
| 2 | +## Overview |
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| 3 | +Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.<sup>1</sup> |
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| 2 | 4 | |
| 3 | 5 | ## Relevance tier by entity |
| 4 | 6 | |
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| 25 | 27 | |DLBCL |No |No | 3.556 |24.091 | |
| 26 | 28 | |FL |No |Yes |47.451 | 0.000 | |
| 27 | 29 | |
| 28 | - |
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| 29 | -> [!NOTE] |
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| 30 | -> First described in DLBCL in 2021 by [Mosquera Orgueira A](https://pubmed.ncbi.nlm.nih.gov/33945543). First described in FL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289) |
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| 31 | - |
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| 32 | - |
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| 33 | 30 | ## EEF1A1 Hotspots |
| 34 | 31 | |
| 35 | 32 | | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
| ... | ... | @@ -44,3 +41,6 @@ View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAM |
| 44 | 41 | View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1_hg38.html) |
| 45 | 42 | |
| 46 | 43 |  |
| 44 | + |
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| 45 | +## References |
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| 46 | +1. *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.* |