RAC2
History
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timeline
title Publication timing
2021-05-05 : Hübschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in DLBCL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.15 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 1.20 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 9.926 | 0 |
| DLBCL | No | No | 6.256 | 0 |
| FL | No | No | 0.000 | 0 |
RAC2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr22 | 37627984 | G>T | N92K |
| chr22 | 37627985 | T>C | N92S |
| chr22 | 37627985 | T>G | N92T |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
RAC2 Expression
All Mutations
SP59408 SP116726 SP59444 SP59404 SP124969 SP124979
References
- 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. PMCID: PMC8257491


