RHOA
History
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timeline
title Publication timing
2001-07-19 : Pasqualucci : DLBCL
2012-11-11 : Richter : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 1 | high-confidence BL gene | |
| 1 | high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 9.47 |
| BL | Thomas cohort | 8.10 |
| BL | Panea cohort | 12.90 |
| DLBCL | GAMBL genomes | 3.06 |
| DLBCL | Schmitz cohort | 3.62 |
| DLBCL | Reddy cohort | 3.30 |
| DLBCL | Chapuy cohort | 5.13 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 88.993 | 0 |
| DLBCL | No | Yes | 52.294 | 0 |
| FL | No | No | 31.528 | 0 |
RHOA Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 49413010 | G>A | R5W |
| chr3 | 49413009 | C>T | R5Q |
| chr3 | 49412923 | A>C | Y34D |
| chr3 | 49412922 | T>A | Y34F |
| chr3 | 49412899 | A>G | Y42H |
| chr3 | 49412898 | T>G | Y42S |
| chr3 | 49412898 | T>C | Y42C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
RHOA Expression
References
- Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas. Nature. 2001 Jul 19;412(6844):341–346. PMID: 11460166
- Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, Adam-Klages S, Apic G, Claviez A, Hasenclever D, Hovestadt V, Hornig N, Korbel JO, Kube D, Langenberger D, Lawerenz C, Lisfeld J, Meyer K, Picelli S, Pischimarov J, Radlwimmer B, Rausch T, Rohde M, Schilhabel M, Scholtysik R, Spang R, Trautmann H, Zenz T, Borkhardt A, Drexler HG, Möller P, MacLeod RAF, Pott C, Schreiber S, Trümper L, Loeffler M, Stadler PF, Lichter P, Eils R, Küppers R, Hummel M, Klapper W, Rosenstiel P, Rosenwald A, Brors B, Siebert R, ICGC MMML-Seq Project. Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet. 2012 Dec;44(12):1316–1320. PMID: 23143595

