RHOA
History
| 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 |
[!NOTE] First described in DLBCL in 2001 by Pasqualucci L
## 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 1.
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 2. 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


