RHOA

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2001-07-19 : Pasqualucci : DLBCL 2012-11-11 : Richter : BL
## Relevance tier by entity
Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene
BL 1 high-confidence BL gene
DLBCL 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

image

View all variants in GenomePaint hg19 or hg38

image ## RHOA Expression image ## 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