RHOA

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-01-01 : Zhang : 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 generichterRecurrentMutationID32012a?
DLBCL 1 high-confidence DLBCL gene1

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

1.
Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proceedings of the National Academy of Sciences of the United States of America. 2013;110:1398–1403. PMCID: PMC3557051