RHOA
History
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timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2012-11-11 : Richter : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 1 | high-confidence BL generichterRecurrentMutationID32012a? | |
| 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


