RHOA - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
RHOA
History
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timeline
title Publication timing
2012-11-11 : Richter : BL
2013-01-01 : Zhang : DLBCL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
1 | high-confidence BL gene [@richterRecurrentMutationID32012a] |
 |
1 | high-confidence DLBCL gene[@zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017; @chapuyMolecularSubtypesDiffuse2018b] |
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
