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 |
![PMBL](https://github.com/morinlab/LLMPP/wiki/images/icons/PMBL_tier1.png) |
1 |
high-confidence PMBL/cHL/GZL gene |
![BL](https://github.com/morinlab/LLMPP/wiki/images/icons/BL_tier1.png) |
1 |
high-confidence BL gene [@richterRecurrentMutationID32012a] |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
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
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/RHOA_NM_001664.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/RHOA.svg)
RHOA Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/RHOA_by_pathology.svg)
References