RAC2 - morinlab/LLMPP GitHub Wiki
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RAC2
History
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timeline
title Publication timing
2021-05-05 : Hübschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.15 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 1.20 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 9.926 | 0 |
| DLBCL | No | No | 6.256 | 0 |
| FL | No | No | 0.000 | 0 |
RAC2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr22 | 37627984 | G>T | N92K |
| chr22 | 37627985 | T>C | N92S |
| chr22 | 37627985 | T>G | N92T |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
RAC2 Expression
All Mutations
SP59408 SP116726 SP59444 SP124969 SP124979