---
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
---
[[_TOC_]]



## Relevance tier by entity

|Entity|Tier|Description                              |
|:------:|:----:|-----------------------------------------|
|![DLBCL](images/icons/DLBCL_tier2.png) |2   |relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021]|

## 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

[[include:dnds_RAC2.md]]

## RAC2 Hotspots

| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | 
 | :---:| :---: | :--: | :---: |
| chr22 | 37627984 | G>T | N92K |
| chr22 | 37627985 | T>C | N92S |
| chr22 | 37627985 | T>G | N92T |

[[include:browser_RAC2.md]]

## Expression
![](images/gene_expression/RAC2_by_pathology.svg)

## All Mutations

[SP59408](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP59408.html)
[SP116726](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP116726.html)
[SP59444](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP59444.html)
[SP124969](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP124969.html)
[SP124979](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP124979.html)

[[include:mermaid_RAC2.md]]

## References



<!-- ORIGIN: 33953289 -->
<!-- DLBCL: hubschmannMutationalMechanismsShaping2021b -->