--- 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 |1.34 | |DLBCL |Schmitz cohort|1.49 | |DLBCL |Reddy cohort |0.90 | |DLBCL |Chapuy cohort |1.28 | ## Mutation pattern and selective pressure estimates [[include:dnds_TRAF6.md]] ## TRAF6 Hotspots | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | | :---:| :---: | :--: | :---: | | chr11 | 36511924 | C>A | E345* | | chr11 | 36511915 | G>A | Q348* | | chr11 | 36511893 | C>T | W355* | | chr11 | 36511892 | C>T | W355* | [[include:browser_TRAF6.md]] ## Expression ![](images/gene_expression/TRAF6_by_pathology.svg) ## All Mutations [SP116630](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP116630.html) [SP193005](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193005.html) [SP193312](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193312.html) [SP59456](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP59456.html) [[include:mermaid_TRAF6.md]] ## References