--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021] ## 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 |2.29 | |DLBCL |Schmitz cohort|1.70 | |DLBCL |Reddy cohort |1.80 | |DLBCL |Chapuy cohort |1.28 | ## Mutation pattern and selective pressure estimates [[include:dnds_DNM2.md]] ## DNM2 Hotspots | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | | :---:| :---: | :--: | :---: | | chr19 | 10934492 | G>A | E604K | [[include:browser_DNM2.md]] ## Expression ![](images/gene_expression/DNM2_by_pathology.svg) ## All Mutations [SP124975](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP124975.html) [SP116624](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP116624.html) [SP59412](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP59412.html) [SP124969](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP124969.html) [SP116649](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP116649.html) [SP124975](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP124975.html) [SP193130](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193130.html) [[include:mermaid_DNM2.md]] ## References