--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview Mutations in this gene were first described in DLBCL in 2013 by Morin et al.[@morinMutationalStructuralAnalysis2013] ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|-----------------------------------------| |![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established[@morinMutationalStructuralAnalysis2013]| ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |Entity|source |frequency (%)| |:------:|:--------------:|:-------------:| |DLBCL |GAMBL genomes |5.16 | |DLBCL |Schmitz cohort|8.72 | |DLBCL |Reddy cohort |4.00 | |DLBCL |Chapuy cohort |4.27 | ## Mutation pattern and selective pressure estimates [[include:dnds_CNTNAP5.md]] [[include:browser_CNTNAP5.md]] ## Expression ![](images/gene_expression/CNTNAP5_by_pathology.svg) ## All Mutations[@morinMutationalStructuralAnalysis2013] [RG014](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Morin_2013/RG014.html) [RG054](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Morin_2013/RG054.html) [RG115](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Morin_2013/RG115.html) [RG136](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Morin_2013/RG136.html) [[include:mermaid_CNTNAP5.md]] ## References