--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview Due to [minimal support](CAD#representative-mutation) in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL. ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|--------------------------------------| |![BL](images/icons/BL_tier2.png) |3 |Retired, Failed QC[@loveGeneticLandscapeMutations2012]| ## Warnings <> ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |Entity|source |frequency (%)| |:------:|:---------------------:|:-------------:| |BL |GAMBL genomes+capture|3.93 | |BL |Thomas cohort | NA | |BL |Panea cohort | NA | ## Mutation pattern and selective pressure estimates [[include:dnds_CAD.md]] ## CAD Hotspots | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | | :---:| :---: | :--: | :---: | | chr2 | 27455966 | T>A | Y983* | [[include:browser_CAD.md]] ## Expression ![](images/gene_expression/CAD_by_pathology.svg) ## Representative Mutation ![](primary/Love_CAD.svg) **Rating** ★ ☆ ☆ ☆ ☆ ## All Mutations [1064](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1064_reports.html) [1102](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1102_reports.html) [479](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/479_reports.html) [479](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/479_reports.html) [[include:mermaid_CAD.md]] ## References