--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @loveGeneticLandscapeMutations2012, --- [[_TOC_]] ## Overview Due to [minimal support](EML2#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 <<Warn("The variants reported in this gene in BL failed QC")>> ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |Entity|source |frequency (%)| |:------:|:---------------------:|:-------------:| |BL |GAMBL genomes+capture|1.62 | |BL |Thomas cohort | NA | |BL |Panea cohort | NA | ## Mutation pattern and selective pressure estimates [[include:dnds_EML2.md]] [[include:browser_EML2.md]] ## Expression ![](images/gene_expression/EML2_by_pathology.svg) <!-- ORIGIN: loveGeneticLandscapeMutations2012 --> <!-- BL: loveGeneticLandscapeMutations2012 --> ## Representative Mutation ![](primary/Love_EML2_50816396.png) **Rating** ★ ☆ ☆ ☆ ☆ ## All Mutations [1060](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1060_reports.html) [1096](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Love/1096_reports.html) [[include:mermaid_EML2.md]] ## References