--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation. ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|-----------------------------------------| |![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013]| ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |Entity|source |frequency (%)| |:------:|:--------------:|:-------------:| |DLBCL |GAMBL genomes |0.57 | |DLBCL |Schmitz cohort|1.91 | |DLBCL |Reddy cohort |1.80 | |DLBCL |Chapuy cohort |0.85 | ## Mutation pattern and selective pressure estimates [[include:dnds_BTBD3.md]] [[include:browser_BTBD3.md]] ## Expression ![](images/gene_expression/BTBD3_by_pathology.svg) ## Representative Mutations ![](primary/BTBD3_1.svg) **Rating** ★ ★ ☆ ☆ ☆ ## All Mutations [Reddy_2193T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2193T.html) [Reddy_2219T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2219T.html) [Reddy_2240T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2240T.html) [Reddy_2475T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2475T.html) [Reddy_2603T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2603T.html) [Reddy_2698T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2698T.html) [Reddy_2838T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2838T.html) [Reddy_2950T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_2950T.html) [Reddy_3387T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3387T.html) [Reddy_3479T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3479T.html) [Reddy_3548T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3548T.html) [Reddy_3566T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3566T.html) [Reddy_3594T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3594T.html) [Reddy_3706T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3706T.html) [Reddy_3708T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3708T.html) [Reddy_3759T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3759T.html) [Reddy_3916T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3916T.html) [Reddy_3918T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_3918T.html) [Reddy_759T](https://www.bcgsc.ca/downloads/morinlab/GAMBL/Reddy/igv_reports/Reddy_759T.html) [[include:mermaid_BTBD3.md]] ## References