--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|-----------------------------------------| |![MZL](images/icons/MZL_tier2.png)|2|relevance in MZL not firmly established[@jalladesExomeSequencingIdentifies2017]| |![BL](images/icons/BL_tier1.png) |1 |high-confidence BL gene [@thomasGeneticSubgroupsInform2023]| |![DLBCL](images/icons/DLBCL_tier2.png) |2 |relevance in DLBCL not firmly established[@hubschmannMutationalMechanismsShaping2021]| ## Mutation incidence in large patient cohorts (GAMBL reanalysis) [[include:DLBCL_WNK1.md]] [[include:BL_WNK1.md]] ## Mutation pattern and selective pressure estimates [[include:dnds_WNK1.md]] ## WNK1 Hotspots | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | | :---:| :---: | :--: | :---: | | chr12 | 968467 | G>A | R486Q | [[include:browser_WNK1.md]] ## Expression ![](images/gene_expression/WNK1_by_pathology.svg) ## All Mutations ### DLBCL[@hubschmannMutationalMechanismsShaping2021] [SP192988](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP192988.html) [SP193025](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193025.html) [SP193684](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP193684.html) [SP194228](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP194228.html) [SP59344](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP59344.html) [SP59452](https://www.bcgsc.ca/downloads/morinlab/GAMBL/MALY/SP59452.html) [[include:mermaid_WNK1.md]] ## References