--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview S1PR2 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|--------------------------------------| |![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene| |![BL](images/icons/BL_tier2.png) |2 | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@muppidiLossSignalingGa132014]| |![DLBCL](images/icons/DLBCL_tier1.png) |1 | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011; @lohrDiscoveryPrioritizationSomatic2012; @morinMutationalStructuralAnalysis2013]| |![FL](images/icons/FL_tier1.png) |1 | aSHM target and high-confidence FL gene | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) [[include:DLBCL_S1PR2.md]] [[include:FL_S1PR2.md]] [[include:BL_S1PR2.md]] ## Mutation pattern and selective pressure estimates [[include:dnds_S1PR2.md]] ## aSHM regions |chr_name|hg19_start|hg19_end|region |regulatory_comment| |:--------:|:----------:|:--------:|:------------------------------------------------------------------------------------------:|:------------------:| |chr19 |10340142 |10341764|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr19%3A10340142%2D10341764)|active_promoter | [[include:browser_S1PR2.md]] ## Expression ![](images/gene_expression/S1PR2_by_pathology.svg) [[include:mermaid_S1PR2.md]] ## References