S1PR2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @muppidiLossSignalingGa132014, @morinMutationalStructuralAnalysis2013, @morinFrequentMutationHistonemodifying2011, @lohrDiscoveryPrioritizationSomatic2012,
Overview
S1PR2 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@muppidiLossSignalingGa132014]
Relevance tier by entity
include:tables/table1_S1PR2.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
BL
Mutation pattern and selective pressure estimates
aSHM regions
chr_name | hg19_start | hg19_end | region | regulatory_comment |
---|---|---|---|---|
chr19 | 10340142 | 10341764 | TSS | active_promoter |
include:tables/browser_S1PR2.md
Expression
include:tables/mermaid_S1PR2.md