CD83 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @morinMutationalStructuralAnalysis2013, @schmitzGeneticsPathogenesisDiffuse2018, @russler-germainMutationsAssociatedProgression2023, @reddyGeneticFunctionalDrivers2017, @dunsCharacterizationDLBCLPMBL2021, @paneaWholeGenomeLandscape2019,
Overview
CD83 is a transmembrane protein that plays a role in the immune system, particularly in the maturation and function of dendritic cells, T cells, and B cells with a role in regulating immune responses and maintaining immune tolerance. CD83 mutations in B-cell lymphomas have not been as extensively studied as mutations in some other genes. CD83 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. No notable hot spots have been described in this gene in the context of the cancers listed below.
Mutations in this gene were first described in DLBCL in 2013 by Morin et al[@morinMutationalStructuralAnalysis2013], in BL in 2019 by Panea et al[@paneaWholeGenomeLandscape2019] and in FL in 2023 by Russler-Germain et al.[@russler-germainMutationsAssociatedProgression2023]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
aSHM regions
chr_name | hg19_start | hg19_end | region | regulatory_comment |
---|---|---|---|---|
chr6 | 14118026 | 14120025 | TSS | active_promoter-strong_enhancer |
include:tables/browser_CD83.md
Expression
Representative Mutations
BL
Rating
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Rating
★ ★ ★ ★ ☆
include:tables/mermaid_CD83.md