CD83

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @morinMutationalStructuralAnalysis2013, @schmitzGeneticsPathogenesisDiffuse2018, @russler-germainMutationsAssociatedProgression2023, @reddyGeneticFunctionalDrivers2017, @dunsCharacterizationDLBCLPMBL2021, @paneaWholeGenomeLandscape2019,

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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

include:tables/table1_CD83.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_CD83.md

FL

include:tables/FL_CD83.md

Mutation pattern and selective pressure estimates

include:tables/dnds_CD83.md

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 ★ ☆ ☆ ☆ ☆

Rating ★ ★ ★ ★ ☆

include:tables/mermaid_CD83.md

References