IRF4

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @mottokIntegrativeGenomicAnalysis2019, @morinFrequentMutationHistonemodifying2011,

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Overview

IRF4 (Interferon Regulatory Factor 4) encodes a transcription factor that plays a critical role in the regulation of immune response genes and B-cell development. Mutations and rearrangements in the IRF4 gene have been implicated in various B-cell lymphomas, including DLBCL. IRF4-rearranged large B-cell lymphomas (LBCL-IRF4) show a unique molecular profile with strong expression of IRF4/MUM1 and are associated with favorable outcomes. MUM1 staining is also commonly used to assign DLBCLs to one of the two cell-of-origin (COO) subgroups by immunohistochemistry. IRF4 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. Although IRF4 is significantly mutated in DLBCL, Selective pressure analysis implies the gene is largely under negative selective pressure. There are a few mutation hotspots in IRF4. It remains unclear whether any of the mutations in IRF4 are relevant to lymphomagenesis.

Relevance tier by entity

include:tables/table1_IRF4.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_IRF4.md

FL

include:tables/FL_IRF4.md

Mutation pattern and selective pressure estimates

include:tables/dnds_IRF4.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr6	390572	394093	TSS	active_promoter

IRF4 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr6	393328	A>G	K59R
chr6	393340	A>G	N63S
chr6	393360	C>G	L70V
chr6	393360	C>T	L70F

include:tables/browser_IRF4.md

Expression

include:tables/mermaid_IRF4.md

References