IKZF3

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

[[TOC]]

Overview

IKZF3 (IKAROS family zinc finger 3, also known as AIOLOS) is a transcription factor involved in regulating B-cell development and function. Mutations in IKZF3 can lead to transcriptional dysregulation and contribute to the pathogenesis of B-cell neoplasms. IKZF3 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. IKZF3 has multiple hot spot mutations in DLBCL. The most common, L162R, has been identified as a driver in CLL. In that context, it alters DNA binding specificity and causes hyperactivation of B-cell receptor (BCR) signaling and overexpression of NF-κB target genes.[@lazarianHotspotMutationTranscription2021] While primarily studied in CLL, the functional effects of IKZF3 mutations could have implications for other B-cell malignancies, including DLBCL

Relevance tier by entity

Entity	Tier	Description
	2	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019]
	1	aSHM target and high-confidence DLBCL gene [@morinMutationalStructuralAnalysis2013]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_IKZF3.md include:BL_IKZF3.md

Mutation pattern and selective pressure estimates

include:dnds_IKZF3.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr17	37928959	37940119	TSS-1	NA
chr17	38015776	38024832	TSS-2	NA

IKZF3 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr17	37948968	T>C	I128V
chr17	37948958	T>C	N131S
chr17	37948950	T>C	M134V
chr17	37948949	A>T	M134K
chr17	37947783	T>G	N160H
chr17	37947782	T>C	N160S
chr17	37947776	A>C	L162R
chr17	37944583	G>T	Q213K
chr17	37944582	T>C	Q213R
chr17	37944577	T>G	S215R
chr17	37944575	A>T	S215R
chr17	37944575	A>C	S215R
chr17	37944568	C>T	E218K
chr17	37944565	C>T	E219K
chr17	37944564	T>A	E219V
chr17	37944556	C>T	E222K

include:browser_IKZF3.md

Expression

include:mermaid_IKZF3.md

References