EBF1

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

[[TOC]]

Overview

EBF1 is a critical transcription factor in early B-cell development, regulating the expression of key genes involved in B-cell differentiation, survival, and function. EBF1 is essential for proper B-cell receptor (BCR) signaling.[@gyoryTranscriptionFactorEbf12012] Mutations in EBF1 can impair BCR signaling pathways, affecting B-cell survival and proliferation.[@gyoryTranscriptionFactorEbf12012] EBF1 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. This gene has some recurrent sites of mutations (hot spots) but the mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations.

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]
	1	aSHM target and high-confidence DLBCL gene [@bohleRoleEarlyBcell2013; @albuquerqueEnhancingKnowledgeDiscovery2017; @morinMutationalStructuralAnalysis2013]
	1	aSHM target and high-confidence FL gene
	2	aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@thomasGeneticSubgroupsInform2023]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_EBF1.md include:FL_EBF1.md

Mutation pattern and selective pressure estimates

include:dnds_EBF1.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr5	158500476	158532769	TSS	active_promoter

EBF1 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr5	158526467	C>T	S7N
chr5	158526456	T>C	S11G
chr5	158526413	T>C	N25S
chr5	158511720	T>C	N147D
chr5	158511714	C>T	E149K
chr5	158511705	G>C	R152G
chr5	158511698	A>C	L154W
chr5	158511677	C>A	C161F
chr5	158500470	C>T	R163H
chr5	158500468	A>G	C164R
chr5	158500467	C>G	C164S

include:browser_EBF1.md

Expression

include:mermaid_EBF1.md

References