Gene Report

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Basic Info

Approved Symbol	EBF1
Previous Symbol	EBF
Symbol Alias	OLF1
Approved Name	early B-cell factor 1
Previous Name	early B-cell factor
Location	5q34
Position	chr5:158695916-159099761, -1
External Links	HGNC: 3126 Entrez Gene: 1879 Ensembl: ENSG00000164330 UCSC: uc010jip.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kerner, B.,2009	SNP: rs6874808	Only a small number of families had been informative for those SNPs in the individual data sets, therefore the analysis of all families combined increased the evidence for those loci.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003700	sequence-specific DNA binding transcription factor activity	molecular function	IEA	66
GO:0005634	nucleus	cellular component	IEA	283
GO:0007275	multicellular organismal development	biological process	IEA	24
GO:0003677	DNA binding	molecular function	IEA	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046983	protein dimerization activity	molecular function	IEA	19
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IEA	58
GO:0070742	C2H2 zinc finger domain binding	molecular function	IEA	2
GO:0046872	metal ion binding	molecular function	IEA	115

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
EBF1	PAX5	NO	in vitro	14594818
EBF1	ZNF521	NO	in vitro	14630787
EBF1	ZNF423	NO	in vitro;in vivo	9151733

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6874808	chr5:158788612 - 158788612(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q31-q33	chr5:131200000-160500000	1 (1/0/0)
5q32-5q33.3	chr5:145100000-160500000	1 (0/1/0)
5q33	chr5:150400000-160500000	2 (0/1/1)
5q33-34	chr5:150400000-169000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr5:158695916..159099761 View in gBrowse