Gene Report

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Basic Info

Approved Symbol	CNTN4
Symbol Alias	BIG-2
Approved Name	contactin 4
Location	3p26.3
Position	chr3:2098813-3057956, 1
External Links	HGNC: 2174 Entrez Gene: 152330 Ensembl: ENSG00000144619 UCSC: uc003bpc.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
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	IMP[15106122]	40
GO:0007411	axon guidance	biological process	TAS[15106122]	60
GO:0031175	neuron projection development	biological process	ISS	10
GO:0007420	brain development	biological process	ISS	25
GO:0005886	plasma membrane	cellular component	NAS[15106122]	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007413	axonal fasciculation	biological process	TAS[15106122]	4
GO:0007158	neuron cell-cell adhesion	biological process	TAS[14571131]	6
GO:0007409	axonogenesis	biological process	TAS[14571131]	11
GO:0045665	negative regulation of neuron differentiation	biological process	IMP[14571131]	8
GO:0048167	regulation of synaptic plasticity	biological process	TAS[15106122]	9
GO:0030424	axon	cellular component	NAS[14571131]	39
GO:0031225	anchored component of membrane	cellular component	IEA	11
GO:0005576	extracellular region	cellular component	IEA	97

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_57	chr3:2650155-3025952 (Affymetrix SNP 6.0 array reference genome)	375797		Singleton deletions
CNV_Abdul Noor[2014]_25	chr3:38411-3305438 (NCBI Build 36/hg18)	3	3p26.3	deletion

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p24-p26	chr3:0-30800000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:2098813..3057956 View in gBrowse