Hs04414979_cn

• Gene Symbol: CNTN1
• Assay Reference Genome Location: Chr.12:40699487 on build GRCh38
• Cytoband: 12q12

Target Gene Details

• Entrez Gene ID: 1272
• Gene Name: contactin 1
• Gene Aliases: F3, GP135, MYPCN
• Location: Chr.12:40692439-41072412 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CNTN1	NM_001256063.1			NP_001242992.1
	NM_001843.3			NP_001834.2
	XM_017018821.1			XP_016874310.1
	AK289698.1
	Z21488.1			CAA79696.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv832379	Chr.12:40660638 - 40838947 on Build GRCh38	Gain	CNTN1
nsv1048258	Chr.12:39970608 - 41209299 on Build GRCh38	Gain	SLC2A13 LOC101930164 PDZRN4 LRRK2 CNTN1 MUC19
nsv832378	Chr.12:40549309 - 40738503 on Build GRCh38	Gain	CNTN1 MUC19
esv2751098	Chr.12:40688597 - 40786433 on Build GRCh38	Gain	CNTN1
nsv558696	Chr.12:40698864 - 40778208 on Build GRCh38	Gain	CNTN1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell adhesion
Notch signaling pathway
positive regulation of gene expression
positive regulation of sodium ion transport
positive regulation of neuron projection development
cerebellum development
neuron projection development
positive regulation of peptidyl-tyrosine phosphorylation

Function(s)

glycoprotein binding
carbohydrate binding