Hs01544653_cn

• Gene Symbol: PCDH1
• Assay Reference Genome Location: Chr.5:141863909 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 5097
• Gene Name: protocadherin 1
• Gene Aliases: PC42, PCDH42
• Location: Chr.5:141852319-141878410 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDH1	NM_001278613.1	3	2493	NP_001265542.1
	NM_001278615.1	2	1650	NP_001265544.1
	NM_002587.4	3	2570	NP_002578.2
	NM_032420.3	3	2570	NP_115796.2
	XM_005268452.2	3	4900	XP_005268509.1
	XM_005268454.4	3	4900	XP_005268511.1
	XM_005268455.2	2	1593	XP_005268512.1
	XM_017009517.1	2	2527	XP_016865006.1
	XM_017009518.1	2	1593	XP_016865007.1
	AK075233.1	2	1939
	AK289512.1	3	2570
	AK300564.1	2	1593
	AK304231.1	3	2455
	AK308338.1	2	1650
	BC035812.1	3	2539	AAH35812.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1154058	Chr.5:141632251 - 142199943 on Build GRCh38	Deletion	NDFIP1 KIAA0141 PCDH12 ARAP3 HDAC3 FCHSD1 RELL2 GNPDA1 RNF14 LOC729080 PCDH1
nsv509093	Chr.5:141806786 - 141884647 on Build GRCh38	Insertion	PCDH1
esv3369680	Chr.5:141863903 - 141865401 on Build GRCh38	Duplication	PCDH1
dgv1654e212	Chr.5:141854041 - 141866770 on Build GRCh38	Loss	PCDH1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

homophilic cell adhesion via plasma membrane adhesion molecules
cell-cell signaling
nervous system development

Function(s)

calcium ion binding