Hs02148527_cn

• Gene Symbol: PCDH1
• Assay Reference Genome Location: Chr.5:141854425 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: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDH1	NM_032420.3			NP_115796.2
	XM_005268452.2			XP_005268509.1
	XM_005268454.4			XP_005268511.1
	XM_005268455.2			XP_005268512.1
	XM_017009517.1			XP_016865006.1
	AK075233.1
	L11369.1			AAA36418.1

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	ARAP3 FCHSD1 GNPDA1 KIAA0141 PCDH1 LOC729080 NDFIP1 RELL2 HDAC3 RNF14 PCDH12
nsv509093	Chr.5:141806786 - 141884647 on Build GRCh38	Insertion	PCDH1
dgv1654e212	Chr.5:141854041 - 141866770 on Build GRCh38	Loss	PCDH1

More Information

• Set Membership: Intragenic, Non-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