Hs02778688_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140805088 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 56147
• Gene Name: protocadherin alpha 1
• Gene Aliases: PCDH-ALPHA1
• Location: Chr.5:140786136-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA1	NM_018900.3			NP_061723.1
	NM_031411.2			NP_113599.1
	AF152305.1			AAD43699.1
	AF169695.1			AAF89692.1

Target Gene Details

• Entrez Gene ID: 56146
• Gene Name: protocadherin alpha 2
• Gene Aliases: PCDH-ALPHA2
• Location: Chr.5:140794859-141012344 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	NM_031496.1			NP_113684.1
	AF152310.1			AAD43704.1
	BC003126.1			AAH03126.1

Target Gene Details

• Entrez Gene ID: 56145
• Gene Name: protocadherin alpha 3
• Gene Aliases: PCDH-ALPHA3
• Location: Chr.5:140801198-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2			NP_061729.1
	AF152311.1			AAD43705.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA2 PCDHA11 PCDHB9 PCDHGB7 PCDHB15 PCDHGA4 PCDHGA10 TAF7 PCDHGB3 PCDHB10 PCDHGA12 PCDHB3 PCDHB4 PCDHB16 PCDHB1 PCDHA10 PCDHB8 PCDHB13 PCDHB2 PCDHGB4 PCDHB14 PCDHB11 PCDHA2 PCDHB7 PCDHGB2 PCDHA8 PCDHGA11 PCDHB19P PCDHGA1 PCDHB17P PCDHGA6 PCDHB6 PCDHA5 LOC101926905 PCDHGB8P PCDHGA3 PCDHGA5 PCDHA4 PCDHA9 PCDHGA7 PCDHGA9 PCDHA3 PCDHA1 PCDHGA8 PCDHA6 PCDHGB5 PCDHAC2 PCDHGB1 PCDHA12 PCDHA7 PCDHB5 PCDHGB6 SLC25A2 PCDHB18P PCDHAC1 PCDHB12 PCDHA13
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA6 PCDHA11 VTRNA1-2 PCDHA5 VTRNA1-1 PCDHA2 PCDHA7 PCDHA4 HARS ZMAT2 PCDHA8 PCDHA9 HARS2 PCDHA3 VTRNA1-3 PCDHA10 PCDHA1
nsv330045	Chr.5:140801416 - 140807405 on Build GRCh38	Deletion	PCDHA2 PCDHA3 PCDHA4 PCDHA1
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA6 PCDHA8 PCDHA5 PCDHA2 PCDHA3 PCDHA7 PCDHA4 PCDHA1

More Information

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

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

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

Function(s)

calcium ion binding