Hs02819440_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140803356 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: Within Intron 1

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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2	1	2159	NP_061729.1
	NM_031497.1	1	2159	NP_113685.1
	AF152311.1	1	2159	AAD43705.1
	AF152481.1	1	2159	AAD43742.1
	BC069064.1	1	2159	AAH69064.1
	BC129807.1	1	2159

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

More Information

• Set Membership: Intragenic, Exonic, 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