Hs02729909_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140801945 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	748	NP_061729.1
	NM_031497.1	1	748	NP_113685.1
	AF152311.1	1	748	AAD43705.1
	AF152481.1	1	748	AAD43742.1
	BC069064.1	1	748	AAH69064.1
	BC129807.1	1	748

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	PCDHA8 PCDHB16 PCDHB1 PCDHA10 PCDHB13 PCDHB12 PCDHAC2 PCDHA7 PCDHGA4 LOC101926905 PCDHGB8P PCDHGA9 PCDHGA8 PCDHGB7 PCDHB9 PCDHGB1 PCDHB11 PCDHB3 PCDHA12 PCDHGA12 PCDHB8 PCDHA5 PCDHB18P PCDHGA1 PCDHB4 PCDHAC1 PCDHGA10 PCDHA11 PCDHGA6 SLC25A2 PCDHA4 PCDHA9 PCDHGB4 PCDHB10 PCDHA3 PCDHA13 PCDHA6 TAF7 PCDHB17P PCDHB7 PCDHGA2 PCDHGA5 PCDHGA3 PCDHB5 PCDHB6 PCDHGA11 PCDHB2 PCDHA1 PCDHGB5 PCDHGB6 PCDHB15 PCDHB14 PCDHGB2 PCDHB19P PCDHGB3 PCDHA2 PCDHGA7
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA11 VTRNA1-2 PCDHA8 PCDHA4 PCDHA9 PCDHA10 PCDHA1 HARS2 PCDHA3 PCDHA7 PCDHA5 PCDHA6 VTRNA1-1 ZMAT2 PCDHA2 HARS VTRNA1-3
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA7 PCDHA5 PCDHA8 PCDHA6 PCDHA4 PCDHA1 PCDHA2 PCDHA3
nsv330045	Chr.5:140801416 - 140807405 on Build GRCh38	Deletion	PCDHA4 PCDHA1 PCDHA2 PCDHA3
nsv964948	Chr.5:140801428 - 140803108 on Build GRCh38	Duplication	PCDHA1 PCDHA2 PCDHA3

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