Hs03048539_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140801812 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	615	NP_061729.1
	NM_031497.1	1	615	NP_113685.1
	AF152311.1	1	615	AAD43705.1
	AF152481.1	1	615	AAD43742.1
	BC069064.1	1	615	AAH69064.1
	BC129807.1	1	615

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

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