Hs03080138_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140802186 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	989	NP_061729.1
	NM_031497.1	1	989	NP_113685.1
	AF152311.1	1	989	AAD43705.1
	AF152481.1	1	989	AAD43742.1
	BC069064.1	1	989	AAH69064.1
	BC129807.1	1	989

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