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