Hs00788083_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140805399 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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	NM_031496.1	2	2834	NP_113684.1
	AF152310.1			AAD43704.1
	BC003126.1	2	2834	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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2			NP_061729.1
	AF152311.1			AAD43705.1

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

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