Hs01046568_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140795006 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2	1	148	NP_061728.1
	NM_031495.1	1	148	NP_113683.1
	NM_031496.1	1	148	NP_113684.1
	AF152310.1			AAD43704.1
	AF152480.1			AAD43741.1
	BC003126.1	1	148	AAH03126.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3606955	Chr.5:140788143 - 140795935 on Build GRCh38	Loss	PCDHA1 PCDHA2
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA11 PCDHA9 PCDHGB5 PCDHB3 PCDHB2 PCDHGA9 SLC25A2 PCDHB6 TAF7 PCDHAC1 PCDHGB8P PCDHGB1 PCDHB10 PCDHB4 PCDHGB6 PCDHGA12 PCDHGA7 PCDHGB3 PCDHA3 PCDHAC2 PCDHGA1 PCDHGA10 PCDHB15 PCDHGB2 PCDHB7 PCDHB19P PCDHA2 PCDHGB7 PCDHA7 PCDHB11 PCDHA4 PCDHA5 PCDHGA5 PCDHA13 LOC101926905 PCDHA10 PCDHB18P PCDHB1 PCDHA1 PCDHGA6 PCDHB17P PCDHB9 PCDHGA4 PCDHGA3 PCDHB12 PCDHGB4 PCDHA11 PCDHGA8 PCDHB16 PCDHB8 PCDHB13 PCDHB5 PCDHGA2 PCDHB14 PCDHA6 PCDHA8 PCDHA12
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA7 VTRNA1-1 PCDHA11 PCDHA9 ZMAT2 PCDHA3 VTRNA1-3 PCDHA4 PCDHA5 HARS2 HARS PCDHA10 PCDHA1 VTRNA1-2 PCDHA6 PCDHA8 PCDHA2
nsv964947	Chr.5:140792809 - 140796823 on Build GRCh38	Duplication	PCDHA1 PCDHA2
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA7 PCDHA1 PCDHA3 PCDHA6 PCDHA4 PCDHA5 PCDHA8 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