Hs00226726_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140795564 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	706	NP_061728.1
	NM_031495.1	1	706	NP_113683.1
	NM_031496.1	1	706	NP_113684.1
	AF152310.1	1	600	AAD43704.1
	AF152480.1	1	600	AAD43741.1
	BC003126.1	1	706	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	PCDHA2 PCDHA1
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA9 PCDHB15 PCDHB17P PCDHB18P SLC25A2 PCDHGA6 PCDHAC1 PCDHGA1 PCDHGB4 PCDHB10 PCDHB6 PCDHB7 PCDHGA7 PCDHA5 PCDHB19P PCDHGB5 PCDHGB6 PCDHGA5 PCDHGA11 PCDHA6 PCDHA1 PCDHGA8 PCDHB3 PCDHGA3 PCDHGA12 PCDHB11 PCDHA4 PCDHA2 PCDHB8 PCDHGB3 PCDHGA4 PCDHB2 LOC101926905 PCDHGB8P PCDHB4 PCDHA10 PCDHA7 PCDHB1 TAF7 PCDHB16 PCDHA12 PCDHGB7 PCDHB12 PCDHGB2 PCDHGA10 PCDHB13 PCDHGB1 PCDHA9 PCDHA8 PCDHAC2 PCDHA11 PCDHA3 PCDHB9 PCDHA13 PCDHGA2 PCDHB14 PCDHB5
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA4 PCDHA2 HARS2 PCDHA9 PCDHA6 PCDHA8 PCDHA11 PCDHA10 HARS PCDHA3 ZMAT2 VTRNA1-3 PCDHA7 PCDHA1 VTRNA1-1 VTRNA1-2 PCDHA5
nsv964947	Chr.5:140792809 - 140796823 on Build GRCh38	Duplication	PCDHA2 PCDHA1
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA8 PCDHA4 PCDHA2 PCDHA3 PCDHA7 PCDHA1 PCDHA5 PCDHA6

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