Hs00390293_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140795685 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	827	NP_061728.1
	NM_031495.1	1	827	NP_113683.1
	NM_031496.1	1	827	NP_113684.1
	AF152310.1	1	721	AAD43704.1
	AF152480.1	1	721	AAD43741.1
	BC003126.1	1	827	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	PCDHGA12 PCDHA1 PCDHB2 PCDHB4 PCDHGA8 PCDHA3 PCDHGA1 PCDHGA7 PCDHB12 PCDHA13 PCDHB17P PCDHB13 PCDHGA4 PCDHB8 PCDHGB1 SLC25A2 PCDHB10 PCDHB11 PCDHA11 PCDHGA9 PCDHB1 PCDHGA2 PCDHA4 PCDHB15 PCDHAC2 PCDHGB8P PCDHGA6 PCDHB7 PCDHB14 PCDHGA5 PCDHGA10 PCDHGB6 PCDHGB2 PCDHGA3 PCDHAC1 PCDHGB5 PCDHB18P PCDHB6 PCDHB16 PCDHA8 PCDHA2 PCDHA7 TAF7 PCDHB19P PCDHGB3 PCDHGB4 PCDHA9 PCDHGB7 PCDHGA11 PCDHA5 PCDHB3 PCDHA6 PCDHA10 LOC101926905 PCDHB9 PCDHA12 PCDHB5
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA9 PCDHA11 PCDHA1 HARS PCDHA4 VTRNA1-3 PCDHA5 PCDHA3 PCDHA6 PCDHA8 VTRNA1-2 PCDHA10 VTRNA1-1 PCDHA2 PCDHA7 ZMAT2 HARS2
nsv964947	Chr.5:140792809 - 140796823 on Build GRCh38	Duplication	PCDHA1 PCDHA2
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA8 PCDHA1 PCDHA2 PCDHA7 PCDHA4 PCDHA5 PCDHA3 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