Hs02834588_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140795813 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	955	NP_061728.1
	NM_031495.1	1	955	NP_113683.1
	NM_031496.1	1	955	NP_113684.1
	AF152310.1	1	849	AAD43704.1
	AF152480.1	1	849	AAD43741.1
	BC003126.1	1	955	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	PCDHGA5 PCDHGB8P PCDHGB6 PCDHA3 PCDHA10 PCDHGA6 PCDHB18P PCDHB11 PCDHGA10 PCDHGA1 TAF7 PCDHA8 PCDHGB2 PCDHB10 PCDHAC2 PCDHGA12 PCDHGA8 PCDHGA7 SLC25A2 PCDHGA9 PCDHB2 PCDHB4 PCDHA12 PCDHB13 PCDHB9 PCDHA4 PCDHB5 PCDHA11 PCDHB8 PCDHB14 PCDHAC1 PCDHB6 PCDHB19P PCDHGA3 PCDHGA4 PCDHB16 PCDHA13 PCDHGB1 PCDHA9 PCDHA6 PCDHB3 PCDHGA11 PCDHA2 PCDHGB5 PCDHB7 LOC101926905 PCDHGA2 PCDHB17P PCDHA7 PCDHGB4 PCDHGB7 PCDHB12 PCDHB15 PCDHA1 PCDHA5 PCDHGB3 PCDHB1
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA6 PCDHA2 PCDHA11 PCDHA7 HARS PCDHA3 PCDHA10 VTRNA1-1 VTRNA1-3 PCDHA8 VTRNA1-2 PCDHA1 PCDHA4 PCDHA5 PCDHA9 ZMAT2 HARS2
nsv964947	Chr.5:140792809 - 140796823 on Build GRCh38	Duplication	PCDHA2 PCDHA1
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA6 PCDHA2 PCDHA8 PCDHA1 PCDHA4 PCDHA5 PCDHA7 PCDHA3

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