Hs02702680_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140796925 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	2067	NP_061728.1
	NM_031495.1	1	2067	NP_113683.1
	NM_031496.1	1	2067	NP_113684.1
	AF152310.1	1	1961	AAD43704.1
	AF152480.1	1	1961	AAD43741.1
	BC003126.1	1	2067	AAH03126.1

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