Hs00307414_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140796002 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	1144	NP_061728.1
	NM_031495.1	1	1144	NP_113683.1
	NM_031496.1	1	1144	NP_113684.1
	AF152310.1	1	1038	AAD43704.1
	AF152480.1	1	1038	AAD43741.1
	BC003126.1	1	1144	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	PCDHGB4 PCDHB8 PCDHGB5 PCDHB10 PCDHB6 PCDHGB2 PCDHB9 PCDHB2 PCDHB13 PCDHGA5 PCDHA13 PCDHGB1 PCDHB11 PCDHA12 PCDHAC2 PCDHB15 PCDHGA8 PCDHGA2 PCDHB1 PCDHA4 PCDHA2 PCDHB16 PCDHGA11 PCDHB14 PCDHA7 PCDHB5 PCDHA8 PCDHA6 PCDHGA10 PCDHGB6 PCDHGA7 PCDHGA6 PCDHB3 PCDHB19P PCDHA9 PCDHGA4 PCDHGB7 PCDHA11 PCDHB4 PCDHA10 PCDHA3 PCDHA5 PCDHGB3 PCDHB18P PCDHGA1 PCDHB7 PCDHGA3 PCDHB17P PCDHA1 SLC25A2 PCDHGB8P LOC101926905 PCDHB12 PCDHGA12 TAF7 PCDHAC1 PCDHGA9
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA2 PCDHA11 VTRNA1-3 PCDHA10 VTRNA1-1 PCDHA3 PCDHA5 ZMAT2 PCDHA7 HARS2 VTRNA1-2 PCDHA8 PCDHA6 PCDHA1 HARS PCDHA9 PCDHA4
nsv964947	Chr.5:140792809 - 140796823 on Build GRCh38	Duplication	PCDHA2 PCDHA1
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA2 PCDHA6 PCDHA1 PCDHA3 PCDHA5 PCDHA7 PCDHA4 PCDHA8

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