Hs01121560_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140801630 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	NM_031496.1			NP_113684.1
	AF152310.1			AAD43704.1
	BC003126.1			AAH03126.1

Target Gene Details

• Entrez Gene ID: 56145
• Gene Name: protocadherin alpha 3
• Gene Aliases: PCDH-ALPHA3
• Location: Chr.5:140801198-141012344 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2	1	433	NP_061729.1
	NM_031497.1	1	433	NP_113685.1
	AF152311.1	1	433	AAD43705.1
	AF152481.1	1	433	AAD43742.1
	BC069064.1	1	433	AAH69064.1
	BC129807.1	1	433

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	PCDHA5 PCDHB7 PCDHGA9 PCDHB3 PCDHB2 PCDHGB2 PCDHB18P PCDHGB8P LOC101926905 SLC25A2 PCDHA13 PCDHGB4 PCDHGA1 PCDHGB1 PCDHA6 PCDHGA10 PCDHA2 PCDHGB5 PCDHA9 PCDHGA2 TAF7 PCDHB4 PCDHB17P PCDHB5 PCDHB6 PCDHA12 PCDHGB3 PCDHGA5 PCDHB12 PCDHGA11 PCDHA11 PCDHGA12 PCDHB10 PCDHB19P PCDHB8 PCDHGB7 PCDHB11 PCDHGA6 PCDHB1 PCDHA4 PCDHA1 PCDHB16 PCDHB9 PCDHB13 PCDHGA7 PCDHA10 PCDHAC2 PCDHGB6 PCDHGA8 PCDHB14 PCDHA8 PCDHGA3 PCDHA3 PCDHB15 PCDHGA4 PCDHAC1 PCDHA7
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	VTRNA1-1 PCDHA5 ZMAT2 PCDHA9 PCDHA10 PCDHA8 PCDHA3 HARS VTRNA1-2 PCDHA4 PCDHA1 PCDHA6 VTRNA1-3 PCDHA2 PCDHA7 PCDHA11 HARS2
nsv330045	Chr.5:140801416 - 140807405 on Build GRCh38	Deletion	PCDHA3 PCDHA4 PCDHA1 PCDHA2
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA5 PCDHA3 PCDHA4 PCDHA1 PCDHA6 PCDHA8 PCDHA2 PCDHA7
nsv964948	Chr.5:140801428 - 140803108 on Build GRCh38	Duplication	PCDHA3 PCDHA1 PCDHA2

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