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

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