Hs02729909_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140801945 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	748	NP_061729.1
	NM_031497.1	1	748	NP_113685.1
	AF152311.1	1	748	AAD43705.1
	AF152481.1	1	748	AAD43742.1
	BC069064.1	1	748	AAH69064.1
	BC129807.1	1	748

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