Hs03048539_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140801812 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	615	NP_061729.1
	NM_031497.1	1	615	NP_113685.1
	AF152311.1	1	615	AAD43705.1
	AF152481.1	1	615	AAD43742.1
	BC069064.1	1	615	AAH69064.1
	BC129807.1	1	615

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