Hs02350377_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140788649 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA1	NM_018900.3			NP_061723.1
	NM_031410.2	1	2514	NP_113598.1
	NM_031411.2			NP_113599.1
	AF152305.1			AAD43699.1
	AF152479.1	1	2359	AAD43740.1
	AF169695.1			AAF89692.1
	BF089693.1	1	190

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3606955	Chr.5:140788143 - 140795935 on Build GRCh38	Loss	PCDHA2 PCDHA1
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGB8P PCDHA1 PCDHB13 PCDHGB1 PCDHGB7 PCDHA5 PCDHA6 PCDHB6 PCDHGA3 PCDHGB2 PCDHB19P PCDHGA4 PCDHB7 PCDHB14 PCDHA13 PCDHA9 PCDHB8 PCDHB11 PCDHA7 PCDHB15 PCDHA8 PCDHA10 PCDHGA12 PCDHGA7 PCDHGB3 PCDHB1 PCDHGA1 PCDHGB6 PCDHB2 PCDHB17P PCDHA2 PCDHB4 PCDHA11 PCDHGA9 PCDHGB5 PCDHB18P PCDHGA8 PCDHB9 PCDHAC1 PCDHB3 PCDHB10 PCDHAC2 PCDHA4 LOC101926905 PCDHGA11 PCDHGA10 PCDHB12 PCDHA12 PCDHGA6 PCDHGA2 PCDHA3 PCDHGB4 SLC25A2 PCDHGA5 PCDHB5 PCDHB16 TAF7
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA4 PCDHA2 VTRNA1-2 PCDHA1 PCDHA9 PCDHA7 HARS2 PCDHA8 PCDHA11 HARS PCDHA5 PCDHA6 PCDHA10 PCDHA3 VTRNA1-3 ZMAT2 VTRNA1-1
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA4 PCDHA2 PCDHA1 PCDHA3 PCDHA7 PCDHA8 PCDHA5 PCDHA6

More Information

• Set Membership: Intragenic, 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