Hs00947497_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140787305 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	1	1170	NP_061723.1
	NM_031410.2	1	1170	NP_113598.1
	NM_031411.2	1	1170	NP_113599.1
	AF152305.1	1	1015	AAD43699.1
	AF152479.1	1	1015	AAD43740.1
	AF169695.1	1	1015	AAF89692.1

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

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