Hs00687305_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140787147 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	1012	NP_061723.1
	NM_031410.2	1	1012	NP_113598.1
	NM_031411.2	1	1012	NP_113599.1
	AF152305.1	1	857	AAD43699.1
	AF152479.1	1	857	AAD43740.1
	AF169695.1	1	857	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	PCDHGB8P PCDHB5 PCDHB16 PCDHB13 PCDHGB7 PCDHAC1 PCDHAC2 PCDHGA5 PCDHGA9 PCDHA8 PCDHB11 SLC25A2 PCDHA11 PCDHB9 PCDHGB6 PCDHA7 PCDHB12 PCDHB15 PCDHGA4 PCDHGA8 PCDHB7 PCDHGA7 PCDHA9 PCDHGA10 PCDHB10 PCDHB8 PCDHGB2 PCDHA10 PCDHGA11 PCDHB3 PCDHGA2 PCDHGA3 PCDHA3 PCDHGB4 PCDHB14 TAF7 PCDHB2 PCDHB18P PCDHGA12 PCDHB6 PCDHA2 PCDHGA6 PCDHA6 PCDHGA1 PCDHB1 PCDHB19P PCDHA1 PCDHGB3 PCDHA5 PCDHA4 PCDHA12 PCDHGB1 PCDHB4 PCDHA13 PCDHB17P LOC101926905 PCDHGB5
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA8 PCDHA3 PCDHA11 PCDHA7 VTRNA1-2 PCDHA1 HARS2 PCDHA5 PCDHA4 HARS PCDHA9 PCDHA2 VTRNA1-3 PCDHA6 VTRNA1-1 ZMAT2 PCDHA10
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA8 PCDHA3 PCDHA2 PCDHA7 PCDHA1 PCDHA6 PCDHA5 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