Hs01069680_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140786336 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	201	NP_061723.1
	NM_031410.2	1	201	NP_113598.1
	NM_031411.2	1	201	NP_113599.1
	AF152305.1			AAD43699.1
	AF152479.1			AAD43740.1
	AF169695.1			AAF89692.1
	DA330326.1	1	201

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	PCDHGA6 PCDHGA10 SLC25A2 PCDHGB2 PCDHGB5 PCDHA7 TAF7 PCDHB11 PCDHGB6 PCDHA9 PCDHB3 PCDHB9 PCDHB5 PCDHB18P PCDHA5 PCDHGA4 PCDHB2 PCDHA1 PCDHGA12 LOC101926905 PCDHB1 PCDHA6 PCDHB10 PCDHB15 PCDHGB1 PCDHAC2 PCDHA8 PCDHA4 PCDHGB7 PCDHGA5 PCDHA13 PCDHB7 PCDHB4 PCDHGA7 PCDHA2 PCDHB16 PCDHAC1 PCDHGA11 PCDHGB8P PCDHGA2 PCDHGA1 PCDHB6 PCDHGA9 PCDHA10 PCDHB14 PCDHGA8 PCDHB13 PCDHGA3 PCDHGB4 PCDHB8 PCDHB12 PCDHB19P PCDHGB3 PCDHA3 PCDHB17P PCDHA11 PCDHA12
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA5 PCDHA1 HARS VTRNA1-3 HARS2 VTRNA1-2 ZMAT2 PCDHA6 PCDHA7 PCDHA10 PCDHA2 PCDHA9 VTRNA1-1 PCDHA3 PCDHA8 PCDHA4 PCDHA11
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA5 PCDHA1 PCDHA2 PCDHA3 PCDHA8 PCDHA4 PCDHA6 PCDHA7
nsv964946	Chr.5:140786102 - 140786602 on Build GRCh38	Duplication	PCDHA1

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