Hs02841632_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140797332 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	NM_031495.1	1	2474	NP_113683.1
	NM_031496.1			NP_113684.1
	AF152310.1			AAD43704.1
	AF152480.1	1	2368	AAD43741.1
	BC003126.1			AAH03126.1

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

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