Hs01974814_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140807764 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA2	NM_018905.2			NP_061728.1
	AF152310.1			AAD43704.1

Target Gene Details

• Entrez Gene ID: 56145
• Gene Name: protocadherin alpha 3
• Gene Aliases: PCDH-ALPHA3
• Location: Chr.5:140801198-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA3	NM_018906.2			NP_061729.1
	AF152311.1			AAD43705.1

Target Gene Details

• Entrez Gene ID: 56144
• Gene Name: protocadherin alpha 4
• Gene Aliases: CNR1, CNRN1, CRNR1, PCDH-ALPHA4
• Location: Chr.5:140807074-141012344 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA4	NM_018907.3	1	691	NP_061730.1
	NM_031500.2	1	691	NP_113688.1
	AB208925.1	1	691	BAD92162.1
	AF152312.1	1	577	AAD43706.1
	AF152482.1	1	577	AAD43743.1
	AW161561.1	1	678
	BC112102.1	1	663	AAI12103.1
	BC113609.1	1	663

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	PCDHGB1 PCDHA10 PCDHGB3 PCDHA2 PCDHB13 PCDHB19P PCDHGA2 PCDHGA12 PCDHB6 PCDHGB5 PCDHB1 PCDHA5 PCDHGB2 PCDHB17P PCDHA11 PCDHB2 PCDHB15 PCDHB9 PCDHB8 PCDHB12 PCDHGA4 PCDHB5 PCDHB10 PCDHAC1 PCDHGB7 PCDHB7 PCDHGA8 PCDHB3 LOC101926905 PCDHGA1 PCDHGB6 PCDHA1 PCDHA13 PCDHA7 PCDHGA9 PCDHA6 PCDHA12 PCDHB16 PCDHA9 PCDHA3 PCDHB4 PCDHGA6 PCDHB11 PCDHA8 PCDHGA11 PCDHGA3 PCDHA4 PCDHB18P PCDHGB8P TAF7 PCDHB14 SLC25A2 PCDHGB4 PCDHAC2 PCDHGA7 PCDHGA10 PCDHGA5
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA1 PCDHA4 PCDHA11 PCDHA7 VTRNA1-2 HARS2 ZMAT2 PCDHA10 PCDHA6 PCDHA2 PCDHA9 VTRNA1-1 HARS PCDHA3 VTRNA1-3 PCDHA8 PCDHA5
esv8310	Chr.5:140807123 - 140841552 on Build GRCh38	Loss	PCDHA1 PCDHA2 PCDHA4 PCDHA3 PCDHA7 PCDHA8 PCDHA5 PCDHA6
nsv964949	Chr.5:140807234 - 140809467 on Build GRCh38	Duplication	PCDHA1 PCDHA2 PCDHA4 PCDHA3
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA1 PCDHA2 PCDHA4 PCDHA3 PCDHA7 PCDHA8 PCDHA5 PCDHA6
esv2659321	Chr.5:140807351 - 140821938 on Build GRCh38	Deletion	PCDHA1 PCDHA2 PCDHA4 PCDHA3 PCDHA5

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
protein binding