Hs02329019_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140841842 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA4	NM_018907.3			NP_061730.1
	AB208925.1			BAD92162.1
	AF152312.1			AAD43706.1

Target Gene Details

• Entrez Gene ID: 56143
• Gene Name: protocadherin alpha 5
• Gene Aliases: CNR6, CNRN6, CNRS6, CRNR6, PCDH-ALPHA5
• Location: Chr.5:140821776-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA5	NM_018908.2			NP_061731.1
	AB208863.1			BAD92100.1
	AF152313.1			AAD43707.1
	BC033735.1			AAH33735.1

Target Gene Details

• Entrez Gene ID: 56142
• Gene Name: protocadherin alpha 6
• Gene Aliases: CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6
• Location: Chr.5:140827922-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA6	NM_018909.3			NP_061732.1
	NM_031849.2			NP_114037.1
	AB209205.1			BAD92442.1
	AF152314.1			AAD43708.1
	AF169694.1			AAF89691.1
	BC036674.2			AAH36674.1

Target Gene Details

• Entrez Gene ID: 56141
• Gene Name: protocadherin alpha 7
• Gene Aliases: CNR4, CNRN4, CNRS4, CRNR4, PCDH-ALPHA7
• Location: Chr.5:140834384-141012344 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA7	NM_018910.2			NP_061733.1
	AF152315.1			AAD43709.1

Target Gene Details

• Entrez Gene ID: 56140
• Gene Name: protocadherin alpha 8
• Gene Aliases: PCDH-ALPHA8
• Location: Chr.5:140841322-141012344 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA8	NM_018911.2	1	521	NP_061734.1
	NM_031856.1	1	521	NP_114062.1
	AF152316.1	1	521	AAD43710.1
	AF152486.1	1	521	AAD43747.1
	BC136749.1	1	616
	BC136750.1	1	616

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv980734	Chr.5:140841022 - 140843672 on Build GRCh38	Duplication	PCDHA7 PCDHA4 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
nsv599839	Chr.5:140837299 - 140848579 on Build GRCh38	Gain	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
esv3566721	Chr.5:140840563 - 140861415 on Build GRCh38	Deletion	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA10 PCDHA8
dgv1651e212	Chr.5:140838196 - 140852242 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
esv33939	Chr.5:140837491 - 140859238 on Build GRCh38	Gain+Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA10 PCDHA8
nsv1024237	Chr.5:140810775 - 140852242 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
esv27071	Chr.5:140836128 - 140842469 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGB2 PCDHGA2 PCDHB19P PCDHGA6 PCDHGA8 PCDHGA7 PCDHA4 PCDHGA10 PCDHGA5 PCDHA7 PCDHB13 PCDHA1 LOC101926905 PCDHB11 PCDHA8 PCDHAC1 PCDHGA11 PCDHGB6 PCDHGA1 PCDHB16 PCDHA12 PCDHB3 PCDHB6 PCDHGB8P PCDHA13 PCDHB14 PCDHB1 PCDHB9 PCDHA2 PCDHGB7 PCDHB15 PCDHB12 PCDHGB5 PCDHB7 PCDHA6 PCDHB17P PCDHA10 PCDHB8 PCDHGA4 PCDHB5 PCDHA9 PCDHGA9 PCDHAC2 PCDHA5 PCDHB2 PCDHGB1 PCDHB10 PCDHA3 PCDHGB3 PCDHGA12 SLC25A2 PCDHGA3 TAF7 PCDHA11 PCDHB4 PCDHB18P PCDHGB4
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA7 HARS PCDHA9 HARS2 VTRNA1-2 PCDHA2 PCDHA5 VTRNA1-3 PCDHA1 PCDHA3 ZMAT2 PCDHA8 PCDHA4 PCDHA11 PCDHA6 PCDHA10 VTRNA1-1
nsv599841	Chr.5:140841349 - 140856513 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA10 PCDHA8
dgv1652e212	Chr.5:140839141 - 140864158 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA10 PCDHA8
dgv138e203	Chr.5:140838209 - 140874533 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA11 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA10 PCDHA8
esv2861013	Chr.5:140834461 - 140848573 on Build GRCh38	Duplication	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
esv3606957	Chr.5:140836164 - 140842460 on Build GRCh38	Gain	PCDHA7 PCDHA4 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA7 PCDHA4 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
nsv436885	Chr.5:140835434 - 140846096 on Build GRCh38	Insertion	PCDHA7 PCDHA4 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8
dgv10092n54	Chr.5:140835344 - 140850785 on Build GRCh38	Loss	PCDHA7 PCDHA4 PCDHA9 PCDHA2 PCDHA5 PCDHA6 PCDHA1 PCDHA3 PCDHA8

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