Hs00580350_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140849582 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA8	NM_018911.2			NP_061734.1
	AF152316.1			AAD43710.1

Target Gene Details

• Entrez Gene ID: 9752
• Gene Name: protocadherin alpha 9
• Gene Aliases: PCDH-ALPHA9
• Location: Chr.5:140847772-141012344 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHA9	NM_014005.4	1	1811	NP_054724.1
	NM_031857.1	1	1811	NP_114063.1
	AB002343.1	1	1811
	AF152317.1	1	1087	AAD43711.1
	AF152487.1	1	1087	AAD43748.1
	AJ007610.1	1	2120	CAC22257.1
	AK314303.1	1	1249
	BC104802.1	1	1180	AAI04803.1
	BC104804.1	1	1180	AAI04805.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv964953	Chr.5:140848155 - 140850849 on Build GRCh38	Duplication	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
nsv437955	Chr.5:140848387 - 140850586 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
nsv819207	Chr.5:140842721 - 140859461 on Build GRCh38	Gain	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
esv33939	Chr.5:140837491 - 140859238 on Build GRCh38	Gain+Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv1651e212	Chr.5:140838196 - 140852242 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
nsv10753	Chr.5:140842575 - 140859579 on Build GRCh38	Gain	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA3 PCDHGA2 PCDHB4 PCDHGB4 PCDHGA8 PCDHA9 PCDHA6 PCDHB15 PCDHA4 PCDHA7 PCDHGA10 PCDHA5 PCDHGB7 PCDHB11 TAF7 PCDHGA11 PCDHB9 PCDHA12 PCDHB18P PCDHB7 PCDHA10 PCDHA13 PCDHA11 PCDHGB5 PCDHAC2 PCDHGB8P PCDHAC1 PCDHA1 PCDHB1 PCDHB12 PCDHB14 SLC25A2 PCDHA2 PCDHA8 PCDHGA9 PCDHB19P PCDHGA4 PCDHGB1 PCDHB13 PCDHB16 PCDHGA6 PCDHGA1 PCDHB5 PCDHB8 PCDHGA12 PCDHGB6 PCDHB6 PCDHA3 PCDHGA5 PCDHGA7 PCDHB10 PCDHB3 PCDHB2 PCDHGB3 PCDHB17P PCDHGB2 LOC101926905
dgv138e203	Chr.5:140838209 - 140874533 on Build GRCh38	Loss	PCDHA11 PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv1653e212	Chr.5:140839141 - 140874132 on Build GRCh38	Loss	PCDHA11 PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
nsv515909	Chr.5:140848414 - 140852761 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
esv3606958	Chr.5:140842689 - 140859762 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
nsv442962	Chr.5:140844251 - 140864171 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
esv3566721	Chr.5:140840563 - 140861415 on Build GRCh38	Deletion	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
nsv514324	Chr.5:140844231 - 140859031 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv971n67	Chr.5:140842564 - 140859431 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv724n27	Chr.5:140847633 - 140852761 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
nsv1024237	Chr.5:140810775 - 140852242 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
dgv1043e199	Chr.5:140842260 - 140861207 on Build GRCh38	Deletion	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv3182n106	Chr.5:140842552 - 140859353 on Build GRCh38	Deletion	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
esv2730839	Chr.5:140842540 - 140859393 on Build GRCh38	Deletion	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
nsv1135376	Chr.5:140849315 - 140859915 on Build GRCh38	Deletion	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA2 PCDHA8 PCDHA9 VTRNA1-2 PCDHA10 PCDHA6 ZMAT2 VTRNA1-1 PCDHA11 HARS2 VTRNA1-3 PCDHA4 PCDHA7 HARS PCDHA5 PCDHA1 PCDHA3
nsv599841	Chr.5:140841349 - 140856513 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv10094n54	Chr.5:140846323 - 140860465 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv10092n54	Chr.5:140835344 - 140850785 on Build GRCh38	Loss	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3
esv29977	Chr.5:140843471 - 140856955 on Build GRCh38	Gain	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA10 PCDHA6 PCDHA3
dgv1044e199	Chr.5:140843360 - 140849907 on Build GRCh38	Deletion	PCDHA4 PCDHA2 PCDHA8 PCDHA7 PCDHA9 PCDHA5 PCDHA1 PCDHA6 PCDHA3

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