Hs01223506_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140851373 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	3602	NP_054724.1
	NM_031857.1			NP_114063.1
	AB002343.1	1	3602
	AF152317.1			AAD43711.1
	AJ007610.1			CAC22257.1
	AK314303.1
	BC104802.1			AAI04803.1
	BC104804.1			AAI04805.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv819207	Chr.5:140842721 - 140859461 on Build GRCh38	Gain	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv33939	Chr.5:140837491 - 140859238 on Build GRCh38	Gain+Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv1651e212	Chr.5:140838196 - 140852242 on Build GRCh38	Loss	PCDHA6 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv10753	Chr.5:140842575 - 140859579 on Build GRCh38	Gain	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA6 PCDHGA7 PCDHAC2 PCDHGB3 PCDHA10 PCDHB3 PCDHB13 PCDHA4 SLC25A2 PCDHGA8 PCDHA6 PCDHB19P PCDHA1 PCDHGB1 PCDHB8 PCDHA8 PCDHB12 PCDHB16 PCDHGB8P PCDHB6 TAF7 PCDHGB5 PCDHGB7 PCDHGA3 PCDHB10 PCDHB14 PCDHGB6 PCDHB15 PCDHGB4 PCDHGB2 PCDHGA9 PCDHB1 PCDHA2 PCDHA11 PCDHB18P PCDHB2 PCDHB5 PCDHAC1 PCDHB17P PCDHA9 PCDHA5 PCDHB4 PCDHB7 PCDHGA12 PCDHA7 PCDHGA10 PCDHB9 PCDHA13 PCDHA12 LOC101926905 PCDHGA2 PCDHB11 PCDHGA5 PCDHGA1 PCDHGA11 PCDHA3 PCDHGA4
dgv138e203	Chr.5:140838209 - 140874533 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2 PCDHA11
dgv1653e212	Chr.5:140839141 - 140874132 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2 PCDHA11
nsv515909	Chr.5:140848414 - 140852761 on Build GRCh38	Loss	PCDHA6 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv3606958	Chr.5:140842689 - 140859762 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv442962	Chr.5:140844251 - 140864171 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv3566721	Chr.5:140840563 - 140861415 on Build GRCh38	Deletion	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv514324	Chr.5:140844231 - 140859031 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv971n67	Chr.5:140842564 - 140859431 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv724n27	Chr.5:140847633 - 140852761 on Build GRCh38	Loss	PCDHA6 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv1024237	Chr.5:140810775 - 140852242 on Build GRCh38	Loss	PCDHA6 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv1043e199	Chr.5:140842260 - 140861207 on Build GRCh38	Deletion	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv3182n106	Chr.5:140842552 - 140859353 on Build GRCh38	Deletion	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv2730839	Chr.5:140842540 - 140859393 on Build GRCh38	Deletion	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv1135376	Chr.5:140849315 - 140859915 on Build GRCh38	Deletion	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv2657537	Chr.5:140850410 - 140855957 on Build GRCh38	Deletion	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	PCDHA6 PCDHA5 VTRNA1-2 PCDHA1 PCDHA8 PCDHA7 HARS2 PCDHA2 VTRNA1-1 PCDHA11 PCDHA10 HARS VTRNA1-3 PCDHA4 PCDHA3 PCDHA9 ZMAT2
nsv599841	Chr.5:140841349 - 140856513 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
nsv599859	Chr.5:140849850 - 140852165 on Build GRCh38	Loss	PCDHA6 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv10094n54	Chr.5:140846323 - 140860465 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
esv29977	Chr.5:140843471 - 140856955 on Build GRCh38	Gain	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2
dgv10099n54	Chr.5:140850785 - 140859109 on Build GRCh38	Loss	PCDHA6 PCDHA10 PCDHA5 PCDHA1 PCDHA8 PCDHA4 PCDHA3 PCDHA7 PCDHA9 PCDHA2

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