Hs02938207_cn

• Gene Symbol: PCDHA1
• Assay Reference Genome Location: Chr.5:140843365 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	2044	NP_061734.1
	NM_031856.1	1	2044	NP_114062.1
	AF152316.1	1	2044	AAD43710.1
	AF152486.1	1	2044	AAD43747.1
	BC136749.1	1	2139
	BC136750.1	1	2139

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv599839	Chr.5:140837299 - 140848579 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv819207	Chr.5:140842721 - 140859461 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv1651e212	Chr.5:140838196 - 140852242 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv33939	Chr.5:140837491 - 140859238 on Build GRCh38	Gain+Loss	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv10753	Chr.5:140842575 - 140859579 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA2 PCDHAC1 TAF7 PCDHB14 PCDHGB5 PCDHGA6 SLC25A2 PCDHA13 PCDHGA8 PCDHGA11 PCDHB2 PCDHB16 PCDHGB6 PCDHB6 PCDHA3 PCDHGA9 PCDHB19P PCDHGA1 PCDHB11 PCDHGA5 PCDHGA3 PCDHGA10 PCDHB1 PCDHAC2 LOC101926905 PCDHB4 PCDHGB2 PCDHA10 PCDHB10 PCDHA4 PCDHB5 PCDHB3 PCDHB18P PCDHA9 PCDHB7 PCDHA5 PCDHA12 PCDHB9 PCDHGA4 PCDHA6 PCDHB15 PCDHA7 PCDHGB7 PCDHGB1 PCDHA1 PCDHGA12 PCDHA8 PCDHB17P PCDHGB8P PCDHB12 PCDHB8 PCDHGA7 PCDHA11 PCDHGB4 PCDHA2 PCDHB13 PCDHGB3
dgv1652e212	Chr.5:140839141 - 140864158 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv138e203	Chr.5:140838209 - 140874533 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA11 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv970n67	Chr.5:140784829 - 140843644 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv1133616	Chr.5:140842215 - 140848715 on Build GRCh38	Deletion	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv436885	Chr.5:140835434 - 140846096 on Build GRCh38	Insertion	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv980734	Chr.5:140841022 - 140843672 on Build GRCh38	Duplication	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv972n67	Chr.5:140843057 - 140843649 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv3606958	Chr.5:140842689 - 140859762 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv3566721	Chr.5:140840563 - 140861415 on Build GRCh38	Deletion	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv26168	Chr.5:140842564 - 140859300 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv1024237	Chr.5:140810775 - 140852242 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv3182n106	Chr.5:140842552 - 140859353 on Build GRCh38	Deletion	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv1043e199	Chr.5:140842260 - 140861207 on Build GRCh38	Deletion	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv2730839	Chr.5:140842540 - 140859393 on Build GRCh38	Deletion	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv830508	Chr.5:140675388 - 140869073 on Build GRCh38	Loss	VTRNA1-1 VTRNA1-2 PCDHA1 PCDHA10 PCDHA4 HARS2 PCDHA8 PCDHA9 PCDHA3 ZMAT2 PCDHA5 PCDHA6 PCDHA11 VTRNA1-3 PCDHA7 HARS PCDHA2
nsv599841	Chr.5:140841349 - 140856513 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA10 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
esv2861013	Chr.5:140834461 - 140848573 on Build GRCh38	Duplication	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
nsv823251	Chr.5:140842018 - 140843644 on Build GRCh38	Gain	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv10092n54	Chr.5:140835344 - 140850785 on Build GRCh38	Loss	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 PCDHA2
dgv1044e199	Chr.5:140843360 - 140849907 on Build GRCh38	Deletion	PCDHA6 PCDHA1 PCDHA4 PCDHA8 PCDHA9 PCDHA3 PCDHA7 PCDHA5 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