Hs01424064_cn

• Gene Symbol: PCDHB12
• Assay Reference Genome Location: Chr.5:141209177 on build GRCh38
• Cytoband: 5q31.3

Target Gene Details

• Entrez Gene ID: 56124
• Gene Name: protocadherin beta 12
• Gene Aliases: PCDH-BETA12
• Location: Chr.5:141208719-141212126 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDHB12	NM_018932.3	1	459	NP_061755.1
	AF152491.1	1	270	AAD43752.1
	AF217746.1	1	270	AAK51614.1
	AK293336.1
	AK316160.1
	BC045637.1	1	459	AAH45637.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv599919	Chr.5:141182193 - 141212836 on Build GRCh38	Loss	PCDHB12 PCDHB9 PCDHB10 PCDHB16 PCDHB11
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	LOC101926905 PCDHGA7 PCDHGA4 PCDHGB1 PCDHA1 PCDHB16 PCDHGA3 SLC25A2 PCDHGA8 PCDHA12 PCDHB6 PCDHGA10 PCDHA13 PCDHGA12 PCDHA9 PCDHB1 PCDHGB4 PCDHGA9 TAF7 PCDHA10 PCDHGA11 PCDHAC2 PCDHA7 PCDHGA5 PCDHB3 PCDHGB2 PCDHB13 PCDHGB3 PCDHB15 PCDHA3 PCDHB11 PCDHA11 PCDHA4 PCDHB4 PCDHA5 PCDHB9 PCDHGB8P PCDHB10 PCDHA8 PCDHGA1 PCDHB7 PCDHGA6 PCDHB12 PCDHGB7 PCDHAC1 PCDHB2 PCDHB5 PCDHB14 PCDHB8 PCDHB17P PCDHGB5 PCDHB19P PCDHA6 PCDHGA2 PCDHB18P PCDHGB6 PCDHA2
esv3606974	Chr.5:141203379 - 141210938 on Build GRCh38	Gain	PCDHB12
nsv969261	Chr.5:141199392 - 141210803 on Build GRCh38	Duplication	PCDHB12 PCDHB11
nsv823266	Chr.5:141156966 - 141222863 on Build GRCh38	Gain	PCDHB12 PCDHB9 PCDHB10 PCDHB13 PCDHB16 PCDHB14 PCDHB7 PCDHB8 PCDHB17P PCDHB11
esv2730846	Chr.5:141193679 - 141210136 on Build GRCh38	Deletion	PCDHB12 PCDHB10 PCDHB11
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB12 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB16 PCDHB18P PCDHB14 PCDHB7 PCDHB8 PCDHB11
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB12 PCDHB16 PCDHB5 PCDHB4 PCDHB14 PCDHB8 PCDHB17P PCDHB6 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB18P PCDHB15 PCDHB7 PCDHB11
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	PCDHB12 LOC101926905 TAF7 PCDHB16 PCDHB2 PCDHB5 PCDHB4 PCDHB14 PCDHB8 PCDHB17P SLC25A2 PCDHB3 PCDHB6 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB18P PCDHB15 PCDHB1 PCDHB7 PCDHB11
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB12 PCDHB9 PCDHB10 PCDHB16 PCDHB8 PCDHB11
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB12 PCDHB9 PCDHB10 PCDHB13 PCDHB16 PCDHB7 PCDHB8 PCDHB11
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB12 PCDHB16 PCDHB14 PCDHB8 PCDHB17P PCDHB6 PCDHB9 PCDHB10 PCDHB19P PCDHB13 PCDHB18P PCDHB15 PCDHB7 PCDHB11

More Information

• Set Membership: Intragenic, 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