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	PCDHB16 PCDHB12 PCDHB11 PCDHB10 PCDHB9
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHB8 PCDHGB7 PCDHA3 PCDHB11 PCDHGA5 PCDHGA12 PCDHGA7 PCDHGA1 PCDHGB2 PCDHB6 PCDHA4 PCDHB7 PCDHA12 PCDHB14 PCDHGA9 PCDHGB8P SLC25A2 LOC101926905 PCDHGB3 PCDHA9 PCDHGA3 PCDHB15 PCDHB3 PCDHB9 PCDHA13 PCDHB16 PCDHGA2 PCDHB12 TAF7 PCDHB10 PCDHGA8 PCDHGB4 PCDHGA10 PCDHA7 PCDHB1 PCDHGB5 PCDHGB6 PCDHA5 PCDHB17P PCDHGA11 PCDHB18P PCDHA1 PCDHA2 PCDHGB1 PCDHGA4 PCDHAC2 PCDHB13 PCDHA6 PCDHB4 PCDHA10 PCDHB5 PCDHB2 PCDHA8 PCDHB19P PCDHA11 PCDHAC1 PCDHGA6
esv3606973	Chr.5:141203379 - 141210938 on Build GRCh38	Loss	PCDHB12
nsv969261	Chr.5:141199392 - 141210803 on Build GRCh38	Duplication	PCDHB12 PCDHB11
nsv823266	Chr.5:141156966 - 141222863 on Build GRCh38	Gain	PCDHB17P PCDHB8 PCDHB13 PCDHB16 PCDHB12 PCDHB11 PCDHB10 PCDHB7 PCDHB14 PCDHB9
esv2730846	Chr.5:141193679 - 141210136 on Build GRCh38	Deletion	PCDHB12 PCDHB11 PCDHB10
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	PCDHB8 PCDHB1 PCDHB13 PCDHB11 PCDHB15 PCDHB3 PCDHB4 PCDHB9 PCDHB5 PCDHB17P PCDHB2 PCDHB16 PCDHB12 PCDHB19P PCDHB18P TAF7 PCDHB6 PCDHB10 PCDHB7 PCDHB14 SLC25A2 LOC101926905
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB8 PCDHB13 PCDHB11 PCDHB15 PCDHB4 PCDHB9 PCDHB5 PCDHB17P PCDHB16 PCDHB12 PCDHB19P PCDHB18P PCDHB6 PCDHB10 PCDHB7 PCDHB14
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB8 PCDHB13 PCDHB16 PCDHB12 PCDHB19P PCDHB18P PCDHB11 PCDHB10 PCDHB7 PCDHB14 PCDHB9
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB8 PCDHB13 PCDHB16 PCDHB12 PCDHB11 PCDHB10 PCDHB7 PCDHB9
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB8 PCDHB16 PCDHB12 PCDHB11 PCDHB10 PCDHB9
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB8 PCDHB13 PCDHB11 PCDHB15 PCDHB9 PCDHB17P PCDHB16 PCDHB12 PCDHB19P PCDHB18P PCDHB6 PCDHB10 PCDHB7 PCDHB14

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