Hs03067833_cn

• Gene Symbol: PCDHB12
• Assay Reference Genome Location: Chr.5:141211405 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	2687	NP_061755.1
	AF217746.1	1	2498	AAK51614.1
	AK293336.1	2	1831
	AK316160.1	2	1939
	BC045637.1	1	2687	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	PCDHB9 PCDHB11 PCDHB10 PCDHB12 PCDHB16
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA4 PCDHGA6 PCDHGB7 SLC25A2 PCDHA10 PCDHA1 PCDHGB6 PCDHB6 LOC101926905 PCDHGB4 PCDHB16 PCDHAC2 PCDHB8 PCDHGA12 TAF7 PCDHA3 PCDHA6 PCDHA7 PCDHA9 PCDHB14 PCDHGB2 PCDHB15 PCDHB12 PCDHGB5 PCDHGA11 PCDHGA5 PCDHB7 PCDHB13 PCDHB4 PCDHGA3 PCDHB1 PCDHGA2 PCDHB19P PCDHGA1 PCDHB5 PCDHGB1 PCDHA13 PCDHA5 PCDHB17P PCDHGA9 PCDHAC1 PCDHA8 PCDHB3 PCDHB11 PCDHA4 PCDHGA8 PCDHB10 PCDHA11 PCDHGA10 PCDHA2 PCDHA12 PCDHB9 PCDHGB3 PCDHB2 PCDHGB8P PCDHGA7 PCDHB18P
nsv823266	Chr.5:141156966 - 141222863 on Build GRCh38	Gain	PCDHB9 PCDHB8 PCDHB14 PCDHB11 PCDHB7 PCDHB10 PCDHB17P PCDHB12 PCDHB13 PCDHB16
nsv980737	Chr.5:141209299 - 141211497 on Build GRCh38	Duplication	PCDHB12
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB9 PCDHB8 PCDHB14 PCDHB11 PCDHB19P PCDHB7 PCDHB10 PCDHB12 PCDHB13 PCDHB18P PCDHB16
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB8 PCDHB11 PCDHB7 PCDHB10 PCDHB13 PCDHB4 PCDHB9 PCDHB14 PCDHB19P PCDHB15 PCDHB5 PCDHB6 PCDHB17P PCDHB12 PCDHB18P PCDHB16
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	PCDHB3 PCDHB8 PCDHB11 PCDHB7 PCDHB10 SLC25A2 TAF7 PCDHB13 PCDHB4 PCDHB9 PCDHB1 PCDHB14 PCDHB19P PCDHB15 PCDHB5 PCDHB2 PCDHB6 LOC101926905 PCDHB17P PCDHB12 PCDHB18P PCDHB16
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB9 PCDHB8 PCDHB11 PCDHB10 PCDHB12 PCDHB16
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB9 PCDHB8 PCDHB11 PCDHB7 PCDHB10 PCDHB12 PCDHB13 PCDHB16
nsv823277	Chr.5:141210978 - 141215570 on Build GRCh38	Gain	PCDHB12 PCDHB13
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB8 PCDHB11 PCDHB7 PCDHB10 PCDHB13 PCDHB9 PCDHB14 PCDHB19P PCDHB15 PCDHB6 PCDHB17P PCDHB12 PCDHB18P PCDHB16

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