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

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