Hs02556047_cn

• Gene Symbol: PCDHB12
• Assay Reference Genome Location: Chr.5:141209017 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	299	NP_061755.1
	AF152491.1	1	110	AAD43752.1
	AF217746.1	1	110	AAK51614.1
	AK293336.1
	AK316160.1	1	299
	BC045637.1	1	299	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 PCDHB11 PCDHB10 PCDHB9 PCDHB16
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHB6 PCDHGA7 PCDHGA2 PCDHA3 PCDHB2 PCDHB5 LOC101926905 PCDHB13 PCDHB1 PCDHB12 PCDHGA6 PCDHA12 PCDHB14 PCDHB16 PCDHB19P PCDHGB5 PCDHAC2 PCDHGA12 PCDHGB1 PCDHGB7 PCDHGA8 PCDHB15 SLC25A2 PCDHB3 PCDHB18P PCDHGA11 PCDHB8 PCDHA4 PCDHGA3 PCDHGB8P PCDHA1 PCDHGA4 PCDHB10 PCDHGA5 PCDHGB2 PCDHA10 PCDHA8 PCDHA11 PCDHGB3 PCDHA6 PCDHB17P PCDHA5 PCDHGA10 TAF7 PCDHA9 PCDHGA9 PCDHA13 PCDHGB4 PCDHGB6 PCDHGA1 PCDHAC1 PCDHA7 PCDHA2 PCDHB7 PCDHB11 PCDHB9 PCDHB4
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	PCDHB13 PCDHB8 PCDHB12 PCDHB7 PCDHB11 PCDHB17P PCDHB14 PCDHB10 PCDHB9 PCDHB16
esv2730846	Chr.5:141193679 - 141210136 on Build GRCh38	Deletion	PCDHB12 PCDHB11 PCDHB10
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	PCDHB8 PCDHB6 PCDHB2 PCDHB10 PCDHB5 LOC101926905 PCDHB13 PCDHB1 PCDHB12 PCDHB7 PCDHB11 PCDHB17P PCDHB15 SLC25A2 PCDHB14 PCDHB3 TAF7 PCDHB9 PCDHB4 PCDHB16 PCDHB19P PCDHB18P
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB8 PCDHB6 PCDHB10 PCDHB5 PCDHB13 PCDHB12 PCDHB7 PCDHB11 PCDHB17P PCDHB15 PCDHB14 PCDHB9 PCDHB4 PCDHB16 PCDHB19P PCDHB18P
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB13 PCDHB8 PCDHB12 PCDHB7 PCDHB11 PCDHB14 PCDHB10 PCDHB9 PCDHB16 PCDHB19P PCDHB18P
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB13 PCDHB8 PCDHB12 PCDHB7 PCDHB11 PCDHB10 PCDHB9 PCDHB16
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB8 PCDHB12 PCDHB11 PCDHB10 PCDHB9 PCDHB16
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB8 PCDHB6 PCDHB10 PCDHB13 PCDHB12 PCDHB7 PCDHB11 PCDHB17P PCDHB15 PCDHB14 PCDHB9 PCDHB16 PCDHB19P PCDHB18P

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