Hs02961877_cn

• Gene Symbol: PCDHB12
• Assay Reference Genome Location: Chr.5:141209380 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	662	NP_061755.1
	AF152491.1	1	473	AAD43752.1
	AF217746.1	1	473	AAK51614.1
	AK293336.1
	AK316160.1
	BC045637.1	1	662	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	PCDHB10 PCDHB11 PCDHB12 PCDHB9 PCDHB16
nsv823266	Chr.5:141156966 - 141222863 on Build GRCh38	Gain	PCDHB8 PCDHB10 PCDHB11 PCDHB7 PCDHB12 PCDHB14 PCDHB9 PCDHB17P PCDHB16 PCDHB13
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB8 PCDHB10 PCDHB18P PCDHB11 PCDHB7 PCDHB12 PCDHB14 PCDHB19P PCDHB9 PCDHB16 PCDHB13
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB6 PCDHB10 PCDHB18P PCDHB5 PCDHB9 PCDHB17P PCDHB16 PCDHB8 PCDHB15 PCDHB4 PCDHB11 PCDHB7 PCDHB12 PCDHB14 PCDHB19P PCDHB13
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	LOC101926905 PCDHB6 PCDHB10 PCDHB18P PCDHB1 SLC25A2 PCDHB5 PCDHB9 PCDHB17P PCDHB16 PCDHB8 PCDHB15 TAF7 PCDHB3 PCDHB4 PCDHB11 PCDHB7 PCDHB12 PCDHB14 PCDHB19P PCDHB2 PCDHB13
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB8 PCDHB10 PCDHB11 PCDHB7 PCDHB12 PCDHB9 PCDHB16 PCDHB13
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB6 PCDHB10 PCDHB18P PCDHB9 PCDHB17P PCDHB16 PCDHB8 PCDHB15 PCDHB11 PCDHB7 PCDHB12 PCDHB14 PCDHB19P PCDHB13
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHB18P PCDHGB8P PCDHGB1 PCDHGA1 PCDHB1 PCDHGA11 PCDHA7 PCDHGA5 PCDHGA12 PCDHGB6 PCDHA6 PCDHGA3 PCDHA12 PCDHGB4 PCDHB15 PCDHB4 PCDHA8 LOC101926905 PCDHB6 PCDHGB3 PCDHGB5 PCDHB11 PCDHA13 PCDHGB2 PCDHB10 PCDHA3 PCDHGA7 PCDHB5 PCDHB9 PCDHGA6 PCDHB17P PCDHA5 PCDHB3 PCDHGA8 PCDHAC1 PCDHB12 PCDHB14 PCDHA10 PCDHGA10 PCDHB19P PCDHGA9 PCDHGA4 PCDHAC2 PCDHGB7 SLC25A2 PCDHA11 PCDHA9 PCDHB16 PCDHA1 PCDHB8 TAF7 PCDHA2 PCDHA4 PCDHB7 PCDHB2 PCDHB13 PCDHGA2
esv3606974	Chr.5:141203379 - 141210938 on Build GRCh38	Gain	PCDHB12
nsv969261	Chr.5:141199392 - 141210803 on Build GRCh38	Duplication	PCDHB11 PCDHB12
esv2730846	Chr.5:141193679 - 141210136 on Build GRCh38	Deletion	PCDHB10 PCDHB11 PCDHB12
nsv980737	Chr.5:141209299 - 141211497 on Build GRCh38	Duplication	PCDHB12
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB8 PCDHB10 PCDHB11 PCDHB12 PCDHB9 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