Hs03015067_cn

• Gene Symbol: PCDHB12
• Assay Reference Genome Location: Chr.5:141210036 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	1318	NP_061755.1
	AF152491.1	1	1129	AAD43752.1
	AF217746.1	1	1129	AAK51614.1
	AK293336.1	2	462
	AK316160.1	2	570
	BC045637.1	1	1318	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	PCDHB11 PCDHB12 PCDHB9 PCDHB10 PCDHB16
nsv823266	Chr.5:141156966 - 141222863 on Build GRCh38	Gain	PCDHB8 PCDHB11 PCDHB13 PCDHB12 PCDHB9 PCDHB10 PCDHB17P PCDHB14 PCDHB7 PCDHB16
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	PCDHB8 PCDHB13 PCDHB9 SLC25A2 PCDHB10 PCDHB14 PCDHB15 PCDHB5 PCDHB6 PCDHB2 PCDHB11 PCDHB1 PCDHB12 PCDHB4 LOC101926905 PCDHB3 PCDHB17P PCDHB7 PCDHB16 PCDHB18P TAF7 PCDHB19P
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB8 PCDHB13 PCDHB9 PCDHB10 PCDHB14 PCDHB15 PCDHB5 PCDHB6 PCDHB11 PCDHB12 PCDHB4 PCDHB17P PCDHB7 PCDHB16 PCDHB18P PCDHB19P
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB8 PCDHB11 PCDHB13 PCDHB12 PCDHB9 PCDHB10 PCDHB14 PCDHB7 PCDHB16 PCDHB18P PCDHB19P
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB8 PCDHB11 PCDHB13 PCDHB12 PCDHB9 PCDHB10 PCDHB7 PCDHB16
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB8 PCDHB13 PCDHB9 PCDHB10 PCDHB14 PCDHB15 PCDHB6 PCDHB11 PCDHB12 PCDHB17P PCDHB7 PCDHB16 PCDHB18P PCDHB19P
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHGA2 PCDHA10 PCDHAC2 PCDHGB7 PCDHA6 PCDHA12 PCDHGA5 PCDHB12 PCDHA11 PCDHB7 PCDHB16 PCDHGA4 PCDHB19P PCDHGB6 PCDHA5 PCDHGA9 PCDHA8 PCDHB14 PCDHGA6 PCDHAC1 PCDHB6 PCDHB2 PCDHGB8P PCDHB3 PCDHA1 PCDHGA12 PCDHA3 PCDHB8 PCDHGA8 PCDHGA11 PCDHB13 PCDHGB4 PCDHB9 SLC25A2 PCDHB10 PCDHB11 PCDHA2 PCDHA13 PCDHB17P PCDHGB2 TAF7 PCDHGA3 PCDHA9 PCDHGB1 PCDHA4 PCDHGA10 PCDHB15 PCDHB5 PCDHB1 PCDHB4 LOC101926905 PCDHGB3 PCDHGA1 PCDHA7 PCDHGA7 PCDHGB5 PCDHB18P
esv3606973	Chr.5:141203379 - 141210938 on Build GRCh38	Loss	PCDHB12
nsv969261	Chr.5:141199392 - 141210803 on Build GRCh38	Duplication	PCDHB11 PCDHB12
esv2730846	Chr.5:141193679 - 141210136 on Build GRCh38	Deletion	PCDHB11 PCDHB12 PCDHB10
nsv980737	Chr.5:141209299 - 141211497 on Build GRCh38	Duplication	PCDHB12
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB8 PCDHB11 PCDHB12 PCDHB9 PCDHB10 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