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

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