Hs02226555_cn

• Gene Symbol: PCDHB12
• Assay Reference Genome Location: Chr.5:141208839 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	121	NP_061755.1
	AK293336.1	1	143
	AK316160.1	1	121
	BC045637.1	1	121	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 PCDHB11 PCDHB12 PCDHB10 PCDHB9
esv2759382	Chr.5:140777355 - 141449115 on Build GRCh38	Gain	PCDHB16 PCDHB17P PCDHB18P PCDHA11 PCDHA5 PCDHA6 PCDHA8 PCDHA1 PCDHA10 PCDHB3 PCDHB19P PCDHB6 PCDHGA6 PCDHA3 PCDHB4 PCDHB12 PCDHGA12 PCDHAC2 PCDHGB2 PCDHGA7 PCDHGA3 PCDHGB4 PCDHB13 PCDHB14 PCDHGA2 PCDHB9 PCDHGB3 PCDHB11 PCDHA12 PCDHA7 TAF7 PCDHB8 PCDHGB7 PCDHGA10 PCDHGA11 PCDHA13 PCDHGB5 PCDHB2 PCDHA4 PCDHB15 LOC101926905 PCDHAC1 PCDHB7 PCDHGA1 PCDHGA5 PCDHA2 PCDHGA9 PCDHGA4 PCDHA9 PCDHGB8P PCDHB5 PCDHB10 PCDHB1 SLC25A2 PCDHGB1 PCDHGB6 PCDHGA8
esv3606974	Chr.5:141203379 - 141210938 on Build GRCh38	Gain	PCDHB12
nsv969261	Chr.5:141199392 - 141210803 on Build GRCh38	Duplication	PCDHB11 PCDHB12
nsv823266	Chr.5:141156966 - 141222863 on Build GRCh38	Gain	PCDHB16 PCDHB11 PCDHB12 PCDHB17P PCDHB7 PCDHB8 PCDHB13 PCDHB10 PCDHB14 PCDHB9
esv2730846	Chr.5:141193679 - 141210136 on Build GRCh38	Deletion	PCDHB11 PCDHB12 PCDHB10
nsv1024594	Chr.5:141167591 - 141243953 on Build GRCh38	Loss	PCDHB16 PCDHB11 PCDHB12 PCDHB7 PCDHB8 PCDHB18P PCDHB13 PCDHB19P PCDHB10 PCDHB14 PCDHB9
nsv471634	Chr.5:141106394 - 141258375 on Build GRCh38	Gain+Loss	PCDHB16 PCDHB4 PCDHB12 PCDHB17P PCDHB18P PCDHB13 PCDHB5 PCDHB10 PCDHB14 PCDHB15 PCDHB9 PCDHB11 PCDHB7 PCDHB8 PCDHB19P PCDHB6
nsv428127	Chr.5:141016768 - 141319173 on Build GRCh38	Loss	PCDHB16 PCDHB4 PCDHB12 PCDHB17P PCDHB18P PCDHB13 PCDHB5 PCDHB10 PCDHB14 PCDHB15 PCDHB1 PCDHB9 SLC25A2 LOC101926905 PCDHB11 PCDHB7 TAF7 PCDHB8 PCDHB3 PCDHB19P PCDHB2 PCDHB6
esv2664767	Chr.5:141177668 - 141213756 on Build GRCh38	Deletion	PCDHB16 PCDHB11 PCDHB12 PCDHB8 PCDHB10 PCDHB9
dgv958e201	Chr.5:141174165 - 141215536 on Build GRCh38	Deletion	PCDHB16 PCDHB11 PCDHB12 PCDHB7 PCDHB8 PCDHB13 PCDHB10 PCDHB9
nsv599908	Chr.5:141139584 - 141250122 on Build GRCh38	Loss	PCDHB16 PCDHB12 PCDHB17P PCDHB18P PCDHB13 PCDHB10 PCDHB14 PCDHB15 PCDHB9 PCDHB11 PCDHB7 PCDHB8 PCDHB19P PCDHB6

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