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