Hs05396593_cn

• Gene Symbol: CDH15
• Assay Reference Genome Location: Chr.16:89182769 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 1013
• Gene Name: cadherin 15
• Gene Aliases: CDH14, CDH3, CDHM, MCAD, MRD3
• Location: Chr.16:89171755-89195492 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDH15	NM_004933.2			NP_004924.1
	AK308596.1	3	412
	AK308631.1
	BC008951.2			AAH08951.1
	D83542.1			BAA12012.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv952072	Chr.16:89032193 - 89201992 on Build GRCh38	Deletion	LOC400558 CDH15 SLC22A31 LINC00304 ACSF3
nsv1063024	Chr.16:88707330 - 89238482 on Build GRCh38	Gain	LOC100129697 PIEZO1 LOC400558 CBFA2T3 LOC339059 CDH15 ACSF3 PABPN1L MIR4722 LOC107987238 CTU2 GALNS ZNF778 LOC101927793 LOC100289580 SLC22A31 LINC00304 APRT TRAPPC2L LOC105371409 CDT1
nsv471115	Chr.16:88801844 - 89197442 on Build GRCh38	Loss	LOC100129697 LOC400558 CBFA2T3 CDH15 ACSF3 PABPN1L LOC107987238 GALNS LOC101927793 SLC22A31 LINC00304 APRT TRAPPC2L LOC105371409 CDT1
nsv573720	Chr.16:88968841 - 89184474 on Build GRCh38	Gain	LOC400558 CBFA2T3 CDH15 LINC00304 ACSF3
nsv457621	Chr.16:89100686 - 89217401 on Build GRCh38	Loss	ZNF778 LOC400558 CDH15 SLC22A31 LINC00304 ACSF3
nsv573674	Chr.16:88738775 - 89325907 on Build GRCh38	Gain	LOC100129697 PIEZO1 LOC400558 CBFA2T3 LOC339059 CDH15 ACSF3 LOC100287036 ANKRD11 PABPN1L LOC107987238 GALNS ZNF778 LOC101927793 LOC100289580 SLC22A31 LINC00304 LOC105371414 APRT TRAPPC2L LOC105371409 CDT1
dgv3066n100	Chr.16:89067685 - 89301626 on Build GRCh38	Gain	ZNF778 LOC400558 CDH15 SLC22A31 LINC00304 LOC105371414 ACSF3 ANKRD11
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	TCF25 GAS8 GAS8-AS1 FANCA LOC107987238 CPNE7 FAM157C LOC105371419 GALNS ZNF778 LOC100289580 LINC00304 SPIRE2 DBNDD1 LOC105371409 PRDM7 TUBB8P7 RPL13 CDK10 LOC400558 CBFA2T3 CDH15 ANKRD11 SNAI3 ZNF276 SNORD68 DEF8 CYBA VPS9D1-AS1 LOC105371414 MVD SPG7 AFG3L1P MC1R CHMP1A TUBB3 PIEZO1 DPEP1 LOC100287036 LOC101927817 LOC107984817 SLC22A31 APRT SPATA33 SNAI3-AS1 TRAPPC2L CDT1 LOC100129697 LOC339059 CENPBD1 RNF166 ACSF3 PABPN1L MIR4722 IL17C CTU2 URAHP LOC101927793 SPATA2L VPS9D1
dgv5320n54	Chr.16:89114475 - 89197443 on Build GRCh38	Loss	LOC400558 CDH15 SLC22A31 LINC00304 ACSF3
nsv573728	Chr.16:89179547 - 89193067 on Build GRCh38	Gain+Loss	CDH15
nsv509638	Chr.16:89152681 - 89296203 on Build GRCh38	Insertion	ZNF778 LOC400558 CDH15 SLC22A31 LINC00304 LOC105371414 ACSF3 ANKRD11
nsv573727	Chr.16:89169527 - 89193067 on Build GRCh38	Loss	CDH15
nsv1141297	Chr.16:89182392 - 89191792 on Build GRCh38	Duplication	CDH15

More Information

Additional Information:

For this assay, SNP(s) [rs143381389] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

cell adhesion
homophilic cell adhesion via plasma membrane adhesion molecules
adherens junction organization
positive regulation of muscle cell differentiation

Function(s)

calcium ion binding
protein binding