Hs05137247_cn

• Gene Symbol: PCDH15
• Assay Reference Genome Location: Chr.10:53807775 on build GRCh38
• Cytoband: 10q21.1

Target Gene Details

• Entrez Gene ID: 65217
• Gene Name: protocadherin related 15
• Gene Aliases: CDHR15, DFNB23, USH1F
• Location: Chr.10:53802771-55629182 on Build GRCh38
• Assay Gene Location: Within Intron 47

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PCDH15	NM_001142771.1			NP_001136243.1
	NM_001142772.1			NP_001136244.1
	XM_017016571.1			XP_016872060.1
	XM_017016572.1			XP_016872061.1
	EU718482.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1041917	Chr.10:52741572 - 55682853 on Build GRCh38	Loss	LOC105378311 MIR548F1 MBL2 MTRNR2L5 PCDH15
esv2750962	Chr.10:52972795 - 55555375 on Build GRCh38	Loss	LOC105378311 MIR548F1 PCDH15
dgv861n100	Chr.10:53792127 - 53821891 on Build GRCh38	Loss	PCDH15
esv2759753	Chr.10:53597376 - 53827170 on Build GRCh38	Loss	PCDH15
dgv1146n54	Chr.10:53034448 - 54727838 on Build GRCh38	Loss	LOC105378311 MIR548F1 PCDH15

More Information

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

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

homophilic cell adhesion via plasma membrane adhesion molecules
sensory perception of sound
photoreceptor cell maintenance
inner ear development
sensory perception of light stimulus
equilibrioception

Function(s)

calcium ion binding