Hs03642454_cn

• Gene Symbol: PDE1C
• Assay Reference Genome Location: Chr.7:31699300 on build GRCh38
• Cytoband: 7p14.3

Target Gene Details

• Entrez Gene ID: 5137
• Gene Name: phosphodiesterase 1C
• Gene Aliases: Hcam3, cam-PDE 1C, hCam-3
• Location: Chr.7:31616777-32428224 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE1C

Target Gene Details

• Entrez Gene ID: 10842
• Gene Name: protein phosphatase 1 regulatory subunit 17
• Gene Aliases: C7orf16, GSBS
• Location: Chr.7:31687017-31709931 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPP1R17	NM_001145123.2			NP_001138595.1
	NM_006658.4			NP_006649.2
	XM_011515094.1			XP_011513396.1
	AF071789.1			AAD12588.1
	AF097730.1			AAD13030.1
	AK293478.1
	AK312989.1
	BC028094.1			AAH28094.1
	DB039499.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2752155	Chr.7:31584132 - 31700017 on Build GRCh38	Gain	PPP1R17 CCDC129 PDE1C
esv3612723	Chr.7:31646533 - 31888101 on Build GRCh38	Gain	PPP1R17 CCDC129 PDE1C
esv3612724	Chr.7:31646828 - 31721794 on Build GRCh38	Gain	PPP1R17 CCDC129 PDE1C
nsv436557	Chr.7:30288062 - 32730902 on Build GRCh38	Deletion	AVL9 ZNRF2 DKFZP586I1420 NOD1 GHRHR AQP1 NEUROD6 INMT ADCYAP1R1 CRHR2 FAM188B LOC401320 LOC100130673 GARS DPY19L1P1 MIR550A1 PDE1C LOC101928268 ZNRF2P1 LINC01176 LSM5 INMT-FAM188B MIR550B1 PPP1R17 CCDC129 GGCT

More Information

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

Panther Classification:

Molecular Function -

phosphatase modulator

Gene Ontology Categories:

Process(es)

central nervous system development
regulation of phosphatase activity
intracellular signal transduction
negative regulation of catalytic activity

Function(s)

protein serine/threonine phosphatase inhibitor activity