Hs03980439_cn

• Gene Symbol: PDE6G
• Assay Reference Genome Location: Chr.17:81654307 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 5148
• Gene Name: phosphodiesterase 6G
• Gene Aliases: PDEG, RP57
• Location: Chr.17:81650459-81663418 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE6G	NM_002602.3			NP_002593.1
	NR_026872.1
	XM_006721942.3			XP_006722005.1
	XM_017024734.1			XP_016880223.1
	BC106884.2			AAI06885.1
	BQ638010.1
	BQ639132.1
	BX537414.1			CAD97656.1
	BX647779.1
	M36476.1			AAA60044.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv828128	Chr.17:80659041 - 81736487 on Build GRCh38	Loss	TMEM105 MIR3186 OXLD1 TEPSIN MIR1250 HGS LOC105371921 LOC107985022 C17orf89 RPTOR MIR6786 AATK BAIAP2 TSPAN10 PDE6G MIR4740 CHMP6 CEP131 LOC107985021 MRPL12 ACTG1 LOC100129503 AATK-AS1 MIR338 LOC101928855 NPLOC4 FSCN2 ARL16 BAHCC1 SLC38A10 SLC25A10 LOC100130370 BAIAP2-AS1 MIR3065 LOC400627 LINC00482 LOC105371925 MIR657 FAAP100 CCDC137
nsv428351	Chr.17:81152631 - 83064073 on Build GRCh38	Gain	PYCR1 TMEM105 GPS1 OXLD1 TEPSIN NPB MCRIP1 TEX19 CCDC57 MIR6786 MIR6787 OGFOD3 RFNG NOTUM LOC101929552 PDE6G RAB40B MIR4740 LRRC45 P4HB FN3K SLC16A3 CEP131 ACTG1 RAC3 C17orf62 SIRT7 NPLOC4 PPP1R27 FN3KRP ZNF750 SLC38A10 PCYT2 DCXR LOC105376791 HEXDC TBCD WDR45B CD7 STRA13 MIR3186 FOXK2 HGS C17orf89 UTS2R SNORD134 MIR4525 AATK MAFG TSPAN10 SECTM1 LOC105376790 MAFG-AS1 ANAPC11 NARF MRPL12 FASN MYADML2 AATK-AS1 ASPSCR1 FSCN2 ARL16 BAHCC1 B3GNTL1 ALYREF SLC25A10 LOC100130370 GCGR CSNK1D LINC00482 LOC105371925 LOC105371944 DUS1L FAAP100 ARHGDIA LOC101929511 CCDC137
nsv470620	Chr.17:81516973 - 82064485 on Build GRCh38	Loss	PYCR1 STRA13 GPS1 OXLD1 HGS NPB MCRIP1 MIR6786 MAFG TSPAN10 RFNG NOTUM PDE6G MAFG-AS1 LRRC45 P4HB ANAPC11 MRPL12 MYADML2 RAC3 SIRT7 NPLOC4 PPP1R27 ASPSCR1 FSCN2 ARL16 PCYT2 DCXR ALYREF SLC25A10 GCGR DUS1L FAAP100 ARHGDIA CCDC137
nsv952390	Chr.17:81637175 - 81860124 on Build GRCh38	Deletion	OXLD1 PPP1R27 HGS MCRIP1 ARL16 MIR6786 SLC25A10 TSPAN10 GCGR PDE6G P4HB MRPL12 CCDC137

More Information

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

Panther Classification:

Molecular Function -

phosphodiesterase

Gene Ontology Categories:

Process(es)

activation of MAPK activity
Wnt signaling pathway, calcium modulating pathway
visual perception
rhodopsin mediated signaling pathway
regulation of rhodopsin mediated signaling pathway
negative regulation of catalytic activity
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of G-protein coupled receptor protein signaling pathway

Function(s)

enzyme inhibitor activity
protein binding
spectrin binding
cGMP binding
3',5'-cyclic-GMP phosphodiesterase activity