Hs01342192_cn

• Gene Symbol: ENTPD8
• Assay Reference Genome Location: Chr.9:137435741 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 377841
• Gene Name: ectonucleoside triphosphate diphosphohydrolase 8
• Gene Aliases: E-NTPDase, GLSR2492, NTPDase-8, UNQ2492
• Location: Chr.9:137434364-137441710 on Build GRCh38
• Assay Gene Location: Overlaps Intron 9 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ENTPD8	NM_001033113.1			NP_001028285.1
	NM_198585.2			NP_940987.2
	XM_011518665.2			XP_011516967.1
	XM_011518666.2			XP_011516968.1
	XM_011518668.1			XP_011516970.1
	AY359088.1			AAQ89446.1
	AY430414.1			AAR04374.1
	AY903953.1			AAW83515.1
	AY903954.1			AAW83516.1
	BC141810.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv616021	Chr.9:137434689 - 137452821 on Build GRCh38	Loss	ENTPD8 NSMF MIR7114
nsv1049808	Chr.9:137356366 - 137438026 on Build GRCh38	Gain	ENTPD8 NOXA1 EXD3
nsv951208	Chr.9:137379349 - 137467948 on Build GRCh38	Deletion	PNPLA7 ENTPD8 NSMF MIR7114 NOXA1 EXD3
nsv524322	Chr.9:136795692 - 137482216 on Build GRCh38	Loss	STPG3 FBXW5 CCDC183-AS1 SSNA1 TMEM203 NOXA1 C9orf172 MAMDC4 EXD3 FUT7 TUBB4B DPP7 FAM166A MIR4479 LOC101930307 CLIC3 RNF224 PRR31 LCNL1 GRIN1 TPRN NPDC1 PNPLA7 PTGDS NRARP MIR3621 TRAF2 MIR4292 ABCA2 NELFB TMEM210 C9orf173-AS1 MAN1B1-AS1 CCDC183 LCN12 NDOR1 C8G PHPT1 TOR4A ENTPD2 UAP1L1 MIR7114 SLC34A3 C9orf142 MAN1B1 SAPCD2 CYSRT1 LRRC26 C9orf139 ANAPC2 EDF1 ENTPD8 NSMF RABL6 RNF208
esv2759721	Chr.9:137303332 - 137447299 on Build GRCh38	Loss	ENTPD8 NOXA1 EXD3
nsv6771	Chr.9:137412670 - 137444666 on Build GRCh38	Insertion	ENTPD8 NOXA1 EXD3
esv3622034	Chr.9:137433077 - 137439026 on Build GRCh38	Gain	ENTPD8 NOXA1
nsv1161918	Chr.9:137118319 - 137438026 on Build GRCh38	Duplication	CYSRT1 STPG3 LRRC26 SSNA1 NRARP TMEM203 NOXA1 NDOR1 EXD3 ANAPC2 TUBB4B MIR3621 FAM166A ENTPD8 TOR4A RNF224 SLC34A3 GRIN1 NELFB TMEM210 RNF208 TPRN C9orf173-AS1

More Information

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

Panther Classification:

Molecular Function -

hydrolase, nucleotide phosphatase, phosphatase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

nucleoside monophosphate biosynthetic process
nucleoside diphosphate biosynthetic process

Function(s)

ATP binding
nucleoside-diphosphatase activity
nucleoside-triphosphatase activity
metal ion binding