Hs02098106_cn

• Gene Symbol: ENTPD8
• Assay Reference Genome Location: Chr.9:137434364 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 - Exon 11

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
	BC141810.1

Target Gene Details

• Entrez Gene ID: 10811
• Gene Name: NADPH oxidase activator 1
• Gene Aliases: NY-CO-31, SDCCAG31, p51NOX
• Location: Chr.9:137423372-137434406 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NOXA1	NM_001256067.1			NP_001242996.1
	NM_001256068.1			NP_001242997.1
	NM_006647.1			NP_006638.1
	XM_011518158.2			XP_011516460.1
	XM_011518159.1			XP_011516461.1
	XM_011518160.1			XP_011516462.1
	XM_017014220.1			XP_016869709.1
	AB095031.1			BAC76710.1
	AF039697.1			AAC18046.1
	AI860821.1
	AK098341.1
	AY255769.1			AAP13480.1
	AY927790.1			AAY16126.1
	AY927791.1			AAY16127.1
	BC041594.1			AAH41594.1
	BC110840.1			AAI10841.1

Target Copy Number Variation Details

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

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

More Information

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

Panther Classification:

Molecular Function -

hydrolase, nucleotide phosphatase, phosphatase, metabolite interconversion enzyme, protein-binding activity modulator

Gene Ontology Categories:

Process(es)

nucleoside monophosphate biosynthetic process
nucleoside diphosphate biosynthetic process
superoxide metabolic process
regulation of hydrogen peroxide metabolic process
positive regulation of catalytic activity
regulation of respiratory burst

Function(s)

ATP binding
nucleoside-diphosphatase activity
nucleoside-triphosphatase activity
metal ion binding
protein binding
superoxide-generating NADPH oxidase activator activity
SH3 domain binding
enzyme binding
Rac GTPase binding