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

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