Hs02306390_cn

• Gene Symbol: ITPA
• Assay Reference Genome Location: Chr.20:3213209 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 3704
• Gene Name: inosine triphosphatase
• Gene Aliases: C20orf37, HLC14-06-P, ITPase, My049, NTPase, dJ794I6.3
• Location: Chr.20:3208868-3227449 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITPA	NM_001267623.1			NP_001254552.1
	NM_001324236.1			NP_001311165.1
	NM_001324237.1			NP_001311166.1
	NM_001324238.1			NP_001311167.1
	NM_001324240.1			NP_001311169.1
	NM_033453.3			NP_258412.1
	NM_181493.3			NP_852470.1
	NR_052000.1
	NR_052001.2
	NR_052002.1
	XM_006723564.3			XP_006723627.1
	XM_006723565.3			XP_006723628.1
	XM_011529234.2			XP_011527536.1
	AB062127.1			BAB93459.1
	AF026816.2			AAB82608.2
	AF063607.1			AAG43165.1
	AF219116.1			AAK21848.1
	AF334680.1			AAL57168.1
	AK309165.1
	AV694278.1
	BC010138.2			AAH10138.1
	BE275997.1
	BF969192.1
	BI115811.1
	BM703982.1
	BQ049090.1
	EF199841.1
	EF213026.1
	KU178148.1
	KU178149.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1067207	Chr.20:3191285 - 3404426 on Build GRCh38	Gain	DDRGK1 SLC4A11 C20orf194 ITPA
nsv585276	Chr.20:3030542 - 3366307 on Build GRCh38	Gain	DDRGK1 LZTS3 SLC4A11 C20orf194 ITPA GNRH2 OXT FASTKD5 MRPS26 AVP PTPRA UBOX5-AS1 UBOX5
nsv528355	Chr.20:3190691 - 3242579 on Build GRCh38	Loss	DDRGK1 SLC4A11 ITPA
nsv833898	Chr.20:3147423 - 3309891 on Build GRCh38	Gain+Loss	DDRGK1 LZTS3 SLC4A11 FASTKD5 C20orf194 ITPA UBOX5-AS1 UBOX5

More Information

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

Panther Classification:

Molecular Function -

nucleotide phosphatase

Gene Ontology Categories:

Process(es)

ITP catabolic process
deoxyribonucleoside triphosphate catabolic process
chromosome organization
nucleobase-containing small molecule metabolic process

Function(s)

nucleotide binding
dITP diphosphatase activity
ITP diphosphatase activity
XTP diphosphatase activity
metal ion binding