Hs02091816_cn

• Gene Symbol: PTPN18
• Assay Reference Genome Location: Chr.2:130369187 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 26469
• Gene Name: protein tyrosine phosphatase, non-receptor type 18
• Gene Aliases: BDP1, PTP-HSCF
• Location: Chr.2:130356007-130375409 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTPN18	NM_001142370.1			NP_001135842.1
	NM_014369.3			NP_055184.2
	XM_006712416.3			XP_006712479.1
	XM_006712417.1			XP_006712480.1
	XM_017003798.1			XP_016859287.1
	AK303804.1
	BC024280.1			AAH24280.1
	BC041562.1			AAH41562.1
	BC052800.1			AAH52800.1
	BI261717.1
	X79568.1			CAA56105.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998333	Chr.2:130059754 - 130454126 on Build GRCh38	Gain+Loss	IMP4 CCDC115 POTEF PTPN18 NOC2LP1 FAR2P2 MED15P9 CCDC74B MZT2B TUBA3E SMPD4 CYP4F62P
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	IMP4 CCDC115 POTEF PTPN18 NOC2LP1 FAR2P1 MED15P9 CCDC74B MZT2B TUBA3E SMPD4
nsv583133	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18 NOC2LP1 MZT2B TUBA3E SMPD4
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	IMP4 CCDC115 POTEF PTPN18 NOC2LP1 FAR2P1 MED15P9 CCDC74B MZT2B TUBA3E SMPD4
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18 NOC2LP1 MED15P9 CCDC74B MZT2B TUBA3E SMPD4
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	IMP4 CCDC115 PTPN18 NOC2LP1 MED15P9 CCDC74B MZT2B TUBA3E SMPD4
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	IMP4 CFC1 CFC1B FAR2P2 TUBA3E TISP43 LOC107985778 SMPD4 CYP4F62P CCDC115 POTEJ PTPN18 NOC2LP1 MZT2B POTEI LOC646743
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	IMP4 CCDC115 POTEF PTPN18 NOC2LP1 FAR2P1 MED15P9 CCDC74B MZT2B TUBA3E SMPD4
dgv7080n54	Chr.2:130185940 - 130390535 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18 NOC2LP1 MZT2B TUBA3E
nsv459274	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	IMP4 POTEF LOC101927924 FAR2P1 RAB6C-AS1 TUBA3E SMPD4 RAB6C CCDC115 PTPN18 LOC151121 NOC2LP1 LOC101927881 MED15P9 LOC389033 CCDC74B MZT2B
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18 FAR2P2 CYP4F62P
esv3592451	Chr.2:130282861 - 130401532 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
nsv583132	Chr.2:130255764 - 130390535 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
esv2751826	Chr.2:129606158 - 130385563 on Build GRCh38	Gain	IMP4 POTEF LOC101927924 FAR2P1 RAB6C-AS1 TUBA3E SMPD4 RAB6C CCDC115 PTPN18 NOC2LP1 MED15P9 LOC389033 CCDC74B MZT2B
nsv1001073	Chr.2:130290533 - 130400286 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CFC1B LOC101927924 FAR2P1 FAR2P2 POTEKP MZT2A SMPD4 LOC389033 MIR4784 POTEI GPR148 CCDC74A LOC646743 TISP43 LOC107985778 FAM201B ARHGEF4 LOC440910 CYP4F30P NOC2LP2 PTPN18 NOC2LP1 MED15P9 MZT2B FAM168B POTEF C2orf27A C2orf27B TUBA3E RAB6C WTH3DI POTEJ LINC01120 LINC01087 PLEKHB2 ANKRD30BL GPR39 ZNF806 IMP4 CFC1 AMER3 POTEE RAB6C-AS1 LOC100507460 CYP4F62P MIR663B CCDC115 LOC150776 CCDC74B TUBA3D
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	IMP4 POTEF FAR2P2 TUBA3E SMPD4 CYP4F62P CCDC115 PTPN18 NOC2LP1 MED15P9 CCDC74B MZT2B POTEI
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	IMP4 CCDC115 POTEF PTPN18 NOC2LP1 MED15P9 CCDC74B MZT2B TUBA3E SMPD4
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEF CFC1B LOC101927924 FAR2P1 FAR2P2 TUBA3E SMPD4 RAB6C POTEJ LOC389033 POTEI GPR148 LOC646743 IMP4 CFC1 AMER3 RAB6C-AS1 TISP43 LOC107985778 ARHGEF4 CYP4F30P CYP4F62P CCDC115 PTPN18 NOC2LP1 MED15P9 CCDC74B MZT2B

More Information

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

Gene Ontology Categories:

Process(es)

protein dephosphorylation
peptidyl-tyrosine dephosphorylation

Function(s)

non-membrane spanning protein tyrosine phosphatase activity
protein binding