Hs01185375_cn

• Gene Symbol: PTPN18
• Assay Reference Genome Location: Chr.2:130359637 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 4 - Intron 5

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
	DN995571.1
	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	MZT2B FAR2P2 SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 CYP4F62P MED15P9 CCDC74B TUBA3E POTEF
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 MED15P9 FAR2P1 CCDC74B TUBA3E POTEF
nsv583133	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 PTPN18 CCDC115
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 TUBA3E
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 MED15P9 FAR2P1 CCDC74B TUBA3E POTEF
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 MED15P9 CCDC74B TUBA3E
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 MED15P9 CCDC74B TUBA3E
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	CFC1 MZT2B SMPD4 IMP4 POTEI POTEJ PTPN18 LOC646743 TUBA3E TISP43 FAR2P2 NOC2LP1 CFC1B CCDC115 CYP4F62P LOC107985778
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 MED15P9 FAR2P1 CCDC74B TUBA3E POTEF
dgv7080n54	Chr.2:130185940 - 130390535 on Build GRCh38	Gain	MZT2B NOC2LP1 IMP4 PTPN18 CCDC115 TUBA3E
nsv459274	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	MZT2B SMPD4 IMP4 PTPN18 FAR2P1 TUBA3E LOC101927924 RAB6C-AS1 LOC151121 LOC101927881 LOC389033 NOC2LP1 RAB6C CCDC115 MED15P9 CCDC74B POTEF
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	FAR2P2 IMP4 PTPN18 CCDC115 CYP4F62P
esv3592451	Chr.2:130282861 - 130401532 on Build GRCh38	Gain	IMP4 PTPN18 CCDC115
nsv583132	Chr.2:130255764 - 130390535 on Build GRCh38	Gain	IMP4 PTPN18 CCDC115
esv2751826	Chr.2:129606158 - 130385563 on Build GRCh38	Gain	MZT2B SMPD4 IMP4 PTPN18 FAR2P1 TUBA3E LOC101927924 RAB6C-AS1 LOC389033 NOC2LP1 RAB6C CCDC115 MED15P9 CCDC74B POTEF
nsv1001073	Chr.2:130290533 - 130400286 on Build GRCh38	Gain	IMP4 PTPN18 CCDC115
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LINC01120 LOC100507460 ANKRD30BL TUBA3D CFC1B LOC150776 CYP4F62P CCDC74B LOC107985778 POTEF CFC1 IMP4 PLEKHB2 POTEE LOC646743 FAM201B TUBA3E FAM168B LOC389033 POTEKP MIR4784 RAB6C CCDC115 MED15P9 WTH3DI NOC2LP2 CYP4F30P C2orf27A MZT2A SMPD4 POTEI PTPN18 ARHGEF4 FAR2P1 LOC101927924 RAB6C-AS1 LINC01087 FAR2P2 GPR39 C2orf27B MIR663B GPR148 MZT2B LOC440910 POTEJ AMER3 ZNF806 TISP43 CCDC74A NOC2LP1
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	MZT2B SMPD4 IMP4 POTEI PTPN18 TUBA3E FAR2P2 NOC2LP1 CCDC115 CYP4F62P MED15P9 CCDC74B POTEF
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	MZT2B SMPD4 NOC2LP1 IMP4 PTPN18 CCDC115 MED15P9 CCDC74B TUBA3E POTEF
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	SMPD4 POTEI PTPN18 ARHGEF4 FAR2P1 LOC101927924 RAB6C-AS1 FAR2P2 CFC1B CYP4F62P CCDC74B LOC107985778 POTEF GPR148 CFC1 MZT2B IMP4 POTEJ LOC646743 TUBA3E AMER3 TISP43 LOC389033 NOC2LP1 RAB6C CCDC115 MED15P9 CYP4F30P

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