Hs04218367_cn

• Gene Symbol: PTPN18
• Assay Reference Genome Location: Chr.2:130358461 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: Within Intron 1

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

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