Hs04094156_cn

• Gene Symbol: USP18
• Assay Reference Genome Location: Chr.22:18151485 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 11274
• Gene Name: ubiquitin specific peptidase 18
• Gene Aliases: ISG43, UBP43
• Location: Chr.22:18149959-18177397 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USP18	NM_017414.3			NP_059110.2
	XM_006724074.2			XP_006724137.1
	AI222587.1
	AJ243526.1			CAB76398.1
	AK313385.1
	AL136690.1			CAB66625.1
	BC014896.1			AAH14896.1
	BI752849.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055756	Chr.22:18062621 - 18794021 on Build GRCh38	Gain	GGT3P LOC729461 PEX26 TMEM191B PI4KAP1 LOC100996415 RIMBP3 TUBA8 LOC100996401 FAM230A LOC642643 USP18
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	DGCR6 LOC100996415 RIMBP3 LOC100996401 LOC642643 LOC102725072 GGT3P PRODH LOC729461 TMEM191B PI4KAP1 DGCR2 DGCR9 DGCR10 FAM230A USP18 DGCR5 LOC100996432
nsv1058565	Chr.22:18060494 - 18159378 on Build GRCh38	Gain	PEX26 TUBA8 USP18
esv3893430	Chr.22:18059545 - 18169093 on Build GRCh38	Gain	PEX26 TUBA8 USP18
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	DGCR6 LOC100996415 RIMBP3 LOC100996401 LOC642643 LOC102725072 GGT3P PRODH LOC729461 TMEM191B PI4KAP1 DGCR2 DGCR9 DGCR10 FAM230A USP18 DGCR5 LOC100996432
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	ATP6V1E1 LOC100996415 RIMBP3 MIR3198-1 LOC100996401 BID LOC102725072 GGT3P SLC25A18 TMEM191B PI4KAP1 FLJ41941 FAM230A LOC101929372 USP18 LOC100996432 LINC00528 LOC642643 MICAL3 LOC729461 BCL2L13 PEX26 CECR2 TUBA8 MIR648
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	DGCR6 LOC100996415 RIMBP3 LOC100996401 DGCR11 LOC642643 LOC102725072 GGT3P PRODH LOC729461 PEX26 TMEM191B PI4KAP1 DGCR2 TUBA8 DGCR9 DGCR10 FAM230A USP18 DGCR5 LOC100996432
nsv471594	Chr.22:18076012 - 18882129 on Build GRCh38	Gain+Loss	LOC100996415 RIMBP3 LOC100996401 LOC642643 LOC102725072 GGT3P LOC729461 PEX26 TMEM191B PI4KAP1 TUBA8 FAM230A USP18 LOC100996432
nsv469560	Chr.22:18076011 - 18213970 on Build GRCh38	Gain	PEX26 LOC100996415 TUBA8 USP18

More Information

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

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

ubiquitin-dependent protein catabolic process
protein deubiquitination
regulation of type I interferon-mediated signaling pathway

Function(s)

thiol-dependent ubiquitin-specific protease activity
protein binding
ISG15-specific protease activity