Hs04083930_cn

• Gene Symbol: USP18
• Assay Reference Genome Location: Chr.22:18152820 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 TUBA8 FAM230A LOC729461 USP18 TMEM191B LOC100996401 LOC100996415 LOC642643 PI4KAP1 PEX26 RIMBP3
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	USP18 TMEM191B LOC100996432 LOC100996401 PI4KAP1 DGCR10 RIMBP3 GGT3P FAM230A LOC729461 LOC102725072 DGCR9 LOC100996415 LOC642643 DGCR6 DGCR2 PRODH DGCR5
nsv1058565	Chr.22:18060494 - 18159378 on Build GRCh38	Gain	TUBA8 USP18 PEX26
esv3893430	Chr.22:18059545 - 18169093 on Build GRCh38	Gain	TUBA8 USP18 PEX26
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	USP18 TMEM191B LOC100996432 LOC100996401 PI4KAP1 DGCR10 RIMBP3 GGT3P FAM230A LOC729461 LOC102725072 DGCR9 LOC100996415 LOC642643 DGCR6 DGCR2 PRODH DGCR5
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	USP18 LOC100996432 LOC100996401 LINC00528 ATP6V1E1 GGT3P TUBA8 SLC25A18 FLJ41941 LOC102725072 LOC100996415 MIR3198-1 MICAL3 TMEM191B BCL2L13 PI4KAP1 CECR2 MIR648 PEX26 RIMBP3 FAM230A LOC729461 LOC642643 BID LOC101929372
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	USP18 TMEM191B LOC100996432 LOC100996401 PI4KAP1 DGCR10 PEX26 DGCR11 RIMBP3 GGT3P TUBA8 FAM230A LOC729461 LOC102725072 DGCR9 LOC100996415 LOC642643 DGCR6 DGCR2 PRODH DGCR5
nsv471594	Chr.22:18076012 - 18882129 on Build GRCh38	Gain+Loss	USP18 TMEM191B LOC100996432 LOC100996401 PI4KAP1 PEX26 RIMBP3 GGT3P TUBA8 FAM230A LOC729461 LOC102725072 LOC100996415 LOC642643
nsv469560	Chr.22:18076011 - 18213970 on Build GRCh38	Gain	TUBA8 USP18 LOC100996415 PEX26

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