Hs00679356_cn

• Gene Symbol: USP18
• Assay Reference Genome Location: Chr.22:18157781 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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USP18	NM_017414.3			NP_059110.2
	XM_006724074.2	2	488	XP_006724137.1
	AF176642.2			AAD49967.1
	AI222587.1
	AJ243526.1			CAB76398.1
	AK313385.1
	AL136690.1			CAB66625.1
	BC014896.1			AAH14896.1
	BI752849.1
	BT006835.1			AAP35481.1
	CR457216.1			CAG33497.1
	CT841507.1			CAJ86437.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC729461 USP18 PI4KAP1 LOC100996415 DGCR11 FAM230A PRODH LOC102725072 DGCR5 DGCR6 GGT3P TMEM191B LOC642643 LOC100996401 DGCR10 LOC100996432 DGCR9 RIMBP3 DGCR2
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC729461 USP18 PI4KAP1 LOC100996415 FAM230A PRODH LOC102725072 DGCR5 DGCR6 GGT3P TMEM191B LOC642643 LOC100996401 DGCR10 LOC100996432 DGCR9 RIMBP3 DGCR2
nsv1055756	Chr.22:18062621 - 18794021 on Build GRCh38	Gain	LOC729461 TMEM191B LOC642643 USP18 LOC100996401 PI4KAP1 LOC100996415 TUBA8 FAM230A PEX26 RIMBP3 GGT3P
nsv1058565	Chr.22:18060494 - 18159378 on Build GRCh38	Gain	USP18 TUBA8 PEX26
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC729461 USP18 PI4KAP1 LOC100996415 FAM230A PRODH LOC102725072 DGCR5 DGCR6 GGT3P TMEM191B LOC642643 LOC100996401 DGCR10 LOC100996432 DGCR9 RIMBP3 DGCR2
esv3893430	Chr.22:18059545 - 18169093 on Build GRCh38	Gain	USP18 TUBA8 PEX26
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	LOC729461 USP18 PI4KAP1 LOC100996415 DGCR11 TUBA8 FAM230A PRODH LOC102725072 DGCR5 DGCR6 GGT3P TMEM191B LOC642643 LOC100996401 DGCR10 LOC100996432 PEX26 DGCR9 RIMBP3 DGCR2
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	LOC729461 USP18 LINC00528 LOC100996415 TUBA8 FAM230A LOC102725072 ATP6V1E1 MICAL3 TMEM191B LOC101929372 LOC100996432 FLJ41941 RIMBP3 SLC25A18 PI4KAP1 MIR648 GGT3P LOC642643 LOC100996401 BCL2L13 BID PEX26 MIR3198-1 CECR2
nsv471594	Chr.22:18076012 - 18882129 on Build GRCh38	Gain+Loss	LOC729461 USP18 PI4KAP1 LOC100996415 TUBA8 FAM230A LOC102725072 GGT3P TMEM191B LOC642643 LOC100996401 LOC100996432 PEX26 RIMBP3
nsv469560	Chr.22:18076011 - 18213970 on Build GRCh38	Gain	USP18 LOC100996415 TUBA8 PEX26

More Information

Additional Information:

For this assay, SNP(s) [rs149306114] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, 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