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Gene: USP18 (ubiquitin specific peptidase 18) Homo sapiens

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Symbol:

USP18

Name:

ubiquitin specific peptidase 18

RGD ID:

1353279

HGNC Page

HGNC:12616

Description:

Enables ISG15-specific peptidase activity and molecular adaptor activity. Involved in antiviral innate immune response; negative regulation of type I interferon-mediated signaling pathway; and regulation of inflammatory response. Located in cytosol and nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

43 kDa ISG15-specific protease; hUBP43; ISG15-specific-processing protease; ISG43; PTORCH2; ubiquitin specific protease 18; ubl carboxyl-terminal hydrolase 18; ubl thioesterase 18; ubl thiolesterase 18; UBP43

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

USP41P

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	18,150,170 - 18,177,397 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	18,149,843 - 18,177,397 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	18,632,937 - 18,660,164 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	17,012,758 - 17,040,164 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	17,007,311 - 17,034,714	NCBI
Celera	22	2,251,821 - 2,269,866 (+)	NCBI		Celera
Cytogenetic Map	22	q11.21	NCBI
HuRef	22	2,445,183 - 2,472,579 (+)	NCBI		HuRef
CHM1_1	22	18,632,478 - 18,659,884 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	18,822,080 - 18,849,307 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

RGD Manual Disease Annotations Click to see Annotation Detail View

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	Chronic Hepatitis C	treatment	IEP		40400915		RGD

Imported Disease Annotations - ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	DiGeorge syndrome		IAGP	RGD:21404924	8554872	ClinVar Annotator: match by term: DiGeorge syndrome	ClinVar	PMID:32581362
USP18	Human	genetic disease		IAGP	RGD:156057777	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
USP18	Human	genetic disease		IAGP	RGD:155915183\|RGD:155929445\|RGD:155993046\|RGD:156030758\|RGD:156152537\|RGD:156154743\|RGD:156234777\|RGD:401762582\|RGD:401886353\|RGD:405814786\|RGD:405814788\|RGD:405814790\|RGD:405814792\|RGD:405814793\|RGD:407455145\|RGD:407455147\|RGD:407455153\|RGD:407455221\|RGD:407455223\|RGD:597642529\|RGD:597642534\|RGD:597642864\|RGD:597642868\|RGD:597642871\|RGD:597642875\|RGD:597642880\|RGD:597642886	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
USP18	Human	immunodeficiency 51		IAGP	RGD:156437785	8554872	ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5	ClinVar	PMID:24552284\|PMID:24552285\|PMID:26607704\|PMID:27930337\|PMID:28492532
USP18	Human	Neurodevelopmental Disorders		IAGP	RGD:14698286	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
USP18	Human	Polyarteritis Nodosa, Childhood-Onset		IAGP	RGD:156437785	8554872	ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME	ClinVar	PMID:24552284\|PMID:24552285\|PMID:26607704\|PMID:27930337\|PMID:28492532
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP	RGD:12892607	8554872	ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2	ClinVar	PMID:27325888
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP	RGD:329955049\|RGD:597720876	8554872	ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2	ClinVar
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP	RGD:15106441	8554872	ClinVar Annotator: match by term: USP18-related condition	ClinVar	PMID:25741868\|PMID:28492532
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP	RGD:156057777\|RGD:598121825	8554872	ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2	ClinVar	PMID:25741868
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP	RGD:21405320	8554872	ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2	ClinVar	PMID:31940699
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP	RGD:12892638	8554872	ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2	ClinVar	PMID:12833411\|PMID:25741868\|PMID:27325888
USP18	Human	schizophrenia		IAGP	RGD:14351831\|RGD:14351839\|RGD:14351853	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311

Imported Disease Annotations - CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	Acute Lung Injury		EXP		11554173	CTD Direct Evidence: therapeutic	CTD	PMID:33930521
USP18	Human	Aicardi-Goutieres syndrome		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
USP18	Human	leiomyosarcoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:26555296
USP18	Human	Lung Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:27980214

Imported Disease Annotations - OMIM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	Pseudo-TORCH Syndrome 2		IAGP		7240710		OMIM

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	(-)-alpha-phellandrene	increases expression	EXP		6480464	alpha phellandrene results in increased expression of USP18 mRNA	CTD	PMID:25075043
USP18	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	RGD:1551994	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of USP18 mRNA	CTD	PMID:36331819
USP18	Human	1,2-dimethylhydrazine	increases expression	ISO	RGD:1551994	6480464	1,2-Dimethylhydrazine results in increased expression of USP18 mRNA	CTD	PMID:22206623
USP18	Human	1-chloro-2,4-dinitrobenzene	increases expression	ISO	RGD:1551994	6480464	Dinitrochlorobenzene results in increased expression of USP18 mRNA	CTD	PMID:19647056
USP18	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of USP18 mRNA; [Estradiol co-treated with TGFB1 more ...	CTD	PMID:19619570\|PMID:30165855
USP18	Human	17beta-estradiol	increases expression	ISO	RGD:1359153	6480464	Estradiol results in increased expression of USP18 mRNA	CTD	PMID:35192832
USP18	Human	17beta-estradiol	affects expression	ISO	RGD:1551994	6480464	Estradiol affects the expression of USP18 mRNA	CTD	PMID:39298647
USP18	Human	17beta-estradiol	multiple interactions	ISO	RGD:1359153	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of USP18 mRNA	CTD	PMID:32741896
USP18	Human	17beta-estradiol	increases expression	ISO	RGD:1551994	6480464	Estradiol results in increased expression of USP18 mRNA	CTD	PMID:19484750
USP18	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of USP18 mRNA	CTD	PMID:19619570\|PMID:21185374
USP18	Human	17beta-estradiol 3-benzoate	multiple interactions	ISO	RGD:1359153	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of USP18 mRNA	CTD	PMID:32741896
USP18	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	EXP		6480464	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of USP18 mRNA	CTD	PMID:23146750
USP18	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	RGD:1551994	6480464	2,2',4,4'-tetrabromodiphenyl ether affects the expression of USP18 mRNA	CTD	PMID:30294300
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	EXP		6480464	[Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of USP18 mRNA	CTD	PMID:19619570
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1359153	6480464	Tetrachlorodibenzodioxin results in increased expression of USP18 mRNA	CTD	PMID:33387578
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1359153	6480464	Tetrachlorodibenzodioxin results in decreased expression of USP18 mRNA	CTD	PMID:34747641
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1551994	6480464	Tetrachlorodibenzodioxin affects the expression of USP18 mRNA	CTD	PMID:21570461\|PMID:26377647
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:1551994	6480464	Tetrachlorodibenzodioxin results in increased expression of USP18 mRNA	CTD	PMID:21889950\|PMID:26290441
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1551994	6480464	Tetrachlorodibenzodioxin results in decreased expression of USP18 mRNA	CTD	PMID:19770486
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of USP18 mRNA	CTD	PMID:19619570
USP18	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1551994	6480464	[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of USP18 mRNA	CTD	PMID:16214954
USP18	Human	2,4-dinitrotoluene	affects expression	ISO	RGD:1359153	6480464	2,4-dinitrotoluene affects the expression of USP18 mRNA	CTD	PMID:21346803
USP18	Human	2-hydroxypropanoic acid	increases expression	EXP		6480464	Lactic Acid results in increased expression of USP18 mRNA	CTD	PMID:30851411
USP18	Human	3,3',4,4',5-pentachlorobiphenyl	decreases expression	ISO	RGD:1359153	6480464	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of USP18 mRNA	CTD	PMID:32119087
USP18	Human	3,3',5,5'-tetrabromobisphenol A	increases expression	ISO	RGD:1359153	6480464	tetrabromobisphenol A results in increased expression of USP18 mRNA	CTD	PMID:27914987
USP18	Human	3,4-methylenedioxymethamphetamine	decreases expression	ISO	RGD:1551994	6480464	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of USP18 mRNA	CTD	PMID:20188158
USP18	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
USP18	Human	3-methylcholanthrene	decreases expression	ISO	RGD:1551994	6480464	Methylcholanthrene results in decreased expression of USP18 mRNA	CTD	PMID:20713471
USP18	Human	3-methylcholanthrene	increases expression	ISO	RGD:1551994	6480464	Methylcholanthrene results in increased expression of USP18 mRNA	CTD	PMID:29554273
USP18	Human	4,4'-diaminodiphenylmethane	affects expression	ISO	RGD:1551994	6480464	4,4'-diaminodiphenylmethane affects the expression of USP18 mRNA	CTD	PMID:18648102
USP18	Human	4,4'-sulfonyldiphenol	increases methylation	ISO	RGD:1551994	6480464	bisphenol S results in increased methylation of USP18 exon	CTD	PMID:33297965
USP18	Human	4,4'-sulfonyldiphenol	affects expression	ISO	RGD:1551994	6480464	bisphenol S affects the expression of USP18 mRNA	CTD	PMID:39298647
USP18	Human	4-(ethoxymethylene)-2-phenyloxazol-5-one	increases expression	ISO	RGD:1551994	6480464	Oxazolone results in increased expression of USP18 mRNA	CTD	PMID:19647056
USP18	Human	4-hydroxynon-2-enal	decreases expression	ISO	RGD:1551994	6480464	4-hydroxy-2-nonenal results in decreased expression of USP18 mRNA	CTD	PMID:19191707
USP18	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:1359153	6480464	Propylthiouracil results in increased expression of USP18 mRNA	CTD	PMID:24780913
USP18	Human	acetamide	increases expression	ISO	RGD:1359153	6480464	acetamide results in increased expression of USP18 mRNA	CTD	PMID:31881176
USP18	Human	Actein	increases expression	ISO	RGD:1359153	6480464	actein results in increased expression of USP18 protein	CTD	PMID:29969672
USP18	Human	all-trans-retinoic acid	increases expression	ISO	RGD:1551994	6480464	Tretinoin results in increased expression of USP18 mRNA	CTD	PMID:20935222
USP18	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of USP18 mRNA	CTD	PMID:16249480\|PMID:23724009
USP18	Human	all-trans-retinoic acid	decreases response to substance	ISO	RGD:1551994	6480464	USP18 protein results in decreased susceptibility to Tretinoin	CTD	PMID:22752428
USP18	Human	all-trans-retinoic acid	affects response to substance	EXP		6480464	USP18 protein affects the susceptibility to Tretinoin	CTD	PMID:20935222
USP18	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of USP18 mRNA; Tretinoin results in increased expression of USP18 more ...	CTD	PMID:20935222\|PMID:33167477
USP18	Human	alpha-phellandrene	increases expression	EXP		6480464	alpha phellandrene results in increased expression of USP18 mRNA	CTD	PMID:25075043
USP18	Human	aluminium atom	decreases expression	ISO	RGD:1551994	6480464	Aluminum results in decreased expression of USP18 mRNA	CTD	PMID:37544489
USP18	Human	aluminium(0)	decreases expression	ISO	RGD:1551994	6480464	Aluminum results in decreased expression of USP18 mRNA	CTD	PMID:37544489
USP18	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] which co-treated with Benzo(a)pyrene] results in increased more ...	CTD	PMID:32802178
USP18	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] which co-treated with Benzo(a)pyrene] results in increased more ...	CTD	PMID:32802178
USP18	Human	benzene	increases expression	EXP		6480464	Benzene results in increased expression of USP18 mRNA	CTD	PMID:20359517
USP18	Human	benzo[a]pyrene	decreases expression	ISO	RGD:1551994	6480464	Benzo(a)pyrene results in decreased expression of USP18 mRNA	CTD	PMID:20713471
USP18	Human	benzo[a]pyrene	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] which co-treated with Benzo(a)pyrene] results in increased more ...	CTD	PMID:32802178
USP18	Human	benzo[a]pyrene	increases expression	ISO	RGD:1551994	6480464	Benzo(a)pyrene results in increased expression of USP18 mRNA	CTD	PMID:23735875
USP18	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	RGD:1551994	6480464	Diethylhexyl Phthalate results in increased expression of USP18 mRNA	CTD	PMID:27405655
USP18	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	RGD:1551994	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
USP18	Human	bis(2-ethylhexyl) phthalate	increases expression	EXP		6480464	Diethylhexyl Phthalate results in increased expression of USP18 mRNA	CTD	PMID:31163220
USP18	Human	bisphenol A	increases expression	ISO	RGD:1359153	6480464	bisphenol A results in increased expression of USP18 mRNA	CTD	PMID:25181051\|PMID:35192832
USP18	Human	bisphenol A	affects expression	ISO	RGD:1359153	6480464	bisphenol A affects the expression of USP18 mRNA	CTD	PMID:32145629
USP18	Human	bisphenol A	decreases expression	ISO	RGD:1359153	6480464	bisphenol A results in decreased expression of USP18 mRNA	CTD	PMID:30816183\|PMID:32528016
USP18	Human	bisphenol A	affects methylation	ISO	RGD:1359153	6480464	bisphenol A affects the methylation of USP18 promoter	CTD	PMID:27415467
USP18	Human	bisphenol A	decreases methylation	ISO	RGD:1551994	6480464	bisphenol A results in decreased methylation of USP18 promoter	CTD	PMID:27312807
USP18	Human	bisphenol A	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
USP18	Human	Butylbenzyl phthalate	multiple interactions	ISO	RGD:1551994	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
USP18	Human	cadmium atom	multiple interactions	ISO	RGD:1551994	6480464	[Tetradecanoylphorbol Acetate co-treated with [Cadmium Chloride results in increased abundance of Cadmium]] affects the expression more ...	CTD	PMID:31904401
USP18	Human	cadmium dichloride	increases methylation	ISO	RGD:1359153	6480464	Cadmium Chloride results in increased methylation of USP18 promoter	CTD	PMID:22457795
USP18	Human	cadmium dichloride	multiple interactions	ISO	RGD:1551994	6480464	[Tetradecanoylphorbol Acetate co-treated with [Cadmium Chloride results in increased abundance of Cadmium]] affects the expression more ...	CTD	PMID:31904401
USP18	Human	cadmium dichloride	increases expression	ISO	RGD:1359153	6480464	Cadmium Chloride results in increased expression of USP18 mRNA	CTD	PMID:25993096
USP18	Human	carbon nanotube	decreases expression	ISO	RGD:1551994	6480464	Nanotubes, Carbon analog results in decreased expression of USP18 mRNA; Nanotubes, Carbon results in decreased more ...	CTD	PMID:25620056
USP18	Human	carbon nanotube	increases expression	ISO	RGD:1551994	6480464	Nanotubes, Carbon analog results in increased expression of USP18 mRNA; Nanotubes, Carbon results in increased more ...	CTD	PMID:25554681
USP18	Human	chlordecone	decreases expression	ISO	RGD:1551994	6480464	Chlordecone results in decreased expression of USP18 mRNA	CTD	PMID:33711761
USP18	Human	chloroprene	decreases expression	ISO	RGD:1359153	6480464	Chloroprene results in decreased expression of USP18 mRNA	CTD	PMID:23125180
USP18	Human	chromium(6+)	affects expression	ISO	RGD:1551994	6480464	chromium hexavalent ion affects the expression of USP18 mRNA	CTD	PMID:28472532
USP18	Human	cisplatin	decreases response to substance	ISO	RGD:1551994	6480464	USP18 protein results in decreased susceptibility to Cisplatin	CTD	PMID:22752428
USP18	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of USP18 mRNA	CTD	PMID:27392435
USP18	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of USP18 mRNA	CTD	PMID:27392435
USP18	Human	clofibrate	multiple interactions	ISO	RGD:1551994	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of USP18 mRNA; PPARA affects the reaction [[Clofibrate more ...	CTD	PMID:17585979
USP18	Human	clofibrate	decreases expression	ISO	RGD:1551994	6480464	Clofibrate results in decreased expression of USP18 mRNA	CTD	PMID:23811191
USP18	Human	clofibric acid	multiple interactions	ISO	RGD:1359153	6480464	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of USP18 mRNA	CTD	PMID:17602206
USP18	Human	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of USP18 mRNA	CTD	PMID:19320972
USP18	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of USP18 mRNA	CTD	PMID:19549813
USP18	Human	Cuprizon	increases expression	ISO	RGD:1359153	6480464	Cuprizone results in increased expression of USP18 mRNA	CTD	PMID:27523638
USP18	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of USP18 mRNA	CTD	PMID:22147139
USP18	Human	DDE	increases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in increased expression of USP18 mRNA	CTD	PMID:38568856
USP18	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
USP18	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of USP18 mRNA	CTD	PMID:37042841
USP18	Human	dibutyl phthalate	multiple interactions	ISO	RGD:1551994	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
USP18	Human	dichloromethane	increases expression	EXP		6480464	Methylene Chloride results in increased expression of USP18 mRNA	CTD	PMID:20359517
USP18	Human	dieldrin	decreases expression	ISO	RGD:1359153	6480464	Dieldrin results in decreased expression of USP18 mRNA	CTD	PMID:34051100
USP18	Human	diethyl maleate	decreases expression	ISO	RGD:1359153	6480464	diethyl maleate results in decreased expression of USP18 mRNA	CTD	PMID:21161181
USP18	Human	diethyl phthalate	multiple interactions	ISO	RGD:1551994	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
USP18	Human	diethylstilbestrol	decreases expression	ISO	RGD:1359153	6480464	Diethylstilbestrol results in decreased expression of USP18 mRNA	CTD	PMID:21658437
USP18	Human	diisobutyl phthalate	multiple interactions	ISO	RGD:1551994	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
USP18	Human	diisononyl phthalate	multiple interactions	ISO	RGD:1551994	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
USP18	Human	dioxygen	multiple interactions	ISO	RGD:1359153	6480464	[dan-shen root extract co-treated with Andrographis paniculata extract] inhibits the reaction [[Oxygen deficiency co-treated with more ...	CTD	PMID:33729688
USP18	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
USP18	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of USP18 mRNA	CTD	PMID:29803840
USP18	Human	ethylbenzene	increases expression	EXP		6480464	ethylbenzene results in increased expression of USP18 mRNA	CTD	PMID:20359517
USP18	Human	flutamide	increases expression	ISO	RGD:1359153	6480464	Flutamide results in increased expression of USP18 mRNA	CTD	PMID:24136188
USP18	Human	folic acid	increases expression	ISO	RGD:1551994	6480464	Folic Acid results in increased expression of USP18 mRNA	CTD	PMID:25629700
USP18	Human	fumonisin B1	increases expression	ISO	RGD:1551994	6480464	fumonisin B1 results in increased expression of USP18 mRNA	CTD	PMID:16221962
USP18	Human	Genipin	multiple interactions	ISO	RGD:1551994	6480464	genipin inhibits the reaction [Lipopolysaccharides results in increased expression of USP18 mRNA]	CTD	PMID:22687549
USP18	Human	gentamycin	increases expression	ISO	RGD:1359153	6480464	Gentamicins results in increased expression of USP18 mRNA	CTD	PMID:33387578
USP18	Human	GW 4064	decreases expression	ISO	RGD:1551994	6480464	GW 4064 results in decreased expression of USP18 mRNA	CTD	PMID:26655953
USP18	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
USP18	Human	inulin	multiple interactions	ISO	RGD:1551994	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of USP18 mRNA	CTD	PMID:36331819
USP18	Human	iohexol	decreases expression	EXP		6480464	Iohexol results in decreased expression of USP18 mRNA	CTD	PMID:29705293
USP18	Human	iopamidol	decreases expression	EXP		6480464	Iopamidol results in decreased expression of USP18 mRNA	CTD	PMID:29705293
USP18	Human	lead diacetate	decreases expression	ISO	RGD:1359153	6480464	lead acetate results in decreased expression of USP18 mRNA	CTD	PMID:22641619
USP18	Human	lidocaine	increases expression	ISO	RGD:1359153	6480464	Lidocaine results in increased expression of USP18 mRNA	CTD	PMID:35283115
USP18	Human	lipopolysaccharide	multiple interactions	ISO	RGD:1551994	6480464	(+)-JQ1 compound inhibits the reaction [Lipopolysaccharides results in increased expression of USP18 mRNA]; genipin inhibits more ...	CTD	PMID:22687549\|PMID:25890327
USP18	Human	lipopolysaccharide	multiple interactions	EXP		6480464	monophosphoryl lipid A inhibits the reaction [USP18 protein inhibits the reaction [Lipopolysaccharides results in decreased more ...	CTD	PMID:33930521\|PMID:35811015
USP18	Human	lipopolysaccharide	increases expression	EXP		6480464	Lipopolysaccharides results in increased expression of USP18 mRNA; Lipopolysaccharides results in increased expression of USP18 more ...	CTD	PMID:33930521\|PMID:35811015
USP18	Human	lipopolysaccharide	increases expression	ISO	RGD:1551994	6480464	Lipopolysaccharides results in increased expression of USP18 mRNA; Lipopolysaccharides results in increased expression of USP18 more ...	CTD	PMID:22687549\|PMID:25890327\|PMID:27339419\|PMID:33930521
USP18	Human	manganese atom	increases expression	ISO	RGD:1551994	6480464	Manganese results in increased expression of USP18 mRNA	CTD	PMID:23499988
USP18	Human	manganese(0)	increases expression	ISO	RGD:1551994	6480464	Manganese results in increased expression of USP18 mRNA	CTD	PMID:23499988
USP18	Human	manganese(II) chloride	increases expression	ISO	RGD:1359153	6480464	manganese chloride results in increased expression of USP18 mRNA	CTD	PMID:28801915
USP18	Human	methapyrilene	decreases expression	ISO	RGD:1359153	6480464	Methapyrilene results in decreased expression of USP18 mRNA	CTD	PMID:30467583
USP18	Human	methotrexate	affects expression	ISO	RGD:1551994	6480464	Methotrexate affects the expression of USP18 mRNA	CTD	PMID:18502557
USP18	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of USP18 mRNA	CTD	PMID:28001369
USP18	Human	N-methyl-4-phenylpyridinium	increases expression	ISO	RGD:1359153	6480464	1-Methyl-4-phenylpyridinium results in increased expression of USP18 mRNA	CTD	PMID:28801915
USP18	Human	N-nitrosodiethylamine	multiple interactions	ISO	RGD:1359153	6480464	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of USP18 mRNA	CTD	PMID:17602206
USP18	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of USP18 mRNA	CTD	PMID:24768652
USP18	Human	nickel sulfate	increases expression	EXP		6480464	nickel sulfate results in increased expression of USP18 mRNA	CTD	PMID:22714537
USP18	Human	o-xylene	increases expression	EXP		6480464	2-xylene results in increased expression of USP18 mRNA	CTD	PMID:20359517
USP18	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of USP18 mRNA	CTD	PMID:38832940
USP18	Human	orphenadrine	affects expression	ISO	RGD:1359153	6480464	Orphenadrine affects the expression of USP18 mRNA	CTD	PMID:23665939
USP18	Human	oxaliplatin	multiple interactions	ISO	RGD:1359153	6480464	[oxaliplatin co-treated with Topotecan] results in increased expression of USP18 mRNA	CTD	PMID:25729387
USP18	Human	paracetamol	multiple interactions	ISO	RGD:1551994	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of USP18 mRNA; PPARA affects the reaction [[Clofibrate more ...	CTD	PMID:17585979
USP18	Human	paracetamol	increases expression	ISO	RGD:1359153	6480464	Acetaminophen results in increased expression of USP18 mRNA	CTD	PMID:33387578
USP18	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of USP18 mRNA	CTD	PMID:29067470
USP18	Human	paraquat	decreases expression	ISO	RGD:1359153	6480464	Paraquat results in decreased expression of USP18 mRNA	CTD	PMID:32680482
USP18	Human	pentachlorophenol	increases expression	ISO	RGD:1551994	6480464	Pentachlorophenol results in increased expression of USP18 mRNA	CTD	PMID:23892564
USP18	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	RGD:1551994	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of USP18 mRNA; [perfluorooctane sulfonic more ...	CTD	PMID:36331819
USP18	Human	perfluorooctanoic acid	decreases expression	EXP		6480464	perfluorooctanoic acid results in decreased expression of USP18 mRNA	CTD	PMID:37738295
USP18	Human	phenformin	increases expression	ISO	RGD:1359153	6480464	Phenformin results in increased expression of USP18 mRNA	CTD	PMID:31324951
USP18	Human	phenobarbital	multiple interactions	ISO	RGD:1551994	6480464	NR1I3 protein affects the reaction [Phenobarbital results in increased expression of USP18 mRNA]	CTD	PMID:19482888
USP18	Human	phenobarbital	increases expression	ISO	RGD:1551994	6480464	Phenobarbital results in increased expression of USP18 mRNA	CTD	PMID:19482888
USP18	Human	phorbol 13-acetate 12-myristate	multiple interactions	ISO	RGD:1551994	6480464	[Tetradecanoylphorbol Acetate co-treated with [Cadmium Chloride results in increased abundance of Cadmium]] affects the expression more ...	CTD	PMID:31904401
USP18	Human	pregnenolone 16alpha-carbonitrile	decreases expression	ISO	RGD:1551994	6480464	Pregnenolone Carbonitrile results in decreased expression of USP18 mRNA	CTD	PMID:28903501
USP18	Human	propiconazole	increases expression	ISO	RGD:1551994	6480464	propiconazole results in increased expression of USP18 mRNA	CTD	PMID:21278054
USP18	Human	rac-lactic acid	increases expression	EXP		6480464	Lactic Acid results in increased expression of USP18 mRNA	CTD	PMID:30851411
USP18	Human	resveratrol	multiple interactions	ISO	RGD:1551994	6480464	resveratrol inhibits the reaction [Dietary Fats affects the expression of USP18 mRNA]	CTD	PMID:17086191
USP18	Human	rotenone	decreases expression	ISO	RGD:1359153	6480464	Rotenone results in decreased expression of USP18 mRNA	CTD	PMID:28374803
USP18	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	S-(1,2-dichlorovinyl)cysteine inhibits the reaction [Lipopolysaccharides results in increased expression of USP18 mRNA]	CTD	PMID:35811015
USP18	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
USP18	Human	silver atom	affects expression	ISO	RGD:1551994	6480464	Silver affects the expression of USP18 mRNA	CTD	PMID:27131904
USP18	Human	silver(0)	affects expression	ISO	RGD:1551994	6480464	Silver affects the expression of USP18 mRNA	CTD	PMID:27131904
USP18	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] which co-treated with Benzo(a)pyrene] results in increased more ...	CTD	PMID:32802178
USP18	Human	Soman	increases expression	ISO	RGD:1359153	6480464	Soman results in increased expression of USP18 mRNA	CTD	PMID:19281266
USP18	Human	succimer	multiple interactions	ISO	RGD:1551994	6480464	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of USP18 mRNA	CTD	PMID:21641980
USP18	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of USP18 mRNA	CTD	PMID:31533062
USP18	Human	tamoxifen	affects expression	ISO	RGD:1551994	6480464	Tamoxifen affects the expression of USP18 mRNA	CTD	PMID:20937368
USP18	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of USP18 mRNA	CTD	PMID:31758290
USP18	Human	tenofovir disoproxil fumarate	increases expression	ISO	RGD:1359153	6480464	Tenofovir results in increased expression of USP18 mRNA	CTD	PMID:37852574
USP18	Human	tert-butyl hydroperoxide	increases expression	ISO	RGD:1551994	6480464	tert-Butylhydroperoxide results in increased expression of USP18 mRNA	CTD	PMID:15003993
USP18	Human	testosterone	multiple interactions	ISO	RGD:1359153	6480464	[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of USP18 mRNA	CTD	PMID:32741896
USP18	Human	tetraphene	decreases expression	ISO	RGD:1551994	6480464	benz(a)anthracene results in decreased expression of USP18 mRNA	CTD	PMID:26377693
USP18	Human	thioacetamide	decreases expression	ISO	RGD:1359153	6480464	Thioacetamide results in decreased expression of USP18 mRNA	CTD	PMID:23411599
USP18	Human	thioacetamide	increases expression	ISO	RGD:1359153	6480464	Thioacetamide results in increased expression of USP18 mRNA	CTD	PMID:34492290
USP18	Human	titanium dioxide	increases expression	ISO	RGD:1551994	6480464	titanium dioxide results in increased expression of USP18 mRNA	CTD	PMID:23557971\|PMID:27760801
USP18	Human	titanium dioxide	decreases methylation	ISO	RGD:1551994	6480464	titanium dioxide results in decreased methylation of USP18 gene	CTD	PMID:35295148
USP18	Human	tofacitinib	decreases expression	EXP		6480464	tofacitinib results in decreased expression of USP18 mRNA	CTD	PMID:25487280
USP18	Human	toluene	increases expression	EXP		6480464	Toluene results in increased expression of USP18 mRNA	CTD	PMID:20359517\|PMID:28245982
USP18	Human	toluene 2,4-diisocyanate	increases expression	ISO	RGD:1551994	6480464	Toluene 2,4-Diisocyanate results in increased expression of USP18 mRNA	CTD	PMID:19647056
USP18	Human	topotecan	increases expression	ISO	RGD:1359153	6480464	Topotecan results in increased expression of USP18 mRNA	CTD	PMID:25729387
USP18	Human	topotecan	multiple interactions	ISO	RGD:1359153	6480464	[oxaliplatin co-treated with Topotecan] results in increased expression of USP18 mRNA	CTD	PMID:25729387
USP18	Human	trichloroethene	increases expression	EXP		6480464	Trichloroethylene results in increased expression of USP18 mRNA	CTD	PMID:20359517
USP18	Human	trichloroethene	increases expression	ISO	RGD:1359153	6480464	Trichloroethylene results in increased expression of USP18 mRNA	CTD	PMID:33387578
USP18	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of USP18 mRNA	CTD	PMID:37042841
USP18	Human	trovafloxacin	increases expression	ISO	RGD:1551994	6480464	trovafloxacin results in increased expression of USP18 mRNA	CTD	PMID:35537566
USP18	Human	tungsten	increases expression	ISO	RGD:1551994	6480464	Tungsten results in increased expression of USP18 mRNA	CTD	PMID:30912803
USP18	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of USP18 mRNA	CTD	PMID:38498338
USP18	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of USP18 mRNA	CTD	PMID:28818685
USP18	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased more ...	CTD	PMID:27188386
USP18	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of USP18 mRNA	CTD	PMID:28001369
USP18	Human	zidovudine	multiple interactions	EXP		6480464	[Zidovudine co-treated with IFNA1 protein] results in increased expression of USP18 mRNA	CTD	PMID:20370541
USP18	Human	zinc atom	increases expression	EXP		6480464	Zinc deficiency results in increased expression of USP18 mRNA	CTD	PMID:18356318
USP18	Human	zinc(0)	increases expression	EXP		6480464	Zinc deficiency results in increased expression of USP18 mRNA	CTD	PMID:18356318

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	antiviral innate immune response	involved_in	IDA		150520179	PMID:27801882	UniProt	PMID:27801882
USP18	Human	negative regulation of type I interferon-mediated signaling pathway	involved_in	IDA		150520179	PMID:28165510	UniProt	PMID:28165510
USP18	Human	protein deubiquitination	involved_in	IEA	InterPro:IPR001394	150520179		InterPro	GO_REF:0000002
USP18	Human	protein deubiquitination	involved_in	TAS		150520179		Reactome	Reactome:R-HSA-5688426
USP18	Human	proteolysis	involved_in	IEA	UniProtKB-KW:KW-0645	150520179		UniProt	GO_REF:0000043
USP18	Human	regulation of inflammatory response	involved_in	IMP		150520179	PMID:27325888	UniProt	PMID:27325888
USP18	Human	regulation of protein stability	involved_in	IBA	FB:FBgn0016756\|FB:FBgn0039214\|MGI:1888998\|MGI:1919594\|MGI:2182061\|PANTHER:PTN002541993\|RGD:1306915\|UniProtKB:Q92995\|UniProtKB:Q93008\|UniProtKB:Q93009\|UniProtKB:Q96RU2\|UniProtKB:Q9P275	150520179		GO_Central	GO_REF:0000033
USP18	Human	response to bacterium	acts_upstream_of_or_within	IEA	UniProtKB:Q9WTV6\|ensembl:ENSMUSP00000032198	150520179		Ensembl	GO_REF:0000107
USP18	Human	response to stilbenoid	involved_in	IEA	UniProtKB:Q9WTV6\|ensembl:ENSMUSP00000032198	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
USP18	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
USP18	Human	cytoplasm	is_active_in	IC		150520179	PMID:27801882	UniProt	PMID:27801882
USP18	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
USP18	Human	cytosol	is_active_in	IBA	FB:FBgn0016756\|FB:FBgn0030366\|PANTHER:PTN002541993\|SGD:S000004920\|TAIR:locus:505006491\|UniProtKB:Q14694\|UniProtKB:Q86UV5\|UniProtKB:Q93008\|UniProtKB:Q93009\|UniProtKB:Q9BXU7\|UniProtKB:Q9UHP3\|UniProtKB:Q9UMW8	150520179		GO_Central	GO_REF:0000033
USP18	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1678841\|Reactome:R-HSA-5696534\|Reactome:R-HSA-912685\|Reactome:R-HSA-9761344
USP18	Human	nucleus	is_active_in	IBA	FB:FBgn0016756\|FB:FBgn0030366\|FB:FBgn0039214\|FB:FBgn0260936\|MGI:2182061\|PANTHER:PTN002541993\|PomBase:SPBC713.02c\|PomBase:SPCC1682.12c\|SGD:S000005130\|TAIR:locus:2020412\|TAIR:locus:2060395\|TAIR:locus:2081501\|TAIR:locus:2090985\|TAIR:locus:2140074\|TAIR:locus:2144118\|TAIR:locus:2174403\|UniProtKB:O75317\|UniProtKB:O94782\|UniProtKB:Q0WX57\|UniProtKB:Q14694\|UniProtKB:Q582C5\|UniProtKB:Q6QN14\|UniProtKB:Q6R6M4\|UniProtKB:Q86T82\|UniProtKB:Q86UV5\|UniProtKB:Q93009\|UniProtKB:Q96K76\|UniProtKB:Q96RU2\|UniProtKB:Q9BXU7\|UniProtKB:Q9P275\|UniProtKB:Q9UMW8\|WB:WBGene00010406	150520179		GO_Central	GO_REF:0000033
USP18	Human	nucleus	located_in	IDA		150520179		LIFEdb	GO_REF:0000054
USP18	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
USP18	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
USP18	Human	nucleus	located_in	TAS		150520179	PMID:10777664	PINC	PMID:10777664

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	cysteine-type deubiquitinase activity	enables	IBA	FB:FBgn0005632\|FB:FBgn0016756\|FB:FBgn0030366\|FB:FBgn0033738\|FB:FBgn0260936\|MGI:107697\|MGI:107698\|MGI:107699\|MGI:1924050\|MGI:2140991\|MGI:2182061\|MGI:3051372\|MGI:3051498\|MGI:894681\|PANTHER:PTN002541993\|PomBase:SPAC13A11.04c\|PomBase:SPBP8B7.21\|RGD:1306915\|SGD:S000000163\|SGD:S000000262\|SGD:S000000953\|SGD:S000001418\|SGD:S000002280\|SGD:S000004920\|SGD:S000005130\|SGD:S000005650\|TAIR:locus:2010622\|TAIR:locus:2020412\|TAIR:locus:2060395\|TAIR:locus:2081501\|TAIR:locus:2121959\|TAIR:locus:2122447\|TAIR:locus:2140074\|TAIR:locus:2144118\|UniProtKB:O00507\|UniProtKB:O75317\|UniProtKB:O94782\|UniProtKB:P62068\|UniProtKB:Q0WX57\|UniProtKB:Q14694\|UniProtKB:Q6R6M4\|UniProtKB:Q70CQ2\|UniProtKB:Q70CQ3\|UniProtKB:Q86T82\|UniProtKB:Q8NB14\|UniProtKB:Q92995\|UniProtKB:Q93008\|UniProtKB:Q93009\|UniProtKB:Q96K76\|UniProtKB:Q96RU2\|UniProtKB:Q96V54\|UniProtKB:Q9H9J4\|UniProtKB:Q9P275\|UniProtKB:Q9P2H5\|UniProtKB:Q9UHP3\|WB:WBGene00010406\|WB:WBGene00011216\|ZFIN:ZDB-GENE-060526-335\|dictyBase:DDB_G0291239	150520179		GO_Central	GO_REF:0000033
USP18	Human	cysteine-type deubiquitinase activity	enables	IEA	InterPro:IPR001394\|InterPro:IPR018200	150520179		InterPro	GO_REF:0000002
USP18	Human	cysteine-type deubiquitinase activity	enables	TAS		150520179	PMID:10777664	Reactome	PMID:10777664\|Reactome:R-HSA-5696534
USP18	Human	cysteine-type peptidase activity	enables	IEA	UniProtKB-KW:KW-0788	150520179		UniProt	GO_REF:0000043
USP18	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
USP18	Human	ISG15-specific peptidase activity	enables	IEA	UniProtKB:Q9WTV6\|ensembl:ENSMUSP00000032198	150520179		Ensembl	GO_REF:0000107
USP18	Human	ISG15-specific peptidase activity	enables	EXP		150520179	PMID:11788588	Reactome	PMID:11788588
USP18	Human	molecular adaptor activity	enables	IDA		150520179	PMID:27801882	UniProt	PMID:27801882
USP18	Human	peptidase activity	enables	IEA	UniProtKB-KW:KW-0645	150520179		UniProt	GO_REF:0000043
USP18	Human	protein binding	enables	IPI	UniProtKB:P42858	150520179	PMID:32814053	IntAct	PMID:32814053
USP18	Human	protein binding	enables	IPI	UniProtKB:P52630	150520179	PMID:31836668, PMID:32092142	UniProt	PMID:31836668\|PMID:32092142
USP18	Human	protein binding	enables	IPI	UniProtKB:P48551	150520179	PMID:16710296	IntAct	PMID:16710296
USP18	Human	protein binding	enables	IPI	UniProtKB:P05161	150520179	PMID:16189514, PMID:25307056, PMID:25416956, PMID:31515488, PMID:32296183	IntAct	PMID:16189514\|PMID:25307056\|PMID:25416956\|PMID:31515488\|PMID:32296183
USP18	Human	protein binding	enables	IPI	UniProtKB:P48551\|UniProtKB:P52630	150520179	PMID:28165510	UniProt	PMID:28165510

Phenotype Annotations Click to see Annotation Detail View

Imported Human Phenotype Annotations - HPO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	Abnormal renal corticomedullary differentiation		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Acute respiratory distress syndrome		IAGP		8699517		HPO	MIM:617397\|PMID:31940699
USP18	Human	Ascites		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Bradycardia		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Cerebellar hypoplasia		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Cerebral calcification		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Cerebral hemorrhage		IAGP		8699517		HPO	MIM:617397\|PMID:27325888\|PMID:31940699
USP18	Human	Elevated circulating hepatic transaminase concentration		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Fetal distress		IAGP		8699517		HPO	MIM:617397\|PMID:31940699
USP18	Human	Fetal onset		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Generalized hypotonia		IAGP		8699517		HPO	MIM:617397
USP18	Human	Gray matter heterotopia		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Hepatomegaly		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Lactic acidosis		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Lateral ventricle dilatation		IAGP		8699517		HPO	MIM:617397\|PMID:31940699
USP18	Human	Lethargy		IAGP		8699517		HPO	MIM:617397
USP18	Human	Microcephaly		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Neonatal onset		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Patent ductus arteriosus		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Petechiae		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Pleural effusion		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Polymicrogyria		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Respiratory insufficiency		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Secundum atrial septal defect		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Seizure		IAGP		8699517		HPO	MIM:617397\|PMID:27325888\|PMID:31940699
USP18	Human	Thin ribs		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Thrombocytopenia		IAGP		8699517		HPO	MIM:617397\|PMID:27325888
USP18	Human	Ventriculomegaly		IAGP		8699517		HPO	MIM:617397\|PMID:27325888

Imported Human Phenotype Annotations - ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
USP18	Human	Schizophrenia		IAGP	RGD:14351839	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311
USP18	Human	Schizophrenia		IAGP	RGD:14351853	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311
USP18	Human	Schizophrenia		IAGP	RGD:14351831	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106\|PMID:30208311

Disease Annotations Click to see Annotation Detail View

Acute Lung Injury (EXP)

Aicardi-Goutieres syndrome (EXP)

Chronic Hepatitis C (IEP)

DiGeorge syndrome (IAGP)

genetic disease (IAGP)

immunodeficiency 51 (IAGP)

leiomyosarcoma (EXP)

Lung Neoplasms (EXP)

Neurodevelopmental Disorders (IAGP)

Polyarteritis Nodosa, Childhood-Onset (IAGP)

Pseudo-TORCH Syndrome 2 (IAGP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-alpha-phellandrene (EXP)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

1-chloro-2,4-dinitrobenzene (ISO)

17beta-estradiol (EXP,ISO)

17beta-estradiol 3-benzoate (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dinitrotoluene (ISO)

2-hydroxypropanoic acid (EXP)

3,3',4,4',5-pentachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

3-methylcholanthrene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (ISO)

4-(ethoxymethylene)-2-phenyloxazol-5-one (ISO)

4-hydroxynon-2-enal (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

Actein (ISO)

all-trans-retinoic acid (EXP,ISO)

alpha-phellandrene (EXP)

aluminium atom (ISO)

aluminium(0) (ISO)

arsane (EXP)

arsenic atom (EXP)

benzene (EXP)

benzo[a]pyrene (EXP,ISO)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

Butylbenzyl phthalate (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chlordecone (ISO)

chloroprene (ISO)

chromium(6+) (ISO)

cisplatin (EXP,ISO)

clofibrate (ISO)

clofibric acid (ISO)

cobalt dichloride (EXP)

copper(II) sulfate (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

DDE (EXP)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dichloromethane (EXP)

dieldrin (ISO)

diethyl maleate (ISO)

diethyl phthalate (ISO)

diethylstilbestrol (ISO)

diisobutyl phthalate (ISO)

diisononyl phthalate (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

ethylbenzene (EXP)

flutamide (ISO)

folic acid (ISO)

fumonisin B1 (ISO)

Genipin (ISO)

gentamycin (ISO)

GW 4064 (ISO)

indometacin (EXP)

inulin (ISO)

iohexol (EXP)

iopamidol (EXP)

lead diacetate (ISO)

lidocaine (ISO)

lipopolysaccharide (EXP,ISO)

manganese atom (ISO)

manganese(0) (ISO)

manganese(II) chloride (ISO)

methapyrilene (ISO)

methotrexate (ISO)

methylmercury chloride (EXP)

N-methyl-4-phenylpyridinium (ISO)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

nickel sulfate (EXP)

o-xylene (EXP)

okadaic acid (EXP)

orphenadrine (ISO)

oxaliplatin (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (EXP)

phenformin (ISO)

phenobarbital (ISO)

phorbol 13-acetate 12-myristate (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

propiconazole (ISO)

rac-lactic acid (EXP)

resveratrol (ISO)

rotenone (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 431542 (EXP)

silver atom (ISO)

silver(0) (ISO)

sodium arsenite (EXP)

Soman (ISO)

succimer (ISO)

sunitinib (EXP)

tamoxifen (ISO)

temozolomide (EXP)

tenofovir disoproxil fumarate (ISO)

tert-butyl hydroperoxide (ISO)

testosterone (ISO)

tetraphene (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

tofacitinib (EXP)

toluene (EXP)

toluene 2,4-diisocyanate (ISO)

topotecan (ISO)

trichloroethene (EXP,ISO)

triphenyl phosphate (EXP)

trovafloxacin (ISO)

tungsten (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP)

zidovudine (EXP)

zinc atom (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

antiviral innate immune response (IDA)

negative regulation of type I interferon-mediated signaling pathway (IDA)

protein deubiquitination (IEA,TAS)

proteolysis (IEA)

regulation of inflammatory response (IMP)

regulation of protein stability (IBA)

response to bacterium (IEA)

response to stilbenoid (IEA)

Cellular Component

cytoplasm (IC,IEA)

cytosol (IBA,IDA,TAS)

nucleus (IBA,IDA,IEA,TAS)

Molecular Function

cysteine-type deubiquitinase activity (IBA,IEA,TAS)

cysteine-type peptidase activity (IEA)

hydrolase activity (IEA)

ISG15-specific peptidase activity (EXP,IEA)

molecular adaptor activity (IDA)

peptidase activity (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal renal corticomedullary differentiation (IAGP)

Acute respiratory distress syndrome (IAGP)

Ascites (IAGP)

Autosomal recessive inheritance (IAGP)

Bradycardia (IAGP)

Cerebellar hypoplasia (IAGP)

Cerebral calcification (IAGP)

Cerebral hemorrhage (IAGP)

Elevated circulating hepatic transaminase concentration (IAGP)

Fetal distress (IAGP)

Fetal onset (IAGP)

Generalized hypotonia (IAGP)

Gray matter heterotopia (IAGP)

Hepatomegaly (IAGP)

Lactic acidosis (IAGP)

Lateral ventricle dilatation (IAGP)

Lethargy (IAGP)

Microcephaly (IAGP)

Neonatal onset (IAGP)

Patent ductus arteriosus (IAGP)

Petechiae (IAGP)

Pleural effusion (IAGP)

Polymicrogyria (IAGP)

Respiratory insufficiency (IAGP)

Schizophrenia (IAGP)

Secundum atrial septal defect (IAGP)

Seizure (IAGP)

Thin ribs (IAGP)

Thrombocytopenia (IAGP)

Ventriculomegaly (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	UBP43 (USP18) specifically removes ISG15 from conjugated proteins.	Malakhov MP, etal., J Biol Chem 2002 Mar 22;277(12):9976-81. Epub 2002 Jan 11.
3.	Hepatic IFNL4 expression is associated with non-response to interferon-based therapy through the regulation of basal interferon-stimulated gene expression in chronic hepatitis C patients.	Murakawa M, etal., J Med Virol. 2017 Jul;89(7):1241-1247. doi: 10.1002/jmv.24763. Epub 2017 Feb 27.
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10722734	PMID:10777664	PMID:11076863	PMID:11230166	PMID:11256614	PMID:11313150	PMID:12477932	PMID:12838346	PMID:15342634	PMID:15461802	PMID:15489334	PMID:15489336
PMID:16189514	PMID:16381901	PMID:16710296	PMID:17374743	PMID:19551150	PMID:19615732	PMID:20068173	PMID:20935222	PMID:21516116	PMID:21592959	PMID:21873635	PMID:22100648
PMID:22170061	PMID:22626734	PMID:22658674	PMID:22677194	PMID:22683641	PMID:22731491	PMID:22752428	PMID:23152055	PMID:23291318	PMID:23700969	PMID:23825189	PMID:24705354
PMID:24742347	PMID:24768535	PMID:24955730	PMID:25307056	PMID:25416956	PMID:25906440	PMID:26008745	PMID:26046984	PMID:26116899	PMID:26186194	PMID:26240016	PMID:27009955
PMID:27227879	PMID:27325888	PMID:27434537	PMID:27605457	PMID:27716962	PMID:27801882	PMID:27980214	PMID:28165509	PMID:28165510	PMID:28369997	PMID:28514442	PMID:28630501
PMID:28709980	PMID:28718215	PMID:28881486	PMID:29285303	PMID:29749454	PMID:30068654	PMID:30126853	PMID:30323974	PMID:30686098	PMID:30858391	PMID:31074081	PMID:31455647
PMID:31515488	PMID:31658294	PMID:31836668	PMID:31886294	PMID:32092142	PMID:32248821	PMID:32296183	PMID:32368392	PMID:32527992	PMID:32742193	PMID:32814053	PMID:33051403
PMID:33214684	PMID:33461172	PMID:33533212	PMID:33694203	PMID:33961781	PMID:34001679	PMID:34016972	PMID:34599178	PMID:34663977	PMID:34743935	PMID:34759076	PMID:34857952
PMID:35063764	PMID:35180471	PMID:35258551	PMID:35387560	PMID:35696596	PMID:35913115	PMID:35962463	PMID:36376024	PMID:36646704	PMID:36753016	PMID:37186433	PMID:37257245
PMID:37422930	PMID:37442266	PMID:37506491	PMID:37625543	PMID:38691302	PMID:39424095

Genomics

Comparative Map Data

USP18
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	18,150,170 - 18,177,397 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	18,149,843 - 18,177,397 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	18,632,937 - 18,660,164 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	17,012,758 - 17,040,164 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	17,007,311 - 17,034,714	NCBI
Celera	22	2,251,821 - 2,269,866 (+)	NCBI		Celera
Cytogenetic Map	22	q11.21	NCBI
HuRef	22	2,445,183 - 2,472,579 (+)	NCBI		HuRef
CHM1_1	22	18,632,478 - 18,659,884 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	18,822,080 - 18,849,307 (+)	NCBI		T2T-CHM13v2.0

Usp18
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	121,222,865 - 121,247,876 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	121,222,865 - 121,247,876 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	121,245,906 - 121,270,917 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	121,245,906 - 121,270,917 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	121,195,924 - 121,220,935 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	121,211,575 - 121,236,536 (+)	NCBI		MGSCv36	mm8
Celera	6	123,079,923 - 123,105,170 (+)	NCBI		Celera
Cytogenetic Map	6	F1	NCBI
cM Map	6	57.17	NCBI

Usp18
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	156,143,770 - 156,171,292 (+)	NCBI		GRCr8
mRatBN7.2	4	154,471,634 - 154,499,154 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	154,471,592 - 154,499,144 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	160,737,808 - 160,765,283 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	156,521,289 - 156,548,767 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	155,144,802 - 155,172,259 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	153,812,312 - 153,834,374 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	153,805,993 - 153,834,430 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	220,901,558 - 220,922,139 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	157,692,720 - 157,694,884 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	4	143,317,875 - 143,338,351 (+)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Usp18
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955454	6,171,569 - 6,203,091 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955454	6,171,575 - 6,200,879 (+)	NCBI	ChiLan1.0	ChiLan1.0

USP18
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	23	28,464,266 - 28,491,820 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	31,012,239 - 31,041,912 (+)	NCBI		NHGRI_mPanPan1

USP18
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	27	45,739,845 - 45,814,668 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	27	868,159 - 943,927 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	27	46,107,395 - 46,183,398 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	27	46,106,886 - 46,183,378 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	27	46,041,070 - 46,116,807 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	27	46,008,145 - 46,083,815 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	27	223,830 - 299,560 (-)	NCBI		UU_Cfam_GSD_1.0

Usp18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	109,829,924 - 109,854,928 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936807	1,090,882 - 1,114,770 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936807	1,090,928 - 1,116,166 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

USP18
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	70,183,308 - 70,229,572 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	70,183,321 - 70,227,990 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	72,536,548 - 72,595,957 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Usp18
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624735	9,158,597 - 9,187,503 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in USP18
48 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 22q11.21(chr22:18628019-20311763)	copy number gain	Motor delay [RCV001291948]	Chr22:18628019..20311763 [GRCh37] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	copy number gain	See cases [RCV000050858]	Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	copy number loss	See cases [RCV000050859]	Chr22:16916608..20324240 [GRCh38] Chr22:17397498..20311763 [GRCh37] Chr22:15777498..18691763 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	copy number gain	See cases [RCV000050614]	Chr22:16916608..21151128 [GRCh38] Chr22:17397498..21505417 [GRCh37] Chr22:15777498..19835417 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	copy number loss	See cases [RCV000051270]	Chr22:16538125..20363937 [GRCh38] Chr22:17019015..20718227 [GRCh37] Chr22:15399015..19048227 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145052-21086366)x1	copy number loss	See cases [RCV000051271]	Chr22:18145052..21086366 [GRCh38] Chr22:18627819..21440655 [GRCh37] Chr22:17007819..19770655 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x1	copy number loss	See cases [RCV000051275]	Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	copy number gain	See cases [RCV000051127]	Chr22:16916608..18718532 [GRCh38] Chr22:17397498..18706045 [GRCh37] Chr22:15777498..17086045 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	copy number loss	See cases [RCV000051272]	Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18167908-21101267)x3	copy number gain	See cases [RCV000051273]	Chr22:18167908..21101267 [GRCh38] Chr22:18650675..21455556 [GRCh37] Chr22:17030675..19785556 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3	copy number gain	See cases [RCV000051918]	Chr22:18169870..21559889 [GRCh38] Chr22:18652637..21914178 [GRCh37] Chr22:17032637..20244178 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	copy number gain	See cases [RCV000053100]	Chr22:11121452..18167952 [GRCh38] Chr22:16230024..18650719 [GRCh37] Chr22:14610024..17030719 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053103]\|See cases [RCV000053103]	Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20402677 [GRCh37] Chr22:15777498..18782677 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	copy number gain	See cases [RCV000053104]	Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23	pathogenic
GRCh38/hg38 22q11.21(chr22:18050488-18955291)x3	copy number gain	See cases [RCV000053105]	Chr22:18050488..18955291 [GRCh38] Chr22:18533254..18942804 [GRCh37] Chr22:16913254..17322804 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	copy number loss	See cases [RCV000133786]	Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	copy number gain	See cases [RCV000133682]	Chr22:16916608..20343532 [GRCh38] Chr22:17397498..20659606 [GRCh37] Chr22:15777498..18989606 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	copy number gain	See cases [RCV000133785]	Chr22:16916608..20354644 [GRCh38] Chr22:17397498..20708934 [GRCh37] Chr22:15777498..19038934 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	copy number gain	See cases [RCV000134065]	Chr22:16916743..19597367 [GRCh38] Chr22:17397633..19584890 [GRCh37] Chr22:15777633..17964890 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18087546-19196905)x3	copy number gain	See cases [RCV000136884]	Chr22:18087546..19196905 [GRCh38] Chr22:18570312..19184416 [GRCh37] Chr22:16950312..17564416 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	copy number gain	See cases [RCV000138648]	Chr22:16916743..18718546 [GRCh38] Chr22:17397633..18706059 [GRCh37] Chr22:15777633..17086059 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	copy number gain	See cases [RCV000138423]	Chr22:16916743..18178991 [GRCh38] Chr22:17397633..18661758 [GRCh37] Chr22:15777633..17041758 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18166089-21111373)x1	copy number loss	See cases [RCV000142253]	Chr22:18166089..21111373 [GRCh38] Chr22:18648856..21465662 [GRCh37] Chr22:17028856..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18168847-21086166)x3	copy number gain	See cases [RCV000135308]	Chr22:18168847..21086166 [GRCh38] Chr22:18651614..21440455 [GRCh37] Chr22:17031614..19770455 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145380-21086226)x1	copy number loss	See cases [RCV000134837]	Chr22:18145380..21086226 [GRCh38] Chr22:18628147..21440515 [GRCh37] Chr22:17008147..19770515 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21109830)x1	copy number loss	See cases [RCV000137985]	Chr22:18145252..21109830 [GRCh38] Chr22:18628019..21464119 [GRCh37] Chr22:17008019..19794119 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.21(chr22:18127193-18168847)x3	copy number gain	See cases [RCV000140769]	Chr22:18127193..18168847 [GRCh38] Chr22:18609960..18651614 [GRCh37] Chr22:16989960..17031614 [NCBI36] Chr22:22q11.21	benign
GRCh38/hg38 22q11.21(chr22:18157962-21111370)x3	copy number gain	See cases [RCV000141737]	Chr22:18157962..21111370 [GRCh38] Chr22:18640729..21465659 [GRCh37] Chr22:17020729..19795659 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	copy number gain	See cases [RCV000142442]	Chr22:16916608..18997006 [GRCh38] Chr22:17397498..18984519 [GRCh37] Chr22:15777498..17364519 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	copy number gain	See cases [RCV000142570]	Chr22:16916608..18179006 [GRCh38] Chr22:17397498..18661773 [GRCh37] Chr22:15777498..17041773 [NCBI36] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-18917748)x4	copy number gain	See cases [RCV000515599]	Chr22:16114244..18917748 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16054691-18650708)x4	copy number gain	See cases [RCV000240512]	Chr22:16054691..18650708 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	copy number gain	See cases [RCV000240348]	Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16800000-21500000)x4	copy number gain	not provided [RCV001270641]	Chr22:16800000..21500000 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3	copy number gain	See cases [RCV000446787]	Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4	copy number gain	See cases [RCV000446925]	Chr22:16888899..18644773 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644772-21041014)x3	copy number gain	See cases [RCV000446741]	Chr22:18644772..21041014 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1	copy number loss	See cases [RCV000447063]	Chr22:18648866..21798907 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17450514-18636846)x3	copy number gain	Cat eye syndrome [RCV000446162]	Chr22:17450514..18636846 [GRCh37] Chr22:22q11.1-11.21	pathogenic\|uncertain significance
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x1	copy number loss	See cases [RCV000446173]	Chr22:18650664..21440455 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20000830)x1	copy number loss	See cases [RCV000446695]	Chr22:16888899..20000830 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465662)x1	copy number loss	See cases [RCV000447176]	Chr22:18645353..21465662 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x3	copy number gain	See cases [RCV000445951]	Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18637139-20289862)	copy number gain	Abnormal esophagus morphology [RCV000416656]	Chr22:18637139..20289862 [GRCh37] Chr22:22q11.21	likely pathogenic
GRCh37/hg19 22q11.21(chr22:18561622-18897741)x3	copy number gain	See cases [RCV000448214]	Chr22:18561622..18897741 [GRCh37] Chr22:22q11.21	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x3	copy number gain	See cases [RCV000448365]	Chr22:16888899..18916828 [GRCh37] Chr22:22q11.1-11.21	pathogenic
USP18, 3-PRIME DEL	deletion	Pseudo-TORCH syndrome 2 [RCV000477666]	Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.652C>T (p.Gln218Ter)	single nucleotide variant	Pseudo-TORCH syndrome 2 [RCV000477724]	Chr22:18169868 [GRCh38] Chr22:18652635 [GRCh37] Chr22:22q11.21	pathogenic\|likely pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20026751)x1	copy number loss	See cases [RCV000510232]	Chr22:16888900..20026751 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18640300)	copy number gain	See cases [RCV000511748]	Chr22:16888900..18640300 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)	copy number gain	See cases [RCV000511922]	Chr22:16888899..18916828 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.534C>T (p.Cys178=)	single nucleotide variant	Inborn genetic diseases [RCV003300255]	Chr22:18167943 [GRCh38] Chr22:18650710 [GRCh37] Chr22:22q11.21	likely benign
GRCh37/hg19 22q11.21(chr22:18650745-21460220)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000767592]	Chr22:18650745..21460220 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1	copy number loss	not provided [RCV000684517]	Chr22:18626108..21800797 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	copy number gain	not provided [RCV000684521]	Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x3	copy number gain	not provided [RCV000684501]	Chr22:16888899..18649190 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16114244-20737903)x3	copy number gain	not provided [RCV000741690]	Chr22:16114244..20737903 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.21(chr22:18633446-19008108)x3	copy number gain	not provided [RCV000741719]	Chr22:18633446..19008108 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18633978-19016663)x3	copy number gain	not provided [RCV000741720]	Chr22:18633978..19016663 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18635125-18884148)x1	copy number loss	not provided [RCV000741721]	Chr22:18635125..18884148 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.97G>A (p.Asp33Asn)	single nucleotide variant	USP18-related disorder [RCV003925825]\|not provided [RCV000937779]	Chr22:18157760 [GRCh38] Chr22:18640527 [GRCh37] Chr22:22q11.21	likely benign
NM_017414.4(USP18):c.967A>G (p.Ile323Val)	single nucleotide variant	not provided [RCV000961727]	Chr22:18173225 [GRCh38] Chr22:18655992 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.158-5T>G	single nucleotide variant	not provided [RCV000967579]	Chr22:18160167 [GRCh38] Chr22:18642934 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18844632-19008108)	copy number loss	Aortic valve disease 1 [RCV000770946]	Chr22:18844632..19008108 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:17072086-20130474)	copy number gain	not provided [RCV000767814]	Chr22:17072086..20130474 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17289827-20311922)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000767815]	Chr22:17289827..20311922 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.219C>T (p.Phe73=)	single nucleotide variant	not provided [RCV000897403]	Chr22:18160233 [GRCh38] Chr22:18643000 [GRCh37] Chr22:22q11.21	likely benign
NM_017414.4(USP18):c.974A>G (p.Asn325Ser)	single nucleotide variant	not provided [RCV000963213]	Chr22:18173232 [GRCh38] Chr22:18655999 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18648866-19004772)x1	copy number loss	not provided [RCV000845766]	Chr22:18648866..19004772 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1	copy number loss	Velocardiofacial syndrome [RCV000788059]	Chr22:18636749..21800471 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18916828)x4	copy number gain	not provided [RCV001007158]	Chr22:16888899..18916828 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	copy number gain	not provided [RCV001007163]	Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1	pathogenic
GRCh37/hg19 22q11.21(chr22:18649189-19024657)x1	copy number loss	not provided [RCV000845816]	Chr22:18649189..19024657 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1	copy number loss	Velocardiofacial syndrome [RCV000788057]	Chr22:18631364..21800471 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000788061]	Chr22:18648855..21461017 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18649189-19004731)x1	copy number loss	not provided [RCV000848408]	Chr22:18649189..19004731 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:17055733-20312661)x3	copy number gain	not provided [RCV000845704]	Chr22:17055733..20312661 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.1073+1G>A	single nucleotide variant	Pseudo-TORCH syndrome 2 [RCV001000098]	Chr22:18173843 [GRCh38] Chr22:18656610 [GRCh37] Chr22:22q11.21	pathogenic\|likely pathogenic
NM_017414.4(USP18):c.633C>T (p.Asp211=)	single nucleotide variant	not provided [RCV000940134]	Chr22:18169849 [GRCh38] Chr22:18652616 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.1017T>A (p.Ile339=)	single nucleotide variant	not provided [RCV000918319]	Chr22:18173275 [GRCh38] Chr22:18656042 [GRCh37] Chr22:22q11.21	likely benign
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644773)x4	copy number gain	not provided [RCV001007161]	Chr22:16888899..18644773 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20125005)x1	copy number loss	not provided [RCV001007156]	Chr22:16888899..20125005 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.166G>T (p.Gly56Cys)	single nucleotide variant	Inborn genetic diseases [RCV004685451]	Chr22:18160180 [GRCh38] Chr22:18642947 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.840_841insCA (p.Phe281fs)	insertion	Pseudo-TORCH syndrome 2 [RCV001292879]	Chr22:18170869..18170870 [GRCh38] Chr22:18653636..18653637 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1	copy number loss	Chromosome 22q11.2 deletion syndrome, distal [RCV001801214]	Chr22:18660135..21737597 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3	copy number gain	See cases [RCV001780075]	Chr22:16850000..18885000 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18626109-19285816)x1	copy number loss	not provided [RCV001834538]	Chr22:18626109..19285816 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4	copy number gain	Cat eye syndrome [RCV002221456]	Chr22:16888899..18644241 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	copy number loss	See cases [RCV002287573]	Chr22:18644542..21465659 [GRCh37] Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.891+1G>T	single nucleotide variant	Pseudo-TORCH syndrome 2 [RCV003236258]	Chr22:18170921 [GRCh38] Chr22:18653688 [GRCh37] Chr22:22q11.21	likely pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21800797)	copy number loss	DiGeorge syndrome [RCV002280727]	Chr22:18645353..21800797 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)	copy number loss	DiGeorge syndrome [RCV002280730]	Chr22:18644790..21800471 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)	copy number loss	DiGeorge syndrome [RCV002280731]	Chr22:18648866..21798907 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	copy number loss	Syndromic anorectal malformation [RCV002286606]	Chr22:18644702..21467607 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	copy number loss	not provided [RCV002473959]	Chr22:18644543..21800797 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3	copy number gain	not provided [RCV002472883]	Chr22:18648867..20311858 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)x3	copy number gain	not provided [RCV002472499]	Chr22:16888900..18916828 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.5G>A (p.Ser2Asn)	single nucleotide variant	Inborn genetic diseases [RCV002683956]	Chr22:18157668 [GRCh38] Chr22:18640435 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.947C>G (p.Ser316Cys)	single nucleotide variant	Inborn genetic diseases [RCV002858847]	Chr22:18173205 [GRCh38] Chr22:18655972 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.80A>G (p.Glu27Gly)	single nucleotide variant	Inborn genetic diseases [RCV002691561]	Chr22:18157743 [GRCh38] Chr22:18640510 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.907G>A (p.Glu303Lys)	single nucleotide variant	Inborn genetic diseases [RCV002693230]\|Pseudo-TORCH syndrome 2 [RCV003140220]	Chr22:18173165 [GRCh38] Chr22:18655932 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.113G>A (p.Arg38Lys)	single nucleotide variant	Inborn genetic diseases [RCV002697735]	Chr22:18157776 [GRCh38] Chr22:18640543 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.511C>T (p.Arg171Trp)	single nucleotide variant	Inborn genetic diseases [RCV002787117]	Chr22:18167920 [GRCh38] Chr22:18650687 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.355C>T (p.Arg119Trp)	single nucleotide variant	Inborn genetic diseases [RCV002853869]	Chr22:18161890 [GRCh38] Chr22:18644657 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	copy number gain	Anomalous pulmonary venous return [RCV003223583]	Chr22:16804110..18162024 [GRCh38] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.672C>G (p.Ser224Arg)	single nucleotide variant	Inborn genetic diseases [RCV003351953]	Chr22:18169888 [GRCh38] Chr22:18652655 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	copy number loss	not provided [RCV003483389]	Chr22:17832142..20945625 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18253057-18649190)x3	copy number gain	not provided [RCV003485233]	Chr22:18253057..18649190 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18291253-18644791)x3	copy number gain	not provided [RCV003485234]	Chr22:18291253..18644791 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.-106-25G>A	single nucleotide variant	not specified [RCV003397052]	Chr22:18157533 [GRCh38] Chr22:18640300 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.401-100A>G	single nucleotide variant	not specified [RCV003489061]	Chr22:18167155 [GRCh38] Chr22:18649922 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	copy number loss	See cases [RCV004442844]	Chr22:18648856..21800471 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	copy number gain	See cases [RCV004442816]	Chr22:18649190..21022258 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	copy number gain	not provided [RCV004577503]	Chr22:16849364..20311389 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.931G>A (p.Val311Met)	single nucleotide variant	Inborn genetic diseases [RCV004971976]	Chr22:18173189 [GRCh38] Chr22:18655956 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.35G>A (p.Cys12Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004971983]	Chr22:18157698 [GRCh38] Chr22:18640465 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.785G>A (p.Arg262Lys)	single nucleotide variant	Inborn genetic diseases [RCV004971982]	Chr22:18170814 [GRCh38] Chr22:18653581 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.358C>T (p.Pro120Ser)	single nucleotide variant	Pseudo-TORCH syndrome 2 [RCV005235829]	Chr22:18161893 [GRCh38] Chr22:18644660 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.930C>G (p.His310Gln)	single nucleotide variant	not provided [RCV005250700]	Chr22:18173188 [GRCh38] Chr22:18655955 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18496970-18917031)x3	copy number gain	not provided [RCV004819661]	Chr22:18496970..18917031 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh38/hg38 22q11.21(chr22:18161474-21111373)x1	copy number loss	See cases [RCV000142151]	Chr22:18161474..21111373 [GRCh38] Chr22:18644241..21465662 [GRCh37] Chr22:17024241..19795662 [NCBI36] Chr22:22q11.21	pathogenic
GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	copy number gain	See cases [RCV000140776]	Chr22:16367190..18178957 [GRCh38] Chr22:16054691..18661724 [GRCh37] Chr22:14434691..17041724 [NCBI36] Chr22:22p11.2-q11.1	pathogenic
GRCh38/hg38 22q11.21(chr22:18145252-21151128)x1	copy number loss	See cases [RCV000148178]	Chr22:18145252..21151128 [GRCh38] Chr22:18628019..21505417 [GRCh37] Chr22:17008019..19835417 [NCBI36] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17012935-21431054)x4	copy number gain	See cases [RCV000258792]	Chr22:17012935..21431054 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440514)x3	copy number gain	See cases [RCV000240570]	Chr22:18650664..21440514 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	copy number gain	See cases [RCV000240483]	Chr22:17264511..23238029 [GRCh37] Chr22:22q11.1-11.22	pathogenic
GRCh37/hg19 22q11.21(chr22:18411443-18650708)x3	copy number gain	See cases [RCV000240484]	Chr22:18411443..18650708 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18640729-21465659)x3	copy number gain	See cases [RCV000449438]	Chr22:18640729..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3	copy number gain	See cases [RCV000447318]	Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465662)x1	copy number loss	See cases [RCV000446673]	Chr22:18648866..21465662 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1	copy number loss	See cases [RCV000447211]	Chr22:18644790..21915509 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18636748-21465659)x3	copy number gain	See cases [RCV000447019]	Chr22:18636748..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1	copy number loss	See cases [RCV000446545]	Chr22:18644790..21800471 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18189295-18649167)x3	copy number gain	See cases [RCV000447442]	Chr22:18189295..18649167 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1	copy number loss	See cases [RCV000447508]	Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x1	copy number loss	See cases [RCV000446944]	Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18631979-21465659)x3	copy number gain	See cases [RCV000448925]	Chr22:18631979..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1	copy number loss	See cases [RCV000448538]	Chr22:18648866..21800797 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20716903)x1	copy number loss	See cases [RCV000448331]	Chr22:16888899..20716903 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x1	copy number loss	See cases [RCV000448762]	Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18650664-21440455)x3	copy number gain	See cases [RCV000448770]	Chr22:18650664..21440455 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3	copy number gain	See cases [RCV000448224]	Chr22:16888899..23723805 [GRCh37] Chr22:22q11.1-11.23	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20311858)x3	copy number gain	See cases [RCV000510690]	Chr22:16888899..20311858 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18648856)x4	copy number gain	See cases [RCV000511343]	Chr22:16888899..18648856 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18649190)x4	copy number gain	See cases [RCV000511374]	Chr22:16888899..18649190 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21460220)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000767593]	Chr22:18650803..21460220 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18650803-21386010)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000767595]	Chr22:18650803..21386010 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21465659)x3	copy number gain	See cases [RCV000512387]	Chr22:18644790..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21465659)x3	copy number gain	not provided [RCV000684512]	Chr22:18645353..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1	copy number loss	not provided [RCV000684516]	Chr22:18648866..21800797 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	copy number loss	not provided [RCV000684513]	Chr22:18644542..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1	copy number loss	not provided [RCV000684519]	Chr22:18644790..21915509 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18496437-18649190)x3	copy number gain	not provided [RCV000684458]	Chr22:18496437..18649190 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-19024659)x1	copy number loss	not provided [RCV000684470]	Chr22:18644790..19024659 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18649189-20311858)x3	copy number gain	not provided [RCV000684500]	Chr22:18649189..20311858 [GRCh37] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del	deletion	Schizophrenia [RCV000754240]	Chr22:18159879..21362822 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del	deletion	Schizophrenia [RCV000754241]	Chr22:18159879..21387988 [GRCh38] Chr22:22q11.21	pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del	deletion	Schizophrenia [RCV000754242]	Chr22:18163926..21277123 [GRCh38] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18640300-18770488)x1	copy number loss	not provided [RCV000741722]	Chr22:18640300..18770488 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18650682-18882195)x1	copy number loss	not provided [RCV000741723]	Chr22:18650682..18882195 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18650746-19743640)x1	copy number loss	not provided [RCV000741724]	Chr22:18650746..19743640 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21(chr22:18655916-18882195)x1	copy number loss	not provided [RCV000741725]	Chr22:18655916..18882195 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000788063]	Chr22:18648855..21927646 [GRCh37] Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.73G>A (p.Asp25Asn)	single nucleotide variant	not provided [RCV000973762]	Chr22:18157736 [GRCh38] Chr22:18640503 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.894T>C (p.Ser298=)	single nucleotide variant	not provided [RCV000976677]	Chr22:18173152 [GRCh38] Chr22:18655919 [GRCh37] Chr22:22q11.21	likely benign
GRCh37/hg19 22q11.21(chr22:18609712-21408430)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000767590]	Chr22:18609712..21408430 [GRCh37] Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.948C>T (p.Ser316=)	single nucleotide variant	not provided [RCV000924803]	Chr22:18173206 [GRCh38] Chr22:18655973 [GRCh37] Chr22:22q11.21	likely benign
GRCh37/hg19 22q11.21(chr22:18611223-21408430)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV000767591]	Chr22:18611223..21408430 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-19024659)x1	copy number loss	not provided [RCV000849613]	Chr22:18648866..19024659 [GRCh37] Chr22:22q11.21	uncertain significance
Single allele	duplication	Neurodevelopmental disorder [RCV000787407]	Chr22:17041669..20247250 [GRCh37] Chr22:22q11.1-11.21	likely pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1	copy number loss	not provided [RCV001007159]	Chr22:16888899..20730144 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-19004736)x1	copy number loss	not provided [RCV000847077]	Chr22:18648866..19004736 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888899-20312661)x3	copy number gain	not provided [RCV000846815]	Chr22:16888899..20312661 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_017414.4(USP18):c.798G>A (p.Thr266=)	single nucleotide variant	not provided [RCV000930097]	Chr22:18170827 [GRCh38] Chr22:18653594 [GRCh37] Chr22:22q11.21	likely benign
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	copy number gain	Cat eye syndrome [RCV001263219]	Chr22:16888899..26483608 [GRCh37] Chr22:22q11.1-12.1	pathogenic
Single allele	deletion	DiGeorge syndrome [RCV001003853]	Chr22:18475385..23764120 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	copy number gain	not provided [RCV001007162]	Chr22:16888899..22290476 [GRCh37] Chr22:22q11.1-11.22	pathogenic
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3	copy number gain	See cases [RCV001263041]	Chr22:18628147..21722313 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21465659)x4	copy number gain	not provided [RCV001259979]	Chr22:18648866..21465659 [GRCh37] Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.535G>C (p.Val179Leu)	single nucleotide variant	Inborn genetic diseases [RCV004685448]	Chr22:18167944 [GRCh38] Chr22:18650711 [GRCh37] Chr22:22q11.21	likely benign
NM_017414.4(USP18):c.970C>T (p.Arg324Trp)	single nucleotide variant	Inborn genetic diseases [RCV004685449]	Chr22:18173228 [GRCh38] Chr22:18655995 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_017414.4(USP18):c.473T>C (p.Val158Ala)	single nucleotide variant	Inborn genetic diseases [RCV004685450]	Chr22:18167327 [GRCh38] Chr22:18650094 [GRCh37] Chr22:22q11.21	uncertain significance
NC_000022.10:g.(?_17565982)_(20052185_?)del	deletion	Immunodeficiency 51 [RCV003122555]\|Vasculitis due to ADA2 deficiency [RCV003107327]	Chr22:17565982..20052185 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18505502-19024659)x3	copy number gain	not provided [RCV001829176]	Chr22:18505502..19024659 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18644790-21798907)	copy number loss	DiGeorge syndrome [RCV002280728]	Chr22:18644790..21798907 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	copy number loss	Syndromic anorectal malformation [RCV002286609]	Chr22:18718623..21563155 [GRCh37] Chr22:22q11.21	likely pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV002280738]	Chr22:16888899..21915509 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:17570796-19695101)x1	copy number loss	not provided [RCV002473774]	Chr22:17570796..19695101 [GRCh37] Chr22:22q11.1-11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	copy number loss	not provided [RCV002474720]	Chr22:18644791..21041014 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18560247-18916828)x3	copy number gain	not provided [RCV002474755]	Chr22:18560247..18916828 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.1-11.21(chr22:16888900-18649190)x4	copy number gain	not provided [RCV002472492]	Chr22:16888900..18649190 [GRCh37] Chr22:22q11.1-11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	copy number loss	not provided [RCV002472511]	Chr22:18648867..21465659 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	copy number gain	not provided [RCV002473937]	Chr22:18648867..21798907 [GRCh37] Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.712C>A (p.Arg238Ser)	single nucleotide variant	Inborn genetic diseases [RCV002793847]	Chr22:18169928 [GRCh38] Chr22:18652695 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.740A>G (p.His247Arg)	single nucleotide variant	Inborn genetic diseases [RCV004685452]	Chr22:18170769 [GRCh38] Chr22:18653536 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.506C>T (p.Thr169Met)	single nucleotide variant	not specified [RCV003397075]	Chr22:18167915 [GRCh38] Chr22:18650682 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.892-57G>A	single nucleotide variant	not specified [RCV003397046]	Chr22:18173093 [GRCh38] Chr22:18655860 [GRCh37] Chr22:22q11.21	benign
NM_017414.4(USP18):c.220G>A (p.Val74Ile)	single nucleotide variant	not specified [RCV003490794]	Chr22:18160234 [GRCh38] Chr22:18643001 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	copy number gain	not provided [RCV004442843]	Chr22:18649190..21800471 [GRCh37] Chr22:22q11.21	pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	copy number gain	not provided [RCV004442760]	Chr22:16888900..20312661 [GRCh37] Chr22:22q11.1-11.21	pathogenic
NM_017414.4(USP18):c.535G>A (p.Val179Ile)	single nucleotide variant	Inborn genetic diseases [RCV004484572]	Chr22:18167944 [GRCh38] Chr22:18650711 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.553A>T (p.Ser185Cys)	single nucleotide variant	Inborn genetic diseases [RCV004484573]	Chr22:18167962 [GRCh38] Chr22:18650729 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.554G>A (p.Ser185Asn)	single nucleotide variant	Inborn genetic diseases [RCV004484574]	Chr22:18167963 [GRCh38] Chr22:18650730 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.820T>A (p.Tyr274Asn)	single nucleotide variant	Inborn genetic diseases [RCV004484575]	Chr22:18170849 [GRCh38] Chr22:18653616 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.971G>A (p.Arg324Gln)	single nucleotide variant	Inborn genetic diseases [RCV004484576]	Chr22:18173229 [GRCh38] Chr22:18655996 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.772C>T (p.Arg258Ter)	single nucleotide variant	Pseudo-TORCH syndrome 2 [RCV005052897]	Chr22:18170801 [GRCh38] Chr22:18653568 [GRCh37] Chr22:22q11.21	pathogenic
NM_017414.4(USP18):c.239C>T (p.Thr80Ile)	single nucleotide variant	Inborn genetic diseases [RCV004971977]	Chr22:18160253 [GRCh38] Chr22:18643020 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.713G>T (p.Arg238Leu)	single nucleotide variant	Inborn genetic diseases [RCV004971978]	Chr22:18169929 [GRCh38] Chr22:18652696 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.848A>G (p.Gln283Arg)	single nucleotide variant	Inborn genetic diseases [RCV004971979]	Chr22:18170877 [GRCh38] Chr22:18653644 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.829C>A (p.Gln277Lys)	single nucleotide variant	Inborn genetic diseases [RCV004971981]	Chr22:18170858 [GRCh38] Chr22:18653625 [GRCh37] Chr22:22q11.21	uncertain significance
NM_017414.4(USP18):c.953A>G (p.His318Arg)	single nucleotide variant	Inborn genetic diseases [RCV004971980]	Chr22:18173211 [GRCh38] Chr22:18655978 [GRCh37] Chr22:22q11.21	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	250
Count of miRNA genes:	234
Interacting mature miRNAs:	239
Transcripts:	ENST00000215794
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1581529	BP71_H	Blood pressure QTL 71 (human)	2	0.001	Blood pressure	pulse pressure	22	11094966	37094966	Human
2289428	BW313_H	Body weight QTL 313 (human)	2.09	0.0015	Body weight	BMI	22	11344284	37344284	Human
597100091	GWAS1196165_H	systemic lupus erythematosus QTL GWAS1196165 (human)		6e-11	systemic lupus erythematosus		22	18166589	18166590	Human

Markers in Region

D22S1604

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	18,633,271 - 18,633,405	UniSTS	GRCh37
Build 36	22	17,013,271 - 17,013,405	RGD	NCBI36
Celera	22	2,252,334 - 2,252,468	RGD
HuRef	22	2,445,696 - 2,445,830	UniSTS

RH98956

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	22	q11.21	UniSTS
GeneMap99-GB4 RH Map	22	28.13	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2432	2788	2241	4941	1723	2345	4	622	1931	464	2268	7268	6441	52	3706	847	1731	1612	171

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_017414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006724074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC008079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF176642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI222587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ243526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014896	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI752849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU584005	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CT841507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000215794 ⟹ ENSP00000215794

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	18,150,170 - 18,177,397 (+)	Ensembl

Ensembl Acc Id:

ENST00000699060 ⟹ ENSP00000514107

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	18,149,843 - 18,177,368 (+)	Ensembl

Ensembl Acc Id:

ENST00000699061

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	18,161,790 - 18,171,981 (+)	Ensembl

Ensembl Acc Id:

ENST00000699062

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	18,170,965 - 18,177,358 (+)	Ensembl

Ensembl Acc Id:

ENST00000715585 ⟹ ENSP00000520484

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	18,150,170 - 18,177,397 (+)	Ensembl

RefSeq Acc Id:

NM_017414 ⟹ NP_059110

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	18,150,170 - 18,177,397 (+)	NCBI
GRCh37	22	18,632,758 - 18,660,164 (+)	ENTREZGENE
Build 36	22	17,012,758 - 17,040,164 (+)	NCBI Archive
HuRef	22	2,445,183 - 2,472,579 (+)	ENTREZGENE
CHM1_1	22	18,632,478 - 18,659,884 (+)	NCBI
T2T-CHM13v2.0	22	18,822,080 - 18,849,307 (+)	NCBI

Sequence:

show sequence

AGTCCCGACGTGGAACTCAGCAGCGGAGGCTGGACGCTTGCATGGCGCTTGAGAGATTCCATCG
TGCCTGGCTCACATAAGCGCTTCCTGGAAGTGAAGTCGTGCTGTCCTGAACGCGGGCCAGGCAG
CTGCGGCCTGGGGGTTTTGGAGTGATCACGAATGAGCAAGGCGTTTGGGCTCCTGAGGCAAATC
TGTCAGTCCATCCTGGCTGAGTCCTCGCAGTCCCCGGCAGATCTTGAAGAAAAGAAGGAAGAAG
ACAGCAACATGAAGAGAGAGCAGCCCAGAGAGCGTCCCAGGGCCTGGGACTACCCTCATGGCCT
GGTTGGTTTACACAACATTGGACAGACCTGCTGCCTTAACTCCTTGATTCAGGTGTTCGTAATG
AATGTGGACTTCACCAGGATATTGAAGAGGATCACGGTGCCCAGGGGAGCTGACGAGCAGAGGA
GAAGCGTCCCTTTCCAGATGCTTCTGCTGCTGGAGAAGATGCAGGACAGCCGGCAGAAAGCAGT
GCGGCCCCTGGAGCTGGCCTACTGCCTGCAGAAGTGCAACGTGCCCTTGTTTGTCCAACATGAT
GCTGCCCAACTGTACCTCAAACTCTGGAACCTGATTAAGGACCAGATCACTGATGTGCACTTGG
TGGAGAGACTGCAGGCCCTGTATACGATCCGGGTGAAGGACTCCTTGATTTGCGTTGACTGTGC
CATGGAGAGTAGCAGAAACAGCAGCATGCTCACCCTCCCACTTTCTCTTTTTGATGTGGACTCA
AAGCCCCTGAAGACACTGGAGGACGCCCTGCACTGCTTCTTCCAGCCCAGGGAGTTATCAAGCA
AAAGCAAGTGCTTCTGTGAGAACTGTGGGAAGAAGACCCGTGGGAAACAGGTCTTGAAGCTGAC
CCATTTGCCCCAGACCCTGACAATCCACCTCATGCGATTCTCCATCAGGAATTCACAGACGAGA
AAGATCTGCCACTCCCTGTACTTCCCCCAGAGCTTGGATTTCAGCCAGATCCTTCCAATGAAGC
GAGAGTCTTGTGATGCTGAGGAGCAGTCTGGAGGGCAGTATGAGCTTTTTGCTGTGATTGCGCA
CGTGGGAATGGCAGACTCCGGTCATTACTGTGTCTACATCCGGAATGCTGTGGATGGAAAATGG
TTCTGCTTCAATGACTCCAATATTTGCTTGGTGTCCTGGGAAGACATCCAGTGTACCTACGGAA
ATCCTAACTACCACTGGCAGGAAACTGCATATCTTCTGGTTTACATGAAGATGGAGTGCTAATG
GAAATGCCCAAAACCTTCAGAGATTGACACGCTGTCATTTTCCATTTCCGTTCCTGGATCTACG
GAGTCTTCTAAGAGATTTTGCAATGAGGAGAAGCATTGTTTTCAAACTATATAACTGAGCCTTA
TTTATAATTAGGGATATTATCAAAATATGTAACCATGAGGCCCCTCAGGTCCTGATCAGTCAGA
ATGGATGCTTTCACCAGCAGACCCGGCCATGTGGCTGCTCGGTCCTGGGTGCTCGCTGCTGTGC
AAGACATTAGCCCTTTAGTTATGAGCCTGTGGGAACTTCAGGGGTTCCCAGTGGGGAGAGCAGT
GGCAGTGGGAGGCATCTGGGGGCCAAAGGTCAGTGGCAGGGGGTATTTCAGTATTATACAACTG
CTGTGACCAGACTTGTATACTGGCTGAATATCAGTGCTGTTTGTAATTTTTCACTTTGAGAACC
AACATTAATTCCATATGAATCAAGTGTTTTGTAACTGCTATTCATTTATTCAGCAAATATTTAT
TGATCATCTCTTCTCCATAAGATAGTGTGATAAACACAGTCATGAATAAAGTTATTTTCCACAA
AA

hide sequence

RefSeq Acc Id:

XM_006724074 ⟹ XP_006724137

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	18,157,773 - 18,177,397 (+)	NCBI

Sequence:

show sequence

GTTTGCAGTGAACCGAGACAGCGCAACCGCACTCCAGCCTGGACGACAGAATGAGACTCCGTCT
CAAAAAAAAAAAAAAAAAAAAAAAGCGAGGGCTGGAAGTCTGGAGCAGGTGCGCGGCTGCAACG
GCAGCCGCGGGAAGCTCGGGCCGGCAGGGTTTCCCCGCACGCTGGCGCCCAGCTCCCGGCGCGG
AGGCCGCTGTAAGTTTCGCTTTCCATTCAGTGGAAAACGAAAGCTGGGCGGGGTGCCACGAGCG
CGGGGCCAGACCAAGGCGGGCCCGGAGCGGAACTTCGGTCCCAGCTCGGTCCCCGGCTCAGTCC
CGACGTGGAACTCAGCAGCGGAGGCTGGACGCTTGCATGGCGCTTGAGAGATTCCATCGTGCCT
GGCTCACATAAGCGCTTCCTGGAAGTGAAGTCGTGCTGTCCTGAACGCGGGCCAGGCAGCTGCG
GCCTGGGGGTTTTGGAGTGATCACGAATGAGCAAGGCGTTTGGGCTCCTGAGGCAAATCTGTCA
GTCCATCCTGGCTGAGTCCTCGCAGTCCCCGGCAGATCTTGAAGAAAAGAAGGAAGAAGACAGC
AACATGAAGAGAGAGCAGCCCAGAGAGCGTCCCAGGGCCTGGGACTACCCTCATGGTCATTAGA
CCCCTCCCGTTTTCCTCTTCTTGACTGCATGCCTGGTTGGTTTACACAACATTGGACAGACCTG
CTGCCTTAACTCCTTGATTCAGGTGTTCGTAATGAATGTGGACTTCACCAGGATATTGAAGAGG
ATCACGGTGCCCAGGGGAGCTGACGAGCAGAGGAGAAGCGTCCCTTTCCAGATGCTTCTGCTGC
TGGAGAAGATGCAGGACAGCCGGCAGAAAGCAGTGCGGCCCCTGGAGCTGGCCTACTGCCTGCA
GAAGTGCAACGTGCCCTTGTTTGTCCAACATGATGCTGCCCAACTGTACCTCAAACTCTGGAAC
CTGATTAAGGACCAGATCACTGATGTGCACTTGGTGGAGAGACTGCAGGCCCTGTATACGATCC
GGGTGAAGGACTCCTTGATTTGCGTTGACTGTGCCATGGAGAGTAGCAGAAACAGCAGCATGCT
CACCCTCCCACTTTCTCTTTTTGATGTGGACTCAAAGCCCCTGAAGACACTGGAGGACGCCCTG
CACTGCTTCTTCCAGCCCAGGGAGTTATCAAGCAAAAGCAAGTGCTTCTGTGAGAACTGTGGGA
AGAAGACCCGTGGGAAACAGGTCTTGAAGCTGACCCATTTGCCCCAGACCCTGACAATCCACCT
CATGCGATTCTCCATCAGGAATTCACAGACGAGAAAGATCTGCCACTCCCTGTACTTCCCCCAG
AGCTTGGATTTCAGCCAGATCCTTCCAATGAAGCGAGAGTCTTGTGATGCTGAGGAGCAGTCTG
GAGGGCAGTATGAGCTTTTTGCTGTGATTGCGCACGTGGGAATGGCAGACTCCGGTCATTACTG
TGTCTACATCCGGAATGCTGTGGATGGAAAATGGTTCTGCTTCAATGACTCCAATATTTGCTTG
GTGTCCTGGGAAGACATCCAGTGTACCTACGGAAATCCTAACTACCACTGGCAGGAAACTGCAT
ATCTTCTGGTTTACATGAAGATGGAGTGCTAATGGAAATGCCCAAAACCTTCAGAGATTGACAC
GCTGTCATTTTCCATTTCCGTTCCTGGATCTACGGAGTCTTCTAAGAGATTTTGCAATGAGGAG
AAGCATTGTTTTCAAACTATATAACTGAGCCTTATTTATAATTAGGGATATTATCAAAATATGT
AACCATGAGGCCCCTCAGGTCCTGATCAGTCAGAATGGATGCTTTCACCAGCAGACCCGGCCAT
GTGGCTGCTCGGTCCTGGGTGCTCGCTGCTGTGCAAGACATTAGCCCTTTAGTTATGAGCCTGT
GGGAACTTCAGGGGTTCCCAGTGGGGAGAGCAGTGGCAGTGGGAGGCATCTGGGGGCCAAAGGT
CAGTGGCAGGGGGTATTTCAGTATTATACAACTGCTGTGACCAGACTTGTATACTGGCTGAATA
TCAGTGCTGTTTGTAATTTTTCACTTTGAGAACCAACATTAATTCCATATGAATCAAGTGTTTT
GTAACTGCTATTCATTTATTCAGCAAATATTTATTGATCATCTCTTCTCCATAAGATAGTGTGA
TAAACACAGTCATGAATAAAGTTATTTTCCACAAAA

hide sequence

RefSeq Acc Id:

XM_054325052 ⟹ XP_054181027

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	18,829,683 - 18,849,307 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_059110	(Get FASTA)	NCBI Sequence Viewer
	XP_006724137	(Get FASTA)	NCBI Sequence Viewer
	XP_054181027	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD49967	(Get FASTA)	NCBI Sequence Viewer
	AAH14896	(Get FASTA)	NCBI Sequence Viewer
	AAP35481	(Get FASTA)	NCBI Sequence Viewer
	BAG36183	(Get FASTA)	NCBI Sequence Viewer
	CAB66625	(Get FASTA)	NCBI Sequence Viewer
	CAB76398	(Get FASTA)	NCBI Sequence Viewer
	CAG33497	(Get FASTA)	NCBI Sequence Viewer
	CAJ86437	(Get FASTA)	NCBI Sequence Viewer
	EAW57790	(Get FASTA)	NCBI Sequence Viewer
	EAW57791	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000215794
	ENSP00000215794.7
GenBank Protein	Q9UMW8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_059110 ⟸ NM_017414

- UniProtKB:

Q6IAD9 (UniProtKB/Swiss-Prot), Q53Y90 (UniProtKB/Swiss-Prot), Q9NY71 (UniProtKB/Swiss-Prot), Q9UMW8 (UniProtKB/Swiss-Prot), A0A8V8TMN0 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSKAFGLLRQICQSILAESSQSPADLEEKKEEDSNMKREQPRERPRAWDYPHGLVGLHNIGQTC
CLNSLIQVFVMNVDFTRILKRITVPRGADEQRRSVPFQMLLLLEKMQDSRQKAVRPLELAYCLQ
KCNVPLFVQHDAAQLYLKLWNLIKDQITDVHLVERLQALYTIRVKDSLICVDCAMESSRNSSML
TLPLSLFDVDSKPLKTLEDALHCFFQPRELSSKSKCFCENCGKKTRGKQVLKLTHLPQTLTIHL
MRFSIRNSQTRKICHSLYFPQSLDFSQILPMKRESCDAEEQSGGQYELFAVIAHVGMADSGHYC
VYIRNAVDGKWFCFNDSNICLVSWEDIQCTYGNPNYHWQETAYLLVYMKMEC

hide sequence

RefSeq Acc Id:

XP_006724137 ⟸ XM_006724074

- Peptide Label:

isoform X1

- Sequence:

show sequence

MNVDFTRILKRITVPRGADEQRRSVPFQMLLLLEKMQDSRQKAVRPLELAYCLQKCNVPLFVQH
DAAQLYLKLWNLIKDQITDVHLVERLQALYTIRVKDSLICVDCAMESSRNSSMLTLPLSLFDVD
SKPLKTLEDALHCFFQPRELSSKSKCFCENCGKKTRGKQVLKLTHLPQTLTIHLMRFSIRNSQT
RKICHSLYFPQSLDFSQILPMKRESCDAEEQSGGQYELFAVIAHVGMADSGHYCVYIRNAVDGK
WFCFNDSNICLVSWEDIQCTYGNPNYHWQETAYLLVYMKMEC

hide sequence

Ensembl Acc Id:

ENSP00000215794 ⟸ ENST00000215794

Ensembl Acc Id:

ENSP00000514107 ⟸ ENST00000699060

RefSeq Acc Id:	XP_054181027 ⟸ XM_054325052
- Peptide Label:	isoform X1

Ensembl Acc Id:

ENSP00000520484 ⟸ ENST00000715585

Protein Domains

USP

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UMW8-F1-model_v2	AlphaFold	Q9UMW8	1-372	view protein structure

Promoters

RGD ID:

6800482

Promoter ID:

HG_KWN:41476

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000316368

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	17,012,684 - 17,013,184 (+)	MPROMDB

RGD ID:

13603150

Promoter ID:

EPDNEW_H27760

Type:

multiple initiation site

Name:

USP18_2

Description:

ubiquitin specific peptidase 18

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H27761

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	18,149,869 - 18,149,929	EPDNEW

RGD ID:

13603154

Promoter ID:

EPDNEW_H27761

Type:

initiation region

Name:

USP18_1

Description:

ubiquitin specific peptidase 18

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H27760

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	18,150,170 - 18,150,230	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12616	AgrOrtholog
COSMIC	USP18	COSMIC
Ensembl Genes	ENSG00000184979	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000215794	ENTREZGENE
	ENST00000215794.8	UniProtKB/Swiss-Prot
Gene3D-CATH	Cysteine proteinases	UniProtKB/Swiss-Prot
GTEx	ENSG00000184979	GTEx
HGNC ID	HGNC:12616	ENTREZGENE
Human Proteome Map	USP18	Human Proteome Map
InterPro	Papain-like_cys_pep_sf	UniProtKB/Swiss-Prot
	Peptidase_C19	UniProtKB/Swiss-Prot
	Peptidase_C19_UCH	UniProtKB/Swiss-Prot
	USP_CS	UniProtKB/Swiss-Prot
	USP_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:11274	UniProtKB/Swiss-Prot
NCBI Gene	11274	ENTREZGENE
OMIM	607057	OMIM
PANTHER	UBIQUITIN CARBOXYL-TERMINAL HYDROLASE	UniProtKB/Swiss-Prot
	UBL CARBOXYL-TERMINAL HYDROLASE 18-RELATED	UniProtKB/Swiss-Prot
Pfam	UCH	UniProtKB/Swiss-Prot
PharmGKB	PA37242	PharmGKB
PROSITE	USP_1	UniProtKB/Swiss-Prot
	USP_2	UniProtKB/Swiss-Prot
	USP_3	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54001	UniProtKB/Swiss-Prot
UniProt	A0A8V8TMN0	ENTREZGENE, UniProtKB/TrEMBL
	A0AAQ5BIJ4_HUMAN	UniProtKB/TrEMBL
	Q53Y90	ENTREZGENE
	Q6IAD9	ENTREZGENE
	Q9NY71	ENTREZGENE
	Q9UMW8	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q53Y90	UniProtKB/Swiss-Prot
	Q6IAD9	UniProtKB/Swiss-Prot
	Q9NY71	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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