CleftGeneDB-Search

Gene: YOD1

Basic information

Tag	Content
Uniprot ID	Q5VVQ6; B2RNX3; Q5VVQ5; Q6ZRS6; Q86T63; Q9P1L8;
Entrez ID	55432
Genbank protein ID	AAI37167.1; BAC87233.1; AAF71033.1; AAI37168.1; CAD89975.1; EAW93509.1; EAW93510.1;
Genbank nucleotide ID	NM_001276320.1; NM_018566.3;
Ensembl protein ID	ENSP00000326813; ENSP00000356051;
Ensembl nucleotide ID	ENSG00000180667
Gene name	Ubiquitin thioesterase OTU1
Gene symbol	YOD1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP's axial channel. Mediates deubiquitination of 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains. Cleaves both polyubiquitin and di-ubiquitin. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. May recruit PLAA, UBXN6 and VCP to damaged lysosome membranes decorated with K48-linked ubiquitin chains and remove these chains allowing autophagosome formation (PubMed:27753622).
Sequence	MFGPAKGRHF GVHPAPGFPG GVSQQAAGTK AGPAGAWPVG SRTDTMWRLR CKAKDGTHVL 60 QGLSSRTRVR ELQGQIAAIT GIAPGGQRIL VGYPPECLDL SNGDTILEDL PIQSGDMLII 120 EEDQTRPRSS PAFTKRGASS YVRETLPVLT RTVVPADNSC LFTSVYYVVE GGVLNPACAP 180 EMRRLIAQIV ASDPDFYSEA ILGKTNQEYC DWIKRDDTWG GAIEISILSK FYQCEICVVD 240 TQTVRIDRFG EDAGYTKRVL LIYDGIHYDP LQRNFPDPDT PPLTIFSSND DIVLVQALEL 300 ADEARRRRQF TDVNRFTLRC MVCQKGLTGQ AEAREHAKET GHTNFGEV 348

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4BOQ
4BOS
4BOZ
4BOQ
4BOS

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	YOD1	539931	Q05B57	Bos taurus	Prediction	More>>
1:1 ortholog	YOD1	490268	E2R1N1	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	YOD1	102177549	A0A452EJV7	Capra hircus	Prediction	More>>
1:1 ortholog	YOD1	55432	Q5VVQ6	Homo sapiens	Publication	More>>
1:1 ortholog	Yod1	226418	Q8CB27	Mus musculus	Prediction	More>>
1:1 ortholog	YOD1	469659	G2HE61	Pan troglodytes	Prediction	More>>
1:1 ortholog	YOD1	100520400	F1RTR7	Sus scrofa	Prediction	More>>
1:1 ortholog	YOD1		U3KMW5	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Yod1	363982	Q32Q05	Rattus norvegicus	Prediction	More>>
1:1 ortholog	yod1	550411	Q567B1	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
YOD1	c.54G>T; p.F18L	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1370369303	p.Phe2Ile	missense variant	-	NC_000001.11:g.207051027A>T	TOPMed
rs1003314898	p.Phe2Cys	missense variant	-	NC_000001.11:g.207051026A>C	TOPMed,gnomAD
rs1290768813	p.Pro4Ser	missense variant	-	NC_000001.11:g.207051021G>A	TOPMed
rs534842552	p.Pro4Leu	missense variant	-	NC_000001.11:g.207051020G>A	1000Genomes,ExAC,gnomAD
rs906407342	p.Ala5Pro	missense variant	-	NC_000001.11:g.207051018C>G	gnomAD
rs777433140	p.Lys6Arg	missense variant	-	NC_000001.11:g.207051014T>C	ExAC,gnomAD
rs1351714496	p.Gly7Arg	missense variant	-	NC_000001.11:g.207051012C>G	TOPMed
rs1203754356	p.Gly11Glu	missense variant	-	NC_000001.11:g.207050999C>T	gnomAD
rs1342236581	p.Val12Phe	missense variant	-	NC_000001.11:g.207050997C>A	TOPMed
rs765201156	p.His13Gln	missense variant	-	NC_000001.11:g.207050992G>T	ExAC,TOPMed,gnomAD
rs1009770682	p.His13Tyr	missense variant	-	NC_000001.11:g.207050994G>A	TOPMed
rs765201156	p.His13Gln	missense variant	-	NC_000001.11:g.207050992G>C	ExAC,TOPMed,gnomAD
rs1278838510	p.His13Pro	missense variant	-	NC_000001.11:g.207050993T>G	TOPMed
rs753406894	p.Pro14Leu	missense variant	-	NC_000001.11:g.207050990G>A	ExAC,gnomAD
rs565704574	p.Pro14Ser	missense variant	-	NC_000001.11:g.207050991G>A	1000Genomes,ExAC,gnomAD
rs753406894	p.Pro14Arg	missense variant	-	NC_000001.11:g.207050990G>C	ExAC,gnomAD
rs765860156	p.Ala15Val	missense variant	-	NC_000001.11:g.207050987G>A	ExAC,TOPMed,gnomAD
rs765860156	p.Ala15Glu	missense variant	-	NC_000001.11:g.207050987G>T	ExAC,TOPMed,gnomAD
rs1441934448	p.Pro16His	missense variant	-	NC_000001.11:g.207050984G>T	TOPMed,gnomAD
rs1441934448	p.Pro16Arg	missense variant	-	NC_000001.11:g.207050984G>C	TOPMed,gnomAD
rs1325347603	p.Gly17Ser	missense variant	-	NC_000001.11:g.207050982C>T	gnomAD
rs532257170	p.Gly17Val	missense variant	-	NC_000001.11:g.207050981C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs563387440	p.Phe18Leu	missense variant	-	NC_000001.11:g.207050977G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1376041975	p.Phe18Ser	missense variant	-	NC_000001.11:g.207050978A>G	TOPMed
rs530167183	p.Pro19Leu	missense variant	-	NC_000001.11:g.207050975G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs549752987	p.Pro19Ser	missense variant	-	NC_000001.11:g.207050976G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1371529379	p.Gly20Arg	missense variant	-	NC_000001.11:g.207050973C>G	TOPMed
rs1454496374	p.Gly21Arg	missense variant	-	NC_000001.11:g.207050970C>G	gnomAD
rs1039331999	p.Val22Ile	missense variant	-	NC_000001.11:g.207050967C>T	gnomAD
rs1446758035	p.Ser23Phe	missense variant	-	NC_000001.11:g.207050963G>A	gnomAD
rs780009774	p.Gln24Lys	missense variant	-	NC_000001.11:g.207050961G>T	ExAC,TOPMed,gnomAD
rs780009774	p.Gln24Glu	missense variant	-	NC_000001.11:g.207050961G>C	ExAC,TOPMed,gnomAD
rs1234695787	p.Gln24Arg	missense variant	-	NC_000001.11:g.207050960T>C	TOPMed
rs746107083	p.Gln25Arg	missense variant	-	NC_000001.11:g.207050957T>C	ExAC,TOPMed,gnomAD
rs983619989	p.Gln25Ter	stop gained	-	NC_000001.11:g.207050958G>A	gnomAD
rs983619989	p.Gln25Glu	missense variant	-	NC_000001.11:g.207050958G>C	gnomAD
rs561023930	p.Ala26Val	missense variant	-	NC_000001.11:g.207050954G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1430227985	p.Ala27Gly	missense variant	-	NC_000001.11:g.207050951G>C	TOPMed,gnomAD
rs541136434	p.Ala27Pro	missense variant	-	NC_000001.11:g.207050952C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs541136434	p.Ala27Thr	missense variant	-	NC_000001.11:g.207050952C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs541136434	p.Ala27Ser	missense variant	-	NC_000001.11:g.207050952C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1430227985	p.Ala27Val	missense variant	-	NC_000001.11:g.207050951G>A	TOPMed,gnomAD
rs1430227985	p.Ala27Asp	missense variant	-	NC_000001.11:g.207050951G>T	TOPMed,gnomAD
rs200758571	p.Gly28Arg	missense variant	-	NC_000001.11:g.207050949C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1421445321	p.Gly28Ala	missense variant	-	NC_000001.11:g.207050948C>G	gnomAD
rs200758571	p.Gly28Arg	missense variant	-	NC_000001.11:g.207050949C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201269070	p.Thr29Ile	missense variant	-	NC_000001.11:g.207050945G>A	ExAC,TOPMed,gnomAD
rs753746933	p.Thr29Ala	missense variant	-	NC_000001.11:g.207050946T>C	ExAC,gnomAD
rs1434778844	p.Lys30Glu	missense variant	-	NC_000001.11:g.207050943T>C	TOPMed,gnomAD
rs1426882875	p.Ala31Thr	missense variant	-	NC_000001.11:g.207050940C>T	TOPMed,gnomAD
rs116505937	p.Pro33Ser	missense variant	-	NC_000001.11:g.207050934G>A	1000Genomes,ExAC
rs767315302	p.Pro33His	missense variant	-	NC_000001.11:g.207050933G>T	ExAC,TOPMed,gnomAD
rs767315302	p.Pro33Leu	missense variant	-	NC_000001.11:g.207050933G>A	ExAC,TOPMed,gnomAD
rs1457681999	p.Ala34Val	missense variant	-	NC_000001.11:g.207050930G>A	TOPMed
rs1243070914	p.Gly35Val	missense variant	-	NC_000001.11:g.207050927C>A	gnomAD
rs764493387	p.Ala36Val	missense variant	-	NC_000001.11:g.207050924G>A	ExAC,gnomAD
rs545732408	p.Ala36Ser	missense variant	-	NC_000001.11:g.207050925C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1326075064	p.Trp37Ter	stop gained	-	NC_000001.11:g.207050920C>T	TOPMed
rs763559031	p.Pro38Thr	missense variant	-	NC_000001.11:g.207050919G>T	ExAC,TOPMed,gnomAD
rs763559031	p.Pro38Ser	missense variant	-	NC_000001.11:g.207050919G>A	ExAC,TOPMed,gnomAD
rs776024148	p.Pro38Leu	missense variant	-	NC_000001.11:g.207050918G>A	ExAC
rs763559031	p.Pro38Ala	missense variant	-	NC_000001.11:g.207050919G>C	ExAC,TOPMed,gnomAD
rs770180166	p.Val39Met	missense variant	-	NC_000001.11:g.207050916C>T	ExAC,gnomAD
rs776571331	p.Arg42Pro	missense variant	-	NC_000001.11:g.207050906C>G	ExAC,TOPMed,gnomAD
rs746000674	p.Arg42Trp	missense variant	-	NC_000001.11:g.207050907G>A	ExAC,gnomAD
rs1299293898	p.Thr43Ile	missense variant	-	NC_000001.11:g.207050903G>A	TOPMed
rs1231453692	p.Arg48Trp	missense variant	-	NC_000001.11:g.207050889G>A	TOPMed,gnomAD
rs576800385	p.Arg50His	missense variant	-	NC_000001.11:g.207050882C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1358468794	p.Cys51Phe	missense variant	-	NC_000001.11:g.207050879C>A	TOPMed
rs1401607197	p.Ala53Val	missense variant	-	NC_000001.11:g.207050873G>A	gnomAD
COSM116566	p.Ala53Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207050873G>C	NCI-TCGA Cosmic
rs747180418	p.Asp55Glu	missense variant	-	NC_000001.11:g.207050866G>T	ExAC,gnomAD
COSM1320528	p.Asp55Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207050866G>C	NCI-TCGA Cosmic
rs778687294	p.Gly56Cys	missense variant	-	NC_000001.11:g.207050865C>A	ExAC,TOPMed,gnomAD
rs778687294	p.Gly56Arg	missense variant	-	NC_000001.11:g.207050865C>G	ExAC,TOPMed,gnomAD
rs1415284430	p.His58Gln	missense variant	-	NC_000001.11:g.207050857A>C	gnomAD
rs749209354	p.Val59Ala	missense variant	-	NC_000001.11:g.207050855A>G	ExAC,gnomAD
rs754732226	p.Val59Ile	missense variant	-	NC_000001.11:g.207050856C>T	ExAC,gnomAD
rs780085839	p.Gly62Glu	missense variant	-	NC_000001.11:g.207050846C>T	ExAC,gnomAD
rs970532602	p.Ser64Phe	missense variant	-	NC_000001.11:g.207050840G>A	TOPMed
rs1173335674	p.Ser65Arg	missense variant	-	NC_000001.11:g.207050836G>T	gnomAD
rs1419786445	p.Ser65Asn	missense variant	-	NC_000001.11:g.207050837C>T	gnomAD
rs1417541227	p.Thr67Ser	missense variant	-	NC_000001.11:g.207050831G>C	gnomAD
NCI-TCGA novel	p.Val69CysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207050826C>-	NCI-TCGA
rs750013764	p.Arg70Gly	missense variant	-	NC_000001.11:g.207050823G>C	ExAC,TOPMed,gnomAD
rs750013764	p.Arg70Trp	missense variant	-	NC_000001.11:g.207050823G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg70ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207050809_207050822GCCCTGGAGTTCCC>-	NCI-TCGA
rs1231250293	p.Gln73Arg	missense variant	-	NC_000001.11:g.207050813T>C	gnomAD
rs767119057	p.Gln73His	missense variant	-	NC_000001.11:g.207050812C>G	ExAC,gnomAD
rs145388036	p.Gly74Ser	missense variant	-	NC_000001.11:g.207050811C>T	ESP,gnomAD
rs557030378	p.Gln75His	missense variant	-	NC_000001.11:g.207050806T>G	1000Genomes,ExAC,gnomAD
rs751188925	p.Ile76Leu	missense variant	-	NC_000001.11:g.207050805T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala77Thr	missense variant	-	NC_000001.11:g.207050802C>T	NCI-TCGA
rs1332459434	p.Ile79Val	missense variant	-	NC_000001.11:g.207050796T>C	TOPMed,gnomAD
rs1370554704	p.Ile82Val	missense variant	-	NC_000001.11:g.207050787T>C	TOPMed
rs763326986	p.Pro84Leu	missense variant	-	NC_000001.11:g.207050780G>A	ExAC,gnomAD
rs568508283	p.Gly85Arg	missense variant	-	NC_000001.11:g.207050778C>G	ExAC,TOPMed,gnomAD
rs568508283	p.Gly85Ser	missense variant	-	NC_000001.11:g.207050778C>T	ExAC,TOPMed,gnomAD
rs568508283	p.Gly85Cys	missense variant	-	NC_000001.11:g.207050778C>A	ExAC,TOPMed,gnomAD
rs770934117	p.Gly86Val	missense variant	-	NC_000001.11:g.207050774C>A	ExAC,gnomAD
rs372148879	p.Val91Ile	missense variant	-	NC_000001.11:g.207050760C>T	ESP,ExAC,TOPMed,gnomAD
rs1426141968	p.Gly92Arg	missense variant	-	NC_000001.11:g.207050757C>G	gnomAD
rs1455126372	p.Tyr93His	missense variant	-	NC_000001.11:g.207050754A>G	TOPMed
rs773378962	p.Pro94Leu	missense variant	-	NC_000001.11:g.207050750G>A	ExAC,gnomAD
rs772256355	p.Pro95Thr	missense variant	-	NC_000001.11:g.207050748G>T	ExAC,gnomAD
rs1370721597	p.Glu96Lys	missense variant	-	NC_000001.11:g.207050745C>T	gnomAD
rs900231254	p.Glu96Asp	missense variant	-	NC_000001.11:g.207050743C>G	TOPMed
rs779707177	p.Cys97Tyr	missense variant	-	NC_000001.11:g.207050741C>T	ExAC,TOPMed,gnomAD
rs779707177	p.Cys97Phe	missense variant	-	NC_000001.11:g.207050741C>A	ExAC,TOPMed,gnomAD
rs1299542402	p.Ser101Asn	missense variant	-	NC_000001.11:g.207050729C>T	gnomAD
rs745733013	p.Gly103Arg	missense variant	-	NC_000001.11:g.207050724C>T	ExAC,gnomAD
rs1323492621	p.Thr105Ile	missense variant	-	NC_000001.11:g.207050717G>A	gnomAD
rs36109022	p.Thr105Ala	missense variant	-	NC_000001.11:g.207050718T>C	ESP,ExAC,TOPMed
rs36109022	p.Thr105Pro	missense variant	-	NC_000001.11:g.207050718T>G	ESP,ExAC,TOPMed
rs36074761	p.Leu107Val	missense variant	-	NC_000001.11:g.207050712G>C	gnomAD
rs751278996	p.Leu110Ser	missense variant	-	NC_000001.11:g.207050702A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu110Val	missense variant	-	NC_000001.11:g.207050703A>C	NCI-TCGA
rs1039301185	p.Pro111Ser	missense variant	-	NC_000001.11:g.207050700G>A	TOPMed
rs1465232733	p.Asp116Tyr	missense variant	-	NC_000001.11:g.207049721C>A	TOPMed
rs1171571881	p.Met117Val	missense variant	-	NC_000001.11:g.207049718T>C	TOPMed
rs370466943	p.Met117Ile	missense variant	-	NC_000001.11:g.207049716C>T	ESP,ExAC,TOPMed,gnomAD
rs769652373	p.Ile120Thr	missense variant	-	NC_000001.11:g.207049708A>G	ExAC,gnomAD
rs776563979	p.Asp123Glu	missense variant	-	NC_000001.11:g.207049698G>C	ExAC,TOPMed,gnomAD
rs776563979	p.Asp123Glu	missense variant	-	NC_000001.11:g.207049698G>T	ExAC,TOPMed,gnomAD
rs1234981489	p.Asp123Gly	missense variant	-	NC_000001.11:g.207049699T>C	gnomAD
rs1234981489	p.Asp123Ala	missense variant	-	NC_000001.11:g.207049699T>G	gnomAD
rs1401081729	p.Gln124Lys	missense variant	-	NC_000001.11:g.207049697G>T	gnomAD
rs1400978935	p.Thr125Ser	missense variant	-	NC_000001.11:g.207049693G>C	gnomAD
rs771050145	p.Thr125Ala	missense variant	-	NC_000001.11:g.207049694T>C	ExAC,gnomAD
rs1400978935	p.Thr125Asn	missense variant	-	NC_000001.11:g.207049693G>T	gnomAD
rs1010707876	p.Arg126Ser	missense variant	-	NC_000001.11:g.207049689C>A	TOPMed
rs746886016	p.Pro127Ser	missense variant	-	NC_000001.11:g.207049688G>A	ExAC,gnomAD
rs1232327811	p.Ser129Gly	missense variant	-	NC_000001.11:g.207049682T>C	TOPMed
rs747861674	p.Ser129Asn	missense variant	-	NC_000001.11:g.207049681C>T	ExAC,gnomAD
rs1386289716	p.Pro131Arg	missense variant	-	NC_000001.11:g.207049675G>C	gnomAD
NCI-TCGA novel	p.Pro131His	missense variant	-	NC_000001.11:g.207049675G>T	NCI-TCGA
rs778483393	p.Ala132Pro	missense variant	-	NC_000001.11:g.207049673C>G	ExAC,TOPMed,gnomAD
rs181845723	p.Arg136His	missense variant	-	NC_000001.11:g.207049660C>T	1000Genomes,ESP,TOPMed,gnomAD
rs1372703172	p.Gly137Ser	missense variant	-	NC_000001.11:g.207049658C>T	gnomAD
rs1169539963	p.Ser139Pro	missense variant	-	NC_000001.11:g.207049652A>G	gnomAD
rs780380722	p.Val142Ile	missense variant	-	NC_000001.11:g.207049643C>T	ExAC,TOPMed,gnomAD
rs780380722	p.Val142Leu	missense variant	-	NC_000001.11:g.207049643C>G	ExAC,TOPMed,gnomAD
rs1039702892	p.Leu146Ser	missense variant	-	NC_000001.11:g.207049630A>G	TOPMed
rs750860045	p.Leu146Phe	missense variant	-	NC_000001.11:g.207049629C>A	ExAC
rs767665086	p.Pro147Ser	missense variant	-	NC_000001.11:g.207049628G>A	ExAC,gnomAD
rs757234099	p.Val148Leu	missense variant	-	NC_000001.11:g.207049625C>A	ExAC,gnomAD
rs751635990	p.Leu149Phe	missense variant	-	NC_000001.11:g.207049622G>A	ExAC,gnomAD
rs1453473571	p.Thr152Asn	missense variant	-	NC_000001.11:g.207049612G>T	TOPMed
rs1396690912	p.Val154Ala	missense variant	-	NC_000001.11:g.207049606A>G	TOPMed
rs1257167658	p.Cys160Tyr	missense variant	-	NC_000001.11:g.207049588C>T	TOPMed,gnomAD
rs776582412	p.Leu161Phe	missense variant	-	NC_000001.11:g.207049586G>A	ExAC,gnomAD
rs1233214008	p.Ser164Arg	missense variant	-	NC_000001.11:g.207049575A>T	gnomAD
COSM5745804	p.Ser164Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049576C>T	NCI-TCGA Cosmic
rs760728190	p.Tyr166His	missense variant	-	NC_000001.11:g.207049571A>G	ExAC,gnomAD
rs772977018	p.Tyr166Cys	missense variant	-	NC_000001.11:g.207049570T>C	ExAC,gnomAD
rs772028326	p.Tyr167Cys	missense variant	-	NC_000001.11:g.207049567T>C	ExAC,TOPMed,gnomAD
rs1467335807	p.Val168Ile	missense variant	-	NC_000001.11:g.207049565C>T	gnomAD
rs1402215524	p.Val169Ile	missense variant	-	NC_000001.11:g.207049562C>T	TOPMed,gnomAD
rs1402215524	p.Val169Leu	missense variant	-	NC_000001.11:g.207049562C>G	TOPMed,gnomAD
rs773903795	p.Glu170Lys	missense variant	-	NC_000001.11:g.207049559C>T	ExAC,gnomAD
COSM2150739	p.Gly171Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049555C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly172Ala	missense variant	-	NC_000001.11:g.207049552C>G	NCI-TCGA
rs1368972461	p.Val173Ala	missense variant	-	NC_000001.11:g.207049549A>G	gnomAD
rs930157982	p.Ala177Val	missense variant	-	NC_000001.11:g.207049537G>A	TOPMed
rs962716600	p.Ala179Gly	missense variant	-	NC_000001.11:g.207049531G>C	TOPMed
rs1198897327	p.Pro180Leu	missense variant	-	NC_000001.11:g.207049528G>A	gnomAD
rs756427873	p.Glu181Asp	missense variant	-	NC_000001.11:g.207049524C>G	ExAC,gnomAD
rs746394478	p.Met182Val	missense variant	-	NC_000001.11:g.207049523T>C	ExAC,gnomAD
rs1213440533	p.Arg183Ser	missense variant	-	NC_000001.11:g.207049518T>G	TOPMed,gnomAD
rs1286433880	p.Arg184His	missense variant	-	NC_000001.11:g.207049516C>T	TOPMed,gnomAD
COSM3803704	p.Arg184Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049516C>A	NCI-TCGA Cosmic
rs772683929	p.Arg184Cys	missense variant	-	NC_000001.11:g.207049517G>A	ExAC,gnomAD
rs1268040501	p.Leu185Arg	missense variant	-	NC_000001.11:g.207049513A>C	TOPMed,gnomAD
rs751648828	p.Ile186Val	missense variant	-	NC_000001.11:g.207049511T>C	ExAC,gnomAD
rs779894187	p.Ile186Thr	missense variant	-	NC_000001.11:g.207049510A>G	TOPMed
rs1449290099	p.Ala187Thr	missense variant	-	NC_000001.11:g.207049508C>T	gnomAD
rs764177106	p.Ile189Met	missense variant	-	NC_000001.11:g.207049500A>C	ExAC,gnomAD
rs1369051532	p.Ile189Asn	missense variant	-	NC_000001.11:g.207049501A>T	gnomAD
rs981028229	p.Ser192Asn	missense variant	-	NC_000001.11:g.207049492C>T	gnomAD
rs115190692	p.Ser192Arg	missense variant	-	NC_000001.11:g.207049491G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766301432	p.Asp193Asn	missense variant	-	NC_000001.11:g.207049490C>T	ExAC,gnomAD
rs370833416	p.Tyr197Cys	missense variant	-	NC_000001.11:g.207049477T>C	ESP,ExAC,TOPMed,gnomAD
rs147748093	p.Ser198Gly	missense variant	-	NC_000001.11:g.207049475T>C	ESP,TOPMed,gnomAD
rs1250725357	p.Glu199Lys	missense variant	-	NC_000001.11:g.207049472C>T	gnomAD
rs202052371	p.Ala200Thr	missense variant	-	NC_000001.11:g.207049469C>T	ExAC,TOPMed,gnomAD
rs750884001	p.Ile201Val	missense variant	-	NC_000001.11:g.207049466T>C	ExAC,TOPMed,gnomAD
rs1292404647	p.Gly203Glu	missense variant	-	NC_000001.11:g.207049459C>T	TOPMed,gnomAD
rs773743947	p.Thr205Lys	missense variant	-	NC_000001.11:g.207049453G>T	ExAC,TOPMed,gnomAD
rs773743947	p.Thr205Arg	missense variant	-	NC_000001.11:g.207049453G>C	ExAC,TOPMed,gnomAD
rs1350509502	p.Gln207Ter	stop gained	-	NC_000001.11:g.207049448G>A	gnomAD
rs748967815	p.Cys210Gly	missense variant	-	NC_000001.11:g.207049439A>C	ExAC,TOPMed,gnomAD
rs748967815	p.Cys210Arg	missense variant	-	NC_000001.11:g.207049439A>G	ExAC,TOPMed,gnomAD
rs1242396123	p.Trp212Cys	missense variant	-	NC_000001.11:g.207049431C>A	gnomAD
rs1459888174	p.Trp212Arg	missense variant	-	NC_000001.11:g.207049433A>G	TOPMed
NCI-TCGA novel	p.Trp212Ter	stop gained	-	NC_000001.11:g.207049431C>T	NCI-TCGA
rs202025113	p.Ile213Val	missense variant	-	NC_000001.11:g.207049430T>C	1000Genomes,ExAC,gnomAD
rs1302914945	p.Lys214Arg	missense variant	-	NC_000001.11:g.207049426T>C	gnomAD
rs1437409728	p.Asp216Asn	missense variant	-	NC_000001.11:g.207049421C>T	gnomAD
rs1331495795	p.Asp217Glu	missense variant	-	NC_000001.11:g.207049416G>C	gnomAD
rs1325202645	p.Thr218Ser	missense variant	-	NC_000001.11:g.207049415T>A	gnomAD
rs1034752363	p.Gly220Arg	missense variant	-	NC_000001.11:g.207049409C>T	TOPMed,gnomAD
rs746259721	p.Gly221Ala	missense variant	-	NC_000001.11:g.207049405C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala222Val	missense variant	-	NC_000001.11:g.207049402G>A	NCI-TCGA
rs1013716970	p.Glu224Lys	missense variant	-	NC_000001.11:g.207049397C>T	-
COSM111735	p.Glu224Val	inframe deletion	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049388_207049396TCGATATCT>-	NCI-TCGA Cosmic
rs141568066	p.Ser226Ala	missense variant	-	NC_000001.11:g.207049391A>C	ESP,ExAC,TOPMed,gnomAD
rs141568066	p.Ser226Pro	missense variant	-	NC_000001.11:g.207049391A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser229Phe	missense variant	-	NC_000001.11:g.207049381G>A	NCI-TCGA
rs969470999	p.Lys230Arg	missense variant	-	NC_000001.11:g.207049378T>C	TOPMed
rs1364468719	p.Ile236Met	missense variant	-	NC_000001.11:g.207049359T>C	TOPMed
rs758500991	p.Val238Ala	missense variant	-	NC_000001.11:g.207049354A>G	ExAC,gnomAD
rs752799654	p.Thr241Lys	missense variant	-	NC_000001.11:g.207049345G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr241Ile	missense variant	-	NC_000001.11:g.207049345G>A	NCI-TCGA
NCI-TCGA novel	p.Gln242Glu	missense variant	-	NC_000001.11:g.207049343G>C	NCI-TCGA
rs779314487	p.Gln242Ter	stop gained	-	NC_000001.11:g.207049343G>A	ExAC,TOPMed,gnomAD
rs1264506167	p.Val244Ile	missense variant	-	NC_000001.11:g.207049337C>T	gnomAD
rs1218945664	p.Arg245Lys	missense variant	-	NC_000001.11:g.207049333C>T	gnomAD
NCI-TCGA novel	p.Asp247Gly	missense variant	-	NC_000001.11:g.207049327T>C	NCI-TCGA
rs750247312	p.Arg248His	missense variant	-	NC_000001.11:g.207049324C>T	ExAC,TOPMed,gnomAD
rs1276453018	p.Ala253Gly	missense variant	-	NC_000001.11:g.207049309G>C	gnomAD
rs767775929	p.Gly254Ala	missense variant	-	NC_000001.11:g.207049306C>G	ExAC,TOPMed,gnomAD
rs767775929	p.Gly254Glu	missense variant	-	NC_000001.11:g.207049306C>T	ExAC,TOPMed,gnomAD
rs767775929	p.Gly254Val	missense variant	-	NC_000001.11:g.207049306C>A	ExAC,TOPMed,gnomAD
rs370174396	p.Tyr255Cys	missense variant	-	NC_000001.11:g.207049303T>C	ESP,ExAC,TOPMed,gnomAD
rs1332858873	p.Thr256Ile	missense variant	-	NC_000001.11:g.207049300G>A	TOPMed,gnomAD
rs774950170	p.Thr256Ala	missense variant	-	NC_000001.11:g.207049301T>C	ExAC,gnomAD
rs1031525232	p.Lys257Arg	missense variant	-	NC_000001.11:g.207049297T>C	TOPMed,gnomAD
COSM1338370	p.Leu260Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049289G>T	NCI-TCGA Cosmic
rs1240163988	p.Gly265Asp	missense variant	-	NC_000001.11:g.207049273C>T	TOPMed
rs1424741649	p.Tyr268Cys	missense variant	-	NC_000001.11:g.207049264T>C	gnomAD
rs1196499438	p.Asp269His	missense variant	-	NC_000001.11:g.207049262C>G	gnomAD
NCI-TCGA novel	p.Leu271Val	missense variant	-	NC_000001.11:g.207049256G>C	NCI-TCGA
rs771286369	p.Gln272His	missense variant	-	NC_000001.11:g.207049251C>G	ExAC,TOPMed,gnomAD
rs771286369	p.Gln272His	missense variant	-	NC_000001.11:g.207049251C>A	ExAC,TOPMed,gnomAD
rs1167241785	p.Gln272Lys	missense variant	-	NC_000001.11:g.207049253G>T	TOPMed
rs189355581	p.Arg273His	missense variant	-	NC_000001.11:g.207049249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747490516	p.Arg273Cys	missense variant	-	NC_000001.11:g.207049250G>A	ExAC,TOPMed,gnomAD
rs1161497777	p.Asn274Lys	missense variant	-	NC_000001.11:g.207049245G>C	TOPMed,gnomAD
rs1271110116	p.Asp277His	missense variant	-	NC_000001.11:g.207049238C>G	gnomAD
rs1271110116	p.Asp277Asn	missense variant	-	NC_000001.11:g.207049238C>T	gnomAD
rs772673359	p.Pro278Ala	missense variant	-	NC_000001.11:g.207049235G>C	ExAC,gnomAD
COSM116182	p.Pro278Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049235G>T	NCI-TCGA Cosmic
rs779118246	p.Asp279Val	missense variant	-	NC_000001.11:g.207049231T>A	ExAC,gnomAD
rs754028989	p.Thr280Ile	missense variant	-	NC_000001.11:g.207049228G>A	ExAC,TOPMed,gnomAD
rs755173166	p.Thr280Ala	missense variant	-	NC_000001.11:g.207049229T>C	ExAC,gnomAD
rs757030638	p.Pro282His	missense variant	-	NC_000001.11:g.207049222G>T	ExAC,gnomAD
rs200240324	p.Phe286Val	missense variant	-	NC_000001.11:g.207049211A>C	ExAC,TOPMed,gnomAD
rs1173265010	p.Ser287Phe	missense variant	-	NC_000001.11:g.207049207G>A	gnomAD
rs752263355	p.Asn289Thr	missense variant	-	NC_000001.11:g.207049201T>G	ExAC,gnomAD
rs752263355	p.Asn289Ser	missense variant	-	NC_000001.11:g.207049201T>C	ExAC,gnomAD
rs764660457	p.Asp290Gly	missense variant	-	NC_000001.11:g.207049198T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp290Asn	missense variant	-	NC_000001.11:g.207049199C>T	NCI-TCGA
rs1473835313	p.Ile292Val	missense variant	-	NC_000001.11:g.207049193T>C	gnomAD
rs759142021	p.Val293Ile	missense variant	-	NC_000001.11:g.207049190C>T	ExAC,gnomAD
rs1178271102	p.Leu294Val	missense variant	-	NC_000001.11:g.207049187G>C	TOPMed,gnomAD
rs1458330793	p.Leu294His	missense variant	-	NC_000001.11:g.207049186A>T	gnomAD
rs1178271102	p.Leu294Phe	missense variant	-	NC_000001.11:g.207049187G>A	TOPMed,gnomAD
rs776296163	p.Val295Ile	missense variant	-	NC_000001.11:g.207049184C>T	ExAC,gnomAD
rs1216319172	p.Ala304Val	missense variant	-	NC_000001.11:g.207049156G>A	TOPMed
COSM3789410	p.Arg305Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049153C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg306Lys	missense variant	-	NC_000001.11:g.207049150C>T	NCI-TCGA
rs1228782180	p.Gln309Arg	missense variant	-	NC_000001.11:g.207049141T>C	gnomAD
rs1277208415	p.Phe310Cys	missense variant	-	NC_000001.11:g.207049138A>C	TOPMed,gnomAD
rs1445590095	p.Phe310Leu	missense variant	-	NC_000001.11:g.207049137A>C	gnomAD
rs139358134	p.Asn314Ser	missense variant	-	NC_000001.11:g.207049126T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774581441	p.Arg315Cys	missense variant	-	NC_000001.11:g.207049124G>A	ExAC,gnomAD
rs974259983	p.Arg315His	missense variant	-	NC_000001.11:g.207049123C>T	TOPMed,gnomAD
rs774581441	p.Arg315Ser	missense variant	-	NC_000001.11:g.207049124G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr317Ala	missense variant	-	NC_000001.11:g.207049118T>C	NCI-TCGA
rs749496673	p.Cys320Tyr	missense variant	-	NC_000001.11:g.207049108C>T	ExAC,gnomAD
rs150517912	p.Met321Leu	missense variant	-	NC_000001.11:g.207049106T>G	ESP,ExAC,TOPMed,gnomAD
rs1178098053	p.Gly326Arg	missense variant	-	NC_000001.11:g.207049091C>G	gnomAD
rs777531418	p.Glu332Gln	missense variant	-	NC_000001.11:g.207049073C>G	ExAC,TOPMed,gnomAD
rs758336309	p.Glu332Asp	missense variant	-	NC_000001.11:g.207049071T>G	ExAC,TOPMed,gnomAD
rs777531418	p.Glu332Lys	missense variant	-	NC_000001.11:g.207049073C>T	ExAC,TOPMed,gnomAD
rs148018717	p.Arg334Ser	missense variant	-	NC_000001.11:g.207049065C>G	ESP,ExAC,gnomAD
rs764673837	p.Glu335Lys	missense variant	-	NC_000001.11:g.207049064C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu335AsnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.207049064C>-	NCI-TCGA
rs1265655896	p.Lys338Arg	missense variant	-	NC_000001.11:g.207049054T>C	TOPMed,gnomAD
COSM4863929	p.Thr340Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049048G>A	NCI-TCGA Cosmic
rs1355545832	p.Thr340Arg	missense variant	-	NC_000001.11:g.207049048G>C	TOPMed
rs754563952	p.His342Leu	missense variant	-	NC_000001.11:g.207049042T>A	ExAC,TOPMed,gnomAD
COSM3482568	p.His342Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049042T>C	NCI-TCGA Cosmic
rs753253807	p.Thr343Pro	missense variant	-	NC_000001.11:g.207049040T>G	ExAC,TOPMed,gnomAD
rs143996234	p.Asn344Ser	missense variant	-	NC_000001.11:g.207049036T>C	ESP,ExAC,TOPMed,gnomAD
rs147110080	p.Gly346Ala	missense variant	-	NC_000001.11:g.207049030C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762445569	p.Val348Gly	missense variant	-	NC_000001.11:g.207049024A>C	ExAC,gnomAD
rs918185011	p.Val348Met	missense variant	-	NC_000001.11:g.207049025C>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0220630	Adult Liver Carcinoma	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003676	nucleic acid binding	IEA
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA
GO:0005515	protein binding	IPI
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0046872	metal ion binding	IEA
GO:0061578	Lys63-specific deubiquitinase activity	TAS
GO:0101005	ubiquitinyl hydrolase activity	TAS
GO:1990380	Lys48-specific deubiquitinase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0016236	macroautophagy	IMP
GO:0016579	protein deubiquitination	IBA
GO:0016579	protein deubiquitination	TAS
GO:0030433	ubiquitin-dependent ERAD pathway	IMP
GO:0030433	ubiquitin-dependent ERAD pathway	IBA
GO:0030968	endoplasmic reticulum unfolded protein response	IMP
GO:0030968	endoplasmic reticulum unfolded protein response	IBA
GO:0035523	protein K29-linked deubiquitination	IDA
GO:0035871	protein K11-linked deubiquitination	IDA
GO:0035871	protein K11-linked deubiquitination	IMP
GO:0070536	protein K63-linked deubiquitination	IDA
GO:0070536	protein K63-linked deubiquitination	IMP
GO:0071108	protein K48-linked deubiquitination	IDA
GO:0071108	protein K48-linked deubiquitination	IMP
GO:1904153	negative regulation of retrograde protein transport, ER to cytosol	IMP
GO:1990167	protein K27-linked deubiquitination	IDA
GO:1990168	protein K33-linked deubiquitination	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	IBA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-5688426	Deubiquitination	TAS
R-HSA-5689896	Ovarian tumor domain proteases	TAS
R-HSA-597592	Post-translational protein modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of YOD1 mRNA	28903501
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of YOD1 mRNA	19150397; 20382639;
D000082	Acetaminophen	Acetaminophen affects the expression of YOD1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of YOD1 mRNA	19770486
D016607	Aflatoxin M1	Aflatoxin M1 results in decreased expression of YOD1 mRNA	30928695
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of YOD1 mRNA	26680231
D001280	Atrazine	Atrazine results in increased expression of YOD1 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of YOD1 mRNA	20064835
C006780	bisphenol A	bisphenol A results in increased methylation of YOD1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of YOD1 mRNA	20678512
C006780	bisphenol A	bisphenol A affects the expression of YOD1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of YOD1 mRNA	30816183
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of YOD1 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of YOD1 mRNA]	31150632
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of YOD1 mRNA	20971185
D016572	Cyclosporine	Cyclosporine results in increased expression of YOD1 mRNA	25562108
D004317	Doxorubicin	Doxorubicin affects the expression of YOD1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in increased expression of YOD1 mRNA	29391264
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of YOD1 mRNA	29464035
D005485	Flutamide	Flutamide results in increased expression of YOD1 mRNA	24793618
D006046	Gold	Gold results in decreased expression of YOD1 mRNA	25523186
C000593030	GSK-J4	GSK-J4 results in increased expression of YOD1 mRNA	29301935
D007213	Indomethacin	Indomethacin results in decreased expression of YOD1 mRNA	16984733
C544151	jinfukang	jinfukang results in decreased expression of YOD1 mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in decreased expression of YOD1 mRNA	30851411
D008558	Melphalan	Melphalan results in increased expression of YOD1 mRNA	22363485
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of YOD1 mRNA	20188158
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of YOD1 mRNA	20971185
D010100	Oxygen	Oxygen deficiency results in increased expression of YOD1 mRNA	22629407
D010100	Oxygen	Oxygen inhibits the reaction [Oxygen deficiency results in increased expression of YOD1 mRNA]	22629407
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of YOD1 mRNA	23892564
D010426	Pentosan Sulfuric Polyester	Pentosan Sulfuric Polyester results in increased expression of YOD1 mRNA	28973697
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of YOD1 mRNA	27153767
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of YOD1 mRNA	23978341
D010634	Phenobarbital	Phenobarbital results in increased expression of YOD1 mRNA	19270015
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of YOD1 mRNA	19710929
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of YOD1 mRNA]	31150632
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of YOD1 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of YOD1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in decreased expression of YOD1 mRNA	25975270
C009495	titanium dioxide	titanium dioxide results in decreased expression of YOD1 mRNA	29264374
C012589	trichostatin A	trichostatin A results in decreased expression of YOD1 mRNA	24935251
D014520	Urethane	Urethane results in increased expression of YOD1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in decreased expression of YOD1 mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid affects the expression of YOD1 mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of YOD1 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0378	Hydrolase
KW-0479	Metal-binding
KW-0645	Protease
KW-1185	Reference proteome
KW-0788	Thiol protease
KW-0833	Ubl conjugation pathway
KW-0834	Unfolded protein response
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR039138	OTU1_2_3
IPR003323	OTU_dom
IPR038765	Papain-like_cys_pep_sf
IPR029071	Ubiquitin-like_domsf
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS50802	OTU
PS00028	ZINC_FINGER_C2H2_1

Pfam

Pfam ID	Pfam Term
PF02338	OTU

Gene: YOD1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction