ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for USP8

Gene summary

Gene information	Gene symbol	USP8
	Gene ID	9101
	Gene name	ubiquitin specific peptidase 8
	Synonyms	HumORF8\|PITA4\|SPG59\|UBPY
	Cytomap	15q21.2
	Type of gene	protein-coding
	Description	ubiquitin carboxyl-terminal hydrolase 8deubiquitinating enzyme 8ubiquitin isopeptidase Yubiquitin thiolesterase 8ubiquitin-specific-processing protease 8
	Modification date	20180527
	UniProtAcc	P40818
	Context	PubMed: USP8 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
USP8	GO:0070536	protein K63-linked deubiquitination	16520378
USP8	GO:0071108	protein K48-linked deubiquitination	16520378

Top

Exon skipping events across known transcript of Ensembl for USP8 from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

Gene isoform structures and expression levels for USP8

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for USP8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_122062	15	50716690:50716711:50716792:50716851:50731205:50731374	50716792:50716851	ENSG00000138592.9	ENST00000560982.1
exon_skip_122066	15	50716690:50716711:50731205:50731374:50741596:50741637	50731205:50731374	ENSG00000138592.9	ENST00000561211.1
exon_skip_122068	15	50716792:50716851:50724534:50724696:50731205:50731374	50724534:50724696	ENSG00000138592.9	ENST00000433963.1,ENST00000559329.1
exon_skip_122072	15	50731239:50731374:50733545:50733690:50741596:50741637	50733545:50733690	ENSG00000138592.9	ENST00000433963.1,ENST00000559329.1,ENST00000561330.1,ENST00000560730.1,ENST00000558091.1,ENST00000396444.3,ENST00000560297.1,ENST00000307179.4
exon_skip_122073	15	50731239:50731374:50733545:50733690:50751196:50751267	50733545:50733690	ENSG00000138592.9	ENST00000560954.1
exon_skip_122074	15	50731239:50731374:50741596:50741682:50751196:50751267	50741596:50741682	ENSG00000138592.9	ENST00000561211.1,ENST00000559242.1
exon_skip_122076	15	50733545:50733690:50741596:50741682:50751196:50751267	50741596:50741682	ENSG00000138592.9	ENST00000433963.1,ENST00000559329.1,ENST00000558091.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122079	15	50741596:50741682:50751196:50751359:50754476:50754502	50751196:50751359	ENSG00000138592.9	ENST00000433963.1,ENST00000561211.1,ENST00000559329.1,ENST00000560885.1,ENST00000559242.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122081	15	50741596:50741682:50754476:50754519:50757243:50757370	50754476:50754519	ENSG00000138592.9	ENST00000560730.1
exon_skip_122086	15	50754476:50754519:50757243:50757388:50763829:50763932	50757243:50757388	ENSG00000138592.9	ENST00000433963.1,ENST00000425032.3,ENST00000559329.1,ENST00000560527.1,ENST00000560730.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122089	15	50757243:50757388:50763829:50763992:50769045:50769190	50763829:50763992	ENSG00000138592.9	ENST00000433963.1,ENST00000425032.3,ENST00000559329.1,ENST00000560730.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122091	15	50763829:50763992:50769045:50769190:50769472:50769696	50769045:50769190	ENSG00000138592.9	ENST00000433963.1,ENST00000425032.3,ENST00000559329.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122092	15	50763829:50763992:50769045:50769194:50769472:50769696	50769045:50769194	ENSG00000138592.9	ENST00000560730.1
exon_skip_122094	15	50769472:50769696:50773677:50774262:50776471:50776558	50773677:50774262	ENSG00000138592.9	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122095	15	50769472:50769696:50773677:50774262:50781997:50782078	50773677:50774262	ENSG00000138592.9	ENST00000425032.3
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENSG00000138592.9	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4
exon_skip_122101	15	50782459:50782722:50784897:50785110:50786266:50786477	50784897:50785110	ENSG00000138592.9	ENST00000433963.1,ENST00000425032.3,ENST00000396444.3,ENST00000307179.4
exon_skip_122103	15	50786266:50786477:50788044:50788281:50789285:50789428	50788044:50788281	ENSG00000138592.9	ENST00000433963.1,ENST00000425032.3,ENST00000419830.2,ENST00000396444.3,ENST00000307179.4
exon_skip_122105	15	50789285:50789428:50790792:50790925:50791099:50791604	50790792:50790925	ENSG00000138592.9	ENST00000433963.1,ENST00000425032.3,ENST00000419830.2,ENST00000396444.3,ENST00000307179.4

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for USP8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_122062	15	50716690:50716711:50716792:50716851:50731205:50731374	50716792:50716851	ENSG00000138592.9	ENST00000560982.1
exon_skip_122066	15	50716690:50716711:50731205:50731374:50741596:50741637	50731205:50731374	ENSG00000138592.9	ENST00000561211.1
exon_skip_122068	15	50716792:50716851:50724534:50724696:50731205:50731374	50724534:50724696	ENSG00000138592.9	ENST00000433963.1,ENST00000559329.1
exon_skip_122072	15	50731239:50731374:50733545:50733690:50741596:50741637	50733545:50733690	ENSG00000138592.9	ENST00000560297.1,ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000559329.1,ENST00000560730.1,ENST00000558091.1,ENST00000561330.1
exon_skip_122073	15	50731239:50731374:50733545:50733690:50751196:50751267	50733545:50733690	ENSG00000138592.9	ENST00000560954.1
exon_skip_122074	15	50731239:50731374:50741596:50741682:50751196:50751267	50741596:50741682	ENSG00000138592.9	ENST00000561211.1,ENST00000559242.1
exon_skip_122076	15	50733545:50733690:50741596:50741682:50751196:50751267	50741596:50741682	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000559329.1,ENST00000558091.1
exon_skip_122079	15	50741596:50741682:50751196:50751359:50754476:50754502	50751196:50751359	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000560885.1,ENST00000559329.1,ENST00000561211.1,ENST00000559242.1
exon_skip_122081	15	50741596:50741682:50754476:50754519:50757243:50757370	50754476:50754519	ENSG00000138592.9	ENST00000560730.1
exon_skip_122086	15	50754476:50754519:50757243:50757388:50763829:50763932	50757243:50757388	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000425032.3,ENST00000559329.1,ENST00000560730.1,ENST00000560527.1
exon_skip_122089	15	50757243:50757388:50763829:50763992:50769045:50769190	50763829:50763992	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000425032.3,ENST00000559329.1,ENST00000560730.1
exon_skip_122091	15	50763829:50763992:50769045:50769190:50769472:50769696	50769045:50769190	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000425032.3,ENST00000559329.1
exon_skip_122092	15	50763829:50763992:50769045:50769194:50769472:50769696	50769045:50769194	ENSG00000138592.9	ENST00000560730.1
exon_skip_122094	15	50769472:50769696:50773677:50774262:50776471:50776558	50773677:50774262	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1
exon_skip_122095	15	50769472:50769696:50773677:50774262:50781997:50782078	50773677:50774262	ENSG00000138592.9	ENST00000425032.3
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1
exon_skip_122101	15	50782459:50782722:50784897:50785110:50786266:50786477	50784897:50785110	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000425032.3
exon_skip_122103	15	50786266:50786477:50788044:50788281:50789285:50789428	50788044:50788281	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000425032.3,ENST00000419830.2
exon_skip_122105	15	50789285:50789428:50790792:50790925:50791099:50791604	50790792:50790925	ENSG00000138592.9	ENST00000307179.4,ENST00000396444.3,ENST00000433963.1,ENST00000425032.3,ENST00000419830.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for USP8

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000307179	50733545	50733690	Frame-shift
ENST00000396444	50733545	50733690	Frame-shift
ENST00000307179	50741596	50741682	Frame-shift
ENST00000396444	50741596	50741682	Frame-shift
ENST00000307179	50751196	50751359	Frame-shift
ENST00000396444	50751196	50751359	Frame-shift
ENST00000307179	50757243	50757388	Frame-shift
ENST00000396444	50757243	50757388	Frame-shift
ENST00000307179	50763829	50763992	Frame-shift
ENST00000396444	50763829	50763992	Frame-shift
ENST00000307179	50769045	50769190	Frame-shift
ENST00000396444	50769045	50769190	Frame-shift
ENST00000307179	50790792	50790925	Frame-shift
ENST00000396444	50790792	50790925	Frame-shift
ENST00000307179	50773677	50774262	In-frame
ENST00000396444	50773677	50774262	In-frame
ENST00000307179	50776471	50776558	In-frame
ENST00000396444	50776471	50776558	In-frame
ENST00000307179	50784897	50785110	In-frame
ENST00000396444	50784897	50785110	In-frame
ENST00000307179	50788044	50788281	In-frame
ENST00000396444	50788044	50788281	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000307179	50733545	50733690	Frame-shift
ENST00000396444	50733545	50733690	Frame-shift
ENST00000307179	50741596	50741682	Frame-shift
ENST00000396444	50741596	50741682	Frame-shift
ENST00000307179	50751196	50751359	Frame-shift
ENST00000396444	50751196	50751359	Frame-shift
ENST00000307179	50757243	50757388	Frame-shift
ENST00000396444	50757243	50757388	Frame-shift
ENST00000307179	50763829	50763992	Frame-shift
ENST00000396444	50763829	50763992	Frame-shift
ENST00000307179	50769045	50769190	Frame-shift
ENST00000396444	50769045	50769190	Frame-shift
ENST00000307179	50790792	50790925	Frame-shift
ENST00000396444	50790792	50790925	Frame-shift
ENST00000307179	50773677	50774262	In-frame
ENST00000396444	50773677	50774262	In-frame
ENST00000307179	50776471	50776558	In-frame
ENST00000396444	50776471	50776558	In-frame
ENST00000307179	50784897	50785110	In-frame
ENST00000396444	50784897	50785110	In-frame
ENST00000307179	50788044	50788281	In-frame
ENST00000396444	50788044	50788281	In-frame

Top

Infer the effects of exon skipping event on protein functional features for USP8

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000307179	4260	1118	50773677	50774262	1417	2001	406	601
ENST00000396444	5707	1118	50773677	50774262	1557	2141	406	601
ENST00000307179	4260	1118	50776471	50776558	2002	2088	601	630
ENST00000396444	5707	1118	50776471	50776558	2142	2228	601	630
ENST00000307179	4260	1118	50784897	50785110	2433	2645	745	815
ENST00000396444	5707	1118	50784897	50785110	2573	2785	745	815
ENST00000307179	4260	1118	50788044	50788281	2857	3093	886	965
ENST00000396444	5707	1118	50788044	50788281	2997	3233	886	965

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000307179	4260	1118	50773677	50774262	1417	2001	406	601
ENST00000396444	5707	1118	50773677	50774262	1557	2141	406	601
ENST00000307179	4260	1118	50776471	50776558	2002	2088	601	630
ENST00000396444	5707	1118	50776471	50776558	2142	2228	601	630
ENST00000307179	4260	1118	50784897	50785110	2433	2645	745	815
ENST00000396444	5707	1118	50784897	50785110	2573	2785	745	815
ENST00000307179	4260	1118	50788044	50788281	2857	3093	886	965
ENST00000396444	5707	1118	50788044	50788281	2997	3233	886	965

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P40818	406	601	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	406	601	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	406	601	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	406	601	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	406	601	452	452	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P40818	406	601	452	452	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P40818	406	601	577	577	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P40818	406	601	577	577	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P40818	406	601	405	413	Motif	Note=SH3-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
P40818	406	601	405	413	Motif	Note=SH3-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
P40818	406	601	443	443	Natural variant	ID=VAR_017796;Note=D->G;Dbxref=dbSNP:rs3743044
P40818	406	601	443	443	Natural variant	ID=VAR_017796;Note=D->G;Dbxref=dbSNP:rs3743044
P40818	406	601	526	526	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	406	601	526	526	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	601	630	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	601	630	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	601	630	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	601	630	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	745	815	786	786	Active site	Note=Nucleophile;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU10092,ECO:0000255\|PROSITE-ProRule:PRU10093
P40818	745	815	786	786	Active site	Note=Nucleophile;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU10092,ECO:0000255\|PROSITE-ProRule:PRU10093
P40818	745	815	782	784	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	782	784	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	745	815	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	745	815	777	1109	Domain	Note=USP
P40818	745	815	777	1109	Domain	Note=USP
P40818	745	815	763	765	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	763	765	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	786	796	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	786	796	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	799	806	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	799	806	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	810	813	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	810	813	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	786	786	Mutagenesis	Note=Impairs deubiquitination activity and leads to endosome membrane accumulation. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16520378;Dbxref=PMID:16520378
P40818	745	815	786	786	Mutagenesis	Note=Impairs deubiquitination activity and leads to endosome membrane accumulation. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16520378;Dbxref=PMID:16520378
P40818	745	815	807	809	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	807	809	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	928	936	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	928	936	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	942	954	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	942	954	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	959	963	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	959	963	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	886	965	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	886	965	777	1109	Domain	Note=USP
P40818	886	965	777	1109	Domain	Note=USP
P40818	886	965	903	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	903	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	921	926	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	921	926	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	964	971	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	964	971	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	945	945	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80U87
P40818	886	965	945	945	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80U87
P40818	886	965	945	945	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	886	965	945	945	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	886	965	937	939	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	937	939	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.	Start of exon skipping (AA)	End of exon skipping (AA)	Protein feature start (AA)	Protein feature end (AA)	Category of protein feature	Description of feature
P40818	406	601	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	406	601	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	406	601	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	406	601	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	406	601	452	452	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P40818	406	601	452	452	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
P40818	406	601	577	577	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P40818	406	601	577	577	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P40818	406	601	405	413	Motif	Note=SH3-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
P40818	406	601	405	413	Motif	Note=SH3-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
P40818	406	601	443	443	Natural variant	ID=VAR_017796;Note=D->G;Dbxref=dbSNP:rs3743044
P40818	406	601	443	443	Natural variant	ID=VAR_017796;Note=D->G;Dbxref=dbSNP:rs3743044
P40818	406	601	526	526	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	406	601	526	526	Sequence conflict	Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	601	630	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	601	630	601	629	Alternative sequence	ID=VSP_054595;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P40818	601	630	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	601	630	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	745	815	786	786	Active site	Note=Nucleophile;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU10092,ECO:0000255\|PROSITE-ProRule:PRU10093
P40818	745	815	786	786	Active site	Note=Nucleophile;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU10092,ECO:0000255\|PROSITE-ProRule:PRU10093
P40818	745	815	782	784	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	782	784	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	745	815	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	745	815	777	1109	Domain	Note=USP
P40818	745	815	777	1109	Domain	Note=USP
P40818	745	815	763	765	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	763	765	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	786	796	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	786	796	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	799	806	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	799	806	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	810	813	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	810	813	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	786	786	Mutagenesis	Note=Impairs deubiquitination activity and leads to endosome membrane accumulation. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16520378;Dbxref=PMID:16520378
P40818	745	815	786	786	Mutagenesis	Note=Impairs deubiquitination activity and leads to endosome membrane accumulation. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16520378;Dbxref=PMID:16520378
P40818	745	815	807	809	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	745	815	807	809	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	928	936	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	928	936	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	942	954	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	942	954	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	959	963	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	959	963	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	886	965	1	1118	Chain	ID=PRO_0000080627;Note=Ubiquitin carboxyl-terminal hydrolase 8
P40818	886	965	777	1109	Domain	Note=USP
P40818	886	965	777	1109	Domain	Note=USP
P40818	886	965	903	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	903	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	921	926	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	921	926	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	964	971	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	964	971	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	945	945	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80U87
P40818	886	965	945	945	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q80U87
P40818	886	965	945	945	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	886	965	945	945	Sequence conflict	Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40818	886	965	937	939	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO
P40818	886	965	937	939	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2GFO

Top

SNVs in the skipped exons for USP8

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
STAD	TCGA-BR-6452-01	exon_skip_122073 exon_skip_122072	50733546	50733690	50733661	50733661	Frame_Shift_Del	A	-	p.I73fs
STAD	TCGA-BR-8382-01	exon_skip_122073 exon_skip_122072	50733546	50733690	50733661	50733661	Frame_Shift_Del	A	-	p.I73fs
STAD	TCGA-BR-8382-01	exon_skip_122073 exon_skip_122072	50733546	50733690	50733661	50733661	Frame_Shift_Del	A	-	p.K74fs
LIHC	TCGA-DD-A3A0-01	exon_skip_122076 exon_skip_122074	50741597	50741682	50741599	50741599	Frame_Shift_Del	T	-	p.D84fs
LIHC	TCGA-DD-A3A0-01	exon_skip_122076 exon_skip_122074	50741597	50741682	50741633	50741633	Frame_Shift_Del	A	-	p.K97fs
PAAD	TCGA-2J-AABO-01	exon_skip_122076 exon_skip_122074	50741597	50741682	50741645	50741645	Frame_Shift_Del	G	-	p.E101fs
PAAD	TCGA-2J-AABO-01	exon_skip_122076 exon_skip_122074	50741597	50741682	50741645	50741645	Frame_Shift_Del	G	-	p.V99fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_122079	50751197	50751359	50751268	50751268	Frame_Shift_Del	A	-	p.Q136fs
LIHC	TCGA-DD-A39Y-01	exon_skip_122086	50757244	50757388	50757281	50757281	Frame_Shift_Del	G	-	p.T193fs
LIHC	TCGA-DD-A3A0-01	exon_skip_122086	50757244	50757388	50757285	50757285	Frame_Shift_Del	A	-	p.K195fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_122086	50757244	50757388	50757285	50757285	Frame_Shift_Del	A	-	p.K195fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_122095 exon_skip_122094	50773678	50774262	50773808	50773808	Frame_Shift_Del	T	-	p.V450fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_122095 exon_skip_122094	50773678	50774262	50774112	50774112	Frame_Shift_Del	A	-	p.V551fs
ESCA	TCGA-Z6-A9VB-01	exon_skip_122095 exon_skip_122094	50773678	50774262	50774176	50774176	Frame_Shift_Del	A	-	p.R574fs
COAD	TCGA-AD-6889-01	exon_skip_122073 exon_skip_122072	50733546	50733690	50733660	50733661	Frame_Shift_Ins	-	A	p.I73fs
STAD	TCGA-BR-8487-01	exon_skip_122089	50763830	50763992	50763891	50763892	Frame_Shift_Ins	-	G	p.R250fs
STAD	TCGA-BR-8487-01	exon_skip_122089	50763830	50763992	50763892	50763893	Frame_Shift_Ins	-	G	p.R250fs
STAD	TCGA-BR-6802-01	exon_skip_122095 exon_skip_122094	50773678	50774262	50773879	50773880	Frame_Shift_Ins	-	A	p.E474fs
UCEC	TCGA-B5-A0JY-01	exon_skip_122066	50731206	50731374	50731298	50731298	Nonsense_Mutation	G	T	p.E10*
SKCM	TCGA-D3-A2JL-06	exon_skip_122073 exon_skip_122072	50733546	50733690	50733667	50733667	Nonsense_Mutation	A	T	p.R76*
LUSC	TCGA-18-3409-01	exon_skip_122091	50769046	50769190	50769124	50769124	Nonsense_Mutation	C	T	p.Q310*
LUSC	TCGA-18-3409-01	exon_skip_122092	50769046	50769194	50769124	50769124	Nonsense_Mutation	C	T	p.Q310*
COAD	TCGA-D5-6540-01	exon_skip_122095 exon_skip_122094	50773678	50774262	50773954	50773954	Nonsense_Mutation	C	T	p.Q499X
LUAD	TCGA-44-8119-01	exon_skip_122095 exon_skip_122094	50773678	50774262	50774206	50774206	Nonsense_Mutation	A	T	p.K583*
UCEC	TCGA-BS-A0UV-01	exon_skip_122103	50788045	50788281	50788072	50788072	Nonsense_Mutation	G	T	p.E896*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
CA922_UPPER_AERODIGESTIVE_TRACT	50731206	50731374	50731366	50731367	Frame_Shift_Del	CA	-	p.T33fs
TOV21G_OVARY	50733546	50733690	50733661	50733661	Frame_Shift_Del	A	-	p.K75fs
NCIH630_LARGE_INTESTINE	50733546	50733690	50733661	50733661	Frame_Shift_Del	A	-	p.K75fs
SNU1040_LARGE_INTESTINE	50757244	50757388	50757346	50757346	Frame_Shift_Del	T	-	p.I215fs
SNUC4_LARGE_INTESTINE	50773678	50774262	50773880	50773880	Frame_Shift_Del	A	-	p.E474fs
LNCAPCLONEFGC_PROSTATE	50733546	50733690	50733660	50733661	Frame_Shift_Ins	-	A	p.K74fs
KM12_LARGE_INTESTINE	50733546	50733690	50733660	50733661	Frame_Shift_Ins	-	A	p.K74fs
HEC108_ENDOMETRIUM	50788045	50788281	50788159	50788160	Frame_Shift_Ins	-	T	p.L925fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50731206	50731374	50731278	50731278	Missense_Mutation	C	T	p.A3V
HT29_LARGE_INTESTINE	50731206	50731374	50731287	50731287	Missense_Mutation	C	T	p.S6L
LS513_LARGE_INTESTINE	50731206	50731374	50731287	50731287	Missense_Mutation	C	T	p.S6L
MELHO_SKIN	50731206	50731374	50731287	50731287	Missense_Mutation	C	T	p.S6L
SNU81_LARGE_INTESTINE	50733546	50733690	50733571	50733571	Missense_Mutation	T	G	p.F44V
LB647SCLC_LUNG	50733546	50733690	50733601	50733601	Missense_Mutation	C	T	p.R54C
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50733546	50733690	50733659	50733659	Missense_Mutation	T	C	p.I73T
JHUEM1_ENDOMETRIUM	50751197	50751359	50751217	50751217	Missense_Mutation	G	T	p.R119L
HO1N1_UPPER_AERODIGESTIVE_TRACT	50751197	50751359	50751336	50751336	Missense_Mutation	G	C	p.D159H
HS766T_PANCREAS	50751197	50751359	50751342	50751342	Missense_Mutation	A	G	p.K161E
OSRC2_KIDNEY	50751197	50751359	50751355	50751355	Missense_Mutation	A	T	p.Q165L
MESSA_SOFT_TISSUE	50757244	50757388	50757273	50757273	Missense_Mutation	A	G	p.M191V
NCIH1648_LUNG	50757244	50757388	50757300	50757300	Missense_Mutation	A	C	p.I200L
HT115_LARGE_INTESTINE	50757244	50757388	50757355	50757355	Missense_Mutation	C	T	p.S218F
HEC6_ENDOMETRIUM	50757244	50757388	50757367	50757367	Missense_Mutation	C	A	p.P222H
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50763830	50763992	50763909	50763909	Missense_Mutation	G	A	p.V256M
SNU878_LIVER	50769046	50769190	50769067	50769067	Missense_Mutation	C	T	p.R291C
SNU878_LIVER	50769046	50769194	50769067	50769067	Missense_Mutation	C	T	p.R291C
BICR18_UPPER_AERODIGESTIVE_TRACT	50769046	50769190	50769070	50769070	Missense_Mutation	A	C	p.N292H
BICR18_UPPER_AERODIGESTIVE_TRACT	50769046	50769194	50769070	50769070	Missense_Mutation	A	C	p.N292H
NCIH2004RT_SOFT_TISSUE	50769046	50769190	50769148	50769148	Missense_Mutation	A	G	p.T318A
NCIH2004RT_SOFT_TISSUE	50769046	50769194	50769148	50769148	Missense_Mutation	A	G	p.T318A
NCIH630_LARGE_INTESTINE	50769046	50769190	50769163	50769163	Missense_Mutation	C	T	p.R323C
NCIH630_LARGE_INTESTINE	50769046	50769194	50769163	50769163	Missense_Mutation	C	T	p.R323C
HEC251_ENDOMETRIUM	50773678	50774262	50773685	50773685	Missense_Mutation	G	A	p.R409H
OVMIU_OVARY	50773678	50774262	50773742	50773742	Missense_Mutation	C	G	p.T428R
HT1376_URINARY_TRACT	50773678	50774262	50773814	50773814	Missense_Mutation	C	A	p.S452Y
BT549_BREAST	50773678	50774262	50773849	50773849	Missense_Mutation	C	T	p.R464C
KPNRTBM1_AUTONOMIC_GANGLIA	50773678	50774262	50774090	50774090	Missense_Mutation	G	C	p.R544T
HEC251_ENDOMETRIUM	50773678	50774262	50774224	50774224	Missense_Mutation	C	T	p.P589S
SW684_SOFT_TISSUE	50773678	50774262	50774255	50774255	Missense_Mutation	C	T	p.S599L
HEC251_ENDOMETRIUM	50776472	50776558	50776508	50776508	Missense_Mutation	C	A	p.L614I
SNU81_LARGE_INTESTINE	50776472	50776558	50776520	50776520	Missense_Mutation	A	C	p.T618P
NUGC4_STOMACH	50788045	50788281	50788076	50788076	Missense_Mutation	A	T	p.N897I
JHUEM7_ENDOMETRIUM	50788045	50788281	50788077	50788077	Missense_Mutation	T	G	p.N897K
HEC108_ENDOMETRIUM	50788045	50788281	50788133	50788133	Missense_Mutation	A	G	p.Q916R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	50788045	50788281	50788216	50788216	Missense_Mutation	A	G	p.R944G
LS411N_LARGE_INTESTINE	50788045	50788281	50788249	50788249	Missense_Mutation	C	T	p.P955S
SNU1040_LARGE_INTESTINE	50790793	50790925	50790807	50790807	Missense_Mutation	G	A	p.G1018D
HCT15_LARGE_INTESTINE	50790793	50790925	50790873	50790873	Missense_Mutation	A	G	p.Y1040C
LB996RCC_KIDNEY	50790793	50790925	50790908	50790908	Missense_Mutation	A	G	p.N1052D
MRKNU1_BREAST	50741597	50741682	50741610	50741610	Nonsense_Mutation	C	G	p.S88*
JHUEM7_ENDOMETRIUM	50757244	50757388	50757315	50757315	Nonsense_Mutation	C	T	p.R205*
TOV21G_OVARY	50784898	50785110	50785082	50785082	Nonsense_Mutation	C	T	p.R807*
PANC1_PANCREAS	50773678	50774262	50774262	50774262	Splice_Site	G	C	p.K601N
KP1N_PANCREAS	50773678	50774262	50774262	50774262	Splice_Site	G	C	p.K601N

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP8

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_122066	15	50716690:50716711:50731205:50731374:50741596:50741637	50731205:50731374	ENST00000561211.1	LGG	rs11632697	chr15:50731213	G/C	1.28e-10
exon_skip_122066	15	50716690:50716711:50731205:50731374:50741596:50741637	50731205:50731374	ENST00000561211.1	KIRC	rs11632697	chr15:50731213	G/C	8.85e-06
exon_skip_122066	15	50716690:50716711:50731205:50731374:50741596:50741637	50731205:50731374	ENST00000561211.1	LUAD	rs11632697	chr15:50731213	G/C	7.27e-07
exon_skip_122066	15	50716690:50716711:50731205:50731374:50741596:50741637	50731205:50731374	ENST00000561211.1	LUSC	rs11632697	chr15:50731213	G/C	9.28e-09
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	CESC	rs10220843	chr15:50776525	T/C	1.94e-06
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	KIRP	rs10220843	chr15:50776525	T/C	4.09e-11
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	KIRC	rs10220843	chr15:50776525	T/C	1.14e-30
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	LUAD	rs10220843	chr15:50776525	T/C	4.90e-26
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	READ	rs10220843	chr15:50776525	T/C	2.87e-07
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	PCPG	rs10220843	chr15:50776525	T/C	8.10e-06
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	PRAD	rs10220843	chr15:50776525	T/C	4.39e-26
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	SARC	rs10220843	chr15:50776525	T/C	1.51e-09
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	THCA	rs10220843	chr15:50776525	T/C	9.47e-25
exon_skip_122098	15	50773677:50774262:50776471:50776558:50781997:50782078	50776471:50776558	ENST00000433963.1,ENST00000396444.3,ENST00000307179.4	UCEC	rs10220843	chr15:50776525	T/C	7.27e-07

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP8

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP8

Top

RelatedDrugs for USP8

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for USP8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
USP8	C0221406	Pituitary-dependent Cushing's disease	1	CTD_human;ORPHANET
USP8	C1306214	ACTH-Secreting Pituitary Adenoma	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact