ExonSkipAD: 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	20200322
	UniProtAcc	A0A024R5S4, A0A075B720, H0YKV1, H0YLH2, H0YLS3, H0YM17, H0YM47, H0YNL5, P40818, Q05CD9, Q05DF5,
	Context

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

Gene structures and expression levels for USP8

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000138592

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
STG	UP	ENST00000528778.1	DUSP8-203:lncRNA:DUSP8	6.893750e+00	2.923506e+00	4.558707e-05	7.078515e-03
CB	UP	ENST00000558892.1	USP8-206:lncRNA:USP8	8.040020e+00	1.095412e+00	5.246838e-03	2.047710e-02
CB	UP	ENST00000559242.5	USP8-207:nonsense_mediated_decay:USP8	5.215339e+00	8.261035e-01	1.370238e-02	4.482428e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for USP8

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_103232	chr15	50439043:50439177:50441349:50441493:50459000:50459134	50441349:50441493
exon_skip_103449	chr15	50481481:50482065:50484275:50484361:50489801:50489881	50484275:50484361
exon_skip_135590	chr15	50471633:50471795:50476849:50476993:50477276:50477499	50476849:50476993
exon_skip_143838	chr15	50424405:50424654:50439009:50439177:50449400:50449485	50439009:50439177
exon_skip_16176	chr15	50439043:50439177:50441349:50441493:50459000:50459070	50441349:50441493
exon_skip_183214	chr15	50441349:50441493:50449400:50449485:50459000:50459134	50449400:50449485
exon_skip_201673	chr15	50449400:50449485:50459000:50459162:50462280:50462322	50459000:50459162
exon_skip_203926	chr15	50494070:50494280:50495848:50496084:50497089:50497231	50495848:50496084
exon_skip_206809	chr15	50449400:50449485:50459000:50459162:50462280:50462305	50459000:50459162
exon_skip_260315	chr15	50481751:50482065:50484275:50484361:50489801:50489881	50484275:50484361
exon_skip_263759	chr15	50439043:50439177:50441349:50441493:50449400:50449440	50441349:50441493
exon_skip_271195	chr15	50477276:50477499:50481481:50482065:50484275:50484361	50481481:50482065
exon_skip_282615	chr15	50477276:50477499:50481481:50482065:50489801:50489881	50481481:50482065
exon_skip_289196	chr15	50424596:50424654:50432338:50432499:50439009:50439177	50432338:50432499
exon_skip_291145	chr15	50424448:50424514:50424596:50424654:50439009:50439177	50424596:50424654
exon_skip_54306	chr15	50441349:50441493:50449400:50449485:50459000:50459070	50449400:50449485
exon_skip_55531	chr15	50439043:50439177:50449400:50449485:50459000:50459070	50449400:50449485
exon_skip_82632	chr15	50439009:50439177:50449400:50449485:50459000:50459162	50449400:50449485
exon_skip_83476	chr15	50490263:50490525:50492701:50492913:50494070:50494280	50492701:50492913
exon_skip_89019	chr15	50471633:50471795:50476849:50476997:50477276:50477499	50476849:50476997

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

Top

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

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000307179	50441349	50441493	Frame-shift
ENST00000396444	50441349	50441493	Frame-shift
ENST00000307179	50449400	50449485	Frame-shift
ENST00000396444	50449400	50449485	Frame-shift
ENST00000307179	50459000	50459162	Frame-shift
ENST00000396444	50459000	50459162	Frame-shift
ENST00000307179	50484275	50484361	In-frame
ENST00000396444	50484275	50484361	In-frame
ENST00000307179	50492701	50492913	In-frame
ENST00000396444	50492701	50492913	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000307179	50441349	50441493	Frame-shift
ENST00000396444	50441349	50441493	Frame-shift
ENST00000307179	50449400	50449485	Frame-shift
ENST00000396444	50449400	50449485	Frame-shift
ENST00000307179	50481481	50482065	In-frame
ENST00000396444	50481481	50482065	In-frame
ENST00000307179	50484275	50484361	In-frame
ENST00000396444	50484275	50484361	In-frame
ENST00000307179	50495848	50496084	In-frame
ENST00000396444	50495848	50496084	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000307179	50441349	50441493	Frame-shift
ENST00000396444	50441349	50441493	Frame-shift
ENST00000307179	50449400	50449485	Frame-shift
ENST00000396444	50449400	50449485	Frame-shift
ENST00000307179	50459000	50459162	Frame-shift
ENST00000396444	50459000	50459162	Frame-shift
ENST00000307179	50476849	50476993	Frame-shift
ENST00000396444	50476849	50476993	Frame-shift
ENST00000307179	50484275	50484361	In-frame
ENST00000396444	50484275	50484361	In-frame
ENST00000307179	50492701	50492913	In-frame
ENST00000396444	50492701	50492913	In-frame
ENST00000307179	50495848	50496084	In-frame
ENST00000396444	50495848	50496084	In-frame

Top

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

p-ENSG00000138592_img4.png
boxplot

Loci of skipped exons in ROSMAP 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	50484275	50484361	2003	2088	601	630
ENST00000396444	19043	1118	50484275	50484361	2143	2228	601	630
ENST00000307179	4260	1118	50492701	50492913	2434	2645	745	815
ENST00000396444	19043	1118	50492701	50492913	2574	2785	745	815

Loci of skipped exons in MSBB 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	50481481	50482065	1418	2001	406	601
ENST00000396444	19043	1118	50481481	50482065	1558	2141	406	601
ENST00000307179	4260	1118	50484275	50484361	2003	2088	601	630
ENST00000396444	19043	1118	50484275	50484361	2143	2228	601	630
ENST00000307179	4260	1118	50495848	50496084	2858	3093	886	965
ENST00000396444	19043	1118	50495848	50496084	2998	3233	886	965

Loci of skipped exons in Mayo 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	50484275	50484361	2003	2088	601	630
ENST00000396444	19043	1118	50484275	50484361	2143	2228	601	630
ENST00000307179	4260	1118	50492701	50492913	2434	2645	745	815
ENST00000396444	19043	1118	50492701	50492913	2574	2785	745	815
ENST00000307179	4260	1118	50495848	50496084	2858	3093	886	965
ENST00000396444	19043	1118	50495848	50496084	2998	3233	886	965

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

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	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

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

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	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 Mayo.

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	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

3'-UTR located exon skipping events that lost miRNA binding sites in USP8

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

Top

SNVs in the skipped exons for USP8

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

Top

AD stage-associated exon skippint events for USP8

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

Top

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

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
HCC	exon_skip_103449	rs41444349	chr15:50441781	4.196716e-15	2.966735e-12
HCC	exon_skip_103449	rs16963739	chr15:50493827	3.495128e-14	2.151697e-11
HCC	exon_skip_103449	rs11070790	chr15:50546821	2.055737e-08	4.730217e-06
HCC	exon_skip_103449	rs8023464	chr15:50579877	2.055737e-08	4.730217e-06
HCC	exon_skip_103449	rs4380013	chr15:50467231	1.796839e-05	2.105688e-03
PCC	exon_skip_103449	rs16963739	chr15:50493827	2.920241e-05	6.358974e-03
DLPFC	exon_skip_103449	rs41444349	chr15:50441781	3.875044e-08	8.001223e-06
DLPFC	exon_skip_103449	rs4380013	chr15:50467231	3.633182e-07	5.949976e-05
DLPFC	exon_skip_103449	rs16963739	chr15:50493827	5.920856e-07	9.174745e-05

Top

Correlation with RNA binding proteins (RBPs) for USP8

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TRA2A	exon_skip_263759	-5.660384e-01	2.583042e-13
CB	NUP42	exon_skip_263759	4.013540e-01	8.123255e-07
CB	NUP42	exon_skip_103449	4.941286e-01	8.527652e-11
IFG	LIN28A	exon_skip_81438	4.897122e-01	9.521141e-03
STG	MATR3	exon_skip_263759	4.499621e-01	3.176535e-05
TC	NUP42	exon_skip_260315	4.188592e-01	4.322551e-08

Top

RelatedDrugs for USP8

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

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

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for USP8

Gene structures and expression levels for USP8

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for USP8

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

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

3'-UTR located exon skipping events that lost miRNA binding sites in USP8

SNVs in the skipped exons for USP8

AD stage-associated exon skippint events for USP8

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

Correlation with RNA binding proteins (RBPs) for USP8

RelatedDrugs for USP8

RelatedDiseases for USP8