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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for USP28 |
 Gene summary |
| Gene information | Gene symbol | USP28 | Gene ID | 57646 |
| Gene name | ubiquitin specific peptidase 28 | |
| Synonyms | - | |
| Cytomap | 11q23.2 | |
| Type of gene | protein-coding | |
| Description | ubiquitin carboxyl-terminal hydrolase 28deubiquitinating enzyme 28ubiquitin carboxyl-terminal hydrolase 28 variant 1ubiquitin thioesterase 28ubiquitin thiolesterase 28ubiquitin-specific-processing protease 28 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96RU2 | |
| Context | PubMed: USP28 [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 |
| USP28 | GO:0006974 | cellular response to DNA damage stimulus | 17873522 |
| USP28 | GO:0010212 | response to ionizing radiation | 16901786 |
| USP28 | GO:0016579 | protein deubiquitination | 16901786|17558397|18662541 |
| USP28 | GO:0034644 | cellular response to UV | 17873522 |
| USP28 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 16901786 |
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Exon skipping events across known transcript of Ensembl for USP28 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. |
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Gene isoform structures and expression levels for USP28 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for USP28 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77456 | 11 | 113669783:113670137:113672204:113672400:113673879:113674003 | 113672204:113672400 | ENSG00000048028.7 | ENST00000545540.1,ENST00000544967.1,ENST00000540438.1,ENST00000260188.5,ENST00000003302.4 |
| exon_skip_77458 | 11 | 113675394:113675473:113675589:113675768:113679019:113679159 | 113675589:113675768 | ENSG00000048028.7 | ENST00000545540.1,ENST00000544967.1,ENST00000540438.1,ENST00000260188.5 |
| exon_skip_77460 | 11 | 113675649:113675768:113677210:113677306:113679019:113679159 | 113677210:113677306 | ENSG00000048028.7 | ENST00000003302.4 |
| exon_skip_77463 | 11 | 113677210:113677306:113678744:113678858:113679019:113679159 | 113678744:113678858 | ENSG00000048028.7 | ENST00000538224.1 |
| exon_skip_77466 | 11 | 113684606:113684677:113685895:113686104:113688379:113688416 | 113685895:113686104 | ENSG00000048028.7 | ENST00000545540.1,ENST00000544967.1,ENST00000260188.5,ENST00000003302.4,ENST00000537706.1 |
| exon_skip_77468 | 11 | 113685895:113686104:113688379:113688559:113694326:113694422 | 113688379:113688559 | ENSG00000048028.7 | ENST00000545540.1,ENST00000544967.1,ENST00000260188.5,ENST00000003302.4,ENST00000537706.1 |
| exon_skip_77470 | 11 | 113688552:113688559:113694326:113694422:113697954:113698082 | 113694326:113694422 | ENSG00000048028.7 | ENST00000537490.1,ENST00000545540.1,ENST00000544967.1,ENST00000260188.5,ENST00000003302.4,ENST00000535607.1,ENST00000537706.1 |
| exon_skip_77471 | 11 | 113697954:113698082:113699565:113699642:113699918:113700067 | 113699565:113699642 | ENSG00000048028.7 | ENST00000537490.1 |
| exon_skip_77472 | 11 | 113699942:113700067:113701588:113701665:113704141:113704192 | 113701588:113701665 | ENSG00000048028.7 | ENST00000545608.1 |
| exon_skip_77473 | 11 | 113699942:113700067:113701588:113701668:113704141:113704192 | 113701588:113701668 | ENSG00000048028.7 | ENST00000535607.1 |
| exon_skip_77476 | 11 | 113701604:113701665:113702641:113702711:113704141:113704192 | 113702641:113702711 | ENSG00000048028.7 | ENST00000540438.1 |
| exon_skip_77477 | 11 | 113701604:113701665:113702641:113702715:113704141:113704192 | 113702641:113702715 | ENSG00000048028.7 | ENST00000537642.1,ENST00000545540.1,ENST00000260188.5,ENST00000003302.4,ENST00000537706.1,ENST00000538475.1 |
| exon_skip_77480 | 11 | 113702641:113702715:113704141:113704279:113711319:113711479 | 113704141:113704279 | ENSG00000048028.7 | ENST00000537642.1 |
| exon_skip_77481 | 11 | 113704141:113704279:113704970:113705057:113711319:113711479 | 113704970:113705057 | ENSG00000048028.7 | ENST00000542033.1,ENST00000545540.1,ENST00000260188.5,ENST00000003302.4,ENST00000537706.1 |
| exon_skip_77482 | 11 | 113704970:113705057:113705928:113706049:113711319:113711479 | 113705928:113706049 | ENSG00000048028.7 | ENST00000540438.1 |
| exon_skip_77484 | 11 | 113712384:113712490:113723222:113723355:113724979:113725057 | 113723222:113723355 | ENSG00000048028.7 | ENST00000542033.1,ENST00000540438.1,ENST00000260188.5,ENST00000003302.4,ENST00000537706.1 |
| exon_skip_77491 | 11 | 113723343:113723355:113724979:113725057:113745238:113745522 | 113724979:113725057 | ENSG00000048028.7 | ENST00000540925.1,ENST00000544750.1 |
| exon_skip_77492 | 11 | 113723343:113723355:113724979:113725057:113746166:113746218 | 113724979:113725057 | ENSG00000048028.7 | ENST00000542033.1,ENST00000540438.1,ENST00000260188.5,ENST00000537706.1 |
| exon_skip_77495 | 11 | 113724979:113725057:113745238:113745522:113746166:113746218 | 113745238:113745522 | ENSG00000048028.7 | ENST00000540925.1 |
| exon_skip_77496 | 11 | 113724979:113725057:113745238:113745601:113746166:113746218 | 113745238:113745601 | ENSG00000048028.7 | ENST00000544750.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for USP28 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_77456 | 11 | 113669783:113670137:113672204:113672400:113673879:113674003 | 113672204:113672400 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000544967.1,ENST00000545540.1,ENST00000540438.1 |
| exon_skip_77458 | 11 | 113675394:113675473:113675589:113675768:113679019:113679159 | 113675589:113675768 | ENSG00000048028.7 | ENST00000260188.5,ENST00000544967.1,ENST00000545540.1,ENST00000540438.1 |
| exon_skip_77460 | 11 | 113675649:113675768:113677210:113677306:113679019:113679159 | 113677210:113677306 | ENSG00000048028.7 | ENST00000003302.4 |
| exon_skip_77463 | 11 | 113677210:113677306:113678744:113678858:113679019:113679159 | 113678744:113678858 | ENSG00000048028.7 | ENST00000538224.1 |
| exon_skip_77466 | 11 | 113684606:113684677:113685895:113686104:113688379:113688416 | 113685895:113686104 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000544967.1,ENST00000545540.1,ENST00000537706.1 |
| exon_skip_77468 | 11 | 113685895:113686104:113688379:113688559:113694326:113694422 | 113688379:113688559 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000544967.1,ENST00000545540.1,ENST00000537706.1 |
| exon_skip_77470 | 11 | 113688552:113688559:113694326:113694422:113697954:113698082 | 113694326:113694422 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000544967.1,ENST00000545540.1,ENST00000537706.1,ENST00000535607.1,ENST00000537490.1 |
| exon_skip_77471 | 11 | 113697954:113698082:113699565:113699642:113699918:113700067 | 113699565:113699642 | ENSG00000048028.7 | ENST00000537490.1 |
| exon_skip_77472 | 11 | 113699942:113700067:113701588:113701665:113704141:113704192 | 113701588:113701665 | ENSG00000048028.7 | ENST00000545608.1 |
| exon_skip_77473 | 11 | 113699942:113700067:113701588:113701668:113704141:113704192 | 113701588:113701668 | ENSG00000048028.7 | ENST00000535607.1 |
| exon_skip_77476 | 11 | 113701604:113701665:113702641:113702711:113704141:113704192 | 113702641:113702711 | ENSG00000048028.7 | ENST00000540438.1 |
| exon_skip_77477 | 11 | 113701604:113701665:113702641:113702715:113704141:113704192 | 113702641:113702715 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000545540.1,ENST00000538475.1,ENST00000537706.1,ENST00000537642.1 |
| exon_skip_77480 | 11 | 113702641:113702715:113704141:113704279:113711319:113711479 | 113704141:113704279 | ENSG00000048028.7 | ENST00000537642.1 |
| exon_skip_77481 | 11 | 113704141:113704279:113704970:113705057:113711319:113711479 | 113704970:113705057 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000545540.1,ENST00000537706.1,ENST00000542033.1 |
| exon_skip_77482 | 11 | 113704970:113705057:113705928:113706049:113711319:113711479 | 113705928:113706049 | ENSG00000048028.7 | ENST00000540438.1 |
| exon_skip_77484 | 11 | 113712384:113712490:113723222:113723355:113724979:113725057 | 113723222:113723355 | ENSG00000048028.7 | ENST00000003302.4,ENST00000260188.5,ENST00000540438.1,ENST00000537706.1,ENST00000542033.1 |
| exon_skip_77491 | 11 | 113723343:113723355:113724979:113725057:113745238:113745522 | 113724979:113725057 | ENSG00000048028.7 | ENST00000540925.1,ENST00000544750.1 |
| exon_skip_77492 | 11 | 113723343:113723355:113724979:113725057:113746166:113746218 | 113724979:113725057 | ENSG00000048028.7 | ENST00000260188.5,ENST00000540438.1,ENST00000537706.1,ENST00000542033.1 |
| exon_skip_77495 | 11 | 113724979:113725057:113745238:113745522:113746166:113746218 | 113745238:113745522 | ENSG00000048028.7 | ENST00000540925.1 |
| exon_skip_77496 | 11 | 113724979:113725057:113745238:113745601:113746166:113746218 | 113745238:113745601 | ENSG00000048028.7 | ENST00000544750.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for USP28 |
| 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 |
| ENST00000003302 | 113672204 | 113672400 | Frame-shift |
| ENST00000003302 | 113685895 | 113686104 | Frame-shift |
| ENST00000003302 | 113702641 | 113702715 | Frame-shift |
| ENST00000003302 | 113723222 | 113723355 | Frame-shift |
| ENST00000003302 | 113677210 | 113677306 | In-frame |
| ENST00000003302 | 113688379 | 113688559 | In-frame |
| ENST00000003302 | 113694326 | 113694422 | In-frame |
| ENST00000003302 | 113704970 | 113705057 | 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 |
| ENST00000003302 | 113672204 | 113672400 | Frame-shift |
| ENST00000003302 | 113685895 | 113686104 | Frame-shift |
| ENST00000003302 | 113702641 | 113702715 | Frame-shift |
| ENST00000003302 | 113723222 | 113723355 | Frame-shift |
| ENST00000003302 | 113677210 | 113677306 | In-frame |
| ENST00000003302 | 113688379 | 113688559 | In-frame |
| ENST00000003302 | 113694326 | 113694422 | In-frame |
| ENST00000003302 | 113704970 | 113705057 | In-frame |
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Infer the effects of exon skipping event on protein functional features for USP28 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000003302 | 4686 | 1077 | 113704970 | 113705057 | 604 | 690 | 178 | 207 |
| ENST00000003302 | 4686 | 1077 | 113694326 | 113694422 | 1257 | 1352 | 396 | 427 |
| ENST00000003302 | 4686 | 1077 | 113688379 | 113688559 | 1353 | 1532 | 428 | 487 |
| ENST00000003302 | 4686 | 1077 | 113677210 | 113677306 | 2374 | 2469 | 768 | 800 |
| 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 |
| ENST00000003302 | 4686 | 1077 | 113704970 | 113705057 | 604 | 690 | 178 | 207 |
| ENST00000003302 | 4686 | 1077 | 113694326 | 113694422 | 1257 | 1352 | 396 | 427 |
| ENST00000003302 | 4686 | 1077 | 113688379 | 113688559 | 1353 | 1532 | 428 | 487 |
| ENST00000003302 | 4686 | 1077 | 113677210 | 113677306 | 2374 | 2469 | 768 | 800 |
| 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 |
| Q96RU2 | 178 | 207 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| Q96RU2 | 178 | 207 | 162 | 650 | Domain | Note=USP |
| Q96RU2 | 396 | 427 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| Q96RU2 | 396 | 427 | 162 | 650 | Domain | Note=USP |
| Q96RU2 | 428 | 487 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| Q96RU2 | 428 | 487 | 162 | 650 | Domain | Note=USP |
| Q96RU2 | 768 | 800 | 584 | 1077 | Alternative sequence | ID=VSP_057360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96RU2 | 768 | 800 | 769 | 800 | Alternative sequence | ID=VSP_015580;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10819331;Dbxref=PMID:10819331 |
| Q96RU2 | 768 | 800 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| 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 |
| Q96RU2 | 178 | 207 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| Q96RU2 | 178 | 207 | 162 | 650 | Domain | Note=USP |
| Q96RU2 | 396 | 427 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| Q96RU2 | 396 | 427 | 162 | 650 | Domain | Note=USP |
| Q96RU2 | 428 | 487 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
| Q96RU2 | 428 | 487 | 162 | 650 | Domain | Note=USP |
| Q96RU2 | 768 | 800 | 584 | 1077 | Alternative sequence | ID=VSP_057360;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96RU2 | 768 | 800 | 769 | 800 | Alternative sequence | ID=VSP_015580;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10819331;Dbxref=PMID:10819331 |
| Q96RU2 | 768 | 800 | 1 | 1077 | Chain | ID=PRO_0000080657;Note=Ubiquitin carboxyl-terminal hydrolase 28 |
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SNVs in the skipped exons for USP28 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
USP28_CESC_exon_skip_77466_psi_boxplot.png |
USP28_COAD_exon_skip_77460_psi_boxplot.png |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_77468 | 113688380 | 113688559 | 113688423 | 113688423 | Frame_Shift_Del | A | - | p.S475fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_77468 | 113688380 | 113688559 | 113688490 | 113688490 | Frame_Shift_Del | A | - | p.F451fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_77468 | 113688380 | 113688559 | 113688536 | 113688536 | Frame_Shift_Del | G | - | p.P436fs |
| BLCA | TCGA-GV-A3QI-01 | exon_skip_77470 | 113694327 | 113694422 | 113694349 | 113694350 | Frame_Shift_Del | TT | - | p.K420fs |
| BLCA | TCGA-GV-A3QI-01 | exon_skip_77470 | 113694327 | 113694422 | 113694349 | 113694350 | Frame_Shift_Del | TT | - | p.KI420fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_77470 | 113694327 | 113694422 | 113694349 | 113694349 | Frame_Shift_Del | T | - | p.I421fs |
| KIRC | TCGA-B8-5551-01 | exon_skip_77470 | 113694327 | 113694422 | 113694390 | 113694391 | Frame_Shift_Del | TT | - | p.407_407del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77472 | 113701589 | 113701665 | 113701642 | 113701642 | Frame_Shift_Del | T | - | p.N286fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_77473 | 113701589 | 113701668 | 113701642 | 113701642 | Frame_Shift_Del | T | - | p.N286fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_77480 | 113704142 | 113704279 | 113704215 | 113704215 | Frame_Shift_Del | T | - | p.N229fs |
| LGG | TCGA-P5-A77X-01 | exon_skip_77480 | 113704142 | 113704279 | 113704275 | 113704276 | Frame_Shift_Del | TT | - | p.K209fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_77456 | 113672205 | 113672400 | 113672230 | 113672230 | Nonsense_Mutation | G | T | p.C1011* |
| UCEC | TCGA-AP-A051-01 | exon_skip_77458 | 113675590 | 113675768 | 113675639 | 113675639 | Nonsense_Mutation | G | A | p.R844* |
| UCEC | TCGA-AP-A059-01 | exon_skip_77458 | 113675590 | 113675768 | 113675639 | 113675639 | Nonsense_Mutation | G | A | p.R844* |
| COAD | TCGA-AY-6197-01 | exon_skip_77460 | 113677211 | 113677306 | 113677252 | 113677252 | Nonsense_Mutation | G | A | p.Q787X |
| CESC | TCGA-IR-A3LA-01 | exon_skip_77466 | 113685896 | 113686104 | 113685932 | 113685932 | Nonsense_Mutation | G | A | p.Q546* |
| BLCA | TCGA-2F-A9KO-01 | exon_skip_77466 | 113685896 | 113686104 | 113686082 | 113686082 | Nonsense_Mutation | G | A | p.Q496* |
| LUAD | TCGA-62-8395-01 | exon_skip_77468 | 113688380 | 113688559 | 113688419 | 113688419 | Nonsense_Mutation | G | T | p.S475* |
| LUSC | TCGA-18-3419-01 | exon_skip_77480 | 113704142 | 113704279 | 113704153 | 113704153 | Nonsense_Mutation | C | A | p.E250* |
| COAD | TCGA-D5-6922-01 | exon_skip_77480 | 113704142 | 113704279 | 113704162 | 113704162 | Nonsense_Mutation | G | A | p.R247X |
| PRAD | TCGA-EJ-5518-01 | exon_skip_77480 | 113704142 | 113704279 | 113704218 | 113704218 | Nonsense_Mutation | G | C | p.S228* |
| COAD | TCGA-AA-3510-01 | exon_skip_77481 | 113704971 | 113705057 | 113704982 | 113704982 | Nonsense_Mutation | G | A | p.R204X |
| READ | TCGA-EI-6917-01 | exon_skip_77481 | 113704971 | 113705057 | 113704982 | 113704982 | Nonsense_Mutation | G | A | p.R204X |
| UCEC | TCGA-AX-A0J1-01 | exon_skip_77481 | 113704971 | 113705057 | 113704982 | 113704982 | Nonsense_Mutation | G | A | p.R204* |
| STAD | TCGA-D7-A4YT-01 | exon_skip_77481 | 113704971 | 113705057 | 113704991 | 113704991 | Nonsense_Mutation | C | A | p.E201* |
| STAD | TCGA-D7-A4YT-01 | exon_skip_77481 | 113704971 | 113705057 | 113704991 | 113704991 | Nonsense_Mutation | C | A | p.E201X |
| LUAD | TCGA-55-8205-01 | exon_skip_77481 | 113704971 | 113705057 | 113705003 | 113705003 | Nonsense_Mutation | G | A | p.Q197* |
| READ | TCGA-F5-6814-01 | exon_skip_77481 | 113704971 | 113705057 | 113705033 | 113705033 | Nonsense_Mutation | G | A | p.R187X |
| THCA | TCGA-DJ-A1QL-01 | exon_skip_77481 | 113704971 | 113705057 | 113705033 | 113705033 | Nonsense_Mutation | G | A | p.R187* |
| THCA | TCGA-DJ-A1QL-01 | exon_skip_77481 | 113704971 | 113705057 | 113705033 | 113705033 | Nonsense_Mutation | G | A | p.R187X |
| SKCM | TCGA-WE-A8ZX-06 | exon_skip_77481 | 113704971 | 113705057 | 113705048 | 113705048 | Nonsense_Mutation | G | A | p.Q182* |
| COAD | TCGA-D5-6533-01 | exon_skip_77484 | 113723223 | 113723355 | 113723235 | 113723235 | Nonsense_Mutation | C | A | p.E86X |
| PAAD | TCGA-HV-A5A6-01 | exon_skip_77458 | 113675590 | 113675768 | 113675589 | 113675589 | Splice_Site | C | T | . |
| GBM | TCGA-06-0209-01 | exon_skip_77460 | 113677211 | 113677306 | 113677209 | 113677209 | Splice_Site | A | G | p.K800_splice |
| UCEC | TCGA-D1-A101-01 | exon_skip_77481 | 113704971 | 113705057 | 113705058 | 113705058 | Splice_Site | C | T | e6-1 |
| UCEC | TCGA-D1-A101-01 | exon_skip_77481 | 113704971 | 113705057 | 113705058 | 113705058 | Splice_Site | C | T | p.S179_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IR-A3LA-01 |
| Cancer type: CESC | |
| ESID: exon_skip_77466 | |
| Skipped exon start: 113685896 | |
| Skipped exon end: 113686104 | |
| Mutation start: 113685932 | |
| Mutation end: 113685932 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q546* | |
exon_skip_300158_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_353670_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_514460_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_54120_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_7339_CESC_TCGA-IR-A3LA-01.png | |
exon_skip_77466_CESC_TCGA-IR-A3LA-01.png | |
 | Sample: TCGA-AY-6197-01 |
| Cancer type: COAD | |
| ESID: exon_skip_77460 | |
| Skipped exon start: 113677211 | |
| Skipped exon end: 113677306 | |
| Mutation start: 113677252 | |
| Mutation end: 113677252 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q787X | |
exon_skip_110606_COAD_TCGA-AY-6197-01.png | |
exon_skip_121022_COAD_TCGA-AY-6197-01.png | |
exon_skip_315782_COAD_TCGA-AY-6197-01.png | |
exon_skip_320294_COAD_TCGA-AY-6197-01.png | |
exon_skip_331095_COAD_TCGA-AY-6197-01.png | |
exon_skip_331623_COAD_TCGA-AY-6197-01.png | |
exon_skip_339350_COAD_TCGA-AY-6197-01.png | |
exon_skip_343170_COAD_TCGA-AY-6197-01.png | |
exon_skip_40234_COAD_TCGA-AY-6197-01.png | |
exon_skip_40235_COAD_TCGA-AY-6197-01.png | |
exon_skip_449340_COAD_TCGA-AY-6197-01.png | |
exon_skip_489149_COAD_TCGA-AY-6197-01.png | |
exon_skip_77460_COAD_TCGA-AY-6197-01.png | |
| - 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 |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113704142 | 113704279 | 113704263 | 113704266 | Frame_Shift_Del | ATGA | - | p.IM212fs |
| LS411N_LARGE_INTESTINE | 113694327 | 113694422 | 113694334 | 113694335 | Frame_Shift_Ins | - | T | p.L426fs |
| NUGC3_STOMACH | 113672205 | 113672400 | 113672214 | 113672214 | Missense_Mutation | C | T | p.D1017N |
| MKN7_STOMACH | 113672205 | 113672400 | 113672245 | 113672245 | Missense_Mutation | C | G | p.M1006I |
| HCC2450_LUNG | 113672205 | 113672400 | 113672253 | 113672253 | Missense_Mutation | C | G | p.E1004Q |
| BHT101_THYROID | 113672205 | 113672400 | 113672259 | 113672259 | Missense_Mutation | C | T | p.A1002T |
| GP2D_LARGE_INTESTINE | 113672205 | 113672400 | 113672351 | 113672351 | Missense_Mutation | G | T | p.S971Y |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 113672205 | 113672400 | 113672351 | 113672351 | Missense_Mutation | G | A | p.S971F |
| NCIH23_LUNG | 113672205 | 113672400 | 113672370 | 113672370 | Missense_Mutation | C | T | p.E965K |
| UMUC5_URINARY_TRACT | 113675590 | 113675768 | 113675597 | 113675597 | Missense_Mutation | C | T | p.D858N |
| SNGM_ENDOMETRIUM | 113675590 | 113675768 | 113675609 | 113675609 | Missense_Mutation | T | C | p.N854D |
| CAL54_KIDNEY | 113675590 | 113675768 | 113675618 | 113675618 | Missense_Mutation | C | A | p.A851S |
| HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113675590 | 113675768 | 113675624 | 113675624 | Missense_Mutation | G | C | p.Q849E |
| CASKI_CERVIX | 113675590 | 113675768 | 113675636 | 113675636 | Missense_Mutation | T | C | p.T845A |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113675590 | 113675768 | 113675660 | 113675660 | Missense_Mutation | C | T | p.A837T |
| A253_SALIVARY_GLAND | 113677211 | 113677306 | 113677239 | 113677239 | Missense_Mutation | C | T | p.R791Q |
| HEC59_ENDOMETRIUM | 113677211 | 113677306 | 113677290 | 113677290 | Missense_Mutation | G | A | p.A774V |
| SNU175_LARGE_INTESTINE | 113677211 | 113677306 | 113677290 | 113677290 | Missense_Mutation | G | C | p.A774G |
| 5637_URINARY_TRACT | 113685896 | 113686104 | 113685917 | 113685917 | Missense_Mutation | C | T | p.E551K |
| SW48_LARGE_INTESTINE | 113685896 | 113686104 | 113685959 | 113685959 | Missense_Mutation | C | T | p.E537K |
| 5637_URINARY_TRACT | 113685896 | 113686104 | 113685986 | 113685986 | Missense_Mutation | G | T | p.P528T |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113685896 | 113686104 | 113686012 | 113686012 | Missense_Mutation | C | T | p.R519Q |
| COGE352_BONE | 113685896 | 113686104 | 113686102 | 113686102 | Missense_Mutation | G | T | p.T489K |
| LNCAPCLONEFGC_PROSTATE | 113701589 | 113701668 | 113701640 | 113701640 | Missense_Mutation | G | T | p.P287T |
| LNCAPCLONEFGC_PROSTATE | 113701589 | 113701665 | 113701640 | 113701640 | Missense_Mutation | G | T | p.P287T |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113704142 | 113704279 | 113704172 | 113704172 | Missense_Mutation | C | G | p.K243N |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113704142 | 113704279 | 113704172 | 113704172 | Missense_Mutation | C | G | p.K243N |
| SISO_CERVIX | 113704142 | 113704279 | 113704172 | 113704172 | Missense_Mutation | C | G | p.K243N |
| TE10_OESOPHAGUS | 113704142 | 113704279 | 113704172 | 113704172 | Missense_Mutation | C | G | p.K243N |
| SNU1040_LARGE_INTESTINE | 113704142 | 113704279 | 113704233 | 113704233 | Missense_Mutation | G | A | p.A223V |
| LS411N_LARGE_INTESTINE | 113704971 | 113705057 | 113705018 | 113705018 | Missense_Mutation | T | C | p.S192G |
| JHUEM7_ENDOMETRIUM | 113704971 | 113705057 | 113705021 | 113705021 | Missense_Mutation | G | T | p.L191I |
| HUH1_LIVER | 113723223 | 113723355 | 113723240 | 113723240 | Missense_Mutation | T | C | p.N84S |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113723223 | 113723355 | 113723240 | 113723240 | Missense_Mutation | T | C | p.N84S |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113723223 | 113723355 | 113723240 | 113723240 | Missense_Mutation | T | C | p.N84S |
| MFHINO_SOFT_TISSUE | 113723223 | 113723355 | 113723240 | 113723240 | Missense_Mutation | T | C | p.N84S |
| WM88_SKIN | 113723223 | 113723355 | 113723244 | 113723244 | Missense_Mutation | C | T | p.A83T |
| TGBC11TKB_STOMACH | 113723223 | 113723355 | 113723249 | 113723249 | Missense_Mutation | C | G | p.S81T |
| SW579_THYROID | 113723223 | 113723355 | 113723319 | 113723319 | Missense_Mutation | G | A | p.L58F |
| CGTHW1_THYROID | 113723223 | 113723355 | 113723319 | 113723319 | Missense_Mutation | G | A | p.L58F |
| T47D_BREAST | 113724980 | 113725057 | 113725002 | 113725002 | Missense_Mutation | G | T | p.S38Y |
| HELA_CERVIX | 113724980 | 113725057 | 113725046 | 113725046 | Missense_Mutation | C | G | p.M23I |
| SNU81_LARGE_INTESTINE | 113694327 | 113694422 | 113694373 | 113694373 | Nonsense_Mutation | G | A | p.R413* |
| KYM1_SOFT_TISSUE | 113694327 | 113694422 | 113694394 | 113694394 | Nonsense_Mutation | G | A | p.R406* |
| NCIH1155_LUNG | 113704142 | 113704279 | 113704144 | 113704144 | Nonsense_Mutation | G | A | p.Q253* |
| NCIH2286_LUNG | 113704142 | 113704279 | 113704150 | 113704150 | Nonsense_Mutation | C | A | p.E251* |
| HUH7_LIVER | 113704142 | 113704279 | 113704162 | 113704162 | Nonsense_Mutation | G | A | p.R247* |
| JHUEM7_ENDOMETRIUM | 113704971 | 113705057 | 113704982 | 113704982 | Nonsense_Mutation | G | A | p.R204* |
| SKMES1_LUNG | 113723223 | 113723355 | 113723298 | 113723298 | Nonsense_Mutation | C | A | p.E65* |
| EFO27_OVARY | 113675590 | 113675768 | 113675591 | 113675591 | Splice_Site | T | C | p.R860G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP28 |
| 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_77496 | 11 | 113724979:113725057:113745238:113745601:113746166:113746218 | 113745238:113745601 | ENST00000544750.1 | BLCA | rs45587435 | chr11:113745574 | C/T | 5.80e-04 |
| exon_skip_77496 | 11 | 113724979:113725057:113745238:113745601:113746166:113746218 | 113745238:113745601 | ENST00000544750.1 | BLCA | rs45587435 | chr11:113745574 | C/T | 5.81e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP28 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP28 |
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RelatedDrugs for USP28 |
| 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 |
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RelatedDiseases for USP28 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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