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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 UBR5 |
 Gene summary |
| Gene information | Gene symbol | UBR5 | Gene ID | 51366 |
| Gene name | ubiquitin protein ligase E3 component n-recognin 5 | |
| Synonyms | DD5|EDD|EDD1|HYD | |
| Cytomap | 8q22.3 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase UBR5E3 identified by differential displayE3 ubiquitin-protein ligase, HECT domain-containing 1HECT-type E3 ubiquitin transferase UBR5hyperplastic discs protein homologprogestin-induced protein | |
| Modification date | 20180523 | |
| UniProtAcc | O95071 | |
| Context | PubMed: UBR5 [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 |
| UBR5 | GO:0000209 | protein polyubiquitination | 21118991|28689657 |
| UBR5 | GO:0006974 | cellular response to DNA damage stimulus | 12011095 |
| UBR5 | GO:0010628 | positive regulation of gene expression | 18076571 |
| UBR5 | GO:0050847 | progesterone receptor signaling pathway | 12011095 |
| UBR5 | GO:0070936 | protein K48-linked ubiquitination | 28689657 |
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Exon skipping events across known transcript of Ensembl for UBR5 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 UBR5 |
| 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 UBR5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_491665 | 8 | 103269859:103269945:103270543:103270652:103271212:103271357 | 103270543:103270652 | ENSG00000104517.8 | ENST00000517465.1 |
| exon_skip_491668 | 8 | 103269859:103269945:103271212:103271357:103273373:103273487 | 103271212:103271357 | ENSG00000104517.8 | ENST00000220959.4,ENST00000518205.1,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491672 | 8 | 103271212:103271357:103273373:103273487:103274142:103274214 | 103273373:103273487 | ENSG00000104517.8 | ENST00000220959.4,ENST00000518205.1,ENST00000520539.1,ENST00000521922.1,ENST00000517465.1 |
| exon_skip_491674 | 8 | 103273373:103273487:103274142:103274298:103276701:103276786 | 103274142:103274298 | ENSG00000104517.8 | ENST00000220959.4,ENST00000518205.1,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491677 | 8 | 103274142:103274298:103276701:103276786:103277327:103277396 | 103276701:103276786 | ENSG00000104517.8 | ENST00000220959.4,ENST00000518205.1,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491678 | 8 | 103277327:103277503:103279174:103279235:103281205:103281336 | 103279174:103279235 | ENSG00000104517.8 | ENST00000220959.4,ENST00000518205.1,ENST00000521922.1 |
| exon_skip_491681 | 8 | 103277435:103277506:103279174:103279235:103281205:103281336 | 103279174:103279235 | ENSG00000104517.8 | ENST00000520539.1 |
| exon_skip_491685 | 8 | 103289199:103289420:103291053:103291167:103291263:103291394 | 103291053:103291167 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491687 | 8 | 103297354:103297566:103297740:103298009:103298587:103298845 | 103297740:103298009 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491690 | 8 | 103299732:103299792:103300382:103300494:103301680:103301804 | 103300382:103300494 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491693 | 8 | 103307863:103308010:103309120:103309212:103309685:103309834 | 103309120:103309212 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491696 | 8 | 103311094:103311199:103311679:103311724:103312227:103312379 | 103311679:103311724 | ENSG00000104517.8 | ENST00000519365.1 |
| exon_skip_491697 | 8 | 103311094:103311199:103311679:103311775:103312227:103312379 | 103311679:103311775 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520898.1,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491702 | 8 | 103317312:103317523:103323526:103323724:103323962:103324117 | 103323526:103323724 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491703 | 8 | 103338773:103338891:103339969:103340124:103341317:103341428 | 103339969:103340124 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491704 | 8 | 103339969:103340124:103341317:103341428:103341510:103341627 | 103341317:103341428 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491705 | 8 | 103358463:103358623:103359130:103359320:103372298:103372418 | 103359130:103359320 | ENSG00000104517.8 | ENST00000220959.4,ENST00000520539.1,ENST00000521922.1 |
| exon_skip_491706 | 8 | 103373352:103373434:103373809:103373854:103424400:103424917 | 103373809:103373854 | ENSG00000104517.8 | ENST00000220959.4,ENST00000521922.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBR5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_491665 | 8 | 103269859:103269945:103270543:103270652:103271212:103271357 | 103270543:103270652 | ENSG00000104517.8 | ENST00000517465.1 |
| exon_skip_491668 | 8 | 103269859:103269945:103271212:103271357:103273373:103273487 | 103271212:103271357 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000518205.1,ENST00000521922.1 |
| exon_skip_491672 | 8 | 103271212:103271357:103273373:103273487:103274142:103274214 | 103273373:103273487 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000517465.1,ENST00000518205.1,ENST00000521922.1 |
| exon_skip_491674 | 8 | 103273373:103273487:103274142:103274298:103276701:103276786 | 103274142:103274298 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000518205.1,ENST00000521922.1 |
| exon_skip_491677 | 8 | 103274142:103274298:103276701:103276786:103277327:103277396 | 103276701:103276786 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000518205.1,ENST00000521922.1 |
| exon_skip_491678 | 8 | 103277327:103277503:103279174:103279235:103281205:103281336 | 103279174:103279235 | ENSG00000104517.8 | ENST00000220959.4,ENST00000518205.1,ENST00000521922.1 |
| exon_skip_491681 | 8 | 103277435:103277506:103279174:103279235:103281205:103281336 | 103279174:103279235 | ENSG00000104517.8 | ENST00000520539.1 |
| exon_skip_491685 | 8 | 103289199:103289420:103291053:103291167:103291263:103291394 | 103291053:103291167 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491687 | 8 | 103297354:103297566:103297740:103298009:103298587:103298845 | 103297740:103298009 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491690 | 8 | 103299732:103299792:103300382:103300494:103301680:103301804 | 103300382:103300494 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491693 | 8 | 103307863:103308010:103309120:103309212:103309685:103309834 | 103309120:103309212 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491696 | 8 | 103311094:103311199:103311679:103311724:103312227:103312379 | 103311679:103311724 | ENSG00000104517.8 | ENST00000519365.1 |
| exon_skip_491697 | 8 | 103311094:103311199:103311679:103311775:103312227:103312379 | 103311679:103311775 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1,ENST00000520898.1 |
| exon_skip_491702 | 8 | 103317312:103317523:103323526:103323724:103323962:103324117 | 103323526:103323724 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491703 | 8 | 103338773:103338891:103339969:103340124:103341317:103341428 | 103339969:103340124 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491704 | 8 | 103339969:103340124:103341317:103341428:103341510:103341627 | 103341317:103341428 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491705 | 8 | 103358463:103358623:103359130:103359320:103372298:103372418 | 103359130:103359320 | ENSG00000104517.8 | ENST00000520539.1,ENST00000220959.4,ENST00000521922.1 |
| exon_skip_491706 | 8 | 103373352:103373434:103373809:103373854:103424400:103424917 | 103373809:103373854 | ENSG00000104517.8 | ENST00000220959.4,ENST00000521922.1 |
| 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 UBR5 |
| 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 |
| ENST00000520539 | 103271212 | 103271357 | Frame-shift |
| ENST00000520539 | 103276701 | 103276786 | Frame-shift |
| ENST00000520539 | 103279174 | 103279235 | Frame-shift |
| ENST00000520539 | 103297740 | 103298009 | Frame-shift |
| ENST00000520539 | 103300382 | 103300494 | Frame-shift |
| ENST00000520539 | 103309120 | 103309212 | Frame-shift |
| ENST00000520539 | 103339969 | 103340124 | Frame-shift |
| ENST00000520539 | 103359130 | 103359320 | Frame-shift |
| ENST00000520539 | 103273373 | 103273487 | In-frame |
| ENST00000520539 | 103274142 | 103274298 | In-frame |
| ENST00000520539 | 103291053 | 103291167 | In-frame |
| ENST00000520539 | 103311679 | 103311775 | In-frame |
| ENST00000520539 | 103323526 | 103323724 | In-frame |
| ENST00000520539 | 103341317 | 103341428 | 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 |
| ENST00000520539 | 103271212 | 103271357 | Frame-shift |
| ENST00000520539 | 103276701 | 103276786 | Frame-shift |
| ENST00000520539 | 103279174 | 103279235 | Frame-shift |
| ENST00000520539 | 103297740 | 103298009 | Frame-shift |
| ENST00000520539 | 103300382 | 103300494 | Frame-shift |
| ENST00000520539 | 103309120 | 103309212 | Frame-shift |
| ENST00000520539 | 103339969 | 103340124 | Frame-shift |
| ENST00000520539 | 103359130 | 103359320 | Frame-shift |
| ENST00000520539 | 103273373 | 103273487 | In-frame |
| ENST00000520539 | 103274142 | 103274298 | In-frame |
| ENST00000520539 | 103291053 | 103291167 | In-frame |
| ENST00000520539 | 103311679 | 103311775 | In-frame |
| ENST00000520539 | 103323526 | 103323724 | In-frame |
| ENST00000520539 | 103341317 | 103341428 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBR5 |
| 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 |
| ENST00000520539 | 10314 | 2799 | 103341317 | 103341428 | 1823 | 1933 | 405 | 442 |
| ENST00000520539 | 10314 | 2799 | 103323526 | 103323724 | 3026 | 3223 | 806 | 872 |
| ENST00000520539 | 10314 | 2799 | 103311679 | 103311775 | 3714 | 3809 | 1035 | 1067 |
| ENST00000520539 | 10314 | 2799 | 103291053 | 103291167 | 6782 | 6895 | 2058 | 2096 |
| ENST00000520539 | 10314 | 2799 | 103274142 | 103274298 | 8294 | 8449 | 2562 | 2614 |
| ENST00000520539 | 10314 | 2799 | 103273373 | 103273487 | 8450 | 8563 | 2614 | 2652 |
| 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 |
| ENST00000520539 | 10314 | 2799 | 103341317 | 103341428 | 1823 | 1933 | 405 | 442 |
| ENST00000520539 | 10314 | 2799 | 103323526 | 103323724 | 3026 | 3223 | 806 | 872 |
| ENST00000520539 | 10314 | 2799 | 103311679 | 103311775 | 3714 | 3809 | 1035 | 1067 |
| ENST00000520539 | 10314 | 2799 | 103291053 | 103291167 | 6782 | 6895 | 2058 | 2096 |
| ENST00000520539 | 10314 | 2799 | 103274142 | 103274298 | 8294 | 8449 | 2562 | 2614 |
| ENST00000520539 | 10314 | 2799 | 103273373 | 103273487 | 8450 | 8563 | 2614 | 2652 |
| 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 |
| O95071 | 405 | 442 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 806 | 872 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 806 | 872 | 808 | 808 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:21924388;Dbxref=PMID:23186163,PMID:21924388 |
| O95071 | 1035 | 1067 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2058 | 2096 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2058 | 2096 | 2036 | 2059 | Compositional bias | Note=Pro-rich |
| O95071 | 2058 | 2096 | 2076 | 2076 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21924388;Dbxref=PMID:21924388 |
| O95071 | 2562 | 2614 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2562 | 2614 | 2462 | 2799 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
| O95071 | 2614 | 2652 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2614 | 2652 | 2462 | 2799 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
| 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 |
| O95071 | 405 | 442 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 806 | 872 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 806 | 872 | 808 | 808 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:21924388;Dbxref=PMID:23186163,PMID:21924388 |
| O95071 | 1035 | 1067 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2058 | 2096 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2058 | 2096 | 2036 | 2059 | Compositional bias | Note=Pro-rich |
| O95071 | 2058 | 2096 | 2076 | 2076 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21924388;Dbxref=PMID:21924388 |
| O95071 | 2562 | 2614 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2562 | 2614 | 2462 | 2799 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
| O95071 | 2614 | 2652 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2614 | 2652 | 2462 | 2799 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
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SNVs in the skipped exons for UBR5 |
| - 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. |
| - 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 |
| THCA | TCGA-EL-A4K2-01 | exon_skip_491668 | 103271213 | 103271357 | 103271235 | 103271235 | Frame_Shift_Del | A | - | p.F2693fs |
| THCA | TCGA-EL-A4K2-01 | exon_skip_491668 | 103271213 | 103271357 | 103271235 | 103271235 | Frame_Shift_Del | A | - | p.T2694fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_491674 | 103274143 | 103274298 | 103274272 | 103274272 | Frame_Shift_Del | A | - | p.D2572fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_491674 | 103274143 | 103274298 | 103274272 | 103274272 | Frame_Shift_Del | A | - | p.F2571fs |
| STAD | TCGA-BR-8372-01 | exon_skip_491674 | 103274143 | 103274298 | 103274272 | 103274272 | Frame_Shift_Del | A | - | p.D2572fs |
| COAD | TCGA-CK-5916-01 | exon_skip_491685 | 103291054 | 103291167 | 103291141 | 103291141 | Frame_Shift_Del | A | - | p.G2068fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_491697 | 103311680 | 103311775 | 103311747 | 103311747 | Frame_Shift_Del | G | - | p.P1045fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_491703 | 103339970 | 103340124 | 103340007 | 103340007 | Frame_Shift_Del | A | - | p.Y482fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_491704 | 103341318 | 103341428 | 103341320 | 103341324 | Frame_Shift_Del | TGTTA | - | p.NNK440fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_491704 | 103341318 | 103341428 | 103341390 | 103341390 | Frame_Shift_Del | C | - | p.G418fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_491705 | 103359131 | 103359320 | 103359189 | 103359189 | Frame_Shift_Del | C | - | p.G173fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_491693 | 103309121 | 103309212 | 103309203 | 103309204 | Frame_Shift_Ins | - | A | p.E1194fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_491693 | 103309121 | 103309212 | 103309203 | 103309204 | Frame_Shift_Ins | - | A | p.LV1194fs |
| GBM | TCGA-76-6657-01 | exon_skip_491703 | 103339970 | 103340124 | 103340098 | 103340099 | Frame_Shift_Ins | - | A | p.L451fs |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_491668 | 103271213 | 103271357 | 103271215 | 103271215 | Nonsense_Mutation | G | T | p.S2700* |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_491668 | 103271213 | 103271357 | 103271215 | 103271215 | Nonsense_Mutation | G | T | p.S2700X |
| BRCA | TCGA-AQ-A04L-01 | exon_skip_491668 | 103271213 | 103271357 | 103271312 | 103271312 | Nonsense_Mutation | C | A | p.E2668* |
| STAD | TCGA-CG-5733-01 | exon_skip_491674 | 103274143 | 103274298 | 103274148 | 103274148 | Nonsense_Mutation | C | A | p.G2613* |
| HNSC | TCGA-CR-7398-01 | exon_skip_491687 | 103297741 | 103298009 | 103297762 | 103297762 | Nonsense_Mutation | G | C | p.Y1821* |
| STAD | TCGA-BR-8690-01 | exon_skip_491687 | 103297741 | 103298009 | 103297970 | 103297970 | Nonsense_Mutation | A | C | p.L1752* |
| STAD | TCGA-BR-8690-01 | exon_skip_491687 | 103297741 | 103298009 | 103297970 | 103297970 | Nonsense_Mutation | A | C | p.L1752X |
| COAD | TCGA-AA-A01F-01 | exon_skip_491690 | 103300383 | 103300494 | 103300407 | 103300407 | Nonsense_Mutation | G | A | p.Q1601X |
| UCEC | TCGA-D1-A16Y-01 | exon_skip_491702 | 103323527 | 103323724 | 103323706 | 103323706 | Nonsense_Mutation | G | A | p.R813* |
| THYM | TCGA-ZB-A965-01 | exon_skip_491705 | 103359131 | 103359320 | 103359253 | 103359253 | Nonsense_Mutation | G | A | p.R152X |
| LUAD | TCGA-38-4631-01 | exon_skip_491705 | 103359131 | 103359320 | 103359295 | 103359295 | Nonsense_Mutation | C | A | p.G138* |
| - 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 |
| HCC1569_BREAST | 103341318 | 103341428 | 103341394 | 103341394 | Frame_Shift_Del | A | - | p.L417fs |
| RCCMF_KIDNEY | 103297741 | 103298009 | 103297861 | 103297862 | Frame_Shift_Ins | - | T | p.Y1788fs |
| A204_SOFT_TISSUE | 103271213 | 103271357 | 103271326 | 103271326 | Missense_Mutation | G | T | p.P2663Q |
| TTC642_SOFT_TISSUE | 103271213 | 103271357 | 103271326 | 103271326 | Missense_Mutation | G | T | p.P2663Q |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103273374 | 103273487 | 103273391 | 103273391 | Missense_Mutation | C | T | p.A2647T |
| EN_ENDOMETRIUM | 103273374 | 103273487 | 103273406 | 103273406 | Missense_Mutation | T | C | p.R2642G |
| ECC12_STOMACH | 103273374 | 103273487 | 103273415 | 103273415 | Missense_Mutation | C | T | p.A2639T |
| OC316_OVARY | 103273374 | 103273487 | 103273429 | 103273429 | Missense_Mutation | T | C | p.Y2634C |
| OC314_OVARY | 103273374 | 103273487 | 103273429 | 103273429 | Missense_Mutation | T | C | p.Y2634C |
| SNU520_STOMACH | 103274143 | 103274298 | 103274232 | 103274232 | Missense_Mutation | C | T | p.A2585T |
| NCIH810_LUNG | 103274143 | 103274298 | 103274232 | 103274232 | Missense_Mutation | C | T | p.A2585T |
| IGROV1_OVARY | 103291054 | 103291167 | 103291064 | 103291064 | Missense_Mutation | T | C | p.N2093S |
| HT115_LARGE_INTESTINE | 103291054 | 103291167 | 103291146 | 103291146 | Missense_Mutation | G | T | p.L2066I |
| HCC2998_LARGE_INTESTINE | 103297741 | 103298009 | 103297763 | 103297763 | Missense_Mutation | T | C | p.Y1821C |
| NB10_AUTONOMIC_GANGLIA | 103297741 | 103298009 | 103297776 | 103297776 | Missense_Mutation | C | T | p.V1817M |
| NCIH2110_LUNG | 103297741 | 103298009 | 103297827 | 103297827 | Missense_Mutation | C | A | p.G1800C |
| NCIH2110_LUNG | 103297741 | 103298009 | 103297827 | 103297828 | Missense_Mutation | CC | AA | p.1799_1800MG>IC |
| NCIH2110_LUNG | 103297741 | 103298009 | 103297828 | 103297828 | Missense_Mutation | C | A | p.M1799I |
| SNUC4_LARGE_INTESTINE | 103297741 | 103298009 | 103297841 | 103297841 | Missense_Mutation | A | G | p.I1795T |
| COLO680N_OESOPHAGUS | 103297741 | 103298009 | 103297847 | 103297847 | Missense_Mutation | C | T | p.R1793K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103297741 | 103298009 | 103297931 | 103297931 | Missense_Mutation | G | A | p.A1765V |
| JHH7_LIVER | 103297741 | 103298009 | 103297949 | 103297949 | Missense_Mutation | C | G | p.S1759T |
| AU565_BREAST | 103300383 | 103300494 | 103300455 | 103300455 | Missense_Mutation | G | T | p.H1585N |
| SKBR3_BREAST | 103300383 | 103300494 | 103300455 | 103300455 | Missense_Mutation | G | T | p.H1585N |
| HCC2450_LUNG | 103309121 | 103309212 | 103309203 | 103309203 | Missense_Mutation | C | G | p.E1195Q |
| DMS153_LUNG | 103323527 | 103323724 | 103323532 | 103323532 | Missense_Mutation | C | T | p.V871I |
| NCIH2009_LUNG | 103323527 | 103323724 | 103323535 | 103323535 | Missense_Mutation | C | A | p.A870S |
| KP3_PANCREAS | 103323527 | 103323724 | 103323600 | 103323600 | Missense_Mutation | A | G | p.V848A |
| OVCAR8_OVARY | 103323527 | 103323724 | 103323675 | 103323675 | Missense_Mutation | G | A | p.A823V |
| RERFLCAD2_LUNG | 103323527 | 103323724 | 103323688 | 103323688 | Missense_Mutation | T | C | p.I819V |
| SNUC4_LARGE_INTESTINE | 103323527 | 103323724 | 103323717 | 103323717 | Missense_Mutation | G | A | p.P809L |
| SW684_SOFT_TISSUE | 103323527 | 103323724 | 103323718 | 103323718 | Missense_Mutation | G | A | p.P809S |
| NCIH513_PLEURA | 103339970 | 103340124 | 103339973 | 103339973 | Missense_Mutation | C | A | p.W493L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103339970 | 103340124 | 103339998 | 103339998 | Missense_Mutation | C | T | p.A485T |
| GMEL_SKIN | 103339970 | 103340124 | 103340013 | 103340013 | Missense_Mutation | C | T | p.A480T |
| NCIH1623_LUNG | 103339970 | 103340124 | 103340036 | 103340036 | Missense_Mutation | C | A | p.R472L |
| NCIH1770_LUNG | 103341318 | 103341428 | 103341404 | 103341404 | Missense_Mutation | C | T | p.A414T |
| NCIH2106_LUNG | 103341318 | 103341428 | 103341404 | 103341404 | Missense_Mutation | C | T | p.A414T |
| HT115_LARGE_INTESTINE | 103341318 | 103341428 | 103341406 | 103341406 | Missense_Mutation | C | T | p.R413Q |
| HEC108_ENDOMETRIUM | 103359131 | 103359320 | 103359231 | 103359231 | Missense_Mutation | C | T | p.R159Q |
| KM12_LARGE_INTESTINE | 103300383 | 103300494 | 103300467 | 103300467 | Nonsense_Mutation | C | A | p.E1581* |
| HEC108_ENDOMETRIUM | 103279175 | 103279235 | 103279235 | 103279235 | Splice_Site | C | A | p.R2454R |
| SNU1040_LARGE_INTESTINE | 103300383 | 103300494 | 103300383 | 103300383 | Splice_Site | C | A | p.G1609W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBR5 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBR5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBR5 |
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RelatedDrugs for UBR5 |
| 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 UBR5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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