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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 UBR2 |
 Gene summary |
| Gene information | Gene symbol | UBR2 | Gene ID | 23304 |
| Gene name | ubiquitin protein ligase E3 component n-recognin 2 | |
| Synonyms | C6orf133|bA49A4.1|dJ242G1.1|dJ392M17.3 | |
| Cytomap | 6p21.1 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase UBR2RING-type E3 ubiquitin transferase UBR2ubiquitin-protein ligase E3-alpha-2ubiquitin-protein ligase E3-alpha-II | |
| Modification date | 20180529 | |
| UniProtAcc | Q8IWV8 | |
| Context | PubMed: UBR2 [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 |
| UBR2 | GO:0071233 | cellular response to leucine | 20298436 |
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Exon skipping events across known transcript of Ensembl for UBR2 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 UBR2 |
| 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 UBR2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_451655 | 6 | 42531799:42532135:42541471:42541731:42559888:42559967 | 42541471:42541731 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451656 | 6 | 42541471:42541731:42559888:42559967:42561928:42562042 | 42559888:42559967 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372903.2 |
| exon_skip_451660 | 6 | 42559888:42559967:42561928:42562042:42571325:42571456 | 42561928:42562042 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372903.2 |
| exon_skip_451661 | 6 | 42571325:42571456:42573458:42573597:42574326:42574389 | 42573458:42573597 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372903.2 |
| exon_skip_451662 | 6 | 42579908:42580029:42582808:42582916:42583739:42583828 | 42582808:42582916 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372903.2 |
| exon_skip_451664 | 6 | 42600542:42600642:42601985:42602032:42603155:42603284 | 42601985:42602032 | ENSG00000024048.6 | ENST00000372883.3 |
| exon_skip_451666 | 6 | 42604748:42604932:42607946:42608008:42609319:42609430 | 42607946:42608008 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451667 | 6 | 42610153:42610219:42611951:42612074:42612210:42612274 | 42611951:42612074 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451669 | 6 | 42611955:42612074:42612210:42612274:42613203:42613328 | 42612210:42612274 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451671 | 6 | 42615855:42615908:42618021:42618124:42619760:42619809 | 42618021:42618124 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451672 | 6 | 42618021:42618124:42619760:42619809:42620228:42620383 | 42619760:42619809 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451673 | 6 | 42620228:42620383:42623358:42623461:42625761:42625871 | 42623358:42623461 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451681 | 6 | 42631015:42631157:42633146:42633250:42633904:42633983 | 42633146:42633250 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451688 | 6 | 42641863:42641931:42643793:42643929:42644520:42644611 | 42643793:42643929 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451692 | 6 | 42647461:42647570:42650792:42650849:42652531:42652609 | 42650792:42650849 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451693 | 6 | 42650792:42650849:42652531:42652609:42655953:42656124 | 42652531:42652609 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451695 | 6 | 42652531:42652609:42655953:42656124:42657306:42657408 | 42655953:42656124 | ENSG00000024048.6 | ENST00000372883.3,ENST00000372899.1,ENST00000372901.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBR2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_451655 | 6 | 42531799:42532135:42541471:42541731:42559888:42559967 | 42541471:42541731 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451656 | 6 | 42541471:42541731:42559888:42559967:42561928:42562042 | 42559888:42559967 | ENSG00000024048.6 | ENST00000372903.2,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451660 | 6 | 42559888:42559967:42561928:42562042:42571325:42571456 | 42561928:42562042 | ENSG00000024048.6 | ENST00000372903.2,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451661 | 6 | 42571325:42571456:42573458:42573597:42574326:42574389 | 42573458:42573597 | ENSG00000024048.6 | ENST00000372903.2,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451662 | 6 | 42579908:42580029:42582808:42582916:42583739:42583828 | 42582808:42582916 | ENSG00000024048.6 | ENST00000372903.2,ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451664 | 6 | 42600542:42600642:42601985:42602032:42603155:42603284 | 42601985:42602032 | ENSG00000024048.6 | ENST00000372883.3 |
| exon_skip_451666 | 6 | 42604748:42604932:42607946:42608008:42609319:42609430 | 42607946:42608008 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451667 | 6 | 42610153:42610219:42611951:42612074:42612210:42612274 | 42611951:42612074 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451669 | 6 | 42611955:42612074:42612210:42612274:42613203:42613328 | 42612210:42612274 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451671 | 6 | 42615855:42615908:42618021:42618124:42619760:42619809 | 42618021:42618124 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451672 | 6 | 42618021:42618124:42619760:42619809:42620228:42620383 | 42619760:42619809 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451673 | 6 | 42620228:42620383:42623358:42623461:42625761:42625871 | 42623358:42623461 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451681 | 6 | 42631015:42631157:42633146:42633250:42633904:42633983 | 42633146:42633250 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451688 | 6 | 42641863:42641931:42643793:42643929:42644520:42644611 | 42643793:42643929 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1 |
| exon_skip_451692 | 6 | 42647461:42647570:42650792:42650849:42652531:42652609 | 42650792:42650849 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451693 | 6 | 42650792:42650849:42652531:42652609:42655953:42656124 | 42652531:42652609 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| exon_skip_451695 | 6 | 42652531:42652609:42655953:42656124:42657306:42657408 | 42655953:42656124 | ENSG00000024048.6 | ENST00000372899.1,ENST00000372901.1,ENST00000372883.3 |
| 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 UBR2 |
| 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 |
| ENST00000372899 | 42541471 | 42541731 | Frame-shift |
| ENST00000372899 | 42559888 | 42559967 | Frame-shift |
| ENST00000372899 | 42573458 | 42573597 | Frame-shift |
| ENST00000372899 | 42607946 | 42608008 | Frame-shift |
| ENST00000372899 | 42612210 | 42612274 | Frame-shift |
| ENST00000372899 | 42618021 | 42618124 | Frame-shift |
| ENST00000372899 | 42619760 | 42619809 | Frame-shift |
| ENST00000372899 | 42623358 | 42623461 | Frame-shift |
| ENST00000372899 | 42633146 | 42633250 | Frame-shift |
| ENST00000372899 | 42643793 | 42643929 | Frame-shift |
| ENST00000372899 | 42561928 | 42562042 | In-frame |
| ENST00000372899 | 42582808 | 42582916 | In-frame |
| ENST00000372899 | 42611951 | 42612074 | In-frame |
| ENST00000372899 | 42650792 | 42650849 | In-frame |
| ENST00000372899 | 42652531 | 42652609 | In-frame |
| ENST00000372899 | 42655953 | 42656124 | 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 |
| ENST00000372899 | 42541471 | 42541731 | Frame-shift |
| ENST00000372899 | 42559888 | 42559967 | Frame-shift |
| ENST00000372899 | 42573458 | 42573597 | Frame-shift |
| ENST00000372899 | 42607946 | 42608008 | Frame-shift |
| ENST00000372899 | 42612210 | 42612274 | Frame-shift |
| ENST00000372899 | 42618021 | 42618124 | Frame-shift |
| ENST00000372899 | 42619760 | 42619809 | Frame-shift |
| ENST00000372899 | 42623358 | 42623461 | Frame-shift |
| ENST00000372899 | 42633146 | 42633250 | Frame-shift |
| ENST00000372899 | 42643793 | 42643929 | Frame-shift |
| ENST00000372899 | 42561928 | 42562042 | In-frame |
| ENST00000372899 | 42582808 | 42582916 | In-frame |
| ENST00000372899 | 42611951 | 42612074 | In-frame |
| ENST00000372899 | 42650792 | 42650849 | In-frame |
| ENST00000372899 | 42652531 | 42652609 | In-frame |
| ENST00000372899 | 42655953 | 42656124 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBR2 |
| 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 |
| ENST00000372899 | 7874 | 1755 | 42561928 | 42562042 | 676 | 789 | 139 | 177 |
| ENST00000372899 | 7874 | 1755 | 42582808 | 42582916 | 1244 | 1351 | 328 | 364 |
| ENST00000372899 | 7874 | 1755 | 42611951 | 42612074 | 2356 | 2478 | 699 | 740 |
| ENST00000372899 | 7874 | 1755 | 42650792 | 42650849 | 4977 | 5033 | 1573 | 1591 |
| ENST00000372899 | 7874 | 1755 | 42652531 | 42652609 | 5034 | 5111 | 1592 | 1617 |
| ENST00000372899 | 7874 | 1755 | 42655953 | 42656124 | 5112 | 5282 | 1618 | 1674 |
| 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 |
| ENST00000372899 | 7874 | 1755 | 42561928 | 42562042 | 676 | 789 | 139 | 177 |
| ENST00000372899 | 7874 | 1755 | 42582808 | 42582916 | 1244 | 1351 | 328 | 364 |
| ENST00000372899 | 7874 | 1755 | 42611951 | 42612074 | 2356 | 2478 | 699 | 740 |
| ENST00000372899 | 7874 | 1755 | 42650792 | 42650849 | 4977 | 5033 | 1573 | 1591 |
| ENST00000372899 | 7874 | 1755 | 42652531 | 42652609 | 5034 | 5111 | 1592 | 1617 |
| ENST00000372899 | 7874 | 1755 | 42655953 | 42656124 | 5112 | 5282 | 1618 | 1674 |
| 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 |
| Q8IWV8 | 139 | 177 | 1 | 496 | Alternative sequence | ID=VSP_015166;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 139 | 177 | 138 | 142 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 157 | 159 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 139 | 177 | 172 | 172 | Natural variant | ID=VAR_052117;Note=E->D;Dbxref=dbSNP:rs6905054 |
| Q8IWV8 | 139 | 177 | 154 | 156 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 164 | 166 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 97 | 168 | Zinc finger | Note=UBR-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00508 |
| Q8IWV8 | 328 | 364 | 1 | 496 | Alternative sequence | ID=VSP_015166;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 328 | 364 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 699 | 740 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 699 | 740 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 1573 | 1591 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 1573 | 1591 | 1072 | 1755 | Alternative sequence | ID=VSP_015171;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 1573 | 1591 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 1592 | 1617 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 1592 | 1617 | 1072 | 1755 | Alternative sequence | ID=VSP_015171;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 1592 | 1617 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 1618 | 1674 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 1618 | 1674 | 1072 | 1755 | Alternative sequence | ID=VSP_015171;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 1618 | 1674 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| 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 |
| Q8IWV8 | 139 | 177 | 1 | 496 | Alternative sequence | ID=VSP_015166;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 139 | 177 | 138 | 142 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 157 | 159 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 139 | 177 | 172 | 172 | Natural variant | ID=VAR_052117;Note=E->D;Dbxref=dbSNP:rs6905054 |
| Q8IWV8 | 139 | 177 | 154 | 156 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 164 | 166 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5TDA |
| Q8IWV8 | 139 | 177 | 97 | 168 | Zinc finger | Note=UBR-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00508 |
| Q8IWV8 | 328 | 364 | 1 | 496 | Alternative sequence | ID=VSP_015166;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 328 | 364 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 699 | 740 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 699 | 740 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 1573 | 1591 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 1573 | 1591 | 1072 | 1755 | Alternative sequence | ID=VSP_015171;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 1573 | 1591 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 1592 | 1617 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 1592 | 1617 | 1072 | 1755 | Alternative sequence | ID=VSP_015171;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 1592 | 1617 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
| Q8IWV8 | 1618 | 1674 | 440 | 1755 | Alternative sequence | ID=VSP_015168;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8IWV8 | 1618 | 1674 | 1072 | 1755 | Alternative sequence | ID=VSP_015171;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWV8 | 1618 | 1674 | 2 | 1755 | Chain | ID=PRO_0000056140;Note=E3 ubiquitin-protein ligase UBR2 |
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SNVs in the skipped exons for UBR2 |
| - 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. |
UBR2_STAD_exon_skip_451660_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-A39Y-01 | exon_skip_451656 | 42559889 | 42559967 | 42559932 | 42559932 | Frame_Shift_Del | T | - | p.F128fs |
| STAD | TCGA-CD-5813-01 | exon_skip_451660 | 42561929 | 42562042 | 42562022 | 42562061 | Frame_Shift_Del | TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA | - | p.170_177del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_451662 | 42582809 | 42582916 | 42582863 | 42582863 | Frame_Shift_Del | A | - | p.E347fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_451671 | 42618022 | 42618124 | 42618074 | 42618074 | Frame_Shift_Del | A | - | p.K839fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_451673 | 42623359 | 42623461 | 42623403 | 42623403 | Frame_Shift_Del | T | - | p.H938fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_451655 | 42541472 | 42541731 | 42541570 | 42541571 | Frame_Shift_Ins | - | A | p.R60fs |
| BLCA | TCGA-ZF-AA4V-01 | exon_skip_451655 | 42541472 | 42541731 | 42541690 | 42541690 | Nonsense_Mutation | T | A | p.C99* |
| STAD | TCGA-BR-6452-01 | exon_skip_451660 | 42561929 | 42562042 | 42562040 | 42562040 | Nonsense_Mutation | G | T | p.E177* |
| STAD | TCGA-BR-6452-01 | exon_skip_451660 | 42561929 | 42562042 | 42562040 | 42562040 | Nonsense_Mutation | G | T | p.E177X |
| HNSC | TCGA-IQ-A61E-01 | exon_skip_451661 | 42573459 | 42573597 | 42573562 | 42573562 | Nonsense_Mutation | G | T | p.E256* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_451661 | 42573459 | 42573597 | 42573592 | 42573592 | Nonsense_Mutation | C | T | p.R266* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_451693 | 42652532 | 42652609 | 42652555 | 42652555 | Nonsense_Mutation | T | G | p.L1600* |
| SKCM | TCGA-D3-A1QA-06 | exon_skip_451695 | 42655954 | 42656124 | 42656009 | 42656009 | Nonsense_Mutation | G | T | p.G1637X |
| SKCM | TCGA-ER-A19Q-06 | exon_skip_451695 | 42655954 | 42656124 | 42656027 | 42656027 | Nonsense_Mutation | C | T | p.Q1643* |
| SKCM | TCGA-ER-A19Q-06 | exon_skip_451695 | 42655954 | 42656124 | 42656027 | 42656027 | Nonsense_Mutation | C | T | p.Q1643X |
| KIRP | TCGA-BQ-7048-01 | exon_skip_451667 | 42611952 | 42612074 | 42611951 | 42611951 | Splice_Site | G | - | p.T700_splice |
| ESCA | TCGA-R6-A6Y0-01 | exon_skip_451693 | 42652532 | 42652609 | 42652531 | 42652531 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CD-5813-01 |
| Cancer type: STAD | |
| ESID: exon_skip_451660 | |
| Skipped exon start: 42561929 | |
| Skipped exon end: 42562042 | |
| Mutation start: 42562022 | |
| Mutation end: 42562061 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: TCTGAAATTGAGGAAGAAGAGGTAAAAACATTTTCACAAA | |
| Mutation seq: - | |
| AAchange: p.170_177del | |
exon_skip_451660_STAD_TCGA-CD-5813-01.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 |
| SNU175_LARGE_INTESTINE | 42559889 | 42559967 | 42559932 | 42559932 | Frame_Shift_Del | T | - | p.F128fs |
| CW2_LARGE_INTESTINE | 42573459 | 42573597 | 42573557 | 42573557 | Frame_Shift_Del | A | - | p.Q254fs |
| HT115_LARGE_INTESTINE | 42559889 | 42559967 | 42559960 | 42559960 | Missense_Mutation | G | A | p.R137Q |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42561929 | 42562042 | 42561932 | 42561932 | Missense_Mutation | A | G | p.T141A |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42573459 | 42573597 | 42573568 | 42573568 | Missense_Mutation | A | G | p.I258V |
| NB6_AUTONOMIC_GANGLIA | 42573459 | 42573597 | 42573595 | 42573595 | Missense_Mutation | G | A | p.D267N |
| BFTC909_KIDNEY | 42582809 | 42582916 | 42582821 | 42582821 | Missense_Mutation | G | T | p.R333L |
| SKPNDW_BONE | 42582809 | 42582916 | 42582884 | 42582884 | Missense_Mutation | G | T | p.R354I |
| SNU1040_LARGE_INTESTINE | 42607947 | 42608008 | 42607998 | 42607998 | Missense_Mutation | T | C | p.L637P |
| SNU349_KIDNEY | 42611952 | 42612074 | 42611967 | 42611967 | Missense_Mutation | A | G | p.M705V |
| QGP1_PANCREAS | 42612211 | 42612274 | 42612262 | 42612262 | Missense_Mutation | A | G | p.I758V |
| IGROV1_OVARY | 42618022 | 42618124 | 42618044 | 42618044 | Missense_Mutation | G | T | p.G829C |
| TE4_OESOPHAGUS | 42619761 | 42619809 | 42619777 | 42619777 | Missense_Mutation | G | T | p.R861L |
| H290_PLEURA | 42619761 | 42619809 | 42619786 | 42619786 | Missense_Mutation | A | G | p.K864R |
| SNU175_LARGE_INTESTINE | 42623359 | 42623461 | 42623380 | 42623380 | Missense_Mutation | G | A | p.A931T |
| MM127_SKIN | 42623359 | 42623461 | 42623397 | 42623397 | Missense_Mutation | A | T | p.K936N |
| SNU81_LARGE_INTESTINE | 42623359 | 42623461 | 42623427 | 42623427 | Missense_Mutation | T | A | p.H946Q |
| SNU601_STOMACH | 42643794 | 42643929 | 42643896 | 42643896 | Missense_Mutation | C | A | p.H1452N |
| TOV21G_OVARY | 42655954 | 42656124 | 42656030 | 42656030 | Missense_Mutation | A | G | p.S1644G |
| HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42655954 | 42656124 | 42656099 | 42656099 | Missense_Mutation | G | C | p.G1667R |
| SW48_LARGE_INTESTINE | 42655954 | 42656124 | 42656121 | 42656121 | Missense_Mutation | T | C | p.L1674P |
| HEC108_ENDOMETRIUM | 42618022 | 42618124 | 42618041 | 42618041 | Nonsense_Mutation | C | T | p.R828* |
| LU65_LUNG | 42618022 | 42618124 | 42618124 | 42618124 | Splice_Site | G | T | p.K855N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBR2 |
| 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 UBR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBR2 |
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RelatedDrugs for UBR2 |
| 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 UBR2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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