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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200315 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for UBR5 |
| 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. |
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ENSG00000104517
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000519365.1 | UBR5-205:protein_coding:UBR5 | 2.949793e+00 | 1.518451e+00 | 3.657816e-11 | 2.767654e-09 |
| CB | DOWN | ENST00000520820.2 | UBR5-AS1-202:lncRNA:UBR5 | 2.575862e+02 | -1.592984e+00 | 1.303927e-10 | 7.896903e-09 |
| CB | UP | ENST00000521922.5 | UBR5-212:protein_coding:UBR5 | 1.572937e+02 | 9.667835e-01 | 3.596011e-05 | 3.113391e-04 |
| TC | DOWN | ENST00000520820.2 | UBR5-AS1-202:lncRNA:UBR5 | 1.179083e+02 | -1.214189e+00 | 4.113449e-16 | 4.490711e-13 |
| TC | UP | ENST00000519365.1 | UBR5-205:protein_coding:UBR5 | 1.398367e+00 | 1.076091e+00 | 4.928153e-04 | 5.688010e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for UBR5 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_116884 | chr8 | 102298867:102298971:102299452:102299496:102300000:102300151 | 102299452:102299496 |
| exon_skip_14080 | chr8 | 102346236:102346395:102346903:102347092:102360071:102360190 | 102346903:102347092 |
| exon_skip_142448 | chr8 | 102261915:102262070:102264474:102264558:102265100:102265275 | 102264474:102264558 |
| exon_skip_159358 | chr8 | 102298867:102298971:102299452:102299547:102300000:102300151 | 102299452:102299547 |
| exon_skip_170537 | chr8 | 102295636:102295782:102296893:102296984:102297458:102297606 | 102296893:102296984 |
| exon_skip_171728 | chr8 | 102286360:102286617:102287433:102287564:102288155:102288266 | 102287433:102287564 |
| exon_skip_179319 | chr8 | 102257632:102257717:102258316:102258424:102258985:102259129 | 102258316:102258424 |
| exon_skip_183496 | chr8 | 102342473:102342684:102345396:102345545:102346236:102346395 | 102345396:102345545 |
| exon_skip_203646 | chr8 | 102361125:102361206:102361582:102361626:102412173:102412689 | 102361582:102361626 |
| exon_skip_213681 | chr8 | 102304043:102304169:102305085:102305295:102311299:102311496 | 102305085:102305295 |
| exon_skip_213891 | chr8 | 102314744:102314853:102323311:102323495:102326546:102326663 | 102323311:102323495 |
| exon_skip_269647 | chr8 | 102265100:102265275:102266947:102267007:102268978:102269108 | 102266947:102267007 |
| exon_skip_29130 | chr8 | 102326546:102326663:102327742:102327896:102329090:102329200 | 102327742:102327896 |
| exon_skip_33672 | chr8 | 102258985:102259129:102261146:102261259:102261915:102261986 | 102261146:102261259 |
| exon_skip_51006 | chr8 | 102279036:102279208:102280394:102280467:102281289:102281519 | 102280394:102280467 |
| exon_skip_54317 | chr8 | 102265208:102265278:102266947:102267007:102268978:102269108 | 102266947:102267007 |
| exon_skip_64927 | chr8 | 102327742:102327896:102329090:102329200:102329283:102329399 | 102329090:102329200 |
| 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 |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000520539 | 102264474 | 102264558 | Frame-shift |
| ENST00000520539 | 102327742 | 102327896 | Frame-shift |
| ENST00000520539 | 102261146 | 102261259 | In-frame |
| ENST00000520539 | 102287433 | 102287564 | In-frame |
| ENST00000520539 | 102329090 | 102329200 | 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 |
| ENST00000520539 | 102264474 | 102264558 | Frame-shift |
| ENST00000520539 | 102280394 | 102280467 | Frame-shift |
| ENST00000520539 | 102323311 | 102323495 | Frame-shift |
| ENST00000520539 | 102327742 | 102327896 | Frame-shift |
| ENST00000520539 | 102329090 | 102329200 | 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 |
| ENST00000520539 | 102264474 | 102264558 | Frame-shift |
| ENST00000520539 | 102266947 | 102267007 | Frame-shift |
| ENST00000520539 | 102296893 | 102296984 | Frame-shift |
| ENST00000520539 | 102305085 | 102305295 | Frame-shift |
| ENST00000520539 | 102327742 | 102327896 | Frame-shift |
| ENST00000520539 | 102346903 | 102347092 | Frame-shift |
| ENST00000520539 | 102261146 | 102261259 | In-frame |
| ENST00000520539 | 102299452 | 102299547 | In-frame |
| ENST00000520539 | 102329090 | 102329200 | In-frame |
| ENST00000520539 | 102345396 | 102345545 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBR5 |
p-ENSG00000104517_img4.png |
| 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 |
| ENST00000520539 | 10314 | 2799 | 102329090 | 102329200 | 1823 | 1932 | 405 | 441 |
| ENST00000520539 | 10314 | 2799 | 102287433 | 102287564 | 5433 | 5563 | 1608 | 1652 |
| ENST00000520539 | 10314 | 2799 | 102261146 | 102261259 | 8450 | 8562 | 2614 | 2651 |
| 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 |
| ENST00000520539 | 10314 | 2799 | 102329090 | 102329200 | 1823 | 1932 | 405 | 441 |
| 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 |
| ENST00000520539 | 10314 | 2799 | 102345396 | 102345545 | 1344 | 1492 | 245 | 295 |
| ENST00000520539 | 10314 | 2799 | 102329090 | 102329200 | 1823 | 1932 | 405 | 441 |
| ENST00000520539 | 10314 | 2799 | 102299452 | 102299547 | 3714 | 3808 | 1035 | 1067 |
| ENST00000520539 | 10314 | 2799 | 102261146 | 102261259 | 8450 | 8562 | 2614 | 2651 |
| 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 |
| O95071 | 405 | 441 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 1608 | 1652 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2614 | 2651 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2614 | 2651 | 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 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 |
| O95071 | 405 | 441 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| 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 |
| O95071 | 245 | 295 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 245 | 295 | 258 | 258 | Sequence conflict | Note=S->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O95071 | 405 | 441 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 1035 | 1067 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2614 | 2651 | 2 | 2799 | Chain | ID=PRO_0000086931;Note=E3 ubiquitin-protein ligase UBR5 |
| O95071 | 2614 | 2651 | 2462 | 2799 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
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3'-UTR located exon skipping events that lost miRNA binding sites in UBR5 |
| 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 |
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SNVs in the skipped exons for UBR5 |
| - 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 |
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AD stage-associated exon skippint events for UBR5 |
| 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 |
| CDR | MSBB | IFG | exon_skip_78253 | 4.817638e-01 | 9.435306e-03 | chr8 | - | 102300000 | 102300151 | 102302271 | 102302481 | 102304043 | 102304166 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBR5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for UBR5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_142448 | -4.112627e-01 | 7.239613e-08 |
| CB | TRA2A | exon_skip_142448 | -5.413287e-01 | 1.742331e-13 |
| CB | ELAVL1 | exon_skip_213681 | -4.263844e-01 | 3.098898e-07 |
| CB | ZNF638 | exon_skip_213681 | -4.997959e-01 | 9.091160e-10 |
| CB | CNOT4 | exon_skip_213681 | -5.378839e-01 | 2.447890e-11 |
| CB | PCBP1 | exon_skip_213681 | -4.298114e-01 | 2.430976e-07 |
| CB | PCBP4 | exon_skip_213681 | 4.222092e-01 | 4.150374e-07 |
| CB | TRA2A | exon_skip_213681 | -5.709471e-01 | 7.201290e-13 |
| CB | KHSRP | exon_skip_213681 | -4.135447e-01 | 7.516311e-07 |
| CB | RBM4 | exon_skip_213681 | -6.963084e-01 | 1.343332e-20 |
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RelatedDrugs for UBR5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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