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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 UBE2L3 |
 Gene summary |
| Gene information | Gene symbol | UBE2L3 | Gene ID | 7332 |
| Gene name | ubiquitin conjugating enzyme E2 L3 | |
| Synonyms | E2-F1|L-UBC|UBCH7|UbcM4 | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | ubiquitin-conjugating enzyme E2 L3E2 ubiquitin-conjugating enzyme L3ubiquitin carrier protein L3ubiquitin conjugating enzyme E2L 3ubiquitin-conjugating enzyme E2-F1ubiquitin-conjugating enzyme UBCH7ubiquitin-protein ligase L3 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R1A4, P68036, | |
| Context | - 30859738(Shared genes between Alzheimer's disease and ischemic stroke) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| UBE2L3 | GO:0000209 | protein polyubiquitination | 10888878|14765125 |
| UBE2L3 | GO:0006355 | regulation of transcription, DNA-templated | 17003263 |
| UBE2L3 | GO:0016567 | protein ubiquitination | 9990509|21532592 |
| UBE2L3 | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
| UBE2L3 | GO:0071385 | cellular response to glucocorticoid stimulus | 17003263 |
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Gene structures and expression levels for UBE2L3 |
| 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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ENSG00000185651
| 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 | ENST00000496722.1 | UBE2L3-203:retained_intron:UBE2L3 | 1.193331e+02 | 1.121945e+00 | 5.752948e-12 | 6.203384e-10 |
| CB | DOWN | ENST00000545681.2 | UBE2L3-204:protein_coding:UBE2L3 | 3.731457e+02 | -9.696052e-01 | 6.841350e-07 | 1.085393e-05 |
| 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 UBE2L3 |
| 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_204169 | chr22 | 21567730:21568377:21592861:21592956:21610857:21611043 | 21592861:21592956 |
| exon_skip_213456 | chr22 | 21567547:21567771:21592861:21592956:21610857:21611043 | 21592861:21592956 |
| exon_skip_280909 | chr22 | 21567547:21567771:21592861:21592956:21610857:21610943 | 21592861:21592956 |
| 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 UBE2L3 |
| 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 |
| ENST00000342192 | 21592861 | 21592956 | 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 |
| ENST00000342192 | 21592861 | 21592956 | 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 |
| ENST00000342192 | 21592861 | 21592956 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBE2L3 |
p-ENSG00000185651_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 |
| ENST00000342192 | 3045 | 154 | 21592861 | 21592956 | 227 | 321 | 9 | 41 |
| 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 |
| ENST00000342192 | 3045 | 154 | 21592861 | 21592956 | 227 | 321 | 9 | 41 |
| 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 |
| ENST00000342192 | 3045 | 154 | 21592861 | 21592956 | 227 | 321 | 9 | 41 |
| 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 |
| P68036 | 9 | 41 | 1 | 9 | Alternative sequence | ID=VSP_047342;Note=In isoform 3. MAASRRLMK->MQVAAGTRGDTRLQEVALLPQLFDLLVLGQRRARLLRQVPSALAGKDLAQLQAGATLAGYRRAHGPE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P68036 | 9 | 41 | 10 | 41 | Alternative sequence | ID=VSP_045152;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P68036 | 9 | 41 | 20 | 27 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 34 | 39 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 1 | 154 | Chain | ID=PRO_0000082476;Note=Ubiquitin-conjugating enzyme E2 L3 |
| P68036 | 9 | 41 | 1 | 17 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 9 | 9 | Mutagenesis | Note=Marked decrease in autoubiquitination. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22496338;Dbxref=PMID:22496338 |
| P68036 | 9 | 41 | 15 | 15 | Sequence conflict | Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P68036 | 9 | 41 | 23 | 23 | Sequence conflict | Note=R->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P68036 | 9 | 41 | 29 | 31 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FBV |
| 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 |
| P68036 | 9 | 41 | 1 | 9 | Alternative sequence | ID=VSP_047342;Note=In isoform 3. MAASRRLMK->MQVAAGTRGDTRLQEVALLPQLFDLLVLGQRRARLLRQVPSALAGKDLAQLQAGATLAGYRRAHGPE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P68036 | 9 | 41 | 10 | 41 | Alternative sequence | ID=VSP_045152;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P68036 | 9 | 41 | 20 | 27 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 34 | 39 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 1 | 154 | Chain | ID=PRO_0000082476;Note=Ubiquitin-conjugating enzyme E2 L3 |
| P68036 | 9 | 41 | 1 | 17 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 9 | 9 | Mutagenesis | Note=Marked decrease in autoubiquitination. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22496338;Dbxref=PMID:22496338 |
| P68036 | 9 | 41 | 15 | 15 | Sequence conflict | Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P68036 | 9 | 41 | 23 | 23 | Sequence conflict | Note=R->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P68036 | 9 | 41 | 29 | 31 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FBV |
| 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 |
| P68036 | 9 | 41 | 1 | 9 | Alternative sequence | ID=VSP_047342;Note=In isoform 3. MAASRRLMK->MQVAAGTRGDTRLQEVALLPQLFDLLVLGQRRARLLRQVPSALAGKDLAQLQAGATLAGYRRAHGPE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P68036 | 9 | 41 | 10 | 41 | Alternative sequence | ID=VSP_045152;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P68036 | 9 | 41 | 20 | 27 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 34 | 39 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 1 | 154 | Chain | ID=PRO_0000082476;Note=Ubiquitin-conjugating enzyme E2 L3 |
| P68036 | 9 | 41 | 1 | 17 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4Q5E |
| P68036 | 9 | 41 | 9 | 9 | Mutagenesis | Note=Marked decrease in autoubiquitination. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22496338;Dbxref=PMID:22496338 |
| P68036 | 9 | 41 | 15 | 15 | Sequence conflict | Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P68036 | 9 | 41 | 23 | 23 | Sequence conflict | Note=R->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P68036 | 9 | 41 | 29 | 31 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1FBV |
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3'-UTR located exon skipping events that lost miRNA binding sites in UBE2L3 |
| 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 UBE2L3 |
| - 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 UBE2L3 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBE2L3 |
| 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 UBE2L3 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_280909 | -4.425218e-01 | 5.209338e-09 |
| CB | KHSRP | exon_skip_280909 | -4.354619e-01 | 9.663391e-09 |
| CB | RBM4B | exon_skip_280909 | -5.157700e-01 | 3.466397e-12 |
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RelatedDrugs for UBE2L3 |
| 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 UBE2L3 |
| 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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