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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 UBA6 |
 Gene summary |
| Gene information | Gene symbol | UBA6 | Gene ID | 55236 |
| Gene name | ubiquitin like modifier activating enzyme 6 | |
| Synonyms | E1-L2|MOP-4|UBE1L2 | |
| Cytomap | 4q13.2 | |
| Type of gene | protein-coding | |
| Description | ubiquitin-like modifier-activating enzyme 6UBA6, ubiquitin-activating enzyme E1monocyte protein 4ubiquitin-activating enzyme 6ubiquitin-activating enzyme E1-like 2ubiquitin-activating enzyme E1-like protein 2 | |
| Modification date | 20200313 | |
| 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 |
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Gene structures and expression levels for UBA6 |
| 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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ENSG00000033178
| 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 | DOWN | ENST00000498917.2 | UBA6-AS1-201:lncRNA:UBA6 | 1.659592e+01 | -1.128824e+00 | 5.609863e-04 | 3.177350e-03 |
| CB | UP | ENST00000514261.1 | UBA6-206:nonsense_mediated_decay:UBA6 | 2.679151e+01 | 8.286877e-01 | 8.715656e-04 | 4.599246e-03 |
| CB | UP | ENST00000506571.1 | UBA6-205:retained_intron:UBA6 | 6.659636e-01 | 2.196987e+00 | 7.244787e-03 | 2.668736e-02 |
| 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 UBA6 |
| 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_135115 | chr4 | 67634429:67634518:67635453:67635558:67638943:67639124 | 67635453:67635558 |
| exon_skip_151200 | chr4 | 67638943:67639124:67641151:67641228:67644698:67644774 | 67641151:67641228 |
| exon_skip_167775 | chr4 | 67624994:67625187:67626360:67626477:67629071:67629105 | 67626360:67626477 |
| exon_skip_210661 | chr4 | 67645938:67646016:67646724:67646791:67649068:67649211 | 67646724:67646791 |
| exon_skip_262663 | chr4 | 67626360:67626477:67629071:67629142:67630466:67630535 | 67629071:67629142 |
| exon_skip_268937 | chr4 | 67624994:67625187:67626360:67626477:67629071:67629142 | 67626360:67626477 |
| exon_skip_287243 | chr4 | 67623135:67623222:67624126:67624253:67624994:67625155 | 67624126:67624253 |
| exon_skip_57702 | chr4 | 67662189:67662255:67663139:67663215:67663885:67663947 | 67663139:67663215 |
| exon_skip_84207 | chr4 | 67682119:67682213:67696645:67696707:67701049:67701142 | 67696645:67696707 |
| 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 UBA6 |
| 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 |
| ENST00000322244 | 67624126 | 67624253 | Frame-shift |
| ENST00000322244 | 67626360 | 67626477 | Frame-shift |
| ENST00000322244 | 67646724 | 67646791 | Frame-shift |
| ENST00000322244 | 67663139 | 67663215 | Frame-shift |
| ENST00000322244 | 67641151 | 67641228 | 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 |
| ENST00000322244 | 67626360 | 67626477 | Frame-shift |
| ENST00000322244 | 67663139 | 67663215 | Frame-shift |
| ENST00000322244 | 67641151 | 67641228 | 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 |
| ENST00000322244 | 67626360 | 67626477 | Frame-shift |
| ENST00000322244 | 67635453 | 67635558 | Frame-shift |
| ENST00000322244 | 67646724 | 67646791 | Frame-shift |
| ENST00000322244 | 67663139 | 67663215 | Frame-shift |
| ENST00000322244 | 67629071 | 67629142 | In-frame |
| ENST00000322244 | 67641151 | 67641228 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBA6 |
p-ENSG00000033178_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 |
| ENST00000322244 | 9581 | 1052 | 67641151 | 67641228 | 1537 | 1613 | 492 | 517 |
| 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 |
| ENST00000322244 | 9581 | 1052 | 67641151 | 67641228 | 1537 | 1613 | 492 | 517 |
| 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 |
| ENST00000322244 | 9581 | 1052 | 67641151 | 67641228 | 1537 | 1613 | 492 | 517 |
| ENST00000322244 | 9581 | 1052 | 67629071 | 67629142 | 2389 | 2459 | 776 | 799 |
| 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 |
| A0AVT1 | 492 | 517 | 341 | 1052 | Alternative sequence | ID=VSP_023085;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A0AVT1 | 492 | 517 | 390 | 1052 | Alternative sequence | ID=VSP_023087;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AVT1 | 492 | 517 | 497 | 497 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22515 |
| A0AVT1 | 492 | 517 | 508 | 508 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22515 |
| A0AVT1 | 492 | 517 | 1 | 1052 | Chain | ID=PRO_0000277797;Note=Ubiquitin-like modifier-activating enzyme 6 |
| 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 |
| A0AVT1 | 492 | 517 | 341 | 1052 | Alternative sequence | ID=VSP_023085;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A0AVT1 | 492 | 517 | 390 | 1052 | Alternative sequence | ID=VSP_023087;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AVT1 | 492 | 517 | 497 | 497 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22515 |
| A0AVT1 | 492 | 517 | 508 | 508 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22515 |
| A0AVT1 | 492 | 517 | 1 | 1052 | Chain | ID=PRO_0000277797;Note=Ubiquitin-like modifier-activating enzyme 6 |
| 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 |
| A0AVT1 | 492 | 517 | 341 | 1052 | Alternative sequence | ID=VSP_023085;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A0AVT1 | 492 | 517 | 390 | 1052 | Alternative sequence | ID=VSP_023087;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AVT1 | 492 | 517 | 497 | 497 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22515 |
| A0AVT1 | 492 | 517 | 508 | 508 | Binding site | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P22515 |
| A0AVT1 | 492 | 517 | 1 | 1052 | Chain | ID=PRO_0000277797;Note=Ubiquitin-like modifier-activating enzyme 6 |
| A0AVT1 | 776 | 799 | 341 | 1052 | Alternative sequence | ID=VSP_023085;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A0AVT1 | 776 | 799 | 390 | 1052 | Alternative sequence | ID=VSP_023087;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| A0AVT1 | 776 | 799 | 1 | 1052 | Chain | ID=PRO_0000277797;Note=Ubiquitin-like modifier-activating enzyme 6 |
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3'-UTR located exon skipping events that lost miRNA binding sites in UBA6 |
| 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 UBA6 |
| - 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 UBA6 |
| 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 UBA6 |
| 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 UBA6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_151200 | -4.446322e-01 | 1.681683e-08 |
| CB | TARDBP | exon_skip_210661 | -4.709446e-01 | 8.195340e-09 |
| CB | MATR3 | exon_skip_210661 | -4.006592e-01 | 1.470221e-06 |
| CB | TRA2A | exon_skip_210661 | -5.128238e-01 | 2.030874e-10 |
| IFG | CNOT4 | exon_skip_151200 | -4.262186e-01 | 2.372125e-02 |
| IFG | TRNAU1AP | exon_skip_151200 | -4.480719e-01 | 1.679324e-02 |
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RelatedDrugs for UBA6 |
| 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 UBA6 |
| 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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