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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 AUH |
 Gene summary |
| Gene information | Gene symbol | AUH | Gene ID | 549 |
| Gene name | AU RNA binding methylglutaconyl-CoA hydratase | |
| Synonyms | - | |
| Cytomap | 9q22.31 | |
| Type of gene | protein-coding | |
| Description | methylglutaconyl-CoA hydratase, mitochondrial3-methylglutaconyl-CoA hydrataseAU RNA binding protein/enoyl-CoA hydrataseAU RNA-binding protein/enoyl-Coenzyme A hydrataseAU-binding protein/Enoyl-CoA hydrataseAU-specific RNA-binding enoyl-CoA hydratase | |
| Modification date | 20200313 | |
| UniProtAcc | Q13825, | |
| 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 AUH |
| 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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ENSG00000148090
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 AUH |
| 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_171748 | chr9 | 91355883:91355970:91356088:91356155:91361628:91361887 | 91356088:91356155 |
| exon_skip_172189 | chr9 | 91296021:91296077:91297984:91298076:91325318:91325404 | 91297984:91298076 |
| exon_skip_21338 | chr9 | 91220805:91220992:91296021:91296077:91297984:91298076 | 91296021:91296077 |
| exon_skip_237927 | chr9 | 91356088:91356155:91360279:91360440:91361628:91361887 | 91360279:91360440 |
| exon_skip_256844 | chr9 | 91297991:91298076:91325318:91325404:91355883:91355970 | 91325318:91325404 |
| exon_skip_275948 | chr9 | 91213960:91214425:91217277:91217327:91220805:91220919 | 91217277:91217327 |
| exon_skip_81778 | chr9 | 91213960:91214425:91216059:91216106:91217277:91217327 | 91216059:91216106 |
| 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 AUH |
| 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 |
| ENST00000375731 | 91216059 | 91216106 | In-frame |
| ENST00000375731 | 91296021 | 91296077 | In-frame |
| ENST00000375731 | 91325318 | 91325404 | 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 |
| ENST00000375731 | 91216059 | 91216106 | In-frame |
| ENST00000375731 | 91325318 | 91325404 | 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 |
| ENST00000375731 | 91216059 | 91216106 | In-frame |
| ENST00000375731 | 91296021 | 91296077 | In-frame |
| ENST00000375731 | 91297984 | 91298076 | In-frame |
| ENST00000375731 | 91325318 | 91325404 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AUH |
p-ENSG00000148090_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 |
| ENST00000375731 | 1594 | 339 | 91325318 | 91325404 | 443 | 528 | 139 | 168 |
| ENST00000375731 | 1594 | 339 | 91296021 | 91296077 | 623 | 678 | 199 | 218 |
| ENST00000375731 | 1594 | 339 | 91216059 | 91216106 | 919 | 965 | 298 | 313 |
| 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 |
| ENST00000375731 | 1594 | 339 | 91325318 | 91325404 | 443 | 528 | 139 | 168 |
| ENST00000375731 | 1594 | 339 | 91216059 | 91216106 | 919 | 965 | 298 | 313 |
| 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 |
| ENST00000375731 | 1594 | 339 | 91325318 | 91325404 | 443 | 528 | 139 | 168 |
| ENST00000375731 | 1594 | 339 | 91297984 | 91298076 | 530 | 621 | 168 | 199 |
| ENST00000375731 | 1594 | 339 | 91296021 | 91296077 | 623 | 678 | 199 | 218 |
| ENST00000375731 | 1594 | 339 | 91216059 | 91216106 | 919 | 965 | 298 | 313 |
| 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 |
| Q13825 | 139 | 168 | 140 | 168 | Alternative sequence | ID=VSP_008336;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13825 | 139 | 168 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 139 | 168 | 143 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 139 | 168 | 151 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 139 | 168 | 144 | 144 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 144 | 144 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 148 | 148 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 160 | 160 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 194 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 204 | 206 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 199 | 218 | 209 | 212 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 204 | 204 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 204 | 204 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 211 | 211 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 211 | 211 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 298 | 313 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 298 | 313 | 301 | 313 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| 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 |
| Q13825 | 139 | 168 | 140 | 168 | Alternative sequence | ID=VSP_008336;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13825 | 139 | 168 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 139 | 168 | 143 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 139 | 168 | 151 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 139 | 168 | 144 | 144 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 144 | 144 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 148 | 148 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 160 | 160 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 298 | 313 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 298 | 313 | 301 | 313 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| 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 |
| Q13825 | 139 | 168 | 140 | 168 | Alternative sequence | ID=VSP_008336;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13825 | 139 | 168 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 139 | 168 | 143 | 146 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 139 | 168 | 151 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 139 | 168 | 144 | 144 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 144 | 144 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 148 | 148 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 139 | 168 | 160 | 160 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 168 | 199 | 140 | 168 | Alternative sequence | ID=VSP_008336;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13825 | 168 | 199 | 175 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 168 | 199 | 194 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 168 | 199 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 168 | 199 | 151 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 168 | 199 | 186 | 193 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 194 | 200 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 204 | 206 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 199 | 218 | 209 | 212 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
| Q13825 | 199 | 218 | 204 | 204 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 204 | 204 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 211 | 211 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 199 | 218 | 211 | 211 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9JLZ3 |
| Q13825 | 298 | 313 | 68 | 339 | Chain | ID=PRO_0000007415;Note=Methylglutaconyl-CoA hydratase%2C mitochondrial |
| Q13825 | 298 | 313 | 301 | 313 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HZD |
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3'-UTR located exon skipping events that lost miRNA binding sites in AUH |
| 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 AUH |
| - 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 AUH |
| 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 AUH |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_81778 | rs10991820 | chr9:91190658 | 2.093945e-06 | 3.174115e-04 |
| HCC | exon_skip_81778 | rs12238485 | chr9:91198670 | 7.859977e-06 | 1.020833e-03 |
| HCC | exon_skip_81778 | rs10991816 | chr9:91188231 | 1.365966e-05 | 1.652845e-03 |
| HCC | exon_skip_81778 | rs773506 | chr9:91213189 | 1.991221e-05 | 2.302281e-03 |
| HCC | exon_skip_81778 | rs773507 | chr9:91212271 | 7.537524e-04 | 4.683668e-02 |
| HCC | exon_skip_81778 | rs2482338 | chr9:91275591 | 8.130954e-04 | 4.965357e-02 |
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Correlation with RNA binding proteins (RBPs) for AUH |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_81778 | -4.758411e-01 | 2.314235e-10 |
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RelatedDrugs for AUH |
| 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 AUH |
| 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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