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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 ALDH2 |
 Gene summary |
| Gene information | Gene symbol | ALDH2 | Gene ID | 217 |
| Gene name | aldehyde dehydrogenase 2 family member | |
| Synonyms | ALDH-E2|ALDHI|ALDM | |
| Cytomap | 12q24.12 | |
| Type of gene | protein-coding | |
| Description | aldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A384NPN7, | |
| 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 ALDH2 |
| 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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ENSG00000111275
| 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 ALDH2 |
| 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_120737 | chr12 | 111781918:111782022:111783158:111783298:111785267:111785346 | 111783158:111783298 |
| exon_skip_145434 | chr12 | 111798218:111798242:111799906:111800063:111803859:111803973 | 111799906:111800063 |
| exon_skip_203818 | chr12 | 111798078:111798242:111799906:111800063:111803859:111803876 | 111799906:111800063 |
| exon_skip_87284 | chr12 | 111798078:111798242:111799906:111800063:111803859:111803973 | 111799906:111800063 |
| 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 ALDH2 |
| 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 |
| ENST00000261733 | 111799906 | 111800063 | Frame-shift |
| ENST00000261733 | 111783158 | 111783298 | 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 |
| ENST00000261733 | 111799906 | 111800063 | Frame-shift |
| ENST00000261733 | 111783158 | 111783298 | 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 |
| ENST00000261733 | 111799906 | 111800063 | Frame-shift |
| ENST00000261733 | 111783158 | 111783298 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALDH2 |
p-ENSG00000111275_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 |
| ENST00000261733 | 9586 | 517 | 111783158 | 111783298 | 282 | 421 | 73 | 120 |
| 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 |
| ENST00000261733 | 9586 | 517 | 111783158 | 111783298 | 282 | 421 | 73 | 120 |
| 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 |
| ENST00000261733 | 9586 | 517 | 111783158 | 111783298 | 282 | 421 | 73 | 120 |
| 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 |
| P05091 | 73 | 120 | 74 | 120 | Alternative sequence | ID=VSP_046715;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P05091 | 73 | 120 | 18 | 517 | Chain | ID=PRO_0000007168;Note=Aldehyde dehydrogenase%2C mitochondrial |
| P05091 | 73 | 120 | 73 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 92 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 98 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 116 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 73 | 73 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P47738 |
| P05091 | 73 | 120 | 78 | 78 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P47738 |
| P05091 | 73 | 120 | 80 | 85 | Sequence conflict | Note=VKAARA->REGRPG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05091 | 73 | 120 | 101 | 101 | Sequence conflict | Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05091 | 73 | 120 | 116 | 116 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P05091 | 73 | 120 | 74 | 120 | Alternative sequence | ID=VSP_046715;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P05091 | 73 | 120 | 18 | 517 | Chain | ID=PRO_0000007168;Note=Aldehyde dehydrogenase%2C mitochondrial |
| P05091 | 73 | 120 | 73 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 92 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 98 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 116 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 73 | 73 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P47738 |
| P05091 | 73 | 120 | 78 | 78 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P47738 |
| P05091 | 73 | 120 | 80 | 85 | Sequence conflict | Note=VKAARA->REGRPG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05091 | 73 | 120 | 101 | 101 | Sequence conflict | Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05091 | 73 | 120 | 116 | 116 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P05091 | 73 | 120 | 74 | 120 | Alternative sequence | ID=VSP_046715;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P05091 | 73 | 120 | 18 | 517 | Chain | ID=PRO_0000007168;Note=Aldehyde dehydrogenase%2C mitochondrial |
| P05091 | 73 | 120 | 73 | 86 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 92 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 98 | 114 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 116 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1O04 |
| P05091 | 73 | 120 | 73 | 73 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P47738 |
| P05091 | 73 | 120 | 78 | 78 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P47738 |
| P05091 | 73 | 120 | 80 | 85 | Sequence conflict | Note=VKAARA->REGRPG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05091 | 73 | 120 | 101 | 101 | Sequence conflict | Note=R->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P05091 | 73 | 120 | 116 | 116 | Sequence conflict | Note=R->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ALDH2 |
| 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 ALDH2 |
| - 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 ALDH2 |
| 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 ALDH2 |
| 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 ALDH2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ALDH2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P05091 | approved | DB00822 | Disulfiram | small molecule | P05091 |
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RelatedDiseases for ALDH2 |
| 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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