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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 AKR1B1 |
 Gene summary |
| Gene information | Gene symbol | AKR1B1 | Gene ID | 231 |
| Gene name | aldo-keto reductase family 1 member B | |
| Synonyms | ADR|ALDR1|ALR2|AR | |
| Cytomap | 7q33 | |
| Type of gene | protein-coding | |
| Description | aldo-keto reductase family 1 member B1Lii5-2 CTCL tumor antigenaldehyde reductase 1aldose reductaselow Km aldose reductase | |
| 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 |
| AKR1B1 | GO:0055114 | oxidation-reduction process | 8435445 |
| AKR1B1 | GO:0071475 | cellular hyperosmotic salinity response | 8435445 |
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Gene structures and expression levels for AKR1B1 |
| 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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ENSG00000085662
| 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 AKR1B1 |
| 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_138775 | chr7 | 134449720:134449797:134450786:134450902:134451586:134451753 | 134450786:134450902 |
| exon_skip_158320 | chr7 | 134449720:134449797:134450786:134450957:134451586:134451753 | 134450786:134450957 |
| exon_skip_22103 | chr7 | 134448387:134448493:134448997:134449119:134449720:134449797 | 134448997:134449119 |
| exon_skip_260387 | chr7 | 134445238:134445320:134447298:134447381:134447980:134448024 | 134447298:134447381 |
| 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 AKR1B1 |
| 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 |
| ENST00000285930 | 134448997 | 134449119 | 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 |
| 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 |
| ENST00000285930 | 134447298 | 134447381 | In-frame |
| ENST00000285930 | 134448997 | 134449119 | In-frame |
| ENST00000285930 | 134450786 | 134450902 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AKR1B1 |
p-ENSG00000085662_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 |
| ENST00000285930 | 1426 | 316 | 134448997 | 134449119 | 510 | 631 | 143 | 183 |
| 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 |
| 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 |
| ENST00000285930 | 1426 | 316 | 134450786 | 134450902 | 315 | 430 | 78 | 116 |
| ENST00000285930 | 1426 | 316 | 134448997 | 134449119 | 510 | 631 | 143 | 183 |
| ENST00000285930 | 1426 | 316 | 134447298 | 134447381 | 822 | 904 | 247 | 274 |
| 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 |
| P15121 | 143 | 183 | 153 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 157 | 161 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 181 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 2 | 316 | Chain | ID=PRO_0000124623;Note=Aldose reductase |
| P15121 | 143 | 183 | 138 | 150 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 164 | 171 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 172 | 172 | Sequence conflict | Note=N->S;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 |
| 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 |
| P15121 | 78 | 116 | 74 | 79 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 78 | 116 | 105 | 113 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 78 | 116 | 111 | 111 | Binding site | Note=Substrate |
| P15121 | 78 | 116 | 2 | 316 | Chain | ID=PRO_0000124623;Note=Aldose reductase |
| P15121 | 78 | 116 | 81 | 83 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 78 | 116 | 89 | 100 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 78 | 116 | 95 | 95 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P15121 | 78 | 116 | 78 | 78 | Mutagenesis | Note=Reduced enzymatic activity. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8245005;Dbxref=PMID:8245005 |
| P15121 | 78 | 116 | 111 | 111 | Mutagenesis | Note=Reduced enzymatic activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8245005;Dbxref=PMID:8245005 |
| P15121 | 78 | 116 | 90 | 90 | Natural variant | ID=VAR_048213;Note=K->E;Dbxref=dbSNP:rs2229542 |
| P15121 | 78 | 116 | 114 | 114 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P15121 | 78 | 116 | 78 | 78 | Site | Note=Lowers pKa of active site Tyr |
| P15121 | 78 | 116 | 86 | 88 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 153 | 155 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 157 | 161 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 181 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 2 | 316 | Chain | ID=PRO_0000124623;Note=Aldose reductase |
| P15121 | 143 | 183 | 138 | 150 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 164 | 171 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 143 | 183 | 172 | 172 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P15121 | 247 | 274 | 259 | 261 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XGD |
| P15121 | 247 | 274 | 2 | 316 | Chain | ID=PRO_0000124623;Note=Aldose reductase |
| P15121 | 247 | 274 | 245 | 255 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 247 | 274 | 267 | 274 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1US0 |
| P15121 | 247 | 274 | 263 | 263 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P15121 | 247 | 274 | 211 | 273 | Nucleotide binding | Note=NADP;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15146478,ECO:0000269|PubMed:15272156,ECO:0000269|PubMed:16337231,ECO:0000269|PubMed:17368668,ECO:0000269|PubMed:17418233,ECO:000026 |
| P15121 | 247 | 274 | 270 | 272 | Sequence conflict | Note=IAE->EAA;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AKR1B1 |
| 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 AKR1B1 |
| - 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 AKR1B1 |
| 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 AKR1B1 |
| 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 AKR1B1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AKR1B1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P15121 | approved|investigational|nutraceutical | DB00143 | Glutathione | small molecule | P15121 |
| P15121 | approved|investigational | DB00605 | Sulindac | small molecule | P15121 |
| P15121 | approved|nutraceutical|vet_approved | DB04272 | Citric Acid | small molecule | P15121 |
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RelatedDiseases for AKR1B1 |
| 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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