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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 DHTKD1 |
 Gene summary |
| Gene information | Gene symbol | DHTKD1 | Gene ID | 55526 |
| Gene name | dehydrogenase E1 and transketolase domain containing 1 | |
| Synonyms | AMOXAD|CMT2Q | |
| Cytomap | 10p14 | |
| Type of gene | protein-coding | |
| Description | probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrialdehydrogenase E1 and transketolase domain-containing protein 1 | |
| Modification date | 20200328 | |
| UniProtAcc | ||
| Context | - 30847859(Human 2-Oxoglutarate Dehydrogenase and 2-Oxoadipate Dehydrogenase Both Generate Superoxide/H 2 O 2 in a Side Reaction and Each Could Contribute to Oxidative Stress in Mitochondria) |
| 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 DHTKD1 |
| 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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ENSG00000181192
| 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 DHTKD1 |
| 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_111017 | chr10 | 12097684:12097996:12100178:12100262:12101042:12101181 | 12100178:12100262 |
| exon_skip_124994 | chr10 | 12084540:12084751:12087535:12087729:12088986:12089255 | 12087535:12087729 |
| exon_skip_15280 | chr10 | 12081524:12081627:12084540:12084751:12087535:12087729 | 12084540:12084751 |
| exon_skip_169839 | chr10 | 12101042:12101181:12106246:12106396:12107909:12108015 | 12106246:12106396 |
| exon_skip_173312 | chr10 | 12089175:12089255:12091513:12091684:12094073:12094271 | 12091513:12091684 |
| exon_skip_183116 | chr10 | 12091513:12091684:12094073:12094271:12097684:12097898 | 12094073:12094271 |
| exon_skip_193083 | chr10 | 12094260:12094271:12097684:12097996:12100178:12100262 | 12097684:12097996 |
| exon_skip_238530 | chr10 | 12091513:12091684:12094073:12094271:12097684:12097958 | 12094073:12094271 |
| exon_skip_241646 | chr10 | 12087535:12087729:12094073:12094271:12097684:12097958 | 12094073:12094271 |
| exon_skip_263166 | chr10 | 12084540:12084751:12088986:12089255:12091513:12091643 | 12088986:12089255 |
| exon_skip_274923 | chr10 | 12101042:12101181:12107909:12108015:12112900:12113029 | 12107909:12108015 |
| exon_skip_275066 | chr10 | 12107909:12108015:12112900:12113064:12117673:12117755 | 12112900:12113064 |
| exon_skip_51720 | chr10 | 12087535:12087729:12088986:12089255:12091513:12091643 | 12088986:12089255 |
| exon_skip_80279 | chr10 | 12069024:12069187:12081472:12081627:12084540:12084751 | 12081472:12081627 |
| exon_skip_82105 | chr10 | 12118779:12118918:12120182:12120267:12120787:12123221 | 12120182:12120267 |
| exon_skip_96313 | chr10 | 12106246:12106396:12107909:12108015:12112900:12113029 | 12107909:12108015 |
| 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 DHTKD1 |
| 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 |
| ENST00000263035 | 12084540 | 12084751 | Frame-shift |
| ENST00000263035 | 12091513 | 12091684 | Frame-shift |
| ENST00000263035 | 12094073 | 12094271 | Frame-shift |
| ENST00000263035 | 12097684 | 12097996 | Frame-shift |
| ENST00000263035 | 12106246 | 12106396 | Frame-shift |
| ENST00000263035 | 12107909 | 12108015 | Frame-shift |
| ENST00000263035 | 12087535 | 12087729 | In-frame |
| ENST00000263035 | 12088986 | 12089255 | In-frame |
| ENST00000263035 | 12112900 | 12113064 | 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 |
| ENST00000263035 | 12084540 | 12084751 | Frame-shift |
| ENST00000263035 | 12091513 | 12091684 | Frame-shift |
| ENST00000263035 | 12094073 | 12094271 | Frame-shift |
| ENST00000263035 | 12097684 | 12097996 | Frame-shift |
| ENST00000263035 | 12106246 | 12106396 | Frame-shift |
| ENST00000263035 | 12087535 | 12087729 | In-frame |
| ENST00000263035 | 12088986 | 12089255 | In-frame |
| ENST00000263035 | 12112900 | 12113064 | 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 |
| ENST00000263035 | 12084540 | 12084751 | Frame-shift |
| ENST00000263035 | 12091513 | 12091684 | Frame-shift |
| ENST00000263035 | 12094073 | 12094271 | Frame-shift |
| ENST00000263035 | 12097684 | 12097996 | Frame-shift |
| ENST00000263035 | 12100178 | 12100262 | Frame-shift |
| ENST00000263035 | 12106246 | 12106396 | Frame-shift |
| ENST00000263035 | 12107909 | 12108015 | Frame-shift |
| ENST00000263035 | 12120182 | 12120267 | Frame-shift |
| ENST00000263035 | 12087535 | 12087729 | In-frame |
| ENST00000263035 | 12088986 | 12089255 | In-frame |
| ENST00000263035 | 12112900 | 12113064 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DHTKD1 |
p-ENSG00000181192_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 |
| ENST00000263035 | 5176 | 919 | 12087535 | 12087729 | 586 | 779 | 174 | 239 |
| ENST00000263035 | 5176 | 919 | 12088986 | 12089255 | 781 | 1049 | 239 | 329 |
| ENST00000263035 | 5176 | 919 | 12112900 | 12113064 | 2218 | 2381 | 718 | 773 |
| 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 |
| ENST00000263035 | 5176 | 919 | 12087535 | 12087729 | 586 | 779 | 174 | 239 |
| ENST00000263035 | 5176 | 919 | 12088986 | 12089255 | 781 | 1049 | 239 | 329 |
| ENST00000263035 | 5176 | 919 | 12112900 | 12113064 | 2218 | 2381 | 718 | 773 |
| 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 |
| ENST00000263035 | 5176 | 919 | 12087535 | 12087729 | 586 | 779 | 174 | 239 |
| ENST00000263035 | 5176 | 919 | 12088986 | 12089255 | 781 | 1049 | 239 | 329 |
| ENST00000263035 | 5176 | 919 | 12112900 | 12113064 | 2218 | 2381 | 718 | 773 |
| 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 |
| Q96HY7 | 174 | 239 | 183 | 183 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2ATU0 |
| Q96HY7 | 174 | 239 | 188 | 188 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2ATU0 |
| Q96HY7 | 239 | 329 | 272 | 272 | Natural variant | ID=VAR_036716;Note=Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10997877,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3740015,PMID:10997877,PMID:15489334 |
| Q96HY7 | 239 | 329 | 308 | 308 | Natural variant | ID=VAR_036717;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849603,PMID:15489334 |
| Q96HY7 | 718 | 773 | 729 | 729 | Natural variant | ID=VAR_069585;Note=In AMOXAD. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23141293;Dbxref=dbSNP:rs117225135,PMID:23141293 |
| 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 |
| Q96HY7 | 174 | 239 | 183 | 183 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2ATU0 |
| Q96HY7 | 174 | 239 | 188 | 188 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2ATU0 |
| Q96HY7 | 239 | 329 | 272 | 272 | Natural variant | ID=VAR_036716;Note=Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10997877,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3740015,PMID:10997877,PMID:15489334 |
| Q96HY7 | 239 | 329 | 308 | 308 | Natural variant | ID=VAR_036717;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849603,PMID:15489334 |
| Q96HY7 | 718 | 773 | 729 | 729 | Natural variant | ID=VAR_069585;Note=In AMOXAD. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23141293;Dbxref=dbSNP:rs117225135,PMID:23141293 |
| 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 |
| Q96HY7 | 174 | 239 | 183 | 183 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2ATU0 |
| Q96HY7 | 174 | 239 | 188 | 188 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:A2ATU0 |
| Q96HY7 | 239 | 329 | 272 | 272 | Natural variant | ID=VAR_036716;Note=Y->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10997877,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3740015,PMID:10997877,PMID:15489334 |
| Q96HY7 | 239 | 329 | 308 | 308 | Natural variant | ID=VAR_036717;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849603,PMID:15489334 |
| Q96HY7 | 718 | 773 | 729 | 729 | Natural variant | ID=VAR_069585;Note=In AMOXAD. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23141293;Dbxref=dbSNP:rs117225135,PMID:23141293 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DHTKD1 |
| 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 DHTKD1 |
| - 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 DHTKD1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_124994 | 3.863150e-01 | 4.229651e-02 | chr10 | + | 12084540 | 12084751 | 12087535 | 12087729 | 12088986 | 12089255 |
| CDR | MSBB | IFG | exon_skip_124994 | 4.466220e-01 | 1.719402e-02 | chr10 | + | 12084540 | 12084751 | 12087535 | 12087729 | 12088986 | 12089255 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DHTKD1 |
| 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 DHTKD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | A1CF | exon_skip_124994 | -5.112548e-01 | 5.427684e-03 |
| IFG | TARDBP | exon_skip_173312 | 4.408343e-01 | 4.547299e-02 |
| IFG | TIA1 | exon_skip_173312 | 4.527287e-01 | 3.931921e-02 |
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RelatedDrugs for DHTKD1 |
| 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 DHTKD1 |
| 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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