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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 DLST |
 Gene summary |
| Gene information | Gene symbol | DLST | Gene ID | 1743 |
| Gene name | dihydrolipoamide S-succinyltransferase | |
| Synonyms | DLTS|PGL7 | |
| Cytomap | 14q24.3 | |
| Type of gene | protein-coding | |
| Description | dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrialE2KOGDC-E2dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| Context | - 30983028(Association of multiple candidate genes with mild cognitive impairment in an elderly Chinese Uygur population in Xinjiang) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DLST | GO:0106077 | histone succinylation | 29211711 |
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Gene structures and expression levels for DLST |
| 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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ENSG00000119689
| 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 | UP | ENST00000555190.5 | DLST-208:lncRNA:DLST | 1.489300e+01 | 1.012172e+00 | 1.341125e-10 | 8.078873e-09 |
| CB | UP | ENST00000556460.5 | DLST-213:nonsense_mediated_decay:DLST | 1.332214e+01 | 1.223226e+00 | 2.150460e-08 | 5.792832e-07 |
| CB | UP | ENST00000556582.5 | DLST-214:retained_intron:DLST | 9.509996e+00 | 1.672380e+00 | 3.633757e-07 | 6.336596e-06 |
| CB | UP | ENST00000554612.5 | DLST-204:nonsense_mediated_decay:DLST | 1.516297e+01 | 1.831728e+00 | 2.063238e-05 | 1.942282e-04 |
| 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 DLST |
| 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_108384 | chr14 | 74881956:74882016:74889095:74889147:74889275:74889349 | 74889095:74889147 |
| exon_skip_125298 | chr14 | 74885586:74885634:74889095:74889147:74889275:74889349 | 74889095:74889147 |
| exon_skip_147351 | chr14 | 74889277:74889349:74889878:74889952:74891056:74891067 | 74889878:74889952 |
| exon_skip_153786 | chr14 | 74881956:74882016:74882591:74882624:74885586:74885634 | 74882591:74882624 |
| exon_skip_164176 | chr14 | 74881956:74882016:74882591:74882624:74889095:74889147 | 74882591:74882624 |
| exon_skip_186477 | chr14 | 74881925:74882016:74885586:74885634:74889095:74889147 | 74885586:74885634 |
| exon_skip_191652 | chr14 | 74885586:74885634:74889095:74889147:74889275:74889338 | 74889095:74889147 |
| exon_skip_20115 | chr14 | 74889277:74889349:74889878:74889952:74891056:74891164 | 74889878:74889952 |
| exon_skip_217371 | chr14 | 74889277:74889349:74889897:74889952:74891056:74891106 | 74889897:74889952 |
| exon_skip_220723 | chr14 | 74900289:74900372:74901066:74901233:74902196:74902452 | 74901066:74901233 |
| exon_skip_231460 | chr14 | 74889277:74889349:74889897:74889952:74891056:74891164 | 74889897:74889952 |
| exon_skip_245414 | chr14 | 74881956:74882016:74885586:74885634:74889275:74889349 | 74885586:74885634 |
| exon_skip_248157 | chr14 | 74889277:74889349:74891068:74891167:74892834:74892943 | 74891068:74891167 |
| exon_skip_261412 | chr14 | 74889277:74889349:74889878:74889952:74891056:74891106 | 74889878:74889952 |
| exon_skip_281271 | chr14 | 74882591:74882624:74889095:74889147:74889275:74889349 | 74889095:74889147 |
| exon_skip_289489 | chr14 | 74889277:74889349:74889897:74889952:74891056:74891167 | 74889897:74889952 |
| exon_skip_3115 | chr14 | 74893348:74893424:74894312:74894409:74898369:74898455 | 74894312:74894409 |
| exon_skip_35230 | chr14 | 74889277:74889349:74889897:74889952:74891056:74891067 | 74889897:74889952 |
| exon_skip_64029 | chr14 | 74889277:74889349:74889878:74889952:74891056:74891167 | 74889878:74889952 |
| exon_skip_70822 | chr14 | 74889277:74889349:74891056:74891167:74892834:74892943 | 74891056:74891167 |
| exon_skip_71288 | chr14 | 74882591:74882624:74885586:74885634:74889095:74889147 | 74885586:74885634 |
| exon_skip_71404 | chr14 | 74898369:74898499:74899923:74899996:74900289:74900372 | 74899923:74899996 |
| exon_skip_72055 | chr14 | 74889275:74889349:74889878:74889952:74891056:74891167 | 74889878:74889952 |
| exon_skip_78272 | chr14 | 74881956:74882016:74885586:74885634:74889095:74889147 | 74885586:74885634 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_217371 | Mayo_CB | 8.013415e-01 | 9.113158e-01 | -1.099743e-01 | 1.682355e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for DLST |
| 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 |
| ENST00000334220 | 74882591 | 74882624 | Frame-shift |
| ENST00000334220 | 74885586 | 74885634 | Frame-shift |
| ENST00000334220 | 74889095 | 74889147 | Frame-shift |
| ENST00000334220 | 74889897 | 74889952 | Frame-shift |
| ENST00000334220 | 74894312 | 74894409 | Frame-shift |
| ENST00000334220 | 74899923 | 74899996 | Frame-shift |
| ENST00000334220 | 74901066 | 74901233 | 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 |
| ENST00000334220 | 74882591 | 74882624 | Frame-shift |
| ENST00000334220 | 74885586 | 74885634 | Frame-shift |
| ENST00000334220 | 74889897 | 74889952 | Frame-shift |
| 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 |
| ENST00000334220 | 74882591 | 74882624 | Frame-shift |
| ENST00000334220 | 74885586 | 74885634 | Frame-shift |
| ENST00000334220 | 74889095 | 74889147 | Frame-shift |
| ENST00000334220 | 74889897 | 74889952 | Frame-shift |
| ENST00000334220 | 74894312 | 74894409 | Frame-shift |
| ENST00000334220 | 74899923 | 74899996 | Frame-shift |
| ENST00000334220 | 74901066 | 74901233 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DLST |
p-ENSG00000119689_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 |
| ENST00000334220 | 2855 | 453 | 74901066 | 74901233 | 1122 | 1288 | 353 | 409 |
| 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 |
| ENST00000334220 | 2855 | 453 | 74901066 | 74901233 | 1122 | 1288 | 353 | 409 |
| 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 |
| P36957 | 353 | 409 | 68 | 453 | Chain | ID=PRO_0000020472;Note=Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex%2C mitochondrial |
| P36957 | 353 | 409 | 384 | 384 | Natural variant | ID=VAR_004977;Note=P->T |
| 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 |
| P36957 | 353 | 409 | 68 | 453 | Chain | ID=PRO_0000020472;Note=Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex%2C mitochondrial |
| P36957 | 353 | 409 | 384 | 384 | Natural variant | ID=VAR_004977;Note=P->T |
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3'-UTR located exon skipping events that lost miRNA binding sites in DLST |
| 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 DLST |
| - 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 DLST |
| 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 DLST |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_108384 | rs2070599 | chr14:74894474 | 2.526045e-10 | 2.390344e-07 |
| CB | exon_skip_108384 | rs2080087 | chr14:74898359 | 2.526045e-10 | 2.390344e-07 |
| CB | exon_skip_108384 | rs2300596 | chr14:74887152 | 2.526045e-10 | 2.390344e-07 |
| CB | exon_skip_108384 | rs10483863 | chr14:74855624 | 6.032815e-10 | 5.213583e-07 |
| CB | exon_skip_108384 | rs8014204 | chr14:74856091 | 1.388575e-08 | 8.340512e-06 |
| CB | exon_skip_78272 | rs8014204 | chr14:74856091 | 1.679300e-06 | 5.566467e-04 |
| CB | exon_skip_78272 | rs2300596 | chr14:74887152 | 1.916559e-06 | 6.183513e-04 |
| CB | exon_skip_78272 | rs2070599 | chr14:74894474 | 1.916559e-06 | 6.183513e-04 |
| CB | exon_skip_78272 | rs2080087 | chr14:74898359 | 1.916559e-06 | 6.183513e-04 |
| CB | exon_skip_78272 | rs10483863 | chr14:74855624 | 3.321854e-06 | 1.002975e-03 |
| CB | exon_skip_108384 | rs2300599 | chr14:74892738 | 8.525708e-06 | 2.267062e-03 |
| CB | exon_skip_108384 | rs17093914 | chr14:74896938 | 8.525708e-06 | 2.267062e-03 |
| CB | exon_skip_108384 | rs11851433 | chr14:74872747 | 1.031315e-05 | 2.660903e-03 |
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Correlation with RNA binding proteins (RBPs) for DLST |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_153786 | -4.169631e-01 | 4.569286e-08 |
| CB | HNRNPA2B1 | exon_skip_153786 | -5.169596e-01 | 3.032540e-12 |
| CB | CNOT4 | exon_skip_217371 | -5.541725e-01 | 4.236388e-14 |
| CB | TRA2A | exon_skip_217371 | -6.426411e-01 | 8.858825e-20 |
| CB | RBM45 | exon_skip_217371 | 6.394320e-01 | 1.534913e-19 |
| CB | EIF4G2 | exon_skip_217371 | -4.099833e-01 | 8.817326e-08 |
| CB | RBM6 | exon_skip_71404 | -4.807150e-01 | 1.425988e-10 |
| CB | CNOT4 | exon_skip_71404 | -5.400515e-01 | 2.035403e-13 |
| CB | TRNAU1AP | exon_skip_71404 | -4.000464e-01 | 1.746955e-07 |
| CB | PCBP1 | exon_skip_71404 | -4.837818e-01 | 1.047339e-10 |
| CB | FUBP1 | exon_skip_71404 | -4.621817e-01 | 8.638686e-10 |
| CB | KHSRP | exon_skip_71404 | -4.228104e-01 | 2.824480e-08 |
| CB | HNRNPA2B1 | exon_skip_71404 | -5.006421e-01 | 1.815696e-11 |
| CB | RBM45 | exon_skip_71404 | 6.501175e-01 | 1.817455e-20 |
| CB | RBM4B | exon_skip_71404 | -6.027971e-01 | 4.206384e-17 |
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RelatedDrugs for DLST |
| 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 DLST |
| 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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