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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for DLAT |
 Gene summary |
| Gene information | Gene symbol | DLAT | Gene ID | 1737 |
| Gene name | dihydrolipoamide S-acetyltransferase | |
| Synonyms | DLTA|PDC-E2|PDCE2 | |
| Cytomap | 11q23.1 | |
| Type of gene | protein-coding | |
| Description | dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial70 kDa mitochondrial autoantigen of primary biliary cirrhosisE2 component of pyruvate dehydrogenase complexM2 antigen complex 70 kDa subunitPBCdih | |
| Modification date | 20180522 | |
| UniProtAcc | P10515 | |
| Context | PubMed: DLAT [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for DLAT from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for DLAT |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DLAT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64893 | 11 | 111899238:111899363:111899515:111899669:111904127:111904254 | 111899515:111899669 | ENSG00000150768.11 | ENST00000533297.1,ENST00000280346.6 |
| exon_skip_64895 | 11 | 111899515:111899669:111904127:111904254:111907996:111908184 | 111904127:111904254 | ENSG00000150768.11 | ENST00000533297.1,ENST00000280346.6 |
| exon_skip_64899 | 11 | 111904212:111904254:111907996:111908184:111909967:111910121 | 111907996:111908184 | ENSG00000150768.11 | ENST00000531306.1,ENST00000533297.1,ENST00000280346.6,ENST00000537636.1 |
| exon_skip_64904 | 11 | 111915861:111915954:111916586:111916694:111921957:111922073 | 111916586:111916694 | ENSG00000150768.11 | ENST00000531306.1,ENST00000533297.1,ENST00000280346.6,ENST00000537636.1,ENST00000393051.1 |
| exon_skip_64905 | 11 | 111921957:111922073:111930626:111930789:111931761:111931898 | 111930626:111930789 | ENSG00000150768.11 | ENST00000531306.1,ENST00000533297.1,ENST00000280346.6,ENST00000537636.1,ENST00000393051.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DLAT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_64893 | 11 | 111899238:111899363:111899515:111899669:111904127:111904254 | 111899515:111899669 | ENSG00000150768.11 | ENST00000280346.6,ENST00000533297.1 |
| exon_skip_64895 | 11 | 111899515:111899669:111904127:111904254:111907996:111908184 | 111904127:111904254 | ENSG00000150768.11 | ENST00000280346.6,ENST00000533297.1 |
| exon_skip_64899 | 11 | 111904212:111904254:111907996:111908184:111909967:111910121 | 111907996:111908184 | ENSG00000150768.11 | ENST00000280346.6,ENST00000533297.1,ENST00000531306.1,ENST00000537636.1 |
| exon_skip_64904 | 11 | 111915861:111915954:111916586:111916694:111921957:111922073 | 111916586:111916694 | ENSG00000150768.11 | ENST00000280346.6,ENST00000533297.1,ENST00000393051.1,ENST00000531306.1,ENST00000537636.1 |
| exon_skip_64905 | 11 | 111921957:111922073:111930626:111930789:111931761:111931898 | 111930626:111930789 | ENSG00000150768.11 | ENST00000280346.6,ENST00000533297.1,ENST00000393051.1,ENST00000531306.1,ENST00000537636.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DLAT |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000280346 | 111899515 | 111899669 | Frame-shift |
| ENST00000280346 | 111904127 | 111904254 | Frame-shift |
| ENST00000280346 | 111907996 | 111908184 | Frame-shift |
| ENST00000280346 | 111930626 | 111930789 | Frame-shift |
| ENST00000280346 | 111916586 | 111916694 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000280346 | 111899515 | 111899669 | Frame-shift |
| ENST00000280346 | 111904127 | 111904254 | Frame-shift |
| ENST00000280346 | 111907996 | 111908184 | Frame-shift |
| ENST00000280346 | 111930626 | 111930789 | Frame-shift |
| ENST00000280346 | 111916586 | 111916694 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DLAT |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000280346 | 4475 | 647 | 111916586 | 111916694 | 1950 | 2057 | 430 | 466 |
| Loci of skipped exons in GTEx 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 |
| ENST00000280346 | 4475 | 647 | 111916586 | 111916694 | 1950 | 2057 | 430 | 466 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| P10515 | 430 | 466 | 446 | 453 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CT0 |
| P10515 | 430 | 466 | 87 | 647 | Chain | ID=PRO_0000020479;Note=Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex%2C mitochondrial |
| P10515 | 430 | 466 | 427 | 440 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CT0 |
| P10515 | 430 | 466 | 455 | 467 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CT0 |
| P10515 | 430 | 466 | 466 | 466 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P10515 | 430 | 466 | 451 | 451 | Natural variant | ID=VAR_047416;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.1;Dbxref=dbSNP:rs10891314 |
| P10515 | 430 | 466 | 417 | 647 | Region | Note=Catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| P10515 | 430 | 466 | 446 | 453 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CT0 |
| P10515 | 430 | 466 | 87 | 647 | Chain | ID=PRO_0000020479;Note=Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex%2C mitochondrial |
| P10515 | 430 | 466 | 427 | 440 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CT0 |
| P10515 | 430 | 466 | 455 | 467 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6CT0 |
| P10515 | 430 | 466 | 466 | 466 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P10515 | 430 | 466 | 451 | 451 | Natural variant | ID=VAR_047416;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.1;Dbxref=dbSNP:rs10891314 |
| P10515 | 430 | 466 | 417 | 647 | Region | Note=Catalytic;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for DLAT |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_64893 | 111899516 | 111899669 | 111899655 | 111899655 | Frame_Shift_Del | C | - | p.P217fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_64895 | 111904128 | 111904254 | 111904183 | 111904183 | Frame_Shift_Del | A | - | p.E239fs |
| KIRP | TCGA-Q2-A5QZ-01 | exon_skip_64895 | 111904128 | 111904254 | 111904183 | 111904183 | Frame_Shift_Del | A | - | p.E239fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_64895 | 111904128 | 111904254 | 111904183 | 111904183 | Frame_Shift_Del | A | - | p.E239fs |
| PCPG | TCGA-TT-A6YJ-01 | exon_skip_64905 | 111930627 | 111930789 | 111930686 | 111930690 | Frame_Shift_Del | TTGTG | - | p.IV525fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_64904 | 111916587 | 111916694 | 111916599 | 111916599 | Nonsense_Mutation | C | T | p.R435* |
| PAAD | TCGA-IB-7651-01 | exon_skip_64904 | 111916587 | 111916694 | 111916599 | 111916599 | Nonsense_Mutation | C | T | p.R435X |
| KIRP | TCGA-MH-A856-01 | exon_skip_64893 | 111899516 | 111899669 | 111899514 | 111899514 | Splice_Site | A | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SNUC4_LARGE_INTESTINE | 111904128 | 111904254 | 111904183 | 111904183 | Frame_Shift_Del | A | - | p.E239fs |
| IM95_STOMACH | 111904128 | 111904254 | 111904183 | 111904183 | Frame_Shift_Del | A | - | p.E239fs |
| LOVO_LARGE_INTESTINE | 111904128 | 111904254 | 111904183 | 111904183 | Frame_Shift_Del | A | - | p.E239fs |
| SNU601_STOMACH | 111904128 | 111904254 | 111904216 | 111904219 | Frame_Shift_Del | ACTT | - | p.DL250fs |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111904128 | 111904254 | 111904182 | 111904183 | Frame_Shift_Ins | - | A | p.E239fs |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111904128 | 111904254 | 111904182 | 111904183 | Frame_Shift_Ins | - | A | p.E239fs |
| MDAMB361_BREAST | 111899516 | 111899669 | 111899520 | 111899520 | Missense_Mutation | G | C | p.E171Q |
| TOV112D_OVARY | 111899516 | 111899669 | 111899575 | 111899575 | Missense_Mutation | C | A | p.P189Q |
| WM278_SKIN | 111904128 | 111904254 | 111904131 | 111904131 | Missense_Mutation | C | T | p.L222F |
| LOVO_LARGE_INTESTINE | 111904128 | 111904254 | 111904138 | 111904138 | Missense_Mutation | C | A | p.P224H |
| KYSE410_OESOPHAGUS | 111904128 | 111904254 | 111904153 | 111904153 | Missense_Mutation | C | T | p.T229I |
| SNU81_LARGE_INTESTINE | 111904128 | 111904254 | 111904157 | 111904157 | Missense_Mutation | G | T | p.M230I |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111907997 | 111908184 | 111908111 | 111908111 | Missense_Mutation | C | T | p.S301L |
| MDAMB330_BREAST | 111930627 | 111930789 | 111930631 | 111930631 | Missense_Mutation | C | T | p.H507Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLAT |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DLAT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DLAT |
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RelatedDrugs for DLAT |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DLAT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DLAT | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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