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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for DBT |
Gene summary |
Gene information | Gene symbol | DBT | Gene ID | 1629 |
Gene name | dihydrolipoamide branched chain transacylase E2 | |
Synonyms | BCATE2|BCKAD-E2|BCKADE2|BCOADC-E2|E2|E2B | |
Cytomap | 1p21.2 | |
Type of gene | protein-coding | |
Description | lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial52 kDa mitochondrial autoantigen of primary biliary cirrhosisBCKAD E2 subunitE2 component of branched chain alpha-keto acid dehydrogenase complex | |
Modification date | 20200313 | |
UniProtAcc | P11182, Q5VVL7, | |
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 DBT |
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. |
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 DBT |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_191916 | chr1 | 100206230:100206301:100206445:100206636:100210694:100210771 | 100206445:100206636 |
exon_skip_194194 | chr1 | 100218626:100218747:100230733:100230914:100235436:100235511 | 100230733:100230914 |
exon_skip_265971 | chr1 | 100186919:100196422:100206230:100206301:100206445:100206636 | 100206230:100206301 |
exon_skip_71991 | chr1 | 100235436:100235511:100240761:100240884:100249770:100249820 | 100240761:100240884 |
exon_skip_75476 | chr1 | 100214817:100214983:100215983:100216199:100218626:100218747 | 100215983:100216199 |
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 DBT |
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 |
ENST00000370132 | 100215983 | 100216199 | Frame-shift |
ENST00000370132 | 100230733 | 100230914 | Frame-shift |
ENST00000370132 | 100206230 | 100206301 | In-frame |
ENST00000370132 | 100206445 | 100206636 | 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 |
ENST00000370132 | 100215983 | 100216199 | Frame-shift |
ENST00000370132 | 100230733 | 100230914 | Frame-shift |
ENST00000370132 | 100206230 | 100206301 | 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 |
ENST00000370132 | 100215983 | 100216199 | Frame-shift |
ENST00000370132 | 100230733 | 100230914 | Frame-shift |
ENST00000370132 | 100206230 | 100206301 | In-frame |
ENST00000370132 | 100206445 | 100206636 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DBT |
p-ENSG00000137992_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 |
ENST00000370132 | 10816 | 482 | 100206445 | 100206636 | 1032 | 1222 | 339 | 402 |
ENST00000370132 | 10816 | 482 | 100206230 | 100206301 | 1224 | 1294 | 403 | 426 |
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 |
ENST00000370132 | 10816 | 482 | 100206230 | 100206301 | 1224 | 1294 | 403 | 426 |
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 |
ENST00000370132 | 10816 | 482 | 100206445 | 100206636 | 1032 | 1222 | 339 | 402 |
ENST00000370132 | 10816 | 482 | 100206230 | 100206301 | 1224 | 1294 | 403 | 426 |
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 |
P11182 | 339 | 402 | 62 | 482 | Chain | ID=PRO_0000020489;Note=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex%2C mitochondrial |
P11182 | 339 | 402 | 384 | 384 | Natural variant | ID=VAR_015100;Note=In MSUD2. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16710414,ECO:0000269|PubMed:9621512;Dbxref=dbSNP:rs12021720,PMID:16710414,PMID:9621512 |
P11182 | 339 | 402 | 354 | 354 | Sequence conflict | Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P11182 | 403 | 426 | 62 | 482 | Chain | ID=PRO_0000020489;Note=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex%2C mitochondrial |
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 |
P11182 | 403 | 426 | 62 | 482 | Chain | ID=PRO_0000020489;Note=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex%2C mitochondrial |
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 |
P11182 | 339 | 402 | 62 | 482 | Chain | ID=PRO_0000020489;Note=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex%2C mitochondrial |
P11182 | 339 | 402 | 384 | 384 | Natural variant | ID=VAR_015100;Note=In MSUD2. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16710414,ECO:0000269|PubMed:9621512;Dbxref=dbSNP:rs12021720,PMID:16710414,PMID:9621512 |
P11182 | 339 | 402 | 354 | 354 | Sequence conflict | Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P11182 | 403 | 426 | 62 | 482 | Chain | ID=PRO_0000020489;Note=Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex%2C mitochondrial |
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3'-UTR located exon skipping events that lost miRNA binding sites in DBT |
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 DBT |
- 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 DBT |
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 DBT |
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 DBT |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_75476 | -4.257654e-01 | 2.139279e-07 |
CB | TRA2A | exon_skip_75476 | -4.619640e-01 | 1.328487e-08 |
IFG | MSI1 | exon_skip_75476 | -4.034779e-01 | 4.095514e-02 |
IFG | PABPN1 | exon_skip_75476 | -4.355815e-01 | 2.613435e-02 |
IFG | RBM6 | exon_skip_75476 | -4.436155e-01 | 2.320533e-02 |
IFG | SRSF11 | exon_skip_75476 | -4.907715e-01 | 1.090710e-02 |
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RelatedDrugs for DBT |
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 DBT |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |