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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 BCKDK |
 Gene summary |
| Gene information | Gene symbol | BCKDK | Gene ID | 10295 |
| Gene name | branched chain keto acid dehydrogenase kinase | |
| Synonyms | BCKDKD|BDK | |
| Cytomap | 16p11.2 | |
| Type of gene | protein-coding | |
| Description | [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrialBCKD-kinaseBCKDHKINbranched chain alpha-ketoacid dehydrogenase kinasebranched chain ketoacid dehydrogenase | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 29777097(GWAS on Family History of Alzheimer's Disease) |
| 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 BCKDK |
| 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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ENSG00000103507
| 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 | ENST00000287507.7 | BCKDK-202:protein_coding:BCKDK | 6.982573e+00 | 1.512802e+00 | 2.338629e-03 | 1.049215e-02 |
| TC | DOWN | ENST00000567682.1 | BCKDK-210:protein_coding:BCKDK | 4.339151e+00 | -1.118385e+00 | 8.449961e-04 | 8.667731e-03 |
| 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 BCKDK |
| 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_162432 | chr16 | 31111091:31111219:31111300:31111389:31111869:31112567 | 31111300:31111389 |
| exon_skip_176967 | chr16 | 31110104:31110124:31110205:31110324:31110401:31110499 | 31110205:31110324 |
| exon_skip_236434 | chr16 | 31111091:31111219:31111300:31111389:31111869:31111944 | 31111300:31111389 |
| exon_skip_240482 | chr16 | 31110401:31110499:31110688:31110761:31111091:31111219 | 31110688:31110761 |
| exon_skip_30209 | chr16 | 31110410:31110499:31110688:31110761:31111091:31111219 | 31110688:31110761 |
| exon_skip_9155 | chr16 | 31111091:31111219:31111300:31111389:31111869:31112027 | 31111300:31111389 |
| 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_240482 | Mayo_CB | 6.491463e-01 | 7.941558e-01 | -1.450095e-01 | 3.068750e-09 |
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Open reading frame (ORF) annotation in the exon skipping event for BCKDK |
| 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 |
| ENST00000219794 | 31110688 | 31110761 | Frame-shift |
| ENST00000394951 | 31110688 | 31110761 | Frame-shift |
| ENST00000219794 | 31110205 | 31110324 | In-frame |
| ENST00000394951 | 31110205 | 31110324 | In-frame |
| ENST00000219794 | 31111300 | 31111389 | In-frame |
| ENST00000394951 | 31111300 | 31111389 | 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 |
| ENST00000219794 | 31110688 | 31110761 | Frame-shift |
| ENST00000394951 | 31110688 | 31110761 | 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 |
| ENST00000219794 | 31110688 | 31110761 | Frame-shift |
| ENST00000394951 | 31110688 | 31110761 | Frame-shift |
| ENST00000219794 | 31111300 | 31111389 | In-frame |
| ENST00000394951 | 31111300 | 31111389 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCKDK |
p-ENSG00000103507_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 |
| ENST00000219794 | 2145 | 412 | 31110205 | 31110324 | 788 | 906 | 141 | 181 |
| ENST00000394951 | 2181 | 412 | 31110205 | 31110324 | 1048 | 1166 | 141 | 181 |
| ENST00000219794 | 2145 | 412 | 31111300 | 31111389 | 1210 | 1298 | 282 | 311 |
| ENST00000394951 | 2181 | 412 | 31111300 | 31111389 | 1470 | 1558 | 282 | 311 |
| 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 |
| ENST00000219794 | 2145 | 412 | 31111300 | 31111389 | 1210 | 1298 | 282 | 311 |
| ENST00000394951 | 2181 | 412 | 31111300 | 31111389 | 1470 | 1558 | 282 | 311 |
| 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 |
| O14874 | 141 | 181 | 31 | 412 | Chain | ID=PRO_0000023452;Note=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase%2C mitochondrial |
| O14874 | 141 | 181 | 31 | 412 | Chain | ID=PRO_0000023452;Note=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase%2C mitochondrial |
| O14874 | 141 | 181 | 159 | 404 | Domain | Note=Histidine kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00107 |
| O14874 | 141 | 181 | 159 | 404 | Domain | Note=Histidine kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00107 |
| O14874 | 141 | 181 | 174 | 174 | Natural variant | ID=VAR_072184;Note=In BCKDKD%3B partial loss of kinase activity. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24449431;Dbxref=PMID:24449431 |
| O14874 | 141 | 181 | 174 | 174 | Natural variant | ID=VAR_072184;Note=In BCKDKD%3B partial loss of kinase activity. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24449431;Dbxref=PMID:24449431 |
| O14874 | 282 | 311 | 282 | 311 | Alternative sequence | ID=VSP_054604;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O14874 | 282 | 311 | 282 | 311 | Alternative sequence | ID=VSP_054604;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O14874 | 282 | 311 | 31 | 412 | Chain | ID=PRO_0000023452;Note=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase%2C mitochondrial |
| O14874 | 282 | 311 | 31 | 412 | Chain | ID=PRO_0000023452;Note=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase%2C mitochondrial |
| O14874 | 282 | 311 | 159 | 404 | Domain | Note=Histidine kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00107 |
| O14874 | 282 | 311 | 159 | 404 | Domain | Note=Histidine kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00107 |
| 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 |
| O14874 | 282 | 311 | 282 | 311 | Alternative sequence | ID=VSP_054604;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O14874 | 282 | 311 | 282 | 311 | Alternative sequence | ID=VSP_054604;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O14874 | 282 | 311 | 31 | 412 | Chain | ID=PRO_0000023452;Note=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase%2C mitochondrial |
| O14874 | 282 | 311 | 31 | 412 | Chain | ID=PRO_0000023452;Note=[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase%2C mitochondrial |
| O14874 | 282 | 311 | 159 | 404 | Domain | Note=Histidine kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00107 |
| O14874 | 282 | 311 | 159 | 404 | Domain | Note=Histidine kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00107 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BCKDK |
| 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 BCKDK |
| - 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 BCKDK |
| 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 BCKDK |
| 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 BCKDK |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PABPN1 | exon_skip_240482 | -5.699026e-01 | 4.497751e-15 |
| CB | RBM6 | exon_skip_240482 | -5.027596e-01 | 1.447083e-11 |
| CB | TRA2A | exon_skip_240482 | -4.944999e-01 | 3.476229e-11 |
| IFG | ESRP1 | exon_skip_240482 | -4.189538e-01 | 3.711262e-02 |
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RelatedDrugs for BCKDK |
| 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 BCKDK |
| 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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