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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 OGDH |
 Gene summary |
| Gene information | Gene symbol | OGDH | Gene ID | 4967 |
| Gene name | oxoglutarate dehydrogenase | |
| Synonyms | AKGDH|E1k|OGDC | |
| Cytomap | 7p13 | |
| Type of gene | protein-coding | |
| Description | 2-oxoglutarate dehydrogenase, mitochondrial2-oxoglutarate dehydrogenase complex component E1OGDC-E1oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)oxoglutarate decarboxylaseoxoglutarate dehydrogenase (succinyl-transferring)testicular tis | |
| Modification date | 20180525 | |
| UniProtAcc | Q02218 | |
| Context | PubMed: OGDH [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 |
| OGDH | GO:0006103 | 2-oxoglutarate metabolic process | 24495017|29211711 |
| OGDH | GO:0006104 | succinyl-CoA metabolic process | 24495017|29211711 |
| OGDH | GO:0106077 | histone succinylation | 29211711 |
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Exon skipping events across known transcript of Ensembl for OGDH 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 OGDH |
| 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 OGDH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465755 | 7 | 44646237:44646252:44662404:44662474:44663915:44664164 | 44662404:44662474 | ENSG00000105953.10 | ENST00000419661.1 |
| exon_skip_465757 | 7 | 44646237:44646252:44663915:44664164:44684925:44685117 | 44663915:44664164 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000447398.1,ENST00000449767.1,ENST00000443864.2 |
| exon_skip_465763 | 7 | 44664060:44664164:44684925:44685117:44687255:44687358 | 44684925:44685117 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000419661.1,ENST00000443864.2 |
| exon_skip_465771 | 7 | 44684925:44685117:44687042:44687133:44706334:44706450 | 44687042:44687133 | ENSG00000105953.10 | ENST00000449767.1 |
| exon_skip_465772 | 7 | 44684925:44685117:44687255:44687358:44706334:44706450 | 44687255:44687358 | ENSG00000105953.10 | ENST00000222673.5,ENST00000419661.1,ENST00000443864.2 |
| exon_skip_465778 | 7 | 44687042:44687133:44695916:44695961:44706334:44706450 | 44695916:44695961 | ENSG00000105953.10 | ENST00000543843.1,ENST00000447398.1 |
| exon_skip_465779 | 7 | 44687255:44687358:44695916:44695961:44706334:44706450 | 44695916:44695961 | ENSG00000105953.10 | ENST00000444676.1 |
| exon_skip_465780 | 7 | 44687255:44687358:44706334:44706450:44713385:44713540 | 44706334:44706450 | ENSG00000105953.10 | ENST00000222673.5,ENST00000443864.2 |
| exon_skip_465782 | 7 | 44706393:44706450:44713385:44713540:44714009:44714156 | 44713385:44713540 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000543843.1,ENST00000447398.1,ENST00000459672.1,ENST00000449767.1,ENST00000443864.2,ENST00000497326.1 |
| exon_skip_465786 | 7 | 44713385:44713540:44714009:44714156:44714776:44714844 | 44714009:44714156 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000543843.1,ENST00000447398.1,ENST00000459672.1,ENST00000449767.1,ENST00000443864.2 |
| exon_skip_465788 | 7 | 44715568:44715748:44721318:44721447:44733423:44733603 | 44721318:44721447 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000439616.2,ENST00000543843.1,ENST00000447398.1,ENST00000449767.1 |
| exon_skip_465789 | 7 | 44721318:44721447:44733423:44733603:44734022:44734175 | 44733423:44733603 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000439616.2,ENST00000543843.1,ENST00000447398.1,ENST00000449767.1 |
| exon_skip_465792 | 7 | 44734022:44734175:44735623:44735726:44736027:44736156 | 44735623:44735726 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000439616.2,ENST00000543843.1,ENST00000447398.1,ENST00000449767.1 |
| exon_skip_465794 | 7 | 44736968:44737096:44737202:44737381:44737790:44737862 | 44737202:44737381 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000439616.2,ENST00000543843.1,ENST00000447398.1,ENST00000449767.1 |
| exon_skip_465795 | 7 | 44737202:44737381:44737790:44737862:44739739:44739868 | 44737790:44737862 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000439616.2,ENST00000543843.1,ENST00000447398.1,ENST00000449767.1 |
| exon_skip_465798 | 7 | 44739739:44739868:44741141:44741214:44746823:44746987 | 44741141:44741214 | ENSG00000105953.10 | ENST00000222673.5,ENST00000444676.1,ENST00000439616.2,ENST00000543843.1,ENST00000447398.1,ENST00000449767.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OGDH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465755 | 7 | 44646237:44646252:44662404:44662474:44663915:44664164 | 44662404:44662474 | ENSG00000105953.10 | ENST00000419661.1 |
| exon_skip_465757 | 7 | 44646237:44646252:44663915:44664164:44684925:44685117 | 44663915:44664164 | ENSG00000105953.10 | ENST00000443864.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5 |
| exon_skip_465763 | 7 | 44664060:44664164:44684925:44685117:44687255:44687358 | 44684925:44685117 | ENSG00000105953.10 | ENST00000443864.2,ENST00000419661.1,ENST00000444676.1,ENST00000222673.5 |
| exon_skip_465771 | 7 | 44684925:44685117:44687042:44687133:44706334:44706450 | 44687042:44687133 | ENSG00000105953.10 | ENST00000449767.1 |
| exon_skip_465772 | 7 | 44684925:44685117:44687255:44687358:44706334:44706450 | 44687255:44687358 | ENSG00000105953.10 | ENST00000443864.2,ENST00000419661.1,ENST00000222673.5 |
| exon_skip_465778 | 7 | 44687042:44687133:44695916:44695961:44706334:44706450 | 44695916:44695961 | ENSG00000105953.10 | ENST00000447398.1,ENST00000543843.1 |
| exon_skip_465779 | 7 | 44687255:44687358:44695916:44695961:44706334:44706450 | 44695916:44695961 | ENSG00000105953.10 | ENST00000444676.1 |
| exon_skip_465780 | 7 | 44687255:44687358:44706334:44706450:44713385:44713540 | 44706334:44706450 | ENSG00000105953.10 | ENST00000443864.2,ENST00000222673.5 |
| exon_skip_465782 | 7 | 44706393:44706450:44713385:44713540:44714009:44714156 | 44713385:44713540 | ENSG00000105953.10 | ENST00000443864.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1,ENST00000459672.1,ENST00000497326.1 |
| exon_skip_465786 | 7 | 44713385:44713540:44714009:44714156:44714776:44714844 | 44714009:44714156 | ENSG00000105953.10 | ENST00000443864.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1,ENST00000459672.1 |
| exon_skip_465788 | 7 | 44715568:44715748:44721318:44721447:44733423:44733603 | 44721318:44721447 | ENSG00000105953.10 | ENST00000439616.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1 |
| exon_skip_465789 | 7 | 44721318:44721447:44733423:44733603:44734022:44734175 | 44733423:44733603 | ENSG00000105953.10 | ENST00000439616.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1 |
| exon_skip_465792 | 7 | 44734022:44734175:44735623:44735726:44736027:44736156 | 44735623:44735726 | ENSG00000105953.10 | ENST00000439616.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1 |
| exon_skip_465794 | 7 | 44736968:44737096:44737202:44737381:44737790:44737862 | 44737202:44737381 | ENSG00000105953.10 | ENST00000439616.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1 |
| exon_skip_465795 | 7 | 44737202:44737381:44737790:44737862:44739739:44739868 | 44737790:44737862 | ENSG00000105953.10 | ENST00000439616.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1 |
| exon_skip_465798 | 7 | 44739739:44739868:44741141:44741214:44746823:44746987 | 44741141:44741214 | ENSG00000105953.10 | ENST00000439616.2,ENST00000447398.1,ENST00000449767.1,ENST00000444676.1,ENST00000222673.5,ENST00000543843.1 |
| 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 OGDH |
| 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 |
| ENST00000222673 | 44663915 | 44664164 | 5CDS-5UTR |
| ENST00000222673 | 44687255 | 44687358 | Frame-shift |
| ENST00000222673 | 44706334 | 44706450 | Frame-shift |
| ENST00000222673 | 44713385 | 44713540 | Frame-shift |
| ENST00000222673 | 44735623 | 44735726 | Frame-shift |
| ENST00000222673 | 44737202 | 44737381 | Frame-shift |
| ENST00000222673 | 44741141 | 44741214 | Frame-shift |
| ENST00000222673 | 44684925 | 44685117 | In-frame |
| ENST00000222673 | 44714009 | 44714156 | In-frame |
| ENST00000222673 | 44721318 | 44721447 | In-frame |
| ENST00000222673 | 44733423 | 44733603 | In-frame |
| ENST00000222673 | 44737790 | 44737862 | 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 |
| ENST00000222673 | 44663915 | 44664164 | 5CDS-5UTR |
| ENST00000222673 | 44687255 | 44687358 | Frame-shift |
| ENST00000222673 | 44706334 | 44706450 | Frame-shift |
| ENST00000222673 | 44713385 | 44713540 | Frame-shift |
| ENST00000222673 | 44735623 | 44735726 | Frame-shift |
| ENST00000222673 | 44737202 | 44737381 | Frame-shift |
| ENST00000222673 | 44741141 | 44741214 | Frame-shift |
| ENST00000222673 | 44684925 | 44685117 | In-frame |
| ENST00000222673 | 44714009 | 44714156 | In-frame |
| ENST00000222673 | 44721318 | 44721447 | In-frame |
| ENST00000222673 | 44733423 | 44733603 | In-frame |
| ENST00000222673 | 44737790 | 44737862 | In-frame |
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Infer the effects of exon skipping event on protein functional features for OGDH |
| 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 |
| ENST00000222673 | 4198 | 1023 | 44684925 | 44685117 | 265 | 456 | 74 | 138 |
| ENST00000222673 | 4198 | 1023 | 44714009 | 44714156 | 831 | 977 | 263 | 311 |
| ENST00000222673 | 4198 | 1023 | 44721318 | 44721447 | 1249 | 1377 | 402 | 445 |
| ENST00000222673 | 4198 | 1023 | 44733423 | 44733603 | 1378 | 1557 | 445 | 505 |
| ENST00000222673 | 4198 | 1023 | 44737790 | 44737862 | 2401 | 2472 | 786 | 810 |
| 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 |
| ENST00000222673 | 4198 | 1023 | 44684925 | 44685117 | 265 | 456 | 74 | 138 |
| ENST00000222673 | 4198 | 1023 | 44714009 | 44714156 | 831 | 977 | 263 | 311 |
| ENST00000222673 | 4198 | 1023 | 44721318 | 44721447 | 1249 | 1377 | 402 | 445 |
| ENST00000222673 | 4198 | 1023 | 44733423 | 44733603 | 1378 | 1557 | 445 | 505 |
| ENST00000222673 | 4198 | 1023 | 44737790 | 44737862 | 2401 | 2472 | 786 | 810 |
| 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 |
| Q02218 | 74 | 138 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 74 | 138 | 74 | 74 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60597 |
| Q02218 | 74 | 138 | 100 | 100 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60597 |
| Q02218 | 263 | 311 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 402 | 445 | 404 | 427 | Alternative sequence | ID=VSP_043628;Note=In isoform 3. MSILLHGDAAFAGQGIVYETFHLS->RPRERRARQIVKAPCSSMEFRSPT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 402 | 445 | 428 | 1023 | Alternative sequence | ID=VSP_043629;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 402 | 445 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 445 | 505 | 428 | 1023 | Alternative sequence | ID=VSP_043629;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 445 | 505 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 445 | 505 | 459 | 460 | Mutagenesis | Note=Abolished enzyme activity and ability to promote histone succinylation. PY->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29211711;Dbxref=PMID:29211711 |
| Q02218 | 786 | 810 | 428 | 1023 | Alternative sequence | ID=VSP_043629;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 786 | 810 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| 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 |
| Q02218 | 74 | 138 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 74 | 138 | 74 | 74 | Modified residue | Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60597 |
| Q02218 | 74 | 138 | 100 | 100 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60597 |
| Q02218 | 263 | 311 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 402 | 445 | 404 | 427 | Alternative sequence | ID=VSP_043628;Note=In isoform 3. MSILLHGDAAFAGQGIVYETFHLS->RPRERRARQIVKAPCSSMEFRSPT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 402 | 445 | 428 | 1023 | Alternative sequence | ID=VSP_043629;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 402 | 445 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 445 | 505 | 428 | 1023 | Alternative sequence | ID=VSP_043629;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 445 | 505 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
| Q02218 | 445 | 505 | 459 | 460 | Mutagenesis | Note=Abolished enzyme activity and ability to promote histone succinylation. PY->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29211711;Dbxref=PMID:29211711 |
| Q02218 | 786 | 810 | 428 | 1023 | Alternative sequence | ID=VSP_043629;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q02218 | 786 | 810 | 41 | 1023 | Chain | ID=PRO_0000020432;Note=2-oxoglutarate dehydrogenase%2C mitochondrial |
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SNVs in the skipped exons for OGDH |
| - 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. |
OGDH_GBM_exon_skip_465763_psi_boxplot.png |
OGDH_SKCM_exon_skip_465763_psi_boxplot.png |
| - 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_465757 | 44663916 | 44664164 | 44664016 | 44664016 | Frame_Shift_Del | A | - | p.Q25fs |
| ACC | TCGA-OR-A5K8-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| BLCA | TCGA-G2-A3IB-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| GBM | TCGA-06-0141-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| GBM | TCGA-06-5418-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| GBM | TCGA-06-5859-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| LUAD | TCGA-50-5051-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| LUAD | TCGA-50-5932-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| SKCM | TCGA-GN-A9SD-06 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_465763 | 44684926 | 44685117 | 44684936 | 44684936 | Frame_Shift_Del | T | - | p.I78fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_465780 | 44706335 | 44706450 | 44706400 | 44706400 | Frame_Shift_Del | G | - | p.G195fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_465780 | 44706335 | 44706450 | 44706400 | 44706400 | Frame_Shift_Del | G | - | p.I194fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_465780 | 44706335 | 44706450 | 44706428 | 44706428 | Frame_Shift_Del | G | - | p.R204fs |
| KIRC | TCGA-CZ-4866-01 | exon_skip_465782 | 44713386 | 44713540 | 44713430 | 44713434 | Frame_Shift_Del | TGACC | - | p.226_227del |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_465788 | 44721319 | 44721447 | 44721340 | 44721340 | Frame_Shift_Del | G | - | p.G410fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465788 | 44721319 | 44721447 | 44721340 | 44721340 | Frame_Shift_Del | G | - | p.G410fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_465789 | 44733424 | 44733603 | 44733461 | 44733461 | Frame_Shift_Del | C | - | p.S458fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_465789 | 44733424 | 44733603 | 44733503 | 44733503 | Frame_Shift_Del | T | - | p.I472fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_465789 | 44733424 | 44733603 | 44733525 | 44733525 | Frame_Shift_Del | C | - | p.D479fs |
| KIRC | TCGA-BP-4162-01 | exon_skip_465789 | 44733424 | 44733603 | 44733565 | 44733566 | Frame_Shift_Ins | - | G | p.W493fs |
| BLCA | TCGA-DK-A3IS-01 | exon_skip_465757 | 44663916 | 44664164 | 44664045 | 44664045 | Nonsense_Mutation | C | T | p.Q35* |
| ESCA | TCGA-Z6-AAPN-01 | exon_skip_465757 | 44663916 | 44664164 | 44664045 | 44664045 | Nonsense_Mutation | C | T | p.Q35* |
| ESCA | TCGA-Z6-AAPN-01 | exon_skip_465757 | 44663916 | 44664164 | 44664045 | 44664045 | Nonsense_Mutation | C | T | p.Q35X |
| PAAD | TCGA-IB-7651-01 | exon_skip_465772 | 44687256 | 44687358 | 44687259 | 44687259 | Nonsense_Mutation | C | T | p.R140* |
| PAAD | TCGA-IB-7651-01 | exon_skip_465772 | 44687256 | 44687358 | 44687259 | 44687259 | Nonsense_Mutation | C | T | p.R140X |
| ESCA | TCGA-VR-A8EQ-01 | exon_skip_465778 exon_skip_465779 | 44695917 | 44695961 | 44695934 | 44695934 | Nonsense_Mutation | G | T | p.E115* |
| LIHC | TCGA-BD-A3ER-01 | exon_skip_465798 | 44741142 | 44741214 | 44741215 | 44741216 | Splice_Site | - | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-VR-A8EQ-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_465779 | |
| Skipped exon start: 44695917 | |
| Skipped exon end: 44695961 | |
| Mutation start: 44695934 | |
| Mutation end: 44695934 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E115* | |
exon_skip_465778_ESCA_TCGA-VR-A8EQ-01.png | |
exon_skip_465779_ESCA_TCGA-VR-A8EQ-01.png | |
exon_skip_94426_ESCA_TCGA-VR-A8EQ-01.png | |
 | Sample: TCGA-VR-A8EQ-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_465779 | |
| Skipped exon start: 44695917 | |
| Skipped exon end: 44695961 | |
| Mutation start: 44695934 | |
| Mutation end: 44695934 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E115* | |
| exon_skip_465778_ESCA_TCGA-VR-A8EQ-01.png | |
| exon_skip_465779_ESCA_TCGA-VR-A8EQ-01.png | |
| exon_skip_94426_ESCA_TCGA-VR-A8EQ-01.png | |
 | Sample: TCGA-06-0141-01 |
| Cancer type: GBM | |
| ESID: exon_skip_465763 | |
| Skipped exon start: 44684926 | |
| Skipped exon end: 44685117 | |
| Mutation start: 44684936 | |
| Mutation end: 44684936 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I78fs | |
exon_skip_465763_GBM_TCGA-06-0141-01.png | |
 | Sample: TCGA-06-5859-01 |
| Cancer type: GBM | |
| ESID: exon_skip_465763 | |
| Skipped exon start: 44684926 | |
| Skipped exon end: 44685117 | |
| Mutation start: 44684936 | |
| Mutation end: 44684936 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I78fs | |
exon_skip_465763_GBM_TCGA-06-5859-01.png | |
 | Sample: TCGA-GN-A9SD-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_465763 | |
| Skipped exon start: 44684926 | |
| Skipped exon end: 44685117 | |
| Mutation start: 44684936 | |
| Mutation end: 44684936 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.I78fs | |
exon_skip_465763_SKCM_TCGA-GN-A9SD-06.png | |
| - 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 |
| GP5D_LARGE_INTESTINE | 44687256 | 44687358 | 44687285 | 44687285 | Frame_Shift_Del | C | - | p.D148fs |
| GP2D_LARGE_INTESTINE | 44687256 | 44687358 | 44687285 | 44687285 | Frame_Shift_Del | C | - | p.D148fs |
| IM95_STOMACH | 44741142 | 44741214 | 44741155 | 44741155 | Frame_Shift_Del | C | - | p.T858fs |
| SISO_CERVIX | 44687256 | 44687358 | 44687290 | 44687291 | Frame_Shift_Ins | - | G | p.LG150fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44687256 | 44687358 | 44687290 | 44687291 | Frame_Shift_Ins | - | G | p.LG150fs |
| MFE319_ENDOMETRIUM | 44663916 | 44664164 | 44664027 | 44664027 | Missense_Mutation | G | A | p.A29T |
| AN3CA_ENDOMETRIUM | 44663916 | 44664164 | 44664094 | 44664094 | Missense_Mutation | G | C | p.S51T |
| RH36_SOFT_TISSUE | 44684926 | 44685117 | 44684945 | 44684945 | Missense_Mutation | G | T | p.R81L |
| VMRCLCD_LUNG | 44684926 | 44685117 | 44684969 | 44684969 | Missense_Mutation | C | T | p.P89L |
| SNU475_LIVER | 44684926 | 44685117 | 44685020 | 44685020 | Missense_Mutation | C | T | p.A106V |
| SNU1040_LARGE_INTESTINE | 44684926 | 44685117 | 44685078 | 44685078 | Missense_Mutation | G | T | p.E125D |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44687256 | 44687358 | 44687307 | 44687307 | Missense_Mutation | G | A | p.D156N |
| SNU719_STOMACH | 44687256 | 44687358 | 44687319 | 44687319 | Missense_Mutation | T | C | p.S160P |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44687256 | 44687358 | 44687322 | 44687322 | Missense_Mutation | G | A | p.V161M |
| SNUC5_LARGE_INTESTINE | 44706335 | 44706450 | 44706337 | 44706337 | Missense_Mutation | T | C | p.F174L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 44706335 | 44706450 | 44706412 | 44706412 | Missense_Mutation | T | C | p.S199P |
| NCIH2595_PLEURA | 44713386 | 44713540 | 44713408 | 44713408 | Missense_Mutation | G | A | p.G219E |
| 59M_OVARY | 44713386 | 44713540 | 44713456 | 44713456 | Missense_Mutation | G | A | p.R235Q |
| HEC108_ENDOMETRIUM | 44713386 | 44713540 | 44713498 | 44713498 | Missense_Mutation | A | G | p.E249G |
| NCIH1563_LUNG | 44714010 | 44714156 | 44714022 | 44714022 | Missense_Mutation | C | G | p.F267L |
| HCT15_LARGE_INTESTINE | 44714010 | 44714156 | 44714051 | 44714051 | Missense_Mutation | G | A | p.R277H |
| CHL1_SKIN | 44721319 | 44721447 | 44721380 | 44721380 | Missense_Mutation | C | T | p.T423I |
| HMCB_SKIN | 44721319 | 44721447 | 44721380 | 44721380 | Missense_Mutation | C | T | p.T423I |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44733424 | 44733603 | 44733481 | 44733481 | Missense_Mutation | G | A | p.A465T |
| HCC2450_LUNG | 44733424 | 44733603 | 44733485 | 44733485 | Missense_Mutation | G | C | p.R466P |
| WM88_SKIN | 44733424 | 44733603 | 44733580 | 44733580 | Missense_Mutation | C | T | p.H498Y |
| SKMEL5_SKIN | 44735624 | 44735726 | 44735663 | 44735663 | Missense_Mutation | T | A | p.F570I |
| SKMEL5_SKIN | 44735624 | 44735726 | 44735663 | 44735664 | Missense_Mutation | TT | AG | p.F570S |
| SKMEL5_SKIN | 44735624 | 44735726 | 44735664 | 44735664 | Missense_Mutation | T | G | p.F570C |
| OC316_OVARY | 44737203 | 44737381 | 44737223 | 44737223 | Missense_Mutation | A | G | p.M734V |
| OC314_OVARY | 44737203 | 44737381 | 44737223 | 44737223 | Missense_Mutation | A | G | p.M734V |
| HEC108_ENDOMETRIUM | 44737203 | 44737381 | 44737343 | 44737343 | Missense_Mutation | G | A | p.G774S |
| SNUC2A_LARGE_INTESTINE | 44741142 | 44741214 | 44741172 | 44741172 | Missense_Mutation | C | T | p.R864C |
| SNUC2B_LARGE_INTESTINE | 44741142 | 44741214 | 44741172 | 44741172 | Missense_Mutation | C | T | p.R864C |
| HEC1A_ENDOMETRIUM | 44741142 | 44741214 | 44741173 | 44741173 | Missense_Mutation | G | A | p.R864H |
| HUCCT1_BILIARY_TRACT | 44741142 | 44741214 | 44741183 | 44741183 | Missense_Mutation | G | T | p.E867D |
| NB14_AUTONOMIC_GANGLIA | 44741142 | 44741214 | 44741200 | 44741200 | Missense_Mutation | A | T | p.D873V |
| SNU1077_ENDOMETRIUM | 44733424 | 44733603 | 44733549 | 44733549 | Nonsense_Mutation | C | A | p.C487* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OGDH |
| 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 OGDH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OGDH |
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RelatedDrugs for OGDH |
| 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 |
| Q02218 | DB00313 | Valproic Acid | 2-oxoglutarate dehydrogenase, mitochondrial | small molecule | approved|investigational | |
| Q02218 | DB09092 | Xanthinol | 2-oxoglutarate dehydrogenase, mitochondrial | small molecule | approved|withdrawn |
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RelatedDiseases for OGDH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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