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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 IDH2 |
 Gene summary |
| Gene information | Gene symbol | IDH2 | Gene ID | 3418 |
| Gene name | isocitrate dehydrogenase (NADP(+)) 2 | |
| Synonyms | D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | isocitrate dehydrogenase [NADP], mitochondrialNADP(+)-specific ICDHisocitrate dehydrogenase (NADP(+)) 2, mitochondrialisocitrate dehydrogenase 2 (NADP+), mitochondrialoxalosuccinate decarboxylase | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| 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 IDH2 |
| 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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ENSG00000182054
| 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 | DOWN | ENST00000561101.3 | IDH2-DT-201:lncRNA:IDH2 | 5.546246e+00 | -8.590803e-01 | 2.011393e-05 | 1.900786e-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 IDH2 |
| 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_134988 | chr15 | 90084014:90084353:90084816:90084908:90085001:90085098 | 90084816:90084908 |
| exon_skip_138539 | chr15 | 90088606:90088747:90090479:90090644:90091553:90091644 | 90090479:90090644 |
| exon_skip_141974 | chr15 | 90085275:90085387:90087112:90087263:90087439:90087575 | 90087112:90087263 |
| exon_skip_222710 | chr15 | 90087439:90087575:90088359:90088502:90088587:90088747 | 90088359:90088502 |
| exon_skip_23703 | chr15 | 90085275:90085387:90087112:90087263:90087439:90087552 | 90087112:90087263 |
| exon_skip_269610 | chr15 | 90084177:90084353:90084816:90084908:90085001:90085098 | 90084816:90084908 |
| exon_skip_35896 | chr15 | 90088587:90088747:90090479:90090644:90091553:90091644 | 90090479:90090644 |
| exon_skip_53199 | chr15 | 90087112:90087263:90087439:90087575:90088359:90088502 | 90087439:90087575 |
| 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 IDH2 |
| 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 |
| ENST00000330062 | 90087112 | 90087263 | Frame-shift |
| ENST00000330062 | 90087439 | 90087575 | Frame-shift |
| ENST00000330062 | 90090479 | 90090644 | Frame-shift |
| ENST00000330062 | 90084816 | 90084908 | In-frame |
| ENST00000330062 | 90088359 | 90088502 | 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 |
| ENST00000330062 | 90090479 | 90090644 | 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 |
| ENST00000330062 | 90087112 | 90087263 | Frame-shift |
| ENST00000330062 | 90087439 | 90087575 | Frame-shift |
| ENST00000330062 | 90090479 | 90090644 | Frame-shift |
| ENST00000330062 | 90088359 | 90088502 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IDH2 |
p-ENSG00000182054_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 |
| ENST00000330062 | 2711 | 452 | 90088359 | 90088502 | 649 | 791 | 178 | 225 |
| ENST00000330062 | 2711 | 452 | 90084816 | 90084908 | 1293 | 1384 | 393 | 423 |
| 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 |
| ENST00000330062 | 2711 | 452 | 90088359 | 90088502 | 649 | 791 | 178 | 225 |
| 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 |
| P48735 | 178 | 225 | 182 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 190 | 196 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 205 | 214 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 216 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 40 | 452 | Chain | ID=PRO_0000014420;Note=Isocitrate dehydrogenase [NADP]%2C mitochondrial |
| P48735 | 178 | 225 | 177 | 180 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 225 | 242 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 180 | 180 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48735 | 178 | 225 | 180 | 180 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 193 | 193 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 193 | 193 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 199 | 199 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 179 | 179 | Site | Note=Critical for catalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P48735 | 393 | 423 | 40 | 452 | Chain | ID=PRO_0000014420;Note=Isocitrate dehydrogenase [NADP]%2C mitochondrial |
| P48735 | 393 | 423 | 389 | 407 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 393 | 423 | 413 | 420 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 393 | 423 | 422 | 424 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 393 | 423 | 400 | 400 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 393 | 423 | 413 | 413 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22416140;Dbxref=PMID:22416140 |
| P48735 | 393 | 423 | 413 | 413 | Mutagenesis | Note=44-fold loss in activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22416140;Dbxref=PMID:22416140 |
| P48735 | 393 | 423 | 413 | 413 | Mutagenesis | Note=20-fold decrease in Vmax. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22416140;Dbxref=PMID:22416140 |
| P48735 | 393 | 423 | 413 | 413 | Mutagenesis | Note=No appreciable difference in Km for isocitrate and NADP. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22416140;Dbxref=PMID:22416140 |
| 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 |
| P48735 | 178 | 225 | 182 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 190 | 196 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 205 | 214 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 216 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 40 | 452 | Chain | ID=PRO_0000014420;Note=Isocitrate dehydrogenase [NADP]%2C mitochondrial |
| P48735 | 178 | 225 | 177 | 180 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 225 | 242 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 225 | 180 | 180 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48735 | 178 | 225 | 180 | 180 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 193 | 193 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 193 | 193 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 199 | 199 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 225 | 179 | 179 | Site | Note=Critical for catalysis;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in IDH2 |
| 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 IDH2 |
| - 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 IDH2 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_35896 | -3.979122e-01 | 3.599019e-02 | chr15 | - | 90088587 | 90088747 | 90090479 | 90090644 | 90091553 | 90091644 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IDH2 |
| 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 IDH2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for IDH2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P48735 | approved|investigational | DB13874 | Enasidenib | small molecule | P48735 |
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RelatedDiseases for IDH2 |
| 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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