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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 IDH2 |
 Gene summary |
| Gene information | Gene symbol | IDH2 | Gene ID | 3418 |
| Gene name | isocitrate dehydrogenase (NADP(+)) 2, mitochondrial | |
| 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 2 (NADP+), mitochondrialoxalosuccinate decarboxylase | |
| Modification date | 20180522 | |
| UniProtAcc | P48735 | |
| Context | PubMed: IDH2 [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 IDH2 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 IDH2 |
| 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 IDH2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130889 | 15 | 90627521:90627585:90628047:90628140:90628232:90628330 | 90628047:90628140 | ENSG00000182054.5 | ENST00000560061.1,ENST00000539790.1,ENST00000540499.2,ENST00000330062.3 |
| exon_skip_130894 | 15 | 90628506:90628619:90630343:90630495:90630670:90630774 | 90630343:90630495 | ENSG00000182054.5 | ENST00000560061.1,ENST00000539790.1,ENST00000540499.2,ENST00000330062.3,ENST00000559482.1 |
| exon_skip_130897 | 15 | 90630343:90630495:90630670:90630807:90631590:90631734 | 90630670:90630807 | ENSG00000182054.5 | ENST00000560061.1,ENST00000539790.1,ENST00000540499.2,ENST00000330062.3,ENST00000559482.1 |
| exon_skip_130899 | 15 | 90630670:90630807:90631590:90631734:90631818:90631979 | 90631590:90631734 | ENSG00000182054.5 | ENST00000560061.1,ENST00000539790.1,ENST00000540499.2,ENST00000330062.3 |
| exon_skip_130908 | 15 | 90631818:90631979:90633710:90633876:90634784:90634876 | 90633710:90633876 | ENSG00000182054.5 | ENST00000540499.2,ENST00000330062.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for IDH2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130889 | 15 | 90627521:90627585:90628047:90628140:90628232:90628330 | 90628047:90628140 | ENSG00000182054.5 | ENST00000330062.3,ENST00000560061.1,ENST00000539790.1,ENST00000540499.2 |
| exon_skip_130894 | 15 | 90628506:90628619:90630343:90630495:90630670:90630774 | 90630343:90630495 | ENSG00000182054.5 | ENST00000330062.3,ENST00000560061.1,ENST00000539790.1,ENST00000559482.1,ENST00000540499.2 |
| exon_skip_130897 | 15 | 90630343:90630495:90630670:90630807:90631590:90631734 | 90630670:90630807 | ENSG00000182054.5 | ENST00000330062.3,ENST00000560061.1,ENST00000539790.1,ENST00000559482.1,ENST00000540499.2 |
| exon_skip_130899 | 15 | 90630670:90630807:90631590:90631734:90631818:90631979 | 90631590:90631734 | ENSG00000182054.5 | ENST00000330062.3,ENST00000560061.1,ENST00000539790.1,ENST00000540499.2 |
| exon_skip_130908 | 15 | 90631818:90631979:90633710:90633876:90634784:90634876 | 90633710:90633876 | ENSG00000182054.5 | ENST00000330062.3,ENST00000540499.2 |
| 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 IDH2 |
| 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 |
| ENST00000330062 | 90630343 | 90630495 | Frame-shift |
| ENST00000330062 | 90630670 | 90630807 | Frame-shift |
| ENST00000330062 | 90633710 | 90633876 | Frame-shift |
| ENST00000330062 | 90628047 | 90628140 | In-frame |
| ENST00000330062 | 90631590 | 90631734 | 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 |
| ENST00000330062 | 90630343 | 90630495 | Frame-shift |
| ENST00000330062 | 90630670 | 90630807 | Frame-shift |
| ENST00000330062 | 90633710 | 90633876 | Frame-shift |
| ENST00000330062 | 90628047 | 90628140 | In-frame |
| ENST00000330062 | 90631590 | 90631734 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IDH2 |
| 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 |
| ENST00000330062 | 2711 | 452 | 90631590 | 90631734 | 649 | 792 | 178 | 226 |
| ENST00000330062 | 2711 | 452 | 90628047 | 90628140 | 1293 | 1385 | 393 | 423 |
| 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 |
| ENST00000330062 | 2711 | 452 | 90631590 | 90631734 | 649 | 792 | 178 | 226 |
| ENST00000330062 | 2711 | 452 | 90628047 | 90628140 | 1293 | 1385 | 393 | 423 |
| 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 |
| P48735 | 178 | 226 | 182 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 190 | 196 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 205 | 214 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 216 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 40 | 452 | Chain | ID=PRO_0000014420;Note=Isocitrate dehydrogenase [NADP]%2C mitochondrial |
| P48735 | 178 | 226 | 177 | 180 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 225 | 242 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 180 | 180 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48735 | 178 | 226 | 180 | 180 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 193 | 193 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 193 | 193 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 199 | 199 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 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 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 |
| P48735 | 178 | 226 | 182 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 190 | 196 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 205 | 214 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 216 | 220 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 40 | 452 | Chain | ID=PRO_0000014420;Note=Isocitrate dehydrogenase [NADP]%2C mitochondrial |
| P48735 | 178 | 226 | 177 | 180 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 225 | 242 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5I95 |
| P48735 | 178 | 226 | 180 | 180 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P48735 | 178 | 226 | 180 | 180 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 193 | 193 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 193 | 193 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 199 | 199 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P54071 |
| P48735 | 178 | 226 | 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 |
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SNVs in the skipped exons for IDH2 |
| - 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-A39Y-01 | exon_skip_130897 | 90630671 | 90630807 | 90630757 | 90630757 | Frame_Shift_Del | T | - | p.K243fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_130899 | 90631591 | 90631734 | 90631689 | 90631689 | Frame_Shift_Del | T | - | p.M194fs |
| - 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 |
| SNU1040_LARGE_INTESTINE | 90631591 | 90631734 | 90631671 | 90631672 | Frame_Shift_Ins | - | T | p.D200fs |
| SNU1040_LARGE_INTESTINE | 90628048 | 90628140 | 90628091 | 90628091 | Missense_Mutation | C | A | p.A410S |
| JHUEM1_ENDOMETRIUM | 90628048 | 90628140 | 90628112 | 90628112 | Missense_Mutation | C | T | p.V403M |
| SNU5_STOMACH | 90628048 | 90628140 | 90628112 | 90628112 | Missense_Mutation | C | A | p.V403L |
| MZ7MEL_SKIN | 90630344 | 90630495 | 90630431 | 90630431 | Missense_Mutation | C | T | p.V294M |
| CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 90630671 | 90630807 | 90630768 | 90630768 | Missense_Mutation | T | C | p.I240V |
| RKO_LARGE_INTESTINE | 90631591 | 90631734 | 90631700 | 90631700 | Missense_Mutation | C | T | p.G190D |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 90633711 | 90633876 | 90633800 | 90633800 | Missense_Mutation | T | C | p.Q95R |
| JAR_PLACENTA | 90630344 | 90630495 | 90630365 | 90630365 | Nonsense_Mutation | G | A | p.Q316* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IDH2 |
| 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 IDH2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IDH2 |
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RelatedDrugs for IDH2 |
| 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 |
| P48735 | DB13874 | Enasidenib | Isocitrate dehydrogenase [NADP], mitochondrial | small molecule | approved|investigational |
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RelatedDiseases for IDH2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| IDH2 | C0014084 | Enchondromatosis | 2 | CTD_human;HPO;ORPHANET |
| IDH2 | C0079774 | Peripheral T-Cell Lymphoma | 2 | CTD_human |
| IDH2 | C0936248 | Chondroma | 2 | CTD_human |
| IDH2 | C2750850 | GLIOMA SUSCEPTIBILITY 1 | 2 | UNIPROT |
| IDH2 | C0018916 | Hemangioma | 1 | CTD_human |
| IDH2 | C0020981 | Angioimmunoblastic Lymphadenopathy | 1 | CTD_human |
| IDH2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| IDH2 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| IDH2 | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
| IDH2 | C0028945 | oligodendroglioma | 1 | CTD_human;ORPHANET |
| IDH2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| IDH2 | C0029456 | Osteoporosis | 1 | CTD_human |
| IDH2 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| IDH2 | C3150909 | D-2-HYDROXYGLUTARIC ACIDURIA 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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