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Fusion gene ID: 26481 |
FusionGeneSummary for PDHX_THRAP3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDHX_THRAP3 | Fusion gene ID: 26481 | Hgene | Tgene | Gene symbol | PDHX | THRAP3 | Gene ID | 8050 | 9967 |
| Gene name | pyruvate dehydrogenase complex component X | thyroid hormone receptor associated protein 3 | |
| Synonyms | DLDBP|E3BP|OPDX|PDHXD|PDX1|proX | BCLAF2|TRAP150 | |
| Cytomap | 11p13 | 1p34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pyruvate dehydrogenase protein X component, mitochondrialdihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complexlipoyl-containing pyruvate dehydrogenase complex component Xpyruvate dehydrogenase complex, E3-binding protein subu | thyroid hormone receptor-associated protein 3BCLAF1 and THRAP3 family member 2TR-associated protein, 150-kDathyroid hormone receptor-associated protein complex 150 kDa componentthyroid hormone receptor-associated protein, 150 kDa subunit | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | O00330 | Q9Y2W1 | |
| Ensembl transtripts involved in fusion gene | ENST00000448838, ENST00000227868, ENST00000430469, ENST00000477173, | ENST00000354618, ENST00000469141, ENST00000466743, | |
| Fusion gene scores | * DoF score | 9 X 9 X 5=405 | 3 X 3 X 2=18 |
| # samples | 12 | 4 | |
| ** MAII score | log2(12/405*10)=-1.75488750216347 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PDHX [Title/Abstract] AND THRAP3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | THRAP3 | GO:0000956 | nuclear-transcribed mRNA catabolic process | 20123736 |
| Tgene | THRAP3 | GO:0006367 | transcription initiation from RNA polymerase II promoter | 12218053 |
| Tgene | THRAP3 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 11867769 |
| Tgene | THRAP3 | GO:0030521 | androgen receptor signaling pathway | 12218053 |
| Tgene | THRAP3 | GO:0045893 | positive regulation of transcription, DNA-templated | 10198638 |
| Tgene | THRAP3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12037571 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AK024187 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + | ||
| ChiTaRS3.1 | AU122517 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000448838 | ENST00000354618 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000448838 | ENST00000469141 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000448838 | ENST00000466743 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000227868 | ENST00000354618 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000227868 | ENST00000469141 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000227868 | ENST00000466743 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000430469 | ENST00000354618 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000430469 | ENST00000469141 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000430469 | ENST00000466743 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000477173 | ENST00000354618 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000477173 | ENST00000469141 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
| intron-intron | ENST00000477173 | ENST00000466743 | PDHX | chr11 | 34988086 | + | THRAP3 | chr1 | 36725472 | + |
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FusionProtFeatures for PDHX_THRAP3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDHX | THRAP3 |
| Required for anchoring dihydrolipoamide dehydrogenase(E3) to the dihydrolipoamide transacetylase (E2) core of thepyruvate dehydrogenase complexes of eukaryotes. This specificbinding is essential for a functional PDH complex. | Involved in pre-mRNA splicing. Remains associated withspliced mRNA after splicing which probably involves interactionswith the exon junction complex (EJC). Can trigger mRNA decay whichseems to be independent of nonsense-mediated decay involvingpremature stop codons (PTC) recognition. May be involved innuclear mRNA decay. Involved in regulation of signal-inducedalternative splicing. During splicing of PTPRC/CD45 is proposed tosequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in restingT-cells. Involved in cyclin-D1/CCND1 mRNA stability probably byacting as component of the SNARP complex which associates withboth the 3'end of the CCND1 gene and its mRNA. Involved inresponse to DNA damage. Is excluced from DNA damage sites in amanner that parallels transcription inhibition; the function mayinvolve the SNARP complex. Initially thought to play a role intranscriptional coactivation through its association with the TRAPcomplex; however, it is not regarded as a stable Mediator complexsubunit. Cooperatively with HELZ2, enhances the transcriptionalactivation mediated by PPARG, maybe through the stabilization ofthe PPARG binding to DNA in presence of ligand. May play a role inthe terminal stage of adipocyte differentiation. Plays a role inthe positive regulation of the circadian clock. Acts as acoactivator of the CLOCK-ARNTL/BMAL1 heterodimer and promotes itstranscriptional activator activity and binding to circadian targetgenes (PubMed:24043798). {ECO:0000269|PubMed:20123736,ECO:0000269|PubMed:20932480, ECO:0000269|PubMed:22424773,ECO:0000269|PubMed:23525231, ECO:0000269|PubMed:24043798}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PDHX_THRAP3 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PDHX_THRAP3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PDHX_THRAP3 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PDHX_THRAP3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDHX | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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