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Fusion gene ID: 39214 |
FusionGeneSummary for TPK1_CYCS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TPK1_CYCS | Fusion gene ID: 39214 | Hgene | Tgene | Gene symbol | TPK1 | CYCS | Gene ID | 27010 | 54205 |
| Gene name | thiamin pyrophosphokinase 1 | cytochrome c, somatic | |
| Synonyms | HTPK1|PP20|THMD5 | CYC|HCS|THC4 | |
| Cytomap | 7q35 | 7p15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | thiamin pyrophosphokinase 1placental protein 20thiamine diphosphokinasethiamine kinase | cytochrome c | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H3S4 | P99999 | |
| Ensembl transtripts involved in fusion gene | ENST00000360057, ENST00000538212, ENST00000549981, ENST00000378099, ENST00000547966, | ENST00000305786, ENST00000409409, ENST00000409764, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TPK1 [Title/Abstract] AND CYCS [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 |
| 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 | BM459600 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| * 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-3UTR | ENST00000360057 | ENST00000305786 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000360057 | ENST00000409409 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000360057 | ENST00000409764 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-3UTR | ENST00000538212 | ENST00000305786 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000538212 | ENST00000409409 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000538212 | ENST00000409764 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-3UTR | ENST00000549981 | ENST00000305786 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000549981 | ENST00000409409 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000549981 | ENST00000409764 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-3UTR | ENST00000378099 | ENST00000305786 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000378099 | ENST00000409409 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000378099 | ENST00000409764 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-3UTR | ENST00000547966 | ENST00000305786 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000547966 | ENST00000409409 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
| intron-intron | ENST00000547966 | ENST00000409764 | TPK1 | chr7 | 144344086 | + | CYCS | chr7 | 25162542 | - |
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FusionProtFeatures for TPK1_CYCS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TPK1 | CYCS |
| Catalyzes the phosphorylation of thiamine to thiaminepyrophosphate. Can also catalyze the phosphorylation ofpyrithiamine to pyrithiamine pyrophosphate.{ECO:0000269|PubMed:11342111}. | Electron carrier protein. The oxidized form of thecytochrome c heme group can accept an electron from the heme groupof the cytochrome c1 subunit of cytochrome reductase. Cytochrome cthen transfers this electron to the cytochrome oxidase complex,the final protein carrier in the mitochondrial electron-transportchain. Plays a role in apoptosis. Suppression of the anti-apoptotic members or activation of the pro-apoptotic members ofthe Bcl-2 family leads to altered mitochondrial membranepermeability resulting in release of cytochrome c into thecytosol. Binding of cytochrome c to Apaf-1 triggers the activationof caspase-9, which then accelerates apoptosis by activating othercaspases. |
| 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 TPK1_CYCS |
| 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 TPK1_CYCS |
| 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 TPK1_CYCS |
| 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 |
| Hgene | TPK1 | Q9H3S4 | DB00152 | Thiamine | Thiamin pyrophosphokinase 1 | small molecule | approved|investigational|nutraceutical|vet_approved |
| Tgene | CYCS | P99999 | DB01017 | Minocycline | Cytochrome c | small molecule | approved|investigational |
| Tgene | CYCS | P99999 | DB11638 | Artenimol | Cytochrome c | small molecule | approved|investigational |
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RelatedDiseases for TPK1_CYCS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TPK1 | C3280866 | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) | 1 | ORPHANET;UNIPROT |
| Tgene | CYCS | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | CYCS | C0007787 | Transient Ischemic Attack | 1 | CTD_human |
| Tgene | CYCS | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | CYCS | C0022116 | Ischemia | 1 | CTD_human |
| Tgene | CYCS | C0028754 | Obesity | 1 | CTD_human |
| Tgene | CYCS | C0040034 | Thrombocytopenia | 1 | CTD_human;HPO |
| Tgene | CYCS | C0263454 | Chloracne | 1 | CTD_human |
| Tgene | CYCS | C0268583 | Methylmalonic acidemia | 1 | CTD_human |
| Tgene | CYCS | C2677608 | Thrombocytopenia 4 | 1 | CTD_human;UNIPROT |
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