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Fusion gene ID: 37225 |
FusionGeneSummary for TAOK1_RARA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TAOK1_RARA | Fusion gene ID: 37225 | Hgene | Tgene | Gene symbol | TAOK1 | RARA | Gene ID | 57551 | 5914 |
| Gene name | TAO kinase 1 | retinoic acid receptor alpha | |
| Synonyms | KFC-B|MAP3K16|MARKK|PSK-2|PSK2|TAO1|hKFC-B|hTAOK1 | NR1B1|RAR | |
| Cytomap | 17q11.2 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase TAO1MARK KinaseSTE20-like kinase PSK2kinase from chicken homolog Bmicrotubule affinity regulating kinase kinaseprostate-derived STE20-like kinase 2prostate-derived sterile 20-like kinase 2serine/threonine protein kin | retinoic acid receptor alphaRAR-alphanuclear receptor subfamily 1 group B member 1nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long formretinoic acid nuclear receptor alpha variant 1retinoic acid nuclear receptor alpha variant 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q7L7X3 | P10276 | |
| Ensembl transtripts involved in fusion gene | ENST00000261716, ENST00000536202, | ENST00000254066, ENST00000394089, ENST00000425707, ENST00000394086, ENST00000394081, ENST00000420042, | |
| Fusion gene scores | * DoF score | 27 X 13 X 16=5616 | 18 X 16 X 10=2880 |
| # samples | 28 | 42 | |
| ** MAII score | log2(28/5616*10)=-4.32604420335959 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(42/2880*10)=-2.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TAOK1 [Title/Abstract] AND RARA [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 |
| Hgene | TAOK1 | GO:0006974 | cellular response to DNA damage stimulus | 17396146 |
| Hgene | TAOK1 | GO:0046330 | positive regulation of JNK cascade | 16407310 |
| Hgene | TAOK1 | GO:0097194 | execution phase of apoptosis | 16407310 |
| Tgene | RARA | GO:0007165 | signal transduction | 2825025 |
| Tgene | RARA | GO:0030853 | negative regulation of granulocyte differentiation | 19917671 |
| Tgene | RARA | GO:0032689 | negative regulation of interferon-gamma production | 18416830 |
| Tgene | RARA | GO:0032720 | negative regulation of tumor necrosis factor production | 18416830 |
| Tgene | RARA | GO:0032736 | positive regulation of interleukin-13 production | 18416830 |
| Tgene | RARA | GO:0032753 | positive regulation of interleukin-4 production | 18416830 |
| Tgene | RARA | GO:0032754 | positive regulation of interleukin-5 production | 18416830 |
| Tgene | RARA | GO:0045630 | positive regulation of T-helper 2 cell differentiation | 18416830 |
| Tgene | RARA | GO:0045892 | negative regulation of transcription, DNA-templated | 20080953 |
| Tgene | RARA | GO:0045893 | positive regulation of transcription, DNA-templated | 18845237|19850744|20080953 |
| Tgene | RARA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19850744 |
| Tgene | RARA | GO:0071300 | cellular response to retinoic acid | 19917671 |
| Tgene | RARA | GO:0071391 | cellular response to estrogen stimulus | 20080953 |
| 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 |
| TCGA | RV | GBM | TCGA-06-0141-01A | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| * 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 |
| 5UTR-3CDS | ENST00000261716 | ENST00000254066 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-3CDS | ENST00000261716 | ENST00000394089 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000261716 | ENST00000425707 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000261716 | ENST00000394086 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000261716 | ENST00000394081 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000261716 | ENST00000420042 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-3CDS | ENST00000536202 | ENST00000254066 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-3CDS | ENST00000536202 | ENST00000394089 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000536202 | ENST00000425707 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000536202 | ENST00000394086 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000536202 | ENST00000394081 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
| 5UTR-intron | ENST00000536202 | ENST00000420042 | TAOK1 | chr17 | 27718042 | + | RARA | chr17 | 38504568 | + |
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FusionProtFeatures for TAOK1_RARA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TAOK1 | RARA |
| Serine/threonine-protein kinase involved in variousprocesses such as p38/MAPK14 stress-activated MAPK cascade, DNAdamage response and regulation of cytoskeleton stability.Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator ofthe p38/MAPK14 stress-activated MAPK cascade by mediatingphosphorylation and subsequent activation of the upstream MAP2K3and MAP2K6 kinases. Involved in G-protein coupled receptorsignaling to p38/MAPK14. In response to DNA damage, involved inthe G2/M transition DNA damage checkpoint by activating thep38/MAPK14 stress-activated MAPK cascade, probably by mediatingphosphorylation of MAP2K3 and MAP2K6. Acts as a regulator ofcytoskeleton stability by phosphorylating 'Thr-208' of MARK2,leading to activate MARK2 kinase activity and subsequentphosphorylation and detachment of MAPT/TAU from microtubules. Alsoacts as a regulator of apoptosis: regulates apoptoticmorphological changes, including cell contraction, membraneblebbing and apoptotic bodies formation via activation of theMAPK8/JNK cascade. {ECO:0000269|PubMed:12665513,ECO:0000269|PubMed:13679851, ECO:0000269|PubMed:16407310,ECO:0000269|PubMed:17396146, ECO:0000269|PubMed:17900936}. | Receptor for retinoic acid. Retinoic acid receptors bindas heterodimers to their target response elements in response totheir ligands, all-trans or 9-cis retinoic acid, and regulate geneexpression in various biological processes. The RXR/RARheterodimers bind to the retinoic acid response elements (RARE)composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In theabsence of ligand, the RXR-RAR heterodimers associate with amultiprotein complex containing transcription corepressors thatinduce histone acetylation, chromatin condensation andtranscriptional suppression. On ligand binding, the corepressorsdissociate from the receptors and associate with the coactivatorsleading to transcriptional activation. RARA plays an essentialrole in the regulation of retinoic acid-induced germ celldevelopment during spermatogenesis. Has a role in the survival ofearly spermatocytes at the beginning prophase of meiosis. InSertoli cells, may promote the survival and development of earlymeiotic prophase spermatocytes. In concert with RARG, required forskeletal growth, matrix homeostasis and growth plate function (Bysimilarity). {ECO:0000250|UniProtKB:P11416,ECO:0000269|PubMed:16417524, ECO:0000269|PubMed:19850744,ECO:0000269|PubMed:20215566}. |
| 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 TAOK1_RARA |
| 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 TAOK1_RARA |
| 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 |
| TAOK1 | STK4, CSNK1E, DYNC1I1, GEMIN7, WT1, C8orf33, SRBD1, MAP3K7, STK25, STK26, NTRK1, SNW1, FAM206A | RARA | NRBF2, ZBTB16, MECR, RXRG, RXRB, NCOA6, GADD45G, GADD45A, NRIP1, KAT2B, HDAC3, HDAC4, TDG, PML, TRIP4, KDM5A, RXRA, POU2F1, NCOR2, NR0B2, BAG1, TADA3, NCOR1, NKX2-1, TRIM24, IRX4, SP1, NPAS2, CLOCK, ARNTL, NR2E3, CCND3, NCOA2, SRC, AJUBA, LIMD1, WTIP, SKI, HR, PIN1, SUV39H1, PSMC5, EP300, PARP1, MED6, TOP2B, SAP130, HNRNPU, RFC4, NPM1, MRTO4, SNRNP40, MED1, NCOA1, HMGA1, RUVBL1, RUNX1, SIAH1, RARA, HDAC2, NCOA3, CREBBP, LRIF1, KLF5, SMARCD3, ARID1A, SPI1, PRDX6, NR1H2, ITGB1BP2, MED25, MAPK6, FOXO1, MAPK1, TRIM32, PHF8, TNIP1, HACE1, SQSTM1, UBQLN1, ARID5A, UBE3A, PRAM1, FAS, PRAME, TBL1XR1, SUZ12, EZH2, USP7, TMEM54, MMS19, AKT1, FN1, WWOX, E2F1, MBD3, MTA2, CBX5, CEBPA, HDAC1, NSD1, TEKT4, SNW1, SIRT1, ACTN4, SRF, MDM2, ZNF131, RARG, RARB, TRIM25 |
| - 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 TAOK1_RARA |
| 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 |
| Tgene | RARA | P10276 | DB00210 | Adapalene | Retinoic acid receptor alpha | small molecule | approved |
| Tgene | RARA | P10276 | DB00459 | Acitretin | Retinoic acid receptor alpha | small molecule | approved |
| Tgene | RARA | P10276 | DB00982 | Isotretinoin | Retinoic acid receptor alpha | small molecule | approved |
| Tgene | RARA | P10276 | DB00523 | Alitretinoin | Retinoic acid receptor alpha | small molecule | approved|investigational |
| Tgene | RARA | P10276 | DB00799 | Tazarotene | Retinoic acid receptor alpha | small molecule | approved|investigational |
| Tgene | RARA | P10276 | DB00755 | Tretinoin | Retinoic acid receptor alpha | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for TAOK1_RARA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TAOK1 | C0018781 | Noise-induced hearing loss | 1 | CTD_human |
| Tgene | RARA | C0023487 | Acute Promyelocytic Leukemia | 22 | CTD_human;HPO;ORPHANET |
| Tgene | RARA | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | RARA | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | RARA | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| Tgene | RARA | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
| Tgene | RARA | C0149940 | Sciatic Neuropathy | 1 | CTD_human |
| Tgene | RARA | C0206650 | Fibroadenoma | 1 | CTD_human |
| Tgene | RARA | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | RARA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | RARA | C2239176 | Liver carcinoma | 1 | CTD_human |
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