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Fusion gene ID: 40237 |
FusionGeneSummary for TYK2_KEAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TYK2_KEAP1 | Fusion gene ID: 40237 | Hgene | Tgene | Gene symbol | TYK2 | KEAP1 | Gene ID | 7297 | 9817 |
| Gene name | tyrosine kinase 2 | kelch like ECH associated protein 1 | |
| Synonyms | IMD35|JTK1 | INrf2|KLHL19 | |
| Cytomap | 19p13.2 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | non-receptor tyrosine-protein kinase TYK2 | kelch-like ECH-associated protein 1KEAP1 delta Ccytosolic inhibitor of Nrf2kelch-like family member 19kelch-like protein 19 | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | P29597 | Q14145 | |
| Ensembl transtripts involved in fusion gene | ENST00000264818, ENST00000524462, ENST00000525621, ENST00000529370, ENST00000529422, | ENST00000171111, ENST00000393623, ENST00000588024, | |
| Fusion gene scores | * DoF score | 8 X 6 X 7=336 | 2 X 2 X 2=8 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TYK2 [Title/Abstract] AND KEAP1 [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 | KEAP1 | GO:0010499 | proteasomal ubiquitin-independent protein catabolic process | 15983046 |
| Tgene | KEAP1 | GO:0016567 | protein ubiquitination | 15983046 |
| 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 | LD | STAD | TCGA-CD-5800-01A | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| * 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-5UTR | ENST00000264818 | ENST00000171111 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-5UTR | ENST00000264818 | ENST00000393623 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-intron | ENST00000264818 | ENST00000588024 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-5UTR | ENST00000524462 | ENST00000171111 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-5UTR | ENST00000524462 | ENST00000393623 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-intron | ENST00000524462 | ENST00000588024 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| 5UTR-5UTR | ENST00000525621 | ENST00000171111 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| 5UTR-5UTR | ENST00000525621 | ENST00000393623 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| 5UTR-intron | ENST00000525621 | ENST00000588024 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| 5UTR-5UTR | ENST00000529370 | ENST00000171111 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| 5UTR-5UTR | ENST00000529370 | ENST00000393623 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| 5UTR-intron | ENST00000529370 | ENST00000588024 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-5UTR | ENST00000529422 | ENST00000171111 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-5UTR | ENST00000529422 | ENST00000393623 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
| intron-intron | ENST00000529422 | ENST00000588024 | TYK2 | chr19 | 10490291 | - | KEAP1 | chr19 | 10610756 | - |
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FusionProtFeatures for TYK2_KEAP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TYK2 | KEAP1 |
| Probably involved in intracellular signal transductionby being involved in the initiation of type I IFN signaling.Phosphorylates the interferon-alpha/beta receptor alpha chain.{ECO:0000269|PubMed:7526154}. | Acts as a substrate adapter protein for the E3 ubiquitinligase complex formed by CUL3 and RBX1 and targets NFE2L2/NRF2 forubiquitination and degradation by the proteasome, thus resultingin the suppression of its transcriptional activity and therepression of antioxidant response element-mediated detoxifyingenzyme gene expression. Retains NFE2L2/NRF2 and may also retainBPTF in the cytosol. Targets PGAM5 for ubiquitination anddegradation by the proteasome. {ECO:0000269|PubMed:14585973,ECO:0000269|PubMed:15379550, ECO:0000269|PubMed:15572695,ECO:0000269|PubMed:15983046, ECO:0000269|PubMed:17046835}. |
| 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 TYK2_KEAP1 |
| 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 TYK2_KEAP1 |
| 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 |
| TYK2 | GNB2L1, STAT1, PRMT5, XRCC5, VAV1, IFNAR1, CRKL, JAK1, TYK2, ELP2, IL13RA1, LYN, CBL, PTPN6, PLAUR, IL6ST, FYN, PTPN1, STAM2, GHR, IRS2, DNM2, TK1, SOCS1, KLF10, LNX1, PTAFR, EIF2AK2, HSP90AA1, JAK3, COPS5, FHL3, HNRNPK, TRAF4, KRT40, KHDRBS2, SIVA1, SHMT2, MOV10, NXF1, BAG2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, DDX5, HNRNPH1, HSPB1, CEP170B, RAN, RUVBL1, RUVBL2, SLC2A1, TCP1, ALYREF, TRIM28, TUBA4A, WDR20, EFNB2, PIH1D1, TGFBR2, LRRC46, LPAR6, RNF13, ZNF333, MIER2, SIAH2, UBE2L6, LRP8, IFT43, PMEL, TNFRSF19, GMNN, IL4R, TMCO3, GPR156, CDH8, CD79A, TNFRSF13B, HAVCR2, PROSER2, LGALS3BP, C16orf71, MAS1, NLGN3 | KEAP1 | ETF1, NFE2L2, MYO7A, CUL3, AMER1, ARCN1, BBS1, GBAS, MAD2L1, MAZ, PFAS, SQSTM1, SLK, ZRANB1, USP11, BTRC, OSBPL10, COPG1, VWA8, GET4, TMEM160, FAM129B, MCMBP, TSC22D4, RBM45, SASS6, PGAM5, GABPA, GABARAP, GABARAPL1, GABARAPL2, MAP1LC3A, MAP1LC3B, RBX1, CUL2, KEAP1, IKBKB, NFE2L1, RELA, IRF1, AK4, NEIL2, KPNA6, IPO11, ENC1, TERF1, KLHL2, BPTF, SESN2, SESN1, DDIT3, DPP3, FAM117B, MCM3, WDR1, TSC22D2, FAM46A, NPM1, CLU, BAD, CAT, SNRPN, PDCD6IP, GLRX5, PIDD1, PRKCE, HSP90AA1, BCL2, GPRASP2, XPO1, PTMA, FBXW11, GYPA, PRKAG1, RECK, ATG5, NUDT4, MAPKBP1, KLHL3, LSM3, ZSCAN32, OXR1, CCNB1IP1, WDR83, UBC, SYNE4, MLST8, NEU2, CDK13, MED4, CEP135, CCNB1, MYH7, POLR2F, TUBG1, BAG3, GAR1, POLR3E, FERMT3, NAF1, BOD1L1, TRIM15, EGFR, HSP90AB1, PALB2, CDH1, PAQR3, USP15, CDH5, LEPREL2, APP, ZC3H18, SSH3, BRCA2, BRCA1, RAD51, PPP1R13L, UBE2A, CDK20, CTTN |
| - 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 TYK2_KEAP1 |
| 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 | TYK2 | P29597 | DB08895 | Tofacitinib | Non-receptor tyrosine-protein kinase TYK2 | small molecule | approved|investigational |
| Tgene | KEAP1 | Q14145 | DB08908 | Dimethyl fumarate | Kelch-like ECH-associated protein 1 | small molecule | approved|investigational |
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RelatedDiseases for TYK2_KEAP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TYK2 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | TYK2 | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | TYK2 | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| Hgene | TYK2 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
| Hgene | TYK2 | C0033860 | Psoriasis | 1 | CTD_human |
| Hgene | TYK2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | TYK2 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
| Hgene | TYK2 | C0344315 | Depressed mood | 1 | PSYGENET |
| Hgene | TYK2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | TYK2 | C1456784 | Paranoia | 1 | CTD_human |
| Tgene | KEAP1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | KEAP1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | KEAP1 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| Tgene | KEAP1 | C0017178 | Gastrointestinal Diseases | 1 | CTD_human |
| Tgene | KEAP1 | C0019158 | Hepatitis | 1 | CTD_human |
| Tgene | KEAP1 | C0022593 | Keratosis | 1 | CTD_human |
| Tgene | KEAP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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