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Fusion gene ID: 40208 |
FusionGeneSummary for TXNIP_KARS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TXNIP_KARS | Fusion gene ID: 40208 | Hgene | Tgene | Gene symbol | TXNIP | KARS | Gene ID | 10628 | 3735 |
| Gene name | thioredoxin interacting protein | lysyl-tRNA synthetase | |
| Synonyms | ARRDC6|EST01027|HHCPA78|THIF|VDUP1 | CMTRIB|DFNB89|KARS1|KARS2|KRS | |
| Cytomap | 1q21.1 | 16q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | thioredoxin-interacting proteinthioredoxin binding protein 2upregulated by 1,25-dihydroxyvitamin D-3vitamin D3 up-regulated protein 1 | lysine--tRNA ligaselysRSlysine tRNA ligase | |
| Modification date | 20180520 | 20180519 | |
| UniProtAcc | Q9H3M7 | Q15046 | |
| Ensembl transtripts involved in fusion gene | ENST00000369317, ENST00000475171, | ENST00000319410, ENST00000302445, ENST00000568378, | |
| Fusion gene scores | * DoF score | 4 X 5 X 1=20 | 5 X 5 X 3=75 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/20*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TXNIP [Title/Abstract] AND KARS [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 | TXNIP | GO:0030216 | keratinocyte differentiation | 14632196 |
| Hgene | TXNIP | GO:0051782 | negative regulation of cell division | 18541147 |
| Hgene | TXNIP | GO:0071228 | cellular response to tumor cell | 18541147 |
| Tgene | KARS | GO:0000187 | activation of MAPK activity | 15851690 |
| Tgene | KARS | GO:0002741 | positive regulation of cytokine secretion involved in immune response | 15851690 |
| Tgene | KARS | GO:0006430 | lysyl-tRNA aminoacylation | 9278442|10952987|23159739 |
| Tgene | KARS | GO:0008285 | negative regulation of cell proliferation | 15851690 |
| Tgene | KARS | GO:0010759 | positive regulation of macrophage chemotaxis | 15851690 |
| Tgene | KARS | GO:0015966 | diadenosine tetraphosphate biosynthetic process | 23159739 |
| Tgene | KARS | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 15851690 |
| Tgene | KARS | GO:0043032 | positive regulation of macrophage activation | 15851690 |
| Tgene | KARS | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 15851690 |
| Tgene | KARS | GO:1900017 | positive regulation of cytokine production involved in inflammatory response | 15851690 |
| Tgene | KARS | GO:1900745 | positive regulation of p38MAPK cascade | 15851690 |
| Tgene | KARS | GO:1905050 | positive regulation of metallopeptidase activity | 15851690 |
| 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 | BQ375676 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
| * 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 |
| 3UTR-3CDS | ENST00000369317 | ENST00000319410 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
| 3UTR-3CDS | ENST00000369317 | ENST00000302445 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
| 3UTR-intron | ENST00000369317 | ENST00000568378 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
| 3UTR-3CDS | ENST00000475171 | ENST00000319410 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
| 3UTR-3CDS | ENST00000475171 | ENST00000302445 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
| 3UTR-intron | ENST00000475171 | ENST00000568378 | TXNIP | chr1 | 145441790 | - | KARS | chr16 | 75668166 | - |
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FusionProtFeatures for TXNIP_KARS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TXNIP | KARS |
| May act as an oxidative stress mediator by inhibitingthioredoxin activity or by limiting its bioavailability. Interactswith COPS5 and restores COPS5-induced suppression of CDKN1Bstability, blocking the COPS5-mediated translocation of CDKN1Bfrom the nucleus to the cytoplasm. Functions as a transcriptionalrepressor, possibly by acting as a bridge molecule betweentranscription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest. Required for thematuration of natural killer cells. Acts as a suppressor of tumorcell growth. Inhibits the proteasomal degradation of DDIT4, andthereby contributes to the inhibition of the mammalian target ofrapamycin complex 1 (mTORC1). {ECO:0000269|PubMed:12821938,ECO:0000269|PubMed:17603038, ECO:0000269|PubMed:18541147,ECO:0000269|PubMed:21460850}. | Catalyzes the specific attachment of an amino acid toits cognate tRNA in a 2 step reaction: the amino acid (AA) isfirst activated by ATP to form AA-AMP and then transferred to theacceptor end of the tRNA (PubMed:9278442, PubMed:18029264,PubMed:18272479). When secreted, acts as a signaling molecule thatinduces immune response through the activation ofmonocyte/macrophages (PubMed:15851690). Catalyzes the synthesis ofthe signaling molecule diadenosine tetraphosphate (Ap4A), andthereby mediates disruption of the complex between HINT1 and MITFand the concomitant activation of MITF transcriptional activity(PubMed:5338216, PubMed:14975237, PubMed:19524539,PubMed:23159739). {ECO:0000269|PubMed:14975237,ECO:0000269|PubMed:15851690, ECO:0000269|PubMed:18029264,ECO:0000269|PubMed:19524539, ECO:0000269|PubMed:28887846,ECO:0000269|PubMed:5338216, ECO:0000269|PubMed:9278442}. (Microbial infection) Interacts with HIV-1 virus GAGprotein, facilitating the selective packaging of tRNA(3)(Lys), theprimer for reverse transcription initiation.{ECO:0000269|PubMed:15220430}. |
| 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 TXNIP_KARS |
| 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 TXNIP_KARS |
| 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 TXNIP_KARS |
| 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 | KARS | Q15046 | DB00123 | L-Lysine | Lysine--tRNA ligase | small molecule | approved|nutraceutical |
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RelatedDiseases for TXNIP_KARS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TXNIP | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | TXNIP | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| Hgene | TXNIP | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | TXNIP | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | KARS | C3150897 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | KARS | C3151351 | DEAFNESS, AUTOSOMAL RECESSIVE 89 | 1 | UNIPROT |
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