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Fusion gene ID: 17410 |
FusionGeneSummary for IL6ST_BTG2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IL6ST_BTG2 | Fusion gene ID: 17410 | Hgene | Tgene | Gene symbol | IL6ST | BTG2 | Gene ID | 3572 | 7832 |
| Gene name | interleukin 6 signal transducer | BTG anti-proliferation factor 2 | |
| Synonyms | CD130|CDW130|GP130|IL-6RB | APRO1|PC3|TIS21 | |
| Cytomap | 5q11.2 | 1q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interleukin-6 receptor subunit betaCD130 antigenIL-6 receptor subunit betaIL-6R subunit betagp130 of the rheumatoid arthritis antigenic peptide-bearing soluble formgp130, oncostatin M receptorinterleukin receptor beta chainmembrane glycoprotein 130 | protein BTG2B-cell translocation gene 2BTG family member 2NGF-inducible anti-proliferative protein PC3nerve growth factor-inducible anti-proliferativepheochromacytoma cell-3 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P40189 | P78543 | |
| Ensembl transtripts involved in fusion gene | ENST00000381298, ENST00000336909, ENST00000381287, ENST00000502326, ENST00000381294, ENST00000536319, ENST00000381293, ENST00000381286, ENST00000522633, ENST00000396816, ENST00000577363, | ENST00000290551, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 3 X 5 X 1=15 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/15*10)=2 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: IL6ST [Title/Abstract] AND BTG2 [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 | IL6ST | GO:0008284 | positive regulation of cell proliferation | 2261637 |
| Hgene | IL6ST | GO:0019221 | cytokine-mediated signaling pathway | 2261637 |
| Hgene | IL6ST | GO:0034097 | response to cytokine | 2261637|8999038 |
| Hgene | IL6ST | GO:0048861 | leukemia inhibitory factor signaling pathway | 8999038|12643274 |
| Hgene | IL6ST | GO:0070120 | ciliary neurotrophic factor-mediated signaling pathway | 12643274 |
| Tgene | BTG2 | GO:0006974 | cellular response to DNA damage stimulus | 8944033 |
| Tgene | BTG2 | GO:0017148 | negative regulation of translation | 23236473 |
| Tgene | BTG2 | GO:0060213 | positive regulation of nuclear-transcribed mRNA poly(A) tail shortening | 18337750 |
| 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 | AI660373 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| * 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 | ENST00000381298 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000336909 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000381287 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000502326 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000381294 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000536319 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000381293 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000381286 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000522633 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000396816 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
| intron-3UTR | ENST00000577363 | ENST00000290551 | IL6ST | chr5 | 55240764 | - | BTG2 | chr1 | 203277055 | - |
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FusionProtFeatures for IL6ST_BTG2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IL6ST | BTG2 |
| Signal-transducing molecule. The receptor systems forIL6, LIF, OSM, CNTF, IL11, CTF1 and BSF3 can utilize IL6ST forinitiating signal transmission. Binding of IL6 to IL6R inducesIL6ST homodimerization and formation of a high-affinity receptorcomplex, which activates Janus kinases (PubMed:2261637). Thatcauses phosphorylation of IL6ST tyrosine residues which in turnactivates STAT3 (PubMed:19915009, PubMed:23294003). Mediatessignals which regulate immune response, hematopoiesis, paincontrol and bone metabolism (By similarity). Has a role inembryonic development (By similarity). Does not bind IL6(PubMed:2261637). Essential for survival of motor and sensoryneurons and for differentiation of astrocytes (By similarity).Required for expression of TRPA1 in nociceptive neurons (Bysimilarity). Required for the maintenance of PTH1R expression inthe osteoblast lineage and for the stimulation of PTH-inducedosteoblast differentiation (By similarity). Required for normaltrabecular bone mass and cortical bone composition (Bysimilarity). {ECO:0000250|UniProtKB:Q00560,ECO:0000269|PubMed:19915009, ECO:0000269|PubMed:2261637,ECO:0000269|PubMed:23294003}. | Anti-proliferative protein; the function is mediated byassociation with deadenylase subunits of the CCR4-NOT complex.Activates mRNA deadenylation in a CNOT6 and CNOT7-dependentmanner. In vitro can inhibit deadenylase activity of CNOT7 andCNOT8. Involved in cell cycle regulation. Could be involved in thegrowth arrest and differentiation of the neuronal precursors (Bysimilarity). Modulates transcription regulation mediated by ESR1.Involved in mitochondrial depolarization and neurite outgrowth.{ECO:0000250, ECO:0000269|PubMed:12771185,ECO:0000269|PubMed:15788397, ECO:0000269|PubMed:18337750,ECO:0000269|PubMed:18773938, ECO:0000269|PubMed:23236473}. |
| 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 IL6ST_BTG2 |
| 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 IL6ST_BTG2 |
| 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 IL6ST_BTG2 |
| 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 IL6ST_BTG2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IL6ST | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Hgene | IL6ST | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | IL6ST | C0020517 | Hypersensitivity | 1 | CTD_human |
| Hgene | IL6ST | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | IL6ST | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | IL6ST | C0032285 | Pneumonia | 1 | CTD_human |
| Hgene | IL6ST | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Hgene | IL6ST | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | IL6ST | C0740392 | Infarction, Middle Cerebral Artery | 1 | CTD_human |
| Hgene | IL6ST | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | BTG2 | C0263454 | Chloracne | 1 | CTD_human |
| Tgene | BTG2 | C2239176 | Liver carcinoma | 1 | CTD_human |
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