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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:IL6R-TDRD10 (FusionGDB2 ID:HG3570TG126668) |
Fusion Gene Summary for IL6R-TDRD10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: IL6R-TDRD10 | Fusion gene ID: hg3570tg126668 | Hgene | Tgene | Gene symbol | IL6R | TDRD10 | Gene ID | 3570 | 126668 |
| Gene name | interleukin 6 receptor | tudor domain containing 10 | |
| Synonyms | CD126|IL-6R-1|IL-6RA|IL6Q|IL6RA|IL6RQ|gp80 | - | |
| Cytomap | ('IL6R')('TDRD10') 1q21.3 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | interleukin-6 receptor subunit alphaCD126 antigenIL-6 receptor subunit alphaIL-6R 1membrane glycoprotein 80 | tudor domain-containing protein 10 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P08887 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000507256, ENST00000344086, ENST00000368485, | ||
| Fusion gene scores | * DoF score | 5 X 6 X 5=150 | 3 X 3 X 4=36 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: IL6R [Title/Abstract] AND TDRD10 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | IL6R(154407632)-TDRD10(154519885), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | IL6R-TDRD10 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 | IL6R | GO:0008284 | positive regulation of cell proliferation | 2261637 |
| Hgene | IL6R | GO:0019221 | cytokine-mediated signaling pathway | 2261637 |
| Hgene | IL6R | GO:0032722 | positive regulation of chemokine production | 10510402 |
| Hgene | IL6R | GO:0032755 | positive regulation of interleukin-6 production | 10510402 |
| Hgene | IL6R | GO:0034097 | response to cytokine | 2261637 |
| Hgene | IL6R | GO:0048661 | positive regulation of smooth muscle cell proliferation | 10510402 |
| Hgene | IL6R | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 11884403 |
| Fusion gene information * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | ACC | TCGA-OR-A5LS-01A | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| ChimerDB4 | LIHC | TCGA-DD-AAE1-01A | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
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Fusion Gene ORF analysis for IL6R-TDRD10 |
| 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 | ENST00000507256 | ENST00000368480 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| 3UTR-3CDS | ENST00000507256 | ENST00000368482 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| 3UTR-3UTR | ENST00000507256 | ENST00000479937 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| 5CDS-3UTR | ENST00000344086 | ENST00000479937 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| 5CDS-3UTR | ENST00000344086 | ENST00000479937 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| 5CDS-3UTR | ENST00000368485 | ENST00000479937 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| 5CDS-3UTR | ENST00000368485 | ENST00000479937 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| Frame-shift | ENST00000344086 | ENST00000368480 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| Frame-shift | ENST00000344086 | ENST00000368480 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| Frame-shift | ENST00000344086 | ENST00000368482 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| Frame-shift | ENST00000344086 | ENST00000368482 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| Frame-shift | ENST00000368485 | ENST00000368480 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| Frame-shift | ENST00000368485 | ENST00000368480 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| Frame-shift | ENST00000368485 | ENST00000368482 | IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519885 | + |
| Frame-shift | ENST00000368485 | ENST00000368482 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| intron-3CDS | ENST00000507256 | ENST00000368480 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| intron-3CDS | ENST00000507256 | ENST00000368482 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| intron-3UTR | ENST00000507256 | ENST00000479937 | IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514500 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for IL6R-TDRD10 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519884 | + | 1.75E-06 | 0.9999982 |
| IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514499 | + | 2.63E-07 | 0.99999976 |
| IL6R | chr1 | 154407632 | + | TDRD10 | chr1 | 154519884 | + | 1.75E-06 | 0.9999982 |
| IL6R | chr1 | 154408586 | + | TDRD10 | chr1 | 154514499 | + | 2.63E-07 | 0.99999976 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for IL6R-TDRD10 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:154407632/:154519885) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| IL6R | . |
| FUNCTION: Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to the regulation of the immune response, acute-phase reactions and hematopoiesis (PubMed:30995492, PubMed:31235509). The interaction with membrane-bound IL6R and IL6ST stimulates 'classic signaling', the restricted expression of the IL6R limits classic IL6 signaling to only a few tissues such as the liver and some cells of the immune system. Whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable). {ECO:0000269|PubMed:28265003, ECO:0000269|PubMed:31235509, ECO:0000305|PubMed:30995492}.; FUNCTION: [Isoform 1]: Signaling via the membrane-bound IL6R is mostly regenerative and anti-inflammatory (Probable). Drives naive CD4(+) T cells to the Th17 lineage, through 'cluster signaling' by dendritic cells (By similarity). {ECO:0000250|UniProtKB:P22272, ECO:0000305|PubMed:30995492}.; FUNCTION: [Isoform 2]: Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the proinflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity). {ECO:0000250|UniProtKB:P22272, ECO:0000269|PubMed:12794819, ECO:0000269|PubMed:21990364}.; FUNCTION: [Soluble interleukin-6 receptor subunit alpha]: Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the proinflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity). {ECO:0000250|UniProtKB:P22272, ECO:0000269|PubMed:12794819, ECO:0000269|PubMed:21990364}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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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Fusion Gene Sequence for IL6R-TDRD10 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for IL6R-TDRD10 |
| 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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Related Drugs for IL6R-TDRD10 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | IL6R | P08887 | DB06273 | Tocilizumab | Antibody|Inhibitor | Biotech | Approved |
| Hgene | IL6R | P08887 | DB15762 | Satralizumab | Binder | Biotech | Approved |
| Hgene | IL6R | P08887 | DB11767 | Sarilumab | Antagonist|Antibody | Biotech | Approved|Investigational |
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Related Diseases for IL6R-TDRD10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | IL6R | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| Hgene | IL6R | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
| Hgene | IL6R | C0004096 | Asthma | 1 | CTD_human |
| Hgene | IL6R | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | IL6R | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | IL6R | C0011570 | Mental Depression | 1 | PSYGENET |
| Hgene | IL6R | C0011581 | Depressive disorder | 1 | PSYGENET |
| Hgene | IL6R | C0013595 | Eczema | 1 | GENOMICS_ENGLAND |
| Hgene | IL6R | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Hgene | IL6R | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | IL6R | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
| Hgene | IL6R | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | IL6R | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | IL6R | C0239998 | Recurrent infections | 1 | GENOMICS_ENGLAND |
| Hgene | IL6R | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | IL6R | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
| Hgene | IL6R | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | IL6R | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | IL6R | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
| Hgene | IL6R | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | IL6R | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
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