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Fusion Protein:MINOS1-IL6R |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: MINOS1-IL6R | FusionPDB ID: 53704 | FusionGDB2.0 ID: 53704 | Hgene | Tgene | Gene symbol | MINOS1 | IL6R | Gene ID | 440574 | 3570 |
| Gene name | mitochondrial contact site and cristae organizing system subunit 10 | interleukin 6 receptor | |
| Synonyms | C1orf151|MINOS1|MIO10|Mic10 | CD126|IL-6R-1|IL-6RA|IL6Q|IL6RA|IL6RQ|gp80 | |
| Cytomap | 1p36.13 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MICOS complex subunit MIC10RP5-1056L3.2UPF0327 protein C1orf151mitochondrial inner membrane organizing system 1mitochondrial inner membrane organizing system protein 1 | interleukin-6 receptor subunit alphaCD126 antigenIL-6 receptor subunit alphaIL-6R 1membrane glycoprotein 80 | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | . | P08887 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000486890, ENST00000322753, | ENST00000344086, ENST00000368485, ENST00000507256, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 24 X 15 X 4=1440 | 2 X 3 X 2=12 |
| # samples | 26 | 3 | |
| ** MAII score | log2(26/1440*10)=-2.46948528330122 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: MINOS1 [Title/Abstract] AND IL6R [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MINOS1(19923603)-IL6R(154420601), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | MINOS1-IL6R seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MINOS1-IL6R seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 |
| Tgene | IL6R | GO:0008284 | positive regulation of cell proliferation | 2261637 |
| Tgene | IL6R | GO:0019221 | cytokine-mediated signaling pathway | 2261637 |
| Tgene | IL6R | GO:0032722 | positive regulation of chemokine production | 10510402 |
| Tgene | IL6R | GO:0032755 | positive regulation of interleukin-6 production | 10510402 |
| Tgene | IL6R | GO:0034097 | response to cytokine | 2261637 |
| Tgene | IL6R | GO:0048661 | positive regulation of smooth muscle cell proliferation | 10510402 |
| Tgene | IL6R | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 11884403 |
| Fusion gene breakpoints across MINOS1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across IL6R (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | STAD | TCGA-BR-A44T-01A | MINOS1 | chr1 | 19923603 | + | IL6R | chr1 | 154420601 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000322753 | MINOS1 | chr1 | 19923603 | + | ENST00000368485 | IL6R | chr1 | 154420601 | + | 4648 | 120 | 35 | 577 | 180 |
| ENST00000322753 | MINOS1 | chr1 | 19923603 | + | ENST00000344086 | IL6R | chr1 | 154420601 | + | 1981 | 120 | 504 | 1 | 168 |
| 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 |
| ENST00000322753 | ENST00000368485 | MINOS1 | chr1 | 19923603 | + | IL6R | chr1 | 154420601 | + | 0.01800008 | 0.98199993 |
| ENST00000322753 | ENST00000344086 | MINOS1 | chr1 | 19923603 | + | IL6R | chr1 | 154420601 | + | 0.8733482 | 0.12665181 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >53704_53704_1_MINOS1-IL6R_MINOS1_chr1_19923603_ENST00000322753_IL6R_chr1_154420601_ENST00000344086_length(amino acids)=168AA_BP=1 MLVPPSQLSGEEVVCIADVIRAPWVPGIWSVVARGIVRPQAAGGHRWGDERNKHWGGSRPLRDQLPQRVRRMHACLAFLQSPQLPRLLEP -------------------------------------------------------------- >53704_53704_2_MINOS1-IL6R_MINOS1_chr1_19923603_ENST00000322753_IL6R_chr1_154420601_ENST00000368485_length(amino acids)=180AA_BP=28 MEARVGNMSESELGRKWDRCLADAVVKIESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGT LLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:19923603/chr1:154420601) - 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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | 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}. |
| 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. |
| - 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 |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 387_468 | 316.3333333333333 | 366.0 | Topological domain | Cytoplasmic | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 387_468 | 316.3333333333333 | 469.0 | Topological domain | Cytoplasmic | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 366_386 | 316.3333333333333 | 366.0 | Transmembrane | Helical | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 366_386 | 316.3333333333333 | 469.0 | Transmembrane | Helical |
| - 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 |
| Hgene | MINOS1 | chr1:19923603 | chr1:154420601 | ENST00000322753 | + | 1 | 4 | 37_78 | 21.333333333333332 | 79.0 | Topological domain | Mitochondrial intermembrane |
| Hgene | MINOS1 | chr1:19923603 | chr1:154420601 | ENST00000322753 | + | 1 | 4 | 17_36 | 21.333333333333332 | 79.0 | Transmembrane | Helical |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 113_217 | 316.3333333333333 | 366.0 | Domain | Fibronectin type-III 1 | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 218_316 | 316.3333333333333 | 366.0 | Domain | Fibronectin type-III 2 | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 26_112 | 316.3333333333333 | 366.0 | Domain | Note=Ig-like C2-type | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 113_217 | 316.3333333333333 | 469.0 | Domain | Fibronectin type-III 1 | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 218_316 | 316.3333333333333 | 469.0 | Domain | Fibronectin type-III 2 | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 26_112 | 316.3333333333333 | 469.0 | Domain | Note=Ig-like C2-type | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 303_307 | 316.3333333333333 | 366.0 | Motif | Note=WSXWS motif | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 303_307 | 316.3333333333333 | 469.0 | Motif | Note=WSXWS motif | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000344086 | 5 | 9 | 20_365 | 316.3333333333333 | 366.0 | Topological domain | Extracellular | |
| Tgene | IL6R | chr1:19923603 | chr1:154420601 | ENST00000368485 | 5 | 10 | 20_365 | 316.3333333333333 | 469.0 | Topological domain | Extracellular |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| IL6R | IL6, CNTF, IL6ST, STAT3, ADRB2, TBCK, PPP1R21, MID1, C12orf4, CRYZL1, FANCB, FANCL, C17orf70, CETN2, COPRS, HNRNPL, SGTB, ATM, LCK, PIK3R3, TNF, FBXO2, PDDC1, |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| MINOS1 | |
| IL6R |  |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to MINOS1-IL6R |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MINOS1-IL6R |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | IL6R | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| Tgene | IL6R | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human |
| Tgene | IL6R | C0004096 | Asthma | 1 | CTD_human |
| Tgene | IL6R | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | IL6R | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | IL6R | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | IL6R | C0011581 | Depressive disorder | 1 | PSYGENET |
| Tgene | IL6R | C0013595 | Eczema | 1 | GENOMICS_ENGLAND |
| Tgene | IL6R | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Tgene | IL6R | C0029456 | Osteoporosis | 1 | CTD_human |
| Tgene | IL6R | C0029459 | Osteoporosis, Senile | 1 | CTD_human |
| Tgene | IL6R | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | IL6R | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | IL6R | C0239998 | Recurrent infections | 1 | GENOMICS_ENGLAND |
| Tgene | IL6R | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | IL6R | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human |
| Tgene | IL6R | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | IL6R | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | IL6R | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
| Tgene | IL6R | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | IL6R | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
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