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Fusion gene ID: 8585 |
FusionGeneSummary for CSF1R_RCOR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CSF1R_RCOR1 | Fusion gene ID: 8585 | Hgene | Tgene | Gene symbol | CSF1R | RCOR1 | Gene ID | 1436 | 23186 |
| Gene name | colony stimulating factor 1 receptor | REST corepressor 1 | |
| Synonyms | C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-R | COREST|RCOR | |
| Cytomap | 5q32 | 14q32.31-q32.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | macrophage colony-stimulating factor 1 receptorCD115 antigenCSF-1 receptorFMS proto-oncogeneMcDonough feline sarcoma viral (v-fms) oncogene homologmacrophage colony stimulating factor I receptorproto-oncogene c-Fms | REST corepressor 1 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P07333 | Q9UKL0 | |
| Ensembl transtripts involved in fusion gene | ENST00000286301, ENST00000515239, ENST00000543093, | ENST00000262241, ENST00000570597, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 6 X 7 X 4=168 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/9*10)=2.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CSF1R [Title/Abstract] AND RCOR1 [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 | CSF1R | GO:0018108 | peptidyl-tyrosine phosphorylation | 20504948 |
| Hgene | CSF1R | GO:0046777 | protein autophosphorylation | 20504948 |
| Tgene | RCOR1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10449787 |
| Tgene | RCOR1 | GO:0070933 | histone H4 deacetylation | 17555596 |
| 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 | BI050908 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
| * 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-intron | ENST00000286301 | ENST00000262241 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
| intron-intron | ENST00000286301 | ENST00000570597 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
| intron-intron | ENST00000515239 | ENST00000262241 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
| intron-intron | ENST00000515239 | ENST00000570597 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
| intron-intron | ENST00000543093 | ENST00000262241 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
| intron-intron | ENST00000543093 | ENST00000570597 | CSF1R | chr5 | 149449829 | + | RCOR1 | chr14 | 103084883 | + |
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FusionProtFeatures for CSF1R_RCOR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CSF1R | RCOR1 |
| Tyrosine-protein kinase that acts as cell-surfacereceptor for CSF1 and IL34 and plays an essential role in theregulation of survival, proliferation and differentiation ofhematopoietic precursor cells, especially mononuclear phagocytes,such as macrophages and monocytes. Promotes the release ofproinflammatory chemokines in response to IL34 and CSF1, andthereby plays an important role in innate immunity and ininflammatory processes. Plays an important role in the regulationof osteoclast proliferation and differentiation, the regulation ofbone resorption, and is required for normal bone and toothdevelopment. Required for normal male and female fertility, andfor normal development of milk ducts and acinar structures in themammary gland during pregnancy. Promotes reorganization of theactin cytoskeleton, regulates formation of membrane ruffles, celladhesion and cell migration, and promotes cancer cell invasion.Activates several signaling pathways in response to ligandbinding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL.Activation of PLCG2 leads to the production of the cellularsignaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinaseC family members, especially PRKCD. Phosphorylation of PIK3R1, theregulatory subunit of phosphatidylinositol 3-kinase, leads toactivation of the AKT1 signaling pathway. Activated CSF1R alsomediates activation of the MAP kinases MAPK1/ERK2 and/orMAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1.Activated CSF1R transmits signals both via proteins that directlyinteract with phosphorylated tyrosine residues in itsintracellular domain, or via adapter proteins, such as GRB2.Promotes activation of STAT family members STAT3, STAT5A and/orSTAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases,such as INPP5D/SHIP-1, that dephosphorylate the receptor and itsdownstream effectors, and by rapid internalization of theactivated receptor. {ECO:0000269|PubMed:12882960,ECO:0000269|PubMed:15117969, ECO:0000269|PubMed:16170366,ECO:0000269|PubMed:16337366, ECO:0000269|PubMed:16648572,ECO:0000269|PubMed:17121910, ECO:0000269|PubMed:18467591,ECO:0000269|PubMed:18814279, ECO:0000269|PubMed:19193011,ECO:0000269|PubMed:19934330, ECO:0000269|PubMed:20489731,ECO:0000269|PubMed:20504948, ECO:0000269|PubMed:20829061,ECO:0000269|PubMed:7683918}. | Essential component of the BHC complex, a corepressorcomplex that represses transcription of neuron-specific genes innon-neuronal cells. The BHC complex is recruited at RE1/NRSE sitesby REST and acts by deacetylating and demethylating specific siteson histones, thereby acting as a chromatin modifier. In the BHCcomplex, it serves as a molecular beacon for the recruitment ofmolecular machinery, including MeCP2 and SUV39H1, that imposessilencing across a chromosomal interval. Plays a central role indemethylation of Lys-4 of histone H3 by promoting demethylaseactivity of KDM1A on core histones and nucleosomal substrates. Italso protects KDM1A from the proteasome. Component of aRCOR/GFI/KDM1A/HDAC complex that suppresses, via histonedeacetylase (HDAC) recruitment, a number of genes implicated inmultilineage blood cell development and controls hematopoieticdifferentiation. {ECO:0000269|PubMed:11171972,ECO:0000269|PubMed:11516394, ECO:0000269|PubMed:12032298,ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:12493763,ECO:0000269|PubMed:16079794, ECO:0000269|PubMed:16140033}. |
| 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 CSF1R_RCOR1 |
| 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 CSF1R_RCOR1 |
| 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 CSF1R_RCOR1 |
| 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 | CSF1R | P07333 | DB00619 | Imatinib | Macrophage colony-stimulating factor 1 receptor | small molecule | approved |
| Hgene | CSF1R | P07333 | DB01268 | Sunitinib | Macrophage colony-stimulating factor 1 receptor | small molecule | approved|investigational |
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RelatedDiseases for CSF1R_RCOR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CSF1R | C3711381 | Hereditary Diffuse Leukoencephalopathy with Spheroids | 2 | ORPHANET;UNIPROT |
| Hgene | CSF1R | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Hgene | CSF1R | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | CSF1R | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | CSF1R | C0270612 | Leukoencephalopathies | 1 | CTD_human;HPO |
| Hgene | CSF1R | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | RCOR1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
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