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Kinase Fusion Gene:FGF13_CSF1R |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: FGF13_CSF1R | KinaseFusionDB ID: KFG2294 | FusionGDB2.0 ID: KFG2294 | Hgene | Tgene | Gene symbol | FGF13 | CSF1R | Gene ID | 2258 | 1436 | |
| Gene name | fibroblast growth factor 13 | colony stimulating factor 1 receptor | ||||||||||
| Synonyms | DEE90|FGF-13|FGF2|FHF-2|FHF2|LINC00889|XLID110 | BANDDOS|C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|GPSC|HDLS|HDLS1|M-CSF-R | ||||||||||
| Cytomap | Xq26.3-q27.1 | 5q32 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | fibroblast growth factor 13fibroblast growth factor homologous factor 2 | 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 | ||||||||||
| Modification date | 20240323 | 20240416 | ||||||||||
| UniProtAcc | Q92913 | P07333 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000305414, ENST00000315930, ENST00000370603, ENST00000441825, ENST00000541469, | ENST00000286301, ENST00000515239, ENST00000543093, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGF13 [Title/Abstract] AND CSF1R [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FGF13(138062868)-CSF1R(149432858), # samples:2 | |||||||||||
| 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 | FGF13 | GO:0000165 | MAPK cascade | 12244047 |
| Hgene | FGF13 | GO:1905152 | positive regulation of voltage-gated sodium channel activity | 36696443 |
| Tgene | CSF1R | GO:0018108 | peptidyl-tyrosine phosphorylation | 20504948 |
| Tgene | CSF1R | GO:0046777 | protein autophosphorylation | 20504948 |
| Kinase Fusion gene breakpoints across FGF13 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across CSF1R (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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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChiTaRS5.0 | BM144459 | FGF13 | chrX | 138062868 | CSF1R | chr5 | 149432858 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase 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/:138062868/:149432858) - 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 |
| FGF13 | CSF1R |
| FUNCTION: Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). Regulates voltage-gated sodium channel transport and function (PubMed:15282281, PubMed:33245860, PubMed:36696443). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity). {ECO:0000250|UniProtKB:P70377, ECO:0000269|PubMed:15282281, ECO:0000269|PubMed:33245860, ECO:0000269|PubMed:36696443}. | FUNCTION: Tyrosine-protein kinase that acts as a cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding, including the ERK1/2 and the JNK pathway (PubMed:20504948, PubMed:30982609). Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. 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 its downstream effectors, and by rapid internalization of the activated receptor. In the central nervous system, may play a role in the development of microglia macrophages (PubMed:30982608). {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:30982608, ECO:0000269|PubMed:30982609, ECO:0000269|PubMed:7683918}. |
| 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 domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of FGF13_CSF1R |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| CSF1R | P07333 | human | CSF1R | P07333 | Y809 | DIMNDSNyIVkGNAR | PK_Tyr_Ser-Thr |
| CSF1R | P07333 | human | CSF1R | P07333 | Y561 | EsyEGNsytFIDPtQ | |
| CSF1R | P07333 | human | CSF1R | P07333 | Y699 | DPEGGVDyKNIHLEK | PK_Tyr_Ser-Thr |
| CSF1R | P07333 | human | CSF1R | P07333 | Y546 | KYKQKPKyQVRWKII |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| CSF1R | ID | Description | 0.00e+00 |
| CSF1R | GO:0036006 | cellular response to macrophage colony-stimulating factor stimulus | 1.14e-02 |
| CSF1R | GO:0061517 | macrophage proliferation | 1.14e-02 |
| CSF1R | GO:0036005 | response to macrophage colony-stimulating factor | 1.14e-02 |
| CSF1R | GO:0045217 | cell-cell junction maintenance | 1.14e-02 |
| CSF1R | GO:0010759 | positive regulation of macrophage chemotaxis | 1.14e-02 |
| CSF1R | GO:0044794 | positive regulation by host of viral process | 1.14e-02 |
| CSF1R | GO:1905523 | positive regulation of macrophage migration | 1.14e-02 |
| CSF1R | GO:0010758 | regulation of macrophage chemotaxis | 1.14e-02 |
| CSF1R | GO:0060603 | mammary gland duct morphogenesis | 1.14e-02 |
| CSF1R | GO:0061098 | positive regulation of protein tyrosine kinase activity | 1.14e-02 |
| CSF1R | GO:0021772 | olfactory bulb development | 1.14e-02 |
| CSF1R | GO:0030224 | monocyte differentiation | 1.14e-02 |
| CSF1R | GO:0021988 | olfactory lobe development | 1.14e-02 |
| CSF1R | GO:0048246 | macrophage chemotaxis | 1.14e-02 |
| CSF1R | GO:0045124 | regulation of bone resorption | 1.14e-02 |
| CSF1R | GO:0060443 | mammary gland morphogenesis | 1.14e-02 |
| CSF1R | GO:0021879 | forebrain neuron differentiation | 1.14e-02 |
| CSF1R | GO:0034331 | cell junction maintenance | 1.14e-02 |
| CSF1R | GO:1905521 | regulation of macrophage migration | 1.14e-02 |
| CSF1R | GO:0046850 | regulation of bone remodeling | 1.14e-02 |
| CSF1R | GO:0044788 | modulation by host of viral process | 1.14e-02 |
| CSF1R | GO:0021872 | forebrain generation of neurons | 1.14e-02 |
| CSF1R | GO:0071622 | regulation of granulocyte chemotaxis | 1.14e-02 |
| CSF1R | GO:0031529 | ruffle organization | 1.14e-02 |
| CSF1R | GO:0061097 | regulation of protein tyrosine kinase activity | 1.14e-02 |
| CSF1R | GO:0014009 | glial cell proliferation | 1.14e-02 |
| CSF1R | GO:1905517 | macrophage migration | 1.14e-02 |
| CSF1R | GO:0002931 | response to ischemia | 1.14e-02 |
| CSF1R | GO:0030225 | macrophage differentiation | 1.14e-02 |
| CSF1R | GO:0045453 | bone resorption | 1.14e-02 |
| CSF1R | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 1.14e-02 |
| CSF1R | GO:0061180 | mammary gland epithelium development | 1.14e-02 |
| CSF1R | GO:0032722 | positive regulation of chemokine production | 1.17e-02 |
| CSF1R | GO:0043954 | cellular component maintenance | 1.17e-02 |
| CSF1R | GO:0042509 | regulation of tyrosine phosphorylation of STAT protein | 1.23e-02 |
| CSF1R | GO:0007260 | tyrosine phosphorylation of STAT protein | 1.26e-02 |
| CSF1R | GO:0034103 | regulation of tissue remodeling | 1.26e-02 |
| CSF1R | GO:0051851 | modulation by host of symbiont process | 1.26e-02 |
| CSF1R | GO:0046849 | bone remodeling | 1.26e-02 |
| CSF1R | GO:0002690 | positive regulation of leukocyte chemotaxis | 1.32e-02 |
| CSF1R | GO:0032642 | regulation of chemokine production | 1.36e-02 |
| CSF1R | GO:0032602 | chemokine production | 1.36e-02 |
| CSF1R | GO:0030316 | osteoclast differentiation | 1.36e-02 |
| CSF1R | GO:0051702 | biological process involved in interaction with symbiont | 1.48e-02 |
| CSF1R | GO:0022612 | gland morphogenesis | 1.48e-02 |
| CSF1R | GO:0071675 | regulation of mononuclear cell migration | 1.48e-02 |
| CSF1R | GO:0002688 | regulation of leukocyte chemotaxis | 1.48e-02 |
| CSF1R | GO:0071621 | granulocyte chemotaxis | 1.49e-02 |
| CSF1R | GO:0030879 | mammary gland development | 1.50e-02 |
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Related Drugs to FGF13_CSF1R |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning FGF13-CSF1R and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to FGF13_CSF1R |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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