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Kinase Fusion Gene:MYO18A_FGFR1 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: MYO18A_FGFR1 | KinaseFusionDB ID: KFG4038 | FusionGDB2.0 ID: KFG4038 | Hgene | Tgene | Gene symbol | MYO18A | FGFR1 | Gene ID | 399687 | 2260 | |
Gene name | myosin XVIIIA | fibroblast growth factor receptor 1 | ||||||||||
Synonyms | MAJN|MYSPDZ|SP-R210|SPR210|TIAF1 | BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1 | ||||||||||
Cytomap | 17q11.2 | 8p11.23 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | unconventional myosin-XVIIIa12 kDa TGF-beta-1-induced antiapoptotic factorPutative TGFB1-induced anti-apoptotic factor 1SP-A receptor subunit SP-R210 alphaSTGF-beta-1-induced antiapoptotic factor 1TGFB1-induced anti-apoptotic factor 1molecule associ | fibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr | ||||||||||
Modification date | 20240407 | 20240416 | ||||||||||
UniProtAcc | Q92614 | Q9NVK5 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000354329, ENST00000527372, ENST00000529578, ENST00000531253, ENST00000533112, | ENST00000326324, ENST00000335922, ENST00000341462, ENST00000356207, ENST00000397091, ENST00000397103, ENST00000397108, ENST00000397113, ENST00000425967, ENST00000447712, ENST00000496629, ENST00000532791, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MYO18A [Title/Abstract] AND FGFR1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) |
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 | FGFR1 | GO:0008284 | positive regulation of cell population proliferation | 8663044 |
Tgene | FGFR1 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044|21885851 |
Tgene | FGFR1 | GO:0010863 | positive regulation of phospholipase C activity | 18480409 |
Tgene | FGFR1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 8622701|18480409 |
Tgene | FGFR1 | GO:0043406 | positive regulation of MAP kinase activity | 8622701|18480409 |
Tgene | FGFR1 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 21885851 |
Tgene | FGFR1 | GO:0046777 | protein autophosphorylation | 8622701 |
Tgene | FGFR1 | GO:2001028 | positive regulation of endothelial cell chemotaxis | 21885851 |
Kinase Fusion gene breakpoints across MYO18A (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 FGFR1 (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 |
ChimerKB4 | . | MYO18A | chr17 | 27420445 | FGFR1 | chr8 | 27420445 |
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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/:/:) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MYO18A | FGFR1 |
FUNCTION: May link Golgi membranes to the cytoskeleton and participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus (PubMed:19837035, PubMed:23345592). Alternatively, in concert with LURAP1 and CDC42BPA/CDC42BPB, has been involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). May be involved in the maintenance of the stromal cell architectures required for cell to cell contact (By similarity). Regulates trafficking, expression, and activation of innate immune receptors on macrophages. Plays a role to suppress inflammatory responsiveness of macrophages via a mechanism that modulates CD14 trafficking (PubMed:25965346). Acts as a receptor of surfactant-associated protein A (SFTPA1/SP-A) and plays an important role in internalization and clearance of SFTPA1-opsonized S.aureus by alveolar macrophages (PubMed:16087679, PubMed:21123169). Strongly enhances natural killer cell cytotoxicity (PubMed:27467939). {ECO:0000250|UniProtKB:Q9JMH9, ECO:0000269|PubMed:16087679, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:19837035, ECO:0000269|PubMed:21123169, ECO:0000269|PubMed:23345592, ECO:0000269|PubMed:25965346, ECO:0000269|PubMed:27467939}. | FUNCTION: May be involved in wound healing pathway. {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. |
- 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 MYO18A_FGFR1 |
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 |
FGFR1 | P11362 | human | IDH1 | O75874 | Y42 | VELDLHsyDLGIENR | Iso_dh |
FGFR1 | P11362 | human | PDP1 | Q9P0J1 | Y94 | SILkANEySFkVPEF | |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y653 | RDIHHIDyykKTTNG | PK_Tyr_Ser-Thr |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y583 | RRPPGLEyCyNPsHN | PK_Tyr_Ser-Thr |
FGFR1 | P11362 | human | AMOTL2 | Q9Y2J4 | Y107 | kGEELPTyEEAKAHS | |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y680 | KLHCIVTyCEyCQEE | |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y683 | CIVTyCEyCQEEKTL | |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y585 | PPGLEyCyNPsHNPE | PK_Tyr_Ser-Thr |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y557 | QCIGPNGyMEPYCSt | zf-FCS |
FGFR1 | P11362 | human | PDK1 | Q15118 | Y136 | AEDAkAIyDFTDTVI | BCDHK_Adom3 |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y502 | CQSCVSEykQVGSHP | zf-FCS |
FGFR1 | P11362 | human | STAT3 | P40763 | Y705 | DPGsAAPyLktKFIC | |
FGFR1 | P11362 | human | LDHA | P00338 | Y83 | kIVSGkDyNVTANsk | Ldh_1_N |
FGFR1 | P11362 | human | PDK1 | Q15118 | Y244 | RRLCDLyyINSPELE | |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y730 | SNCTNELyMMMRDCW | PK_Tyr_Ser-Thr |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y729 | LRCVTCNyCSQLCKk | zf-FCS |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y654 | DIHHIDyykKTTNGR | PK_Tyr_Ser-Thr |
FGFR1 | P11362 | human | ITGB4 | P16144 | Y1564 | LQGYSVEyQLLNGGE | fn3 |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y595 | KRNsLPQyQATMPDG | |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y154 | NRMPVAPyWTSPEKM | |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y766 | ALTSNQEyLDLSMPL | |
FGFR1 | P11362 | human | FGFR1 | P11362 | Y463 | MLAGVSEyELPEDPR | |
FGFR1 | P11362 | human | PDP1 | Q9P0J1 | Y381 | DQLNDNEyTkFIPPN | PP2C |
FGFR1 | P11362 | human | PLCG1 | P19174 | Y783 | EGRNPGFyVEANPMP | |
FGFR1 | P11362 | human | LDHA | P00338 | Y10 | tLkDQLIyNLLkEEQ | |
FGFR1 | P11362 | human | PDHA1 | P08559 | Y301 | MsDPGVsyRtREEIQ | E1_dh |
FGFR1 | P11362 | human | PDK1 | Q15118 | Y243 | ARRLCDLyyINSPEL | |
FGFR1 | P11362 | human | ACAT1 | P24752 | Y407 | HALKQGEyGLASICN | Thiolase_C |
FGFR1 | P11362 | human | ZMYM2 | Q9UBW7 | Y605 | TMPDGkLyNFCNsSC |
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 |
FGFR1 | ID | Description | 0.00e+00 |
FGFR1 | GO:0006085 | acetyl-CoA biosynthetic process | 8.15e-05 |
FGFR1 | GO:1905564 | positive regulation of vascular endothelial cell proliferation | 1.18e-04 |
FGFR1 | GO:0006090 | pyruvate metabolic process | 1.18e-04 |
FGFR1 | GO:0006084 | acetyl-CoA metabolic process | 1.35e-04 |
FGFR1 | GO:0035384 | thioester biosynthetic process | 2.67e-04 |
FGFR1 | GO:0071616 | acyl-CoA biosynthetic process | 2.67e-04 |
FGFR1 | GO:0101023 | vascular endothelial cell proliferation | 2.73e-04 |
FGFR1 | GO:1905562 | regulation of vascular endothelial cell proliferation | 2.73e-04 |
FGFR1 | GO:0033866 | nucleoside bisphosphate biosynthetic process | 2.76e-04 |
FGFR1 | GO:0034030 | ribonucleoside bisphosphate biosynthetic process | 2.76e-04 |
FGFR1 | GO:0034033 | purine nucleoside bisphosphate biosynthetic process | 2.76e-04 |
FGFR1 | GO:0006086 | acetyl-CoA biosynthetic process from pyruvate | 8.66e-04 |
FGFR1 | GO:0006637 | acyl-CoA metabolic process | 9.91e-04 |
FGFR1 | GO:0035383 | thioester metabolic process | 9.91e-04 |
FGFR1 | GO:0001938 | positive regulation of endothelial cell proliferation | 1.43e-03 |
FGFR1 | GO:0033865 | nucleoside bisphosphate metabolic process | 1.70e-03 |
FGFR1 | GO:0033875 | ribonucleoside bisphosphate metabolic process | 1.70e-03 |
FGFR1 | GO:0034032 | purine nucleoside bisphosphate metabolic process | 1.70e-03 |
FGFR1 | GO:0046434 | organophosphate catabolic process | 2.55e-03 |
FGFR1 | GO:0048015 | phosphatidylinositol-mediated signaling | 3.05e-03 |
FGFR1 | GO:0044272 | sulfur compound biosynthetic process | 3.08e-03 |
FGFR1 | GO:0006163 | purine nucleotide metabolic process | 3.52e-03 |
FGFR1 | GO:0001936 | regulation of endothelial cell proliferation | 3.91e-03 |
FGFR1 | GO:0072521 | purine-containing compound metabolic process | 3.91e-03 |
FGFR1 | GO:0006099 | tricarboxylic acid cycle | 3.91e-03 |
FGFR1 | GO:0001667 | ameboidal-type cell migration | 3.91e-03 |
FGFR1 | GO:0001935 | endothelial cell proliferation | 4.69e-03 |
FGFR1 | GO:0009152 | purine ribonucleotide biosynthetic process | 5.28e-03 |
FGFR1 | GO:0050679 | positive regulation of epithelial cell proliferation | 5.46e-03 |
FGFR1 | GO:0044242 | cellular lipid catabolic process | 5.64e-03 |
FGFR1 | GO:0009260 | ribonucleotide biosynthetic process | 5.82e-03 |
FGFR1 | GO:0046390 | ribose phosphate biosynthetic process | 6.17e-03 |
FGFR1 | GO:0006164 | purine nucleotide biosynthetic process | 7.83e-03 |
FGFR1 | GO:0009395 | phospholipid catabolic process | 7.83e-03 |
FGFR1 | GO:0072522 | purine-containing compound biosynthetic process | 8.19e-03 |
FGFR1 | GO:0009165 | nucleotide biosynthetic process | 1.06e-02 |
FGFR1 | GO:1901293 | nucleoside phosphate biosynthetic process | 1.06e-02 |
FGFR1 | GO:0006790 | sulfur compound metabolic process | 1.24e-02 |
FGFR1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 1.35e-02 |
FGFR1 | GO:0016042 | lipid catabolic process | 1.37e-02 |
FGFR1 | GO:0009150 | purine ribonucleotide metabolic process | 1.71e-02 |
FGFR1 | GO:0006096 | glycolytic process | 1.71e-02 |
FGFR1 | GO:0009259 | ribonucleotide metabolic process | 1.92e-02 |
FGFR1 | GO:0019693 | ribose phosphate metabolic process | 1.99e-02 |
FGFR1 | GO:0050678 | regulation of epithelial cell proliferation | 2.15e-02 |
FGFR1 | GO:0010595 | positive regulation of endothelial cell migration | 3.30e-02 |
FGFR1 | GO:0050673 | epithelial cell proliferation | 3.30e-02 |
FGFR1 | GO:0043535 | regulation of blood vessel endothelial cell migration | 4.35e-02 |
FGFR1 | GO:0016052 | carbohydrate catabolic process | 4.80e-02 |
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Related Drugs to MYO18A_FGFR1 |
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 MYO18A-FGFR1 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 MYO18A_FGFR1 |
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 |
Tgene | FGFR1 | C1563720 | Kallmann Syndrome 2 (disorder) | 18 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | FGFR1 | C1845146 | Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate | 6 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | FGFR1 | C0011570 | Mental Depression | 5 | PSYGENET |
Tgene | FGFR1 | C0011581 | Depressive disorder | 5 | CTD_human;PSYGENET |
Tgene | FGFR1 | C0220658 | Pfeiffer Syndrome | 5 | GENOMICS_ENGLAND;UNIPROT |
Tgene | FGFR1 | C0432283 | Osteoglophonic dwarfism | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | FGFR1 | C0041696 | Unipolar Depression | 4 | CTD_human;PSYGENET |
Tgene | FGFR1 | C0406612 | Encephalocraniocutaneous lipomatosis | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | FGFR1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
Tgene | FGFR1 | C0795998 | JACKSON-WEISS SYNDROME | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | FGFR1 | C1269683 | Major Depressive Disorder | 3 | PSYGENET |
Tgene | FGFR1 | C0006142 | Malignant neoplasm of breast | 2 | CGI;CTD_human |
Tgene | FGFR1 | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
Tgene | FGFR1 | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
Tgene | FGFR1 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
Tgene | FGFR1 | C0162809 | Kallmann Syndrome | 2 | CTD_human;ORPHANET |
Tgene | FGFR1 | C0432122 | Interfrontal craniofaciosynostosis | 2 | GENOMICS_ENGLAND;UNIPROT |
Tgene | FGFR1 | C0678222 | Breast Carcinoma | 2 | CGI;CTD_human |
Tgene | FGFR1 | C1257931 | Mammary Neoplasms, Human | 2 | CTD_human |
Tgene | FGFR1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Tgene | FGFR1 | C4704874 | Mammary Carcinoma, Human | 2 | CTD_human |
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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 |