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Kinase Fusion Gene:FGFR1OP_RET |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: FGFR1OP_RET | KinaseFusionDB ID: KFG2300 | FusionGDB2.0 ID: KFG2300 | Hgene | Tgene | Gene symbol | FGFR1OP | RET | Gene ID | 11116 | 5979 | |
Gene name | centrosomal protein 43 | ret proto-oncogene | ||||||||||
Synonyms | FGFR1OP|FOP | CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1 | ||||||||||
Cytomap | 6q27 | 10q11.21 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | centrosomal protein 43FGFR1 oncogene partnerfibroblast growth factor receptor 1 oncogene partner | proto-oncogene tyrosine-protein kinase receptor RetRET receptor tyrosine kinasecadherin family member 12cadherin-related family member 16proto-oncogene c-Retrearranged during transfectionret proto-oncogene (multiple endocrine neoplasia and medullary | ||||||||||
Modification date | 20240305 | 20240416 | ||||||||||
UniProtAcc | Q9NVK5 | P07949 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000349556, ENST00000366847, ENST00000476078, | ENST00000340058, ENST00000355710, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGFR1OP [Title/Abstract] AND RET [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 |
Hgene | FGFR1OP | GO:0006469 | negative regulation of protein kinase activity | 17888034 |
Hgene | FGFR1OP | GO:0008284 | positive regulation of cell population proliferation | 17888034 |
Hgene | FGFR1OP | GO:0030307 | positive regulation of cell growth | 17888034 |
Hgene | FGFR1OP | GO:0030335 | positive regulation of cell migration | 17888034 |
Tgene | RET | GO:0030155 | regulation of cell adhesion | 21357690 |
Tgene | RET | GO:0030335 | positive regulation of cell migration | 20702524 |
Tgene | RET | GO:0033619 | membrane protein proteolysis | 21357690 |
Tgene | RET | GO:0033630 | positive regulation of cell adhesion mediated by integrin | 20702524 |
Tgene | RET | GO:0035860 | glial cell-derived neurotrophic factor receptor signaling pathway | 24560924|25242331|28953886|31535977 |
Tgene | RET | GO:0043410 | positive regulation of MAPK cascade | 28846099 |
Kinase Fusion gene breakpoints across FGFR1OP (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 RET (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 | . | FGFR1OP | chr6 | 167446090 | RET | chr10 | 167446090 |
ChimerKB4 | . | FGFR1OP | chr6 | 167447362 | RET | chr10 | 167447362 |
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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 |
FGFR1OP | RET |
FUNCTION: May be involved in wound healing pathway. {ECO:0000250}. | FUNCTION: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration. Mediates, through interaction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which induces inhibition of food-intake. Activates MAPK- and AKT-signaling pathways (PubMed:28846097, PubMed:28953886, PubMed:28846099). Isoform 1 in complex with GFRAL induces higher activation of MAPK-signaling pathway than isoform 2 in complex with GFRAL (PubMed:28846099). {ECO:0000269|PubMed:20064382, ECO:0000269|PubMed:20616503, ECO:0000269|PubMed:20702524, ECO:0000269|PubMed:21357690, ECO:0000269|PubMed:21454698, ECO:0000269|PubMed:28846097, ECO:0000269|PubMed:28846099, ECO:0000269|PubMed:28953886}. |
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 FGFR1OP_RET |
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 |
RET | Q15300 | human | STAT3 | P40763 | Y705 | DPGsAAPyLktKFIC | |
RET | Q15300 | human | RET | Q15300 | Y586 | TWIENKLyGRISHAF | |
RET | P07949 | human | RET | P07949 | Y981 | DNCSEEMyRLMLQCW | PK_Tyr_Ser-Thr |
RET | P07949 | human | PTK2 | Q05397 | Y925 | DRsNDkVyENVtGLV | Focal_AT |
RET | P07949 | human | RET | P07949 | Y1090 | TNTGFPRyPNDSVyA | |
RET | P07949 | human | ATF4 | P18848 | T107 | LGIDDLEtMPDDLLt | |
RET | P07949 | human | PTK2 | Q05397 | Y577 | yMEDstyyKAsKGKL | PK_Tyr_Ser-Thr |
RET | P07949 | human | ATF4 | P18848 | T115 | MPDDLLttLDDtCDL | |
RET | P07949 | human | MAPK9 | P45984 | Y185 | tNFMMtPyVVtRYYR | Pkinase |
RET | P07949 | human | RET | P07949 | Y1096 | RyPNDSVyANWMLSP | |
RET | P07949 | human | MAPK8 | P45983 | Y185 | tsFMMtPyVVtRYYR | Pkinase |
RET | P07949 | human | PIK3R1 | P27986 | Y203 | PVIPAAVySEMIsLA | RhoGAP |
RET | P07949 | human | RET | P07949 | Y826 | SRKVGPGyLGSGGSR | PK_Tyr_Ser-Thr |
RET | P07949 | human | RET | P07949 | Y1015 | MMVKRRDyLDLAAST | |
RET | P07949 | human | PDPK1 | O15530 | Y9 | ARTTSQLyDAVPIQS | |
RET | P07949 | human | ATF4 | P18848 | T114 | tMPDDLLttLDDtCD | |
RET | P07949 | human | DOK1 | Q99704 | Y398 | ARVkEEGyELPyNPA | |
RET | P07949 | human | RET | P07949 | Y809 | LIVEyAKyGSLRGFL | PK_Tyr_Ser-Thr |
RET | P07949 | human | PTK2 | Q05397 | Y861 | PIGNQHIyQPVGKPD | |
RET | P07949 | human | ATF4 | P18848 | T119 | LLttLDDtCDLFAPL | |
RET | P07949 | human | RET | P07949 | Y1029 | TPSDSLIyDDGLSEE | |
RET | P07949 | human | RET | P07949 | Y687 | AQAFPVsysSSGARR | |
RET | P07949 | human | PLCG1 | P19174 | Y783 | EGRNPGFyVEANPMP | |
RET | P07949 | human | MAPK3 | P27361 | T202 | HDHtGFLtEyVAtRW | Pkinase |
RET | P07949 | human | AFAP1L2 | Q8N4X5 | Y54 | SSSsDEEyIyMNKVt | |
RET | P07949 | human | AKT1 | P31749 | Y315 | tFCGtPEyLAPEVLE | Pkinase |
RET | P07949 | human | RET | P07949 | Y806 | PLLLIVEyAKyGSLR | PK_Tyr_Ser-Thr |
RET | P07949 | human | RET | P07949 | Y900 | FGLSRDVyEEDsyVK | PK_Tyr_Ser-Thr |
RET | P07949 | human | MAPK1 | P28482 | Y187 | HtGFLtEyVAtRWyr | Pkinase |
RET | P07949 | human | RET | P07949 | Y905 | DVyEEDsyVKRsQGR | PK_Tyr_Ser-Thr |
RET | P07949 | human | PTK2 | Q05397 | Y576 | RyMEDstyyKAsKGK | PK_Tyr_Ser-Thr |
RET | P07949 | human | MAPK3 | P27361 | Y204 | HtGFLtEyVAtRWyr | Pkinase |
RET | P07949 | human | RET | P07949 | Y1062 | TWIENkLyGMsDPNW | |
RET | P07949 | human | MAPK14 | Q16539 | Y182 | tDDEMtGyVAtRWYR | Pkinase |
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 |
RET | ID | Description | 0.00e+00 |
RET | GO:0071276 | cellular response to cadmium ion | 8.65e-08 |
RET | GO:0070849 | response to epidermal growth factor | 1.02e-07 |
RET | GO:0038127 | ERBB signaling pathway | 1.02e-07 |
RET | GO:0043434 | response to peptide hormone | 1.02e-07 |
RET | GO:0048009 | insulin-like growth factor receptor signaling pathway | 1.02e-07 |
RET | GO:0046686 | response to cadmium ion | 1.64e-07 |
RET | GO:0018105 | peptidyl-serine phosphorylation | 2.35e-07 |
RET | GO:0018209 | peptidyl-serine modification | 2.58e-07 |
RET | GO:0071375 | cellular response to peptide hormone stimulus | 2.58e-07 |
RET | GO:0071248 | cellular response to metal ion | 7.74e-07 |
RET | GO:1901653 | cellular response to peptide | 7.74e-07 |
RET | GO:0071241 | cellular response to inorganic substance | 1.52e-06 |
RET | GO:0007173 | epidermal growth factor receptor signaling pathway | 1.57e-06 |
RET | GO:0060416 | response to growth hormone | 1.79e-06 |
RET | GO:0034599 | cellular response to oxidative stress | 2.31e-06 |
RET | GO:0008286 | insulin receptor signaling pathway | 2.80e-06 |
RET | GO:0032868 | response to insulin | 2.80e-06 |
RET | GO:0002764 | immune response-regulating signaling pathway | 3.49e-06 |
RET | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 3.92e-06 |
RET | GO:0034198 | cellular response to amino acid starvation | 4.22e-06 |
RET | GO:1990928 | response to amino acid starvation | 5.08e-06 |
RET | GO:0009411 | response to UV | 5.10e-06 |
RET | GO:0038093 | Fc receptor signaling pathway | 5.10e-06 |
RET | GO:0062197 | cellular response to chemical stress | 5.10e-06 |
RET | GO:0034614 | cellular response to reactive oxygen species | 5.10e-06 |
RET | GO:0031663 | lipopolysaccharide-mediated signaling pathway | 5.49e-06 |
RET | GO:0061517 | macrophage proliferation | 5.72e-06 |
RET | GO:0002768 | immune response-regulating cell surface receptor signaling pathway | 7.56e-06 |
RET | GO:0010038 | response to metal ion | 9.07e-06 |
RET | GO:0050900 | leukocyte migration | 1.56e-05 |
RET | GO:0006979 | response to oxidative stress | 1.59e-05 |
RET | GO:0010759 | positive regulation of macrophage chemotaxis | 1.59e-05 |
RET | GO:0000302 | response to reactive oxygen species | 1.59e-05 |
RET | GO:0032869 | cellular response to insulin stimulus | 1.59e-05 |
RET | GO:0071674 | mononuclear cell migration | 1.59e-05 |
RET | GO:0051347 | positive regulation of transferase activity | 1.69e-05 |
RET | GO:0034764 | positive regulation of transmembrane transport | 1.90e-05 |
RET | GO:0071222 | cellular response to lipopolysaccharide | 2.26e-05 |
RET | GO:0001503 | ossification | 2.28e-05 |
RET | GO:0002685 | regulation of leukocyte migration | 2.28e-05 |
RET | GO:0051403 | stress-activated MAPK cascade | 2.28e-05 |
RET | GO:0031098 | stress-activated protein kinase signaling cascade | 2.63e-05 |
RET | GO:0071219 | cellular response to molecule of bacterial origin | 2.63e-05 |
RET | GO:0038095 | Fc-epsilon receptor signaling pathway | 2.75e-05 |
RET | GO:0060396 | growth hormone receptor signaling pathway | 2.75e-05 |
RET | GO:0018107 | peptidyl-threonine phosphorylation | 2.76e-05 |
RET | GO:0048863 | stem cell differentiation | 2.76e-05 |
RET | GO:0002757 | immune response-activating signaling pathway | 2.76e-05 |
RET | GO:0071378 | cellular response to growth hormone stimulus | 2.79e-05 |
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Related Drugs to FGFR1OP_RET |
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 FGFR1OP-RET 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 FGFR1OP_RET |
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 | RET | C1833921 | Familial medullary thyroid carcinoma | 23 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | RET | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 16 | GENOMICS_ENGLAND;UNIPROT |
Tgene | RET | C0025268 | Multiple Endocrine Neoplasia Type 2a | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | RET | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 12 | CLINGEN |
Tgene | RET | C0025269 | Multiple Endocrine Neoplasia Type 2b | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | RET | C0238463 | Papillary thyroid carcinoma | 3 | CTD_human;ORPHANET |
Tgene | RET | C1275808 | Congenital central hypoventilation | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | RET | C1859049 | CCHS WITH HIRSCHSPRUNG DISEASE | 3 | CTD_human;ORPHANET |
Tgene | RET | C0009402 | Colorectal Carcinoma | 2 | CTD_human;UNIPROT |
Tgene | RET | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
Tgene | RET | C0019569 | Hirschsprung Disease | 2 | CTD_human |
Tgene | RET | C0027662 | Multiple Endocrine Neoplasia | 2 | CTD_human;GENOMICS_ENGLAND |
Tgene | RET | C0085758 | Aganglionosis, Colonic | 2 | CTD_human |
Tgene | RET | C0266294 | Unilateral agenesis of kidney | 2 | ORPHANET |
Tgene | RET | C1257840 | Aganglionosis, Rectosigmoid Colon | 2 | CTD_human |
Tgene | RET | C3661523 | Congenital Intestinal Aganglionosis | 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 |