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Kinase Fusion Gene:FGFR1_UPF1 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: FGFR1_UPF1 | KinaseFusionDB ID: KFG2317 | FusionGDB2.0 ID: KFG2317 | Hgene | Tgene | Gene symbol | FGFR1 | UPF1 | Gene ID | 2260 | 5976 | |
Gene name | fibroblast growth factor receptor 1 | UPF1 RNA helicase and ATPase | ||||||||||
Synonyms | BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1 | HUPF1|NORF1|RENT1|UTF|pNORF1|smg-2 | ||||||||||
Cytomap | 8p11.23 | 19p13.11 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | 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 | regulator of nonsense transcripts 1ATP-dependent helicase RENT1UPF1 regulator of nonsense transcripts homologdelta helicasenonsense mRNA reducing factor 1smg-2 homolog, nonsense mediated mRNA decay factorup-frameshift mutation 1 homologup-frameshif | ||||||||||
Modification date | 20240416 | 20240407 | ||||||||||
UniProtAcc | Q9NVK5 | Q92900 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000425967, ENST00000397091, ENST00000447712, ENST00000341462, ENST00000532791, ENST00000397113, ENST00000356207, ENST00000335922, ENST00000326324, ENST00000397103, ENST00000397108, ENST00000496629, | ENST00000262803, ENST00000599848, ENST00000600310, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGFR1 [Title/Abstract] AND UPF1 [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 | FGFR1 | GO:0008284 | positive regulation of cell population proliferation | 8663044 |
Hgene | FGFR1 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044|21885851 |
Hgene | FGFR1 | GO:0010863 | positive regulation of phospholipase C activity | 18480409 |
Hgene | FGFR1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 8622701|18480409 |
Hgene | FGFR1 | GO:0043406 | positive regulation of MAP kinase activity | 8622701|18480409 |
Hgene | FGFR1 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 21885851 |
Hgene | FGFR1 | GO:0046777 | protein autophosphorylation | 8622701 |
Hgene | FGFR1 | GO:2001028 | positive regulation of endothelial cell chemotaxis | 21885851 |
Tgene | UPF1 | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 17468741 |
Tgene | UPF1 | GO:0006281 | DNA repair | 16488880 |
Tgene | UPF1 | GO:0032201 | telomere maintenance via semi-conservative replication | 21829167 |
Tgene | UPF1 | GO:0032508 | DNA duplex unwinding | 30218034 |
Tgene | UPF1 | GO:0061014 | positive regulation of mRNA catabolic process | 24726324 |
Tgene | UPF1 | GO:0061158 | 3'-UTR-mediated mRNA destabilization | 24726324 |
Kinase Fusion gene breakpoints across FGFR1 (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 UPF1 (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 |
CCLE | TUHR4TKB | FGFR1 | chr8 | 38285556 | UPF1 | chr19 | 18967751 |
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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 |
FGFR1 | UPF1 |
FUNCTION: May be involved in wound healing pathway. {ECO:0000250}. | FUNCTION: RNA-dependent helicase required for nonsense-mediated decay (NMD) of aberrant mRNAs containing premature stop codons and modulates the expression level of normal mRNAs (PubMed:11163187, PubMed:16086026, PubMed:18172165, PubMed:21145460, PubMed:21419344, PubMed:24726324). Is recruited to mRNAs upon translation termination and undergoes a cycle of phosphorylation and dephosphorylation; its phosphorylation appears to be a key step in NMD (PubMed:11544179, PubMed:25220460). Recruited by release factors to stalled ribosomes together with the SMG1C protein kinase complex to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex (PubMed:19417104). In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) (located 50-55 or more nucleotides downstream from the termination codon) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD (PubMed:21419344). Phosphorylated UPF1 is recognized by EST1B/SMG5, SMG6 and SMG7 which are thought to provide a link to the mRNA degradation machinery involving exonucleolytic and endonucleolytic pathways, and to serve as adapters to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation and allowing the recycling of NMD factors (PubMed:12554878). UPF1 can also activate NMD without UPF2 or UPF3, and in the absence of the NMD-enhancing downstream EJC indicative for alternative NMD pathways (PubMed:18447585). Plays a role in replication-dependent histone mRNA degradation at the end of phase S; the function is independent of UPF2 (PubMed:16086026, PubMed:18172165). For the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed (PubMed:18447585, PubMed:25220460). The ATPase activity of UPF1 is required for disassembly of mRNPs undergoing NMD (PubMed:21145460). Together with UPF2 and dependent on TDRD6, mediates the degradation of mRNA harboring long 3'UTR by inducing the NMD machinery (By similarity). Also capable of unwinding double-stranded DNA and translocating on single-stranded DNA (PubMed:30218034). {ECO:0000250|UniProtKB:Q9EPU0, ECO:0000269|PubMed:11163187, ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:12554878, ECO:0000269|PubMed:16086026, ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:18447585, ECO:0000269|PubMed:19417104, ECO:0000269|PubMed:21145460, ECO:0000269|PubMed:21419344, ECO:0000269|PubMed:24726324, ECO:0000269|PubMed:25220460, ECO:0000269|PubMed:30218034}. |
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 FGFR1_UPF1 |
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 FGFR1_UPF1 |
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 FGFR1-UPF1 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 FGFR1_UPF1 |
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 |
Hgene | FGFR1 | C1563720 | Kallmann Syndrome 2 (disorder) | 18 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | FGFR1 | C1845146 | Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate | 6 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | FGFR1 | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | FGFR1 | C0011581 | Depressive disorder | 5 | CTD_human;PSYGENET |
Hgene | FGFR1 | C0220658 | Pfeiffer Syndrome | 5 | GENOMICS_ENGLAND;UNIPROT |
Hgene | FGFR1 | C0432283 | Osteoglophonic dwarfism | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | FGFR1 | C0041696 | Unipolar Depression | 4 | CTD_human;PSYGENET |
Hgene | FGFR1 | C0406612 | Encephalocraniocutaneous lipomatosis | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | FGFR1 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
Hgene | FGFR1 | C0795998 | JACKSON-WEISS SYNDROME | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | FGFR1 | C1269683 | Major Depressive Disorder | 3 | PSYGENET |
Hgene | FGFR1 | C0006142 | Malignant neoplasm of breast | 2 | CGI;CTD_human |
Hgene | FGFR1 | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
Hgene | FGFR1 | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
Hgene | FGFR1 | C0027022 | Myeloproliferative disease | 2 | CTD_human |
Hgene | FGFR1 | C0162809 | Kallmann Syndrome | 2 | CTD_human;ORPHANET |
Hgene | FGFR1 | C0432122 | Interfrontal craniofaciosynostosis | 2 | GENOMICS_ENGLAND;UNIPROT |
Hgene | FGFR1 | C0678222 | Breast Carcinoma | 2 | CGI;CTD_human |
Hgene | FGFR1 | C1257931 | Mammary Neoplasms, Human | 2 | CTD_human |
Hgene | FGFR1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Hgene | 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 |