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Kinase Fusion Gene:FGFR1_SLC20A2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: FGFR1_SLC20A2 | KinaseFusionDB ID: KFG2312 | FusionGDB2.0 ID: KFG2312 | Hgene | Tgene | Gene symbol | FGFR1 | SLC20A2 | Gene ID | 2260 | 6575 | |
Gene name | fibroblast growth factor receptor 1 | solute carrier family 20 member 2 | ||||||||||
Synonyms | BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1 | GLVR-2|GLVR2|IBGC1|IBGC2|IBGC3|MLVAR|PIT-2|PIT2|RAM1|Ram-1 | ||||||||||
Cytomap | 8p11.23 | 8p11.21 | ||||||||||
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 | sodium-dependent phosphate transporter 2epididymis secretory sperm binding proteingibbon ape leukemia virus receptor 2murine leukemia virus, amphotropic, receptor formurine leukemia virus, amphotropic; receptorsolute carrier family 20 (phosphate tran | ||||||||||
Modification date | 20240416 | 20240411 | ||||||||||
UniProtAcc | Q9NVK5 | Q08357 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000335922, ENST00000532791, ENST00000326324, ENST00000341462, ENST00000356207, ENST00000397091, ENST00000397103, ENST00000397108, ENST00000397113, ENST00000425967, ENST00000447712, ENST00000496629, | ENST00000342228, ENST00000520179, ENST00000520262, ENST00000523340, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGFR1 [Title/Abstract] AND SLC20A2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FGFR1(38277057)-SLC20A2(42330172), # samples:1 |
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 |
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 SLC20A2 (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 |
ChimerDB4 | TCGA-69-8255-01A | FGFR1 | chr8 | 38277057 | SLC20A2 | chr8 | 42330172 |
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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/:38277057/:42330172) - 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 | SLC20A2 |
FUNCTION: May be involved in wound healing pathway. {ECO:0000250}. | FUNCTION: Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:12205090, PubMed:15955065, PubMed:16790504, PubMed:17494632, PubMed:22327515, PubMed:28722801, PubMed:30704756). Plays a critical role in the determination of bone quality and strength by providing phosphate for bone mineralization (By similarity). Required to maintain normal cerebrospinal fluid phosphate levels (By similarity). Mediates phosphate-induced calcification of vascular smooth muscle cells (VCMCs) and can functionally compensate for loss of SLC20A1 in VCMCs (By similarity). {ECO:0000250|UniProtKB:Q80UP8, ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:16790504, ECO:0000269|PubMed:17494632, ECO:0000269|PubMed:22327515, ECO:0000269|PubMed:28722801, ECO:0000269|PubMed:30704756}.; FUNCTION: (Microbial infection) Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants. {ECO:0000269|PubMed:11435563, ECO:0000269|PubMed:12205090, ECO:0000269|PubMed:15955065, ECO:0000269|PubMed:8302848}. |
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_SLC20A2 |
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_SLC20A2 |
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-SLC20A2 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_SLC20A2 |
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 |