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Kinase Fusion Gene:FGFR2_OPTN |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: FGFR2_OPTN | KinaseFusionDB ID: KFG2345 | FusionGDB2.0 ID: KFG2345 | Hgene | Tgene | Gene symbol | FGFR2 | OPTN | Gene ID | 2263 | 10133 | |
| Gene name | fibroblast growth factor receptor 2 | optineurin | ||||||||||
| Synonyms | BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25 | ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP | ||||||||||
| Cytomap | 10q26.13 | 10p13 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | fibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14 | optineurinE3-14.7K-interacting proteinFIP-2HIP-7Huntingtin interacting protein Lhuntingtin yeast partner Lhuntingtin-interacting protein 7huntingtin-interacting protein Lnemo-related proteinoptic neuropathy-inducing proteintranscription factor I | ||||||||||
| Modification date | 20240416 | 20240310 | ||||||||||
| UniProtAcc | P21802 | Q96CV9 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000369061, ENST00000357555, ENST00000358487, ENST00000356226, ENST00000369060, ENST00000369059, ENST00000346997, ENST00000457416, ENST00000351936, ENST00000360144, ENST00000369056, ENST00000490349, ENST00000359354, ENST00000478859, | ENST00000263036, ENST00000378764, ENST00000482140, ENST00000378757, ENST00000378752, ENST00000378748, ENST00000378747, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGFR2 [Title/Abstract] AND OPTN [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 | FGFR2 | GO:0008284 | positive regulation of cell population proliferation | 8663044 |
| Hgene | FGFR2 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 8663044|15629145 |
| Hgene | FGFR2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 15629145|16844695 |
| Hgene | FGFR2 | GO:0046777 | protein autophosphorylation | 15629145 |
| Tgene | OPTN | GO:0010508 | positive regulation of autophagy | 21617041 |
| Tgene | OPTN | GO:0090161 | Golgi ribbon formation | 15837803 |
| Kinase Fusion gene breakpoints across FGFR2 (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 OPTN (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 | ICC13-7 | FGFR2 | chr10 | 123243212 | OPTN | chr10 | 13158267 |
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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) |
| ENST00000369061 | ENST00000263036 | FGFR2 | chr10 | 123243212 | OPTN | chr10 | 13158267 | 3354 | 1082 |
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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 >ENST00000369061_ENST00000263036_FGFR2_chr10_123243212_OPTN_chr10_13158267_length(amino acids)=1082 MKALRVVHARRGSVQMGLTSTWRYGRGPGIGTVTMVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGE SLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSE NSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENE YGSINHTYHLDVVAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSM NSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDL SDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLA SQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIP VEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEGEAEGSVKEIKHSPGPTRTVSTGTALSKYR SRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQ VTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNK LLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKI HEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDC -------------------------------------------------------------- |
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/chr10:/chr10:) - 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 |
| FGFR2 | OPTN |
| FUNCTION: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. {ECO:0000269|PubMed:12529371, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:15629145, ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19103595, ECO:0000269|PubMed:19387476, ECO:0000269|PubMed:19410646, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:8663044}. | FUNCTION: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8 (PubMed:27534431). Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation (PubMed:27534431). Plays a role in the activation of innate immune response during viral infection. Mechanistically, recruits TBK1 at the Golgi apparatus, promoting its trans-phosphorylation after RLR or TLR3 stimulation (PubMed:27538435). In turn, activated TBK1 phosphorylates its downstream partner IRF3 to produce IFN-beta/IFNB1. Plays a neuroprotective role in the eye and optic nerve. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). Mediates the interaction of Rab8 with the probable GTPase-activating protein TBC1D17 during Rab8-mediated endocytic trafficking, such as that of transferrin receptor (TFRC/TfR); regulates Rab8 recruitment to tubules emanating from the endocytic recycling compartment (PubMed:22854040). Autophagy receptor that interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family; targets ubiquitin-coated bacteria (xenophagy), such as cytoplasmic Salmonella enterica, and appears to function in the same pathway as SQSTM1 and CALCOCO2/NDP52. {ECO:0000269|PubMed:11834836, ECO:0000269|PubMed:15837803, ECO:0000269|PubMed:20085643, ECO:0000269|PubMed:20174559, ECO:0000269|PubMed:21617041, ECO:0000269|PubMed:22854040, ECO:0000269|PubMed:27534431, ECO:0000269|PubMed:27538435}.; FUNCTION: (Microbial infection) May constitute a cellular target for various viruses, such as adenovirus E3 14.7 or Bluetongue virus, to inhibit innate immune response (PubMed:9488477, PubMed:27538435). During RNA virus infection, such as that of Sendai virus, negatively regulates the induction of IFNB1 (PubMed:20174559). {ECO:0000269|PubMed:20174559, ECO:0000269|PubMed:27538435, ECO:0000269|PubMed:9488477}. |
| 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 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 14 | 15 | 25_125 | 6551 | 710 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 15 | 16 | 25_125 | 6501 | 705 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 15 | 16 | 25_125 | 6511 | 706 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 25_125 | 6781 | 708 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 25_125 | 6791 | 681 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 25_125 | 7651 | 820 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 25_125 | 7681 | 770 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 25_125 | 7651 | 786 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 25_125 | 7671 | 822 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 25_125 | 7681 | 823 | Domain | Note=Ig-like C2-type 1 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 14 | 15 | 154_247 | 6551 | 710 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 15 | 16 | 154_247 | 6501 | 705 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 15 | 16 | 154_247 | 6511 | 706 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 154_247 | 6781 | 708 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 154_247 | 6791 | 681 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 154_247 | 7651 | 820 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 154_247 | 7681 | 770 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 154_247 | 7651 | 786 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 154_247 | 7671 | 822 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 154_247 | 7681 | 823 | Domain | Note=Ig-like C2-type 2 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 14 | 15 | 256_358 | 6551 | 710 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 15 | 16 | 256_358 | 6501 | 705 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 15 | 16 | 256_358 | 6511 | 706 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 256_358 | 6781 | 708 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 256_358 | 6791 | 681 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 256_358 | 7651 | 820 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 256_358 | 7681 | 770 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 256_358 | 7651 | 786 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 256_358 | 7671 | 822 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 256_358 | 7681 | 823 | Domain | Note=Ig-like C2-type 3 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 16 | 17 | 481_770 | 7681 | 770 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 481_770 | 7671 | 822 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Hgene | FGFR2 | 123243212 | OPTN | 13158267 | ENST00000369061 | 17 | 18 | 481_770 | 7681 | 823 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| - 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 Fusion Protein Structures |
| CIF files of the predicted kinase fusion proteins * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| Kinase Fusion protein CIF link (fusion AA seq ID in KinaseFusionDB) | Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | AA seq | Len(AA seq) |
| PDB file >>>115_FGFR2_OPTN | ENST00000369061 | ENST00000263036 | FGFR2 | chr10 | 123243212 | OPTN | chr10 | 13158267 | MKALRVVHARRGSVQMGLTSTWRYGRGPGIGTVTMVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGE SLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSE NSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENE YGSINHTYHLDVVAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSM NSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDL SDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLA SQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIP VEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEGEAEGSVKEIKHSPGPTRTVSTGTALSKYR SRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQ VTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNK LLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKI HEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDC | 1082 |
| 3D view using mol* of 115_FGFR2_OPTN | ||||||||||
| PDB file >>>HKFP_166_FGFR2_OPTN | ENST00000369061 | ENST00000263036 | FGFR2 | chr10 | 123243212 | OPTN | chr10 | 13158267 | MKALRVVHARRGSVQMGLTSTWRYGRGPGIGTVTMVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGE SLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSE NSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENE YGSINHTYHLDVVAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSM NSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDL SDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLA SQKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIP VEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEGEAEGSVKEIKHSPGPTRTVSTGTALSKYR SRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQ VTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNK LLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKI HEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDC | 1082_FGFR2_OPTN |
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Comparison of Fusion Protein Isoforms |
| Superimpose the 3D Structures Among All Fusion Protein Isoforms * Download the pdb file and open it from the molstar online viewer. |
| Comparison of the Secondary Structures of Fusion Protein Isoforms |
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Comparison of Fusion Protein Sequences/Structures with Known Sequences/Structures from PDB |
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pLDDT score distribution |
| pLDDT score distribution of the predicted fusion protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. * The blue color at the bottom marks the best active site residues. |
| 115_FGFR2_OPTN.png |
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| 115_FGFR2_OPTN.png |
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Potential Active Site Information |
| The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite. |
| Kinase Fusion AA seq ID in KinaseFusionDB | Site score | Size | Dscore | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
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Ramachandran Plot of Kinase Fusion Protein Structure |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide. |
| 115_FGFR2_OPTN_ramachandran.png |
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Virtual Screening Results |
| Distribution of the average docking score across all approved kinase inhibitors. Distribution of the number of occurrence across all approved kinase inhibitors. |
| 5'-kinase fusion protein case |
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| 3'-kinase fusion protein case |
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| Drug information from DrugBank of the top 20 interacting small molecules. * The detailed information of individual kinase inhibitors are available in the download page. |
| Fusion gene name info | Drug | Docking score | Glide g score | Glide energy |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Tepotinib | -7.01463 | -7.0157300000000005 | -55.7414 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Lapatinib | -6.814080000000001 | -6.902880000000001 | -56.7124 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Selpercatinib | -6.75053 | -6.78103 | -51.5559 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Lapatinib | -6.60113 | -6.68993 | -50.8542 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Selpercatinib | -6.48723 | -6.51773 | -49.7291 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Selpercatinib | -6.48723 | -6.51773 | -49.7291 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Neratinib | -6.41729 | -6.599589999999999 | -48.7117 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Neratinib | -6.41729 | -6.599589999999999 | -48.7117 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Sunitinib | -6.39349 | -6.39769 | -41.2195 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Neratinib | -6.321280000000001 | -6.50718 | -47.8378 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Crizotinib | -6.27719 | -6.77309 | -44.8696 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Crizotinib | -6.27719 | -6.77309 | -44.8696 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Cobimetinib | -6.22352 | -6.226319999999999 | -33.0523 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Capmatinib | -6.14872 | -6.154319999999999 | -34.0422 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Axitinib | -6.089119999999999 | -6.09232 | -38.0932 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Entrectinib | -6.0356 | -6.1003 | -43.5242 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Entrectinib | -6.0356 | -6.1003 | -43.5242 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Avapritinib | -6.0323 | -6.3636 | -48.5855 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Avapritinib | -6.0323 | -6.3636 | -48.5855 |
| 115_FGFR2_OPTN-DOCK_HTVS_1-001 | Avapritinib | -6.0323 | -6.3636 | -48.5855 |
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Kinase-Substrate Information of FGFR2_OPTN |
| 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 |
| FGFR2 | P21802 | human | FGFR2 | P21802 | Y769 | TLTTNEEyLDLSQPL | |
| FGFR2 | P21802 | human | CTNNB1 | P35222 | Y142 | AVVNLINyQDDAELA | |
| FGFR2 | P21802 | human | PTEN | P60484 | Y240 | RREDKFMyFEFPQPL | PTEN_C2 |
| FGFR2 | P21802 | human | GLO1 | Q04760 | Y136 | GIAVPDVysACkRFE | Glyoxalase |
| FGFR2 | P21802 | human | TFRC | P02786 | Y20 | FGGEPLsytRFsLAR | |
| FGFR2 | P21802 | human | GRB2 | P62993 | Y160 | QVPQQPtyVQALFDF |
| 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 |
| FGFR2 | ID | Description | 0.00e+00 |
| FGFR2 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 7.81e-04 |
| FGFR2 | GO:0030316 | osteoclast differentiation | 7.81e-04 |
| FGFR2 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 7.81e-04 |
| FGFR2 | GO:0060742 | epithelial cell differentiation involved in prostate gland development | 7.81e-04 |
| FGFR2 | GO:0021761 | limbic system development | 7.81e-04 |
| FGFR2 | GO:0071774 | response to fibroblast growth factor | 7.81e-04 |
| FGFR2 | GO:0001704 | formation of primary germ layer | 7.81e-04 |
| FGFR2 | GO:0060670 | branching involved in labyrinthine layer morphogenesis | 7.81e-04 |
| FGFR2 | GO:0060572 | morphogenesis of an epithelial bud | 9.34e-04 |
| FGFR2 | GO:0097091 | synaptic vesicle clustering | 9.61e-04 |
| FGFR2 | GO:0048660 | regulation of smooth muscle cell proliferation | 1.18e-03 |
| FGFR2 | GO:0048659 | smooth muscle cell proliferation | 1.18e-03 |
| FGFR2 | GO:0001837 | epithelial to mesenchymal transition | 1.18e-03 |
| FGFR2 | GO:0061138 | morphogenesis of a branching epithelium | 1.23e-03 |
| FGFR2 | GO:0060713 | labyrinthine layer morphogenesis | 1.23e-03 |
| FGFR2 | GO:0007369 | gastrulation | 1.26e-03 |
| FGFR2 | GO:0060571 | morphogenesis of an epithelial fold | 1.26e-03 |
| FGFR2 | GO:0001763 | morphogenesis of a branching structure | 1.26e-03 |
| FGFR2 | GO:0002053 | positive regulation of mesenchymal cell proliferation | 1.26e-03 |
| FGFR2 | GO:0060669 | embryonic placenta morphogenesis | 1.40e-03 |
| FGFR2 | GO:0060441 | epithelial tube branching involved in lung morphogenesis | 1.61e-03 |
| FGFR2 | GO:0002573 | myeloid leukocyte differentiation | 1.61e-03 |
| FGFR2 | GO:0051091 | positive regulation of DNA-binding transcription factor activity | 1.62e-03 |
| FGFR2 | GO:0010464 | regulation of mesenchymal cell proliferation | 1.62e-03 |
| FGFR2 | GO:0033002 | muscle cell proliferation | 1.62e-03 |
| FGFR2 | GO:0031069 | hair follicle morphogenesis | 1.62e-03 |
| FGFR2 | GO:0048762 | mesenchymal cell differentiation | 1.80e-03 |
| FGFR2 | GO:0010092 | specification of animal organ identity | 1.80e-03 |
| FGFR2 | GO:0048730 | epidermis morphogenesis | 1.83e-03 |
| FGFR2 | GO:0010463 | mesenchymal cell proliferation | 2.43e-03 |
| FGFR2 | GO:0060428 | lung epithelium development | 2.43e-03 |
| FGFR2 | GO:0060711 | labyrinthine layer development | 2.58e-03 |
| FGFR2 | GO:0060070 | canonical Wnt signaling pathway | 2.59e-03 |
| FGFR2 | GO:0035987 | endodermal cell differentiation | 2.62e-03 |
| FGFR2 | GO:0048546 | digestive tract morphogenesis | 2.62e-03 |
| FGFR2 | GO:0060485 | mesenchyme development | 2.62e-03 |
| FGFR2 | GO:0030850 | prostate gland development | 2.64e-03 |
| FGFR2 | GO:0060688 | regulation of morphogenesis of a branching structure | 2.78e-03 |
| FGFR2 | GO:0060425 | lung morphogenesis | 2.85e-03 |
| FGFR2 | GO:0097479 | synaptic vesicle localization | 2.85e-03 |
| FGFR2 | GO:0001706 | endoderm formation | 3.21e-03 |
| FGFR2 | GO:0001701 | in utero embryonic development | 3.84e-03 |
| FGFR2 | GO:0045453 | bone resorption | 3.84e-03 |
| FGFR2 | GO:0001655 | urogenital system development | 3.84e-03 |
| FGFR2 | GO:0048645 | animal organ formation | 3.84e-03 |
| FGFR2 | GO:0051090 | regulation of DNA-binding transcription factor activity | 3.84e-03 |
| FGFR2 | GO:0030900 | forebrain development | 3.84e-03 |
| FGFR2 | GO:0051347 | positive regulation of transferase activity | 3.96e-03 |
| FGFR2 | GO:1904888 | cranial skeletal system development | 4.12e-03 |
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Related Drugs to FGFR2_OPTN |
| 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 FGFR2-OPTN 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 FGFR2_OPTN |
| 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 | FGFR2 | C2931196 | Craniofacial dysostosis type 1 | 23 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | FGFR2 | C0220658 | Pfeiffer Syndrome | 21 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | FGFR2 | C0001193 | Apert syndrome | 19 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C0795998 | JACKSON-WEISS SYNDROME | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C0175699 | Saethre-Chotzen Syndrome | 8 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | FGFR2 | C1852406 | Cutis Gyrata Syndrome of Beare And Stevenson | 8 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C2936791 | Antley-Bixler Syndrome, Autosomal Dominant | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C1510455 | Acrocephalosyndactylia | 6 | CTD_human;ORPHANET |
| Hgene | FGFR2 | C0265269 | Lacrimoauriculodentodigital syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C0010278 | Craniosynostosis | 4 | CTD_human;GENOMICS_ENGLAND |
| Hgene | FGFR2 | C1863389 | Apert-Crouzon Disease | 4 | CTD_human |
| Hgene | FGFR2 | C1865070 | SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C0006142 | Malignant neoplasm of breast | 3 | CTD_human;UNIPROT |
| Hgene | FGFR2 | C0030044 | Acrocephaly | 3 | CTD_human |
| Hgene | FGFR2 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Hgene | FGFR2 | C0221356 | Brachycephaly | 3 | CTD_human |
| Hgene | FGFR2 | C0265534 | Scaphycephaly | 3 | CTD_human |
| Hgene | FGFR2 | C0265535 | Trigonocephaly | 3 | CTD_human |
| Hgene | FGFR2 | C0376634 | Craniofacial Abnormalities | 3 | CTD_human |
| Hgene | FGFR2 | C0678222 | Breast Carcinoma | 3 | CTD_human |
| Hgene | FGFR2 | C1257931 | Mammary Neoplasms, Human | 3 | CTD_human |
| Hgene | FGFR2 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| Hgene | FGFR2 | C1833340 | Synostotic Posterior Plagiocephaly | 3 | CTD_human |
| Hgene | FGFR2 | C1860819 | Metopic synostosis | 3 | CTD_human |
| Hgene | FGFR2 | C2931150 | Synostotic Anterior Plagiocephaly | 3 | CTD_human |
| Hgene | FGFR2 | C3281247 | BENT BONE DYSPLASIA SYNDROME | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | FGFR2 | C4551902 | Craniosynostosis, Type 1 | 3 | CTD_human |
| Hgene | FGFR2 | C4704874 | Mammary Carcinoma, Human | 3 | CTD_human |
| Hgene | FGFR2 | C0008925 | Cleft Palate | 2 | CTD_human |
| Hgene | FGFR2 | C0011570 | Mental Depression | 2 | PSYGENET |
| Hgene | FGFR2 | C0011581 | Depressive disorder | 2 | PSYGENET |
| Hgene | FGFR2 | C0024623 | Malignant neoplasm of stomach | 2 | CGI;CTD_human |
| Hgene | FGFR2 | C0038356 | Stomach Neoplasms | 2 | CGI;CTD_human |
| Hgene | FGFR2 | C1708349 | Hereditary Diffuse Gastric Cancer | 2 | CTD_human |
| Hgene | FGFR2 | C1837218 | Cleft palate, isolated | 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 |
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