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Kinase Fusion Gene:FGFR2_CTNNB1 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: FGFR2_CTNNB1 | KinaseFusionDB ID: KFG2335 | FusionGDB2.0 ID: KFG2335 | Hgene | Tgene | Gene symbol | FGFR2 | CTNNB1 | Gene ID | 2263 | 1499 | |
Gene name | fibroblast growth factor receptor 2 | catenin beta 1 | ||||||||||
Synonyms | BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25 | CTNNB|EVR7|MRD19|NEDSDV|armadillo | ||||||||||
Cytomap | 10q26.13 | 3p22.1 | ||||||||||
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 | catenin beta-1catenin (cadherin-associated protein), beta 1, 88kDa | ||||||||||
Modification date | 20240416 | 20240416 | ||||||||||
UniProtAcc | P21802 | P35222 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000369061, ENST00000357555, ENST00000358487, ENST00000356226, ENST00000369060, ENST00000369059, ENST00000346997, ENST00000457416, ENST00000351936, ENST00000360144, ENST00000369056, ENST00000490349, ENST00000359354, ENST00000478859, | ENST00000471014, ENST00000405570, ENST00000396183, ENST00000349496, ENST00000453024, ENST00000396185, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGFR2 [Title/Abstract] AND CTNNB1 [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 | CTNNB1 | GO:0000209 | protein polyubiquitination | 29374064 |
Tgene | CTNNB1 | GO:0008285 | negative regulation of cell population proliferation | 12970740 |
Tgene | CTNNB1 | GO:0030997 | regulation of centriole-centriole cohesion | 18086858 |
Tgene | CTNNB1 | GO:0032355 | response to estradiol | 15304487 |
Tgene | CTNNB1 | GO:0033234 | negative regulation of protein sumoylation | 22155184 |
Tgene | CTNNB1 | GO:0043065 | positive regulation of apoptotic process | 12651860|12970740 |
Tgene | CTNNB1 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 29374064 |
Tgene | CTNNB1 | GO:0043525 | positive regulation of neuron apoptotic process | 19591802 |
Tgene | CTNNB1 | GO:0045893 | positive regulation of DNA-templated transcription | 12970740|18787224 |
Tgene | CTNNB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9065402|11751639|12651860|14660579|18193033 |
Tgene | CTNNB1 | GO:0060070 | canonical Wnt signaling pathway | 10644691|11751639|12937339|19187541 |
Tgene | CTNNB1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
Tgene | CTNNB1 | GO:0090279 | regulation of calcium ion import | 19996314 |
Tgene | CTNNB1 | GO:2000008 | regulation of protein localization to cell surface | 19996314 |
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 CTNNB1 (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 | KATO III | FGFR2 | chr10 | 123353223 | CTNNB1 | chr3 | 41274832 |
CCLE | KATO III | FGFR2 | chr10 | 123353223 | CTNNB1 | chr3 | 41265512 |
CCLE | KATO III | FGFR2 | chr10 | 123324952 | CTNNB1 | chr3 | 41266445 |
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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 |
FGFR2 | CTNNB1 |
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: Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex (By similarity). Acts as a negative regulator of centrosome cohesion (PubMed:18086858). Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization (PubMed:21262353). Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2 (PubMed:18957423). Disrupts PML function and PML-NB formation by inhibiting RANBP2-mediated sumoylation of PML (PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, via promoting the transcription of differentiation factors such as LEF1, BMP2 and BMP4 (By similarity). Activity is repressed in a MSX1-mediated manner at the bell stage of mesenchymal tooth germ formation which prevents premature differentiation of odontoblasts (By similarity). {ECO:0000250|UniProtKB:Q02248, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423, ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938}. |
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 FGFR2_CTNNB1 |
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_CTNNB1 |
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-CTNNB1 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_CTNNB1 |
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 |