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Kinase Fusion Gene:FGFR4_ACTG1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: FGFR4_ACTG1 | KinaseFusionDB ID: KFG2366 | FusionGDB2.0 ID: KFG2366 | Hgene | Tgene | Gene symbol | FGFR4 | ACTG1 | Gene ID | 2264 | 71 | |
| Gene name | fibroblast growth factor receptor 4 | actin gamma 1 | ||||||||||
| Synonyms | CD334|JTK2|TKF | ACT|ACTG|DFNA20|DFNA26|HEL-176 | ||||||||||
| Cytomap | 5q35.2 | 17q25.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | fibroblast growth factor receptor 4hydroxyaryl-protein kinaseprotein-tyrosine kinasetyrosine kinase related to fibroblast growth factor receptortyrosylprotein kinase | actin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176 | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | P22455 | P63261 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000292408, ENST00000292410, ENST00000393637, ENST00000393648, ENST00000502906, ENST00000507708, | ENST00000331925, ENST00000573283, ENST00000575087, ENST00000575842, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FGFR4 [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FGFR4(176516941)-ACTG1(79478652), # 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 | FGFR4 | GO:0008284 | positive regulation of cell population proliferation | 8663044 |
| Hgene | FGFR4 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 21653700 |
| Hgene | FGFR4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 18480409|20683963 |
| Hgene | FGFR4 | GO:0046777 | protein autophosphorylation | 20798051 |
| Kinase Fusion gene breakpoints across FGFR4 (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 ACTG1 (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-N8-A4PN | FGFR4 | chr5 | 176516941 | ACTG1 | chr17 | 79478652 |
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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/:176516941/:79478652) - 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 |
| FGFR4 | ACTG1 |
| FUNCTION: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. 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. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling. {ECO:0000269|PubMed:11433297, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18480409, ECO:0000269|PubMed:18670643, ECO:0000269|PubMed:20018895, ECO:0000269|PubMed:20683963, ECO:0000269|PubMed:20798051, ECO:0000269|PubMed:20876804, ECO:0000269|PubMed:21653700, ECO:0000269|PubMed:7518429, ECO:0000269|PubMed:7680645, ECO:0000269|PubMed:8663044}. | FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}. |
| 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 FGFR4_ACTG1 |
| 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 |
| FGFR4 | P22455 | human | FGFR4 | P22455 | Y754 | LLAVSEEyLDLRLTF | |
| FGFR4 | P22455 | human | STK4 | Q13043 | Y433 | kIPQDGDyEFLksWt | Mst1_SARAH |
| FGFR4 | P22455 | human | GLO1 | Q04760 | Y136 | GIAVPDVysACkRFE | Glyoxalase |
| 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 |
| FGFR4 | ID | Description | 0.00e+00 |
| FGFR4 | GO:0046777 | protein autophosphorylation | 2.78e-02 |
| FGFR4 | GO:0042180 | cellular ketone metabolic process | 2.78e-02 |
| FGFR4 | GO:1903943 | regulation of hepatocyte apoptotic process | 4.16e-02 |
| FGFR4 | GO:0003157 | endocardium development | 4.16e-02 |
| FGFR4 | GO:0070857 | regulation of bile acid biosynthetic process | 4.16e-02 |
| FGFR4 | GO:1902043 | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 4.16e-02 |
| FGFR4 | GO:1904251 | regulation of bile acid metabolic process | 4.16e-02 |
| FGFR4 | GO:0010715 | regulation of extracellular matrix disassembly | 4.16e-02 |
| FGFR4 | GO:0055062 | phosphate ion homeostasis | 4.16e-02 |
| FGFR4 | GO:0097284 | hepatocyte apoptotic process | 4.16e-02 |
| FGFR4 | GO:0035162 | embryonic hemopoiesis | 4.16e-02 |
| FGFR4 | GO:0060706 | cell differentiation involved in embryonic placenta development | 4.16e-02 |
| FGFR4 | GO:0006929 | substrate-dependent cell migration | 4.16e-02 |
| FGFR4 | GO:0001569 | branching involved in blood vessel morphogenesis | 4.81e-02 |
| FGFR4 | GO:0006699 | bile acid biosynthetic process | 4.81e-02 |
| FGFR4 | GO:0046621 | negative regulation of organ growth | 4.81e-02 |
| FGFR4 | GO:1904037 | positive regulation of epithelial cell apoptotic process | 5.08e-02 |
| FGFR4 | GO:0035329 | hippo signaling | 5.08e-02 |
| FGFR4 | GO:0008206 | bile acid metabolic process | 5.15e-02 |
| FGFR4 | GO:1902041 | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 5.15e-02 |
| FGFR4 | GO:2001238 | positive regulation of extrinsic apoptotic signaling pathway | 5.15e-02 |
| FGFR4 | GO:0006749 | glutathione metabolic process | 5.15e-02 |
| FGFR4 | GO:0032092 | positive regulation of protein binding | 5.15e-02 |
| FGFR4 | GO:0022617 | extracellular matrix disassembly | 5.15e-02 |
| FGFR4 | GO:1903053 | regulation of extracellular matrix organization | 5.15e-02 |
| FGFR4 | GO:2000573 | positive regulation of DNA biosynthetic process | 5.26e-02 |
| FGFR4 | GO:0006081 | cellular aldehyde metabolic process | 5.26e-02 |
| FGFR4 | GO:0045600 | positive regulation of fat cell differentiation | 5.26e-02 |
| FGFR4 | GO:0050810 | regulation of steroid biosynthetic process | 5.29e-02 |
| FGFR4 | GO:0008543 | fibroblast growth factor receptor signaling pathway | 5.29e-02 |
| FGFR4 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 5.29e-02 |
| FGFR4 | GO:0001892 | embryonic placenta development | 5.29e-02 |
| FGFR4 | GO:0051262 | protein tetramerization | 5.29e-02 |
| FGFR4 | GO:0046620 | regulation of organ growth | 5.29e-02 |
| FGFR4 | GO:0042632 | cholesterol homeostasis | 5.29e-02 |
| FGFR4 | GO:0055092 | sterol homeostasis | 5.29e-02 |
| FGFR4 | GO:0001841 | neural tube formation | 5.29e-02 |
| FGFR4 | GO:0019218 | regulation of steroid metabolic process | 5.29e-02 |
| FGFR4 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 5.29e-02 |
| FGFR4 | GO:0030316 | osteoclast differentiation | 5.29e-02 |
| FGFR4 | GO:1904035 | regulation of epithelial cell apoptotic process | 5.29e-02 |
| FGFR4 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 5.29e-02 |
| FGFR4 | GO:0048640 | negative regulation of developmental growth | 5.29e-02 |
| FGFR4 | GO:2000278 | regulation of DNA biosynthetic process | 5.29e-02 |
| FGFR4 | GO:0010811 | positive regulation of cell-substrate adhesion | 5.29e-02 |
| FGFR4 | GO:0071774 | response to fibroblast growth factor | 5.29e-02 |
| FGFR4 | GO:0001838 | embryonic epithelial tube formation | 5.29e-02 |
| FGFR4 | GO:0051099 | positive regulation of binding | 5.29e-02 |
| FGFR4 | GO:0072175 | epithelial tube formation | 5.29e-02 |
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Related Drugs to FGFR4_ACTG1 |
| 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 FGFR4-ACTG1 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 FGFR4_ACTG1 |
| 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 | ACTG1 | C3711374 | Nonsyndromic Deafness | 18 | CLINGEN |
| Tgene | ACTG1 | C1858172 | Deafness, Autosomal Dominant 20 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | ACTG1 | C3281235 | BARAITSER-WINTER SYNDROME 2 | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
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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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