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Kinase Fusion Gene:BCRP2_TGFBR1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BCRP2_TGFBR1 | KinaseFusionDB ID: KFG586 | FusionGDB2.0 ID: KFG586 | Hgene | Tgene | Gene symbol | BCRP2 | TGFBR1 | Gene ID | 8816 | 7046 | |
| Gene name | DDB1 and CUL4 associated factor 5 | transforming growth factor beta receptor 1 | ||||||||||
| Synonyms | BCRG2|BCRP2|D14S1461E|WDR22 | AAT5|ACVRLK4|ALK-5|ALK5|ESS1|LDS1|LDS1A|LDS2A|MSSE|SKR4|TBR-i|TBRI|TGFR-1|tbetaR-I | ||||||||||
| Cytomap | 14q24.1 | 9q22.33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | DDB1- and CUL4-associated factor 5WD repeat-containing protein 22breakpoint cluster region protein, uterine leiomyoma, 2 | TGF-beta receptor type-1activin A receptor type II-like kinase, 53kDaactivin A receptor type II-like protein kinase of 53kDactivin receptor-like kinase 5mutant transforming growth factor beta receptor Iserine/threonine-protein kinase receptor R4tran | ||||||||||
| Modification date | 20240305 | 20240403 | ||||||||||
| UniProtAcc | . | P36897 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000461808, | ENST00000374994, ENST00000552516, ENST00000374990, ENST00000550253, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BCRP2 [Title/Abstract] AND TGFBR1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BCRP2(21468879)-TGFBR1(101915931), # 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 |
| Tgene | TGFBR1 | GO:0001837 | epithelial to mesenchymal transition | 15761148 |
| Tgene | TGFBR1 | GO:0006355 | regulation of DNA-templated transcription | 14517293 |
| Tgene | TGFBR1 | GO:0007165 | signal transduction | 14633705 |
| Tgene | TGFBR1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 1333888|9311995|9389648|11157754|12065756 |
| Tgene | TGFBR1 | GO:0018105 | peptidyl-serine phosphorylation | 15761148 |
| Tgene | TGFBR1 | GO:0030307 | positive regulation of cell growth | 18625725 |
| Tgene | TGFBR1 | GO:0030335 | positive regulation of cell migration | 19736306 |
| Tgene | TGFBR1 | GO:0031396 | regulation of protein ubiquitination | 18758450 |
| Tgene | TGFBR1 | GO:0045893 | positive regulation of DNA-templated transcription | 9311995|9389648 |
| Tgene | TGFBR1 | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 18625725 |
| Tgene | TGFBR1 | GO:0060391 | positive regulation of SMAD protein signal transduction | 9311995|9389648|11157754|12015308|18625725|19736306 |
| Tgene | TGFBR1 | GO:0070723 | response to cholesterol | 17878231 |
| Tgene | TGFBR1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19494318 |
| Tgene | TGFBR1 | GO:2001235 | positive regulation of apoptotic signaling pathway | 18758450 |
| Kinase Fusion gene breakpoints across BCRP2 (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 TGFBR1 (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 |
| ChiTaRS5.0 | CB054704 | BCRP2 | chr22 | 21468879 | TGFBR1 | chr9 | 101915931 |
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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/:21468879/:101915931) - 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 |
| . | TGFBR1 |
| FUNCTION: Adhesion plaque protein. Binds alpha-actinin and the CRP protein. Important for targeting TES and ENA/VASP family members to focal adhesions and for the formation of actin-rich structures. May be a component of a signal transduction pathway that mediates adhesion-stimulated changes in gene expression (By similarity). {ECO:0000250}. | FUNCTION: Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation. {ECO:0000269|PubMed:15761148, ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:18758450, ECO:0000269|PubMed:7774578, ECO:0000269|PubMed:8752209, ECO:0000269|PubMed:8980228, ECO:0000269|PubMed:9346908}. |
| 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 BCRP2_TGFBR1 |
| 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 |
| TGFBR1 | P36897 | human | TP63 | Q9H3D4-2 | S68 | TFDALsPsPAIPSNT | |
| TGFBR1 | P36897 | human | SMAD2 | Q15796 | S467 | sVRCssMs_______ | |
| TGFBR1 | P36897 | human | ENG | P17813 | S646 | StNHSIGsTQstPCS | |
| TGFBR1 | P36897 | human | TP63 | Q9H3D4-2 | S66 | SSTFDALsPsPAIPS | |
| TGFBR1 | P36897 | human | OTUB1 | Q96FW1 | S18 | QEPLGsDsEGVNCLA | |
| TGFBR1 | P36897 | human | TGFBR3 | Q03167 | S831 | SPPASENsSAAHSIG | |
| TGFBR1 | P36897 | human | SMAD2 | Q15796 | S465 | sPsVRCssMs_____ | |
| TGFBR1 | P36897 | human | EEF1A1 | P68104 | S300 | EMHHEALsEALPGDN | GTP_EFTU_D2 |
| TGFBR1 | P36897 | human | ENG | P17813 | S649 | HSIGsTQstPCStSS | |
| TGFBR1 | P36897 | human | SMAD2 | Q15796 | S464 | GsPsVRCssMs____ |
| 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 |
| TGFBR1 | ID | Description | 0.00e+00 |
| TGFBR1 | GO:0090100 | positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 9.37e-04 |
| TGFBR1 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 9.37e-04 |
| TGFBR1 | GO:1903844 | regulation of cellular response to transforming growth factor beta stimulus | 9.37e-04 |
| TGFBR1 | GO:0030509 | BMP signaling pathway | 9.37e-04 |
| TGFBR1 | GO:0001837 | epithelial to mesenchymal transition | 9.37e-04 |
| TGFBR1 | GO:0071772 | response to BMP | 9.37e-04 |
| TGFBR1 | GO:0071773 | cellular response to BMP stimulus | 9.37e-04 |
| TGFBR1 | GO:0062009 | secondary palate development | 1.36e-03 |
| TGFBR1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 1.52e-03 |
| TGFBR1 | GO:0061384 | heart trabecula morphogenesis | 1.61e-03 |
| TGFBR1 | GO:0060317 | cardiac epithelial to mesenchymal transition | 1.61e-03 |
| TGFBR1 | GO:0048762 | mesenchymal cell differentiation | 1.61e-03 |
| TGFBR1 | GO:0003007 | heart morphogenesis | 1.61e-03 |
| TGFBR1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 1.65e-03 |
| TGFBR1 | GO:0003203 | endocardial cushion morphogenesis | 1.65e-03 |
| TGFBR1 | GO:0071559 | response to transforming growth factor beta | 1.65e-03 |
| TGFBR1 | GO:0030513 | positive regulation of BMP signaling pathway | 1.65e-03 |
| TGFBR1 | GO:0090092 | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1.65e-03 |
| TGFBR1 | GO:0055010 | ventricular cardiac muscle tissue morphogenesis | 1.80e-03 |
| TGFBR1 | GO:0061383 | trabecula morphogenesis | 1.80e-03 |
| TGFBR1 | GO:0048546 | digestive tract morphogenesis | 1.80e-03 |
| TGFBR1 | GO:0060485 | mesenchyme development | 1.80e-03 |
| TGFBR1 | GO:0003197 | endocardial cushion development | 1.92e-03 |
| TGFBR1 | GO:0090287 | regulation of cellular response to growth factor stimulus | 2.11e-03 |
| TGFBR1 | GO:0072132 | mesenchyme morphogenesis | 2.11e-03 |
| TGFBR1 | GO:0003229 | ventricular cardiac muscle tissue development | 2.11e-03 |
| TGFBR1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 2.11e-03 |
| TGFBR1 | GO:0055008 | cardiac muscle tissue morphogenesis | 2.18e-03 |
| TGFBR1 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 2.64e-03 |
| TGFBR1 | GO:0003208 | cardiac ventricle morphogenesis | 2.64e-03 |
| TGFBR1 | GO:0060411 | cardiac septum morphogenesis | 2.64e-03 |
| TGFBR1 | GO:1904888 | cranial skeletal system development | 2.64e-03 |
| TGFBR1 | GO:0003002 | regionalization | 2.64e-03 |
| TGFBR1 | GO:0060415 | muscle tissue morphogenesis | 2.64e-03 |
| TGFBR1 | GO:0048732 | gland development | 2.78e-03 |
| TGFBR1 | GO:0003151 | outflow tract morphogenesis | 2.91e-03 |
| TGFBR1 | GO:0048644 | muscle organ morphogenesis | 2.91e-03 |
| TGFBR1 | GO:0001570 | vasculogenesis | 2.98e-03 |
| TGFBR1 | GO:0007389 | pattern specification process | 3.06e-03 |
| TGFBR1 | GO:0060021 | roof of mouth development | 3.40e-03 |
| TGFBR1 | GO:0003279 | cardiac septum development | 4.67e-03 |
| TGFBR1 | GO:0010717 | regulation of epithelial to mesenchymal transition | 4.81e-03 |
| TGFBR1 | GO:0030510 | regulation of BMP signaling pathway | 5.58e-03 |
| TGFBR1 | GO:0002065 | columnar/cuboidal epithelial cell differentiation | 5.64e-03 |
| TGFBR1 | GO:0003206 | cardiac chamber morphogenesis | 5.74e-03 |
| TGFBR1 | GO:0003231 | cardiac ventricle development | 5.74e-03 |
| TGFBR1 | GO:0007368 | determination of left/right symmetry | 6.13e-03 |
| TGFBR1 | GO:0048565 | digestive tract development | 6.13e-03 |
| TGFBR1 | GO:0007498 | mesoderm development | 6.18e-03 |
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Related Drugs to BCRP2_TGFBR1 |
| 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 BCRP2-TGFBR1 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 BCRP2_TGFBR1 |
| 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 |
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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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