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Kinase Fusion Gene:BMPR1B_JMJD8 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BMPR1B_JMJD8 | KinaseFusionDB ID: KFG656 | FusionGDB2.0 ID: KFG656 | Hgene | Tgene | Gene symbol | BMPR1B | JMJD8 | Gene ID | 658 | 339123 | |
| Gene name | bone morphogenetic protein receptor type 1B | jumonji domain containing 8 | ||||||||||
| Synonyms | ALK-6|ALK6|AMD3|AMDD|BDA1D|BDA2|CDw293 | C16orf20|PP14397 | ||||||||||
| Cytomap | 4q22.3 | 16p13.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | jmjC domain-containing protein 8jumonji domain-containing protein 8 | ||||||||||
| Modification date | 20240413 | 20240305 | ||||||||||
| UniProtAcc | O00238 | Q96S16 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000264568, ENST00000394931, ENST00000440890, ENST00000502683, ENST00000515059, | ENST00000293882, ENST00000412368, ENST00000454700, ENST00000609261, ENST00000562111, ENST00000562824, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BMPR1B [Title/Abstract] AND JMJD8 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BMPR1B(95894396)-JMJD8(732347), # 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 | BMPR1B | GO:0030509 | BMP signaling pathway | 12065756|18184661|18436533 |
| Kinase Fusion gene breakpoints across BMPR1B (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 JMJD8 (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 | AA316499 | BMPR1B | chr4 | 95894396 | JMJD8 | chr16 | 732347 |
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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/:95894396/:732347) - 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 |
| BMPR1B | JMJD8 |
| FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction. {ECO:0000250|UniProtKB:P36898}. | FUNCTION: Functions as a positive regulator of TNF-induced NF-kappa-B signaling (PubMed:27671354). Regulates angiogenesis and cellular metabolism through interaction with PKM (PubMed:27199445). {ECO:0000269|PubMed:27199445, ECO:0000269|PubMed:27671354}. |
| 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 BMPR1B_JMJD8 |
| 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 |
| BMPR1B | O00238 | human | SMAD1 | Q15797 | S465 | HNPIssVs_______ | |
| BMPR1B | O00238 | human | SMAD2 | Q15796 | S467 | sVRCssMs_______ | |
| BMPR1B | O00238 | human | SMAD1 | Q15797 | S462 | GsPHNPIssVs____ | |
| BMPR1B | O00238 | human | SMAD2 | Q15796 | S465 | sPsVRCssMs_____ | |
| BMPR1B | O00238 | human | SMAD1 | Q15797 | S463 | sPHNPIssVs_____ | |
| BMPR1B | O00238 | 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 |
| BMPR1B | ID | Description | 0.00e+00 |
| BMPR1B | GO:0031053 | primary miRNA processing | 1.68e-04 |
| BMPR1B | GO:0035196 | miRNA processing | 4.21e-04 |
| BMPR1B | GO:0009880 | embryonic pattern specification | 4.21e-04 |
| BMPR1B | GO:0001707 | mesoderm formation | 4.21e-04 |
| BMPR1B | GO:0048332 | mesoderm morphogenesis | 4.21e-04 |
| BMPR1B | GO:0060395 | SMAD protein signal transduction | 4.21e-04 |
| BMPR1B | GO:0070918 | regulatory ncRNA processing | 4.21e-04 |
| BMPR1B | GO:0001657 | ureteric bud development | 4.21e-04 |
| BMPR1B | GO:0072163 | mesonephric epithelium development | 4.21e-04 |
| BMPR1B | GO:0072164 | mesonephric tubule development | 4.21e-04 |
| BMPR1B | GO:0001823 | mesonephros development | 4.21e-04 |
| BMPR1B | GO:0001704 | formation of primary germ layer | 5.97e-04 |
| BMPR1B | GO:0007498 | mesoderm development | 6.23e-04 |
| BMPR1B | GO:0072073 | kidney epithelium development | 7.04e-04 |
| BMPR1B | GO:0030509 | BMP signaling pathway | 7.81e-04 |
| BMPR1B | GO:0035265 | organ growth | 7.81e-04 |
| BMPR1B | GO:0071772 | response to BMP | 7.81e-04 |
| BMPR1B | GO:0071773 | cellular response to BMP stimulus | 7.81e-04 |
| BMPR1B | GO:0007369 | gastrulation | 8.96e-04 |
| BMPR1B | GO:0007179 | transforming growth factor beta receptor signaling pathway | 1.15e-03 |
| BMPR1B | GO:0045165 | cell fate commitment | 1.64e-03 |
| BMPR1B | GO:0071560 | cellular response to transforming growth factor beta stimulus | 1.64e-03 |
| BMPR1B | GO:0071559 | response to transforming growth factor beta | 1.64e-03 |
| BMPR1B | GO:0001822 | kidney development | 1.81e-03 |
| BMPR1B | GO:0072001 | renal system development | 1.85e-03 |
| BMPR1B | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 2.84e-03 |
| BMPR1B | GO:0034470 | ncRNA processing | 3.14e-03 |
| BMPR1B | GO:0007389 | pattern specification process | 3.55e-03 |
| BMPR1B | GO:0007440 | foregut morphogenesis | 5.55e-03 |
| BMPR1B | GO:0048340 | paraxial mesoderm morphogenesis | 5.55e-03 |
| BMPR1B | GO:0071895 | odontoblast differentiation | 5.90e-03 |
| BMPR1B | GO:0009950 | dorsal/ventral axis specification | 6.24e-03 |
| BMPR1B | GO:0048368 | lateral mesoderm development | 7.56e-03 |
| BMPR1B | GO:0001710 | mesodermal cell fate commitment | 8.08e-03 |
| BMPR1B | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | 8.08e-03 |
| BMPR1B | GO:0048339 | paraxial mesoderm development | 8.32e-03 |
| BMPR1B | GO:0003184 | pulmonary valve morphogenesis | 8.32e-03 |
| BMPR1B | GO:0060039 | pericardium development | 8.32e-03 |
| BMPR1B | GO:0038092 | nodal signaling pathway | 8.53e-03 |
| BMPR1B | GO:0023019 | signal transduction involved in regulation of gene expression | 9.15e-03 |
| BMPR1B | GO:0003177 | pulmonary valve development | 9.33e-03 |
| BMPR1B | GO:0062009 | secondary palate development | 1.03e-02 |
| BMPR1B | GO:0032925 | regulation of activin receptor signaling pathway | 1.03e-02 |
| BMPR1B | GO:0030325 | adrenal gland development | 1.03e-02 |
| BMPR1B | GO:1903672 | positive regulation of sprouting angiogenesis | 1.03e-02 |
| BMPR1B | GO:0070723 | response to cholesterol | 1.08e-02 |
| BMPR1B | GO:0060795 | cell fate commitment involved in formation of primary germ layer | 1.11e-02 |
| BMPR1B | GO:0061036 | positive regulation of cartilage development | 1.11e-02 |
| BMPR1B | GO:0048333 | mesodermal cell differentiation | 1.15e-02 |
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Related Drugs to BMPR1B_JMJD8 |
| 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 BMPR1B-JMJD8 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 BMPR1B_JMJD8 |
| 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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