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Kinase Fusion Gene:B3GALNT2_BMPR1B |
Kinase Fusion Protein Summary |
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Kinase Fusion partner gene information | Kinase Fusion gene name: B3GALNT2_BMPR1B | KinaseFusionDB ID: KFG536 | FusionGDB2.0 ID: KFG536 | Hgene | Tgene | Gene symbol | B3GALNT2 | BMPR1B | Gene ID | 148789 | 658 | |
Gene name | beta-1,3-N-acetylgalactosaminyltransferase 2 | bone morphogenetic protein receptor type 1B | ||||||||||
Synonyms | B3GalNAc-T2|MDDGA11 | ALK-6|ALK6|AMD3|AMDD|BDA1D|BDA2|CDw293 | ||||||||||
Cytomap | 1q42.3 | 4q22.3 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2beta-1,3-GalNAc-T2 | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | ||||||||||
Modification date | 20240411 | 20240413 | ||||||||||
UniProtAcc | Q8NCR0 | O00238 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000313984, ENST00000366600, ENST00000494378, | ENST00000502683, ENST00000264568, ENST00000394931, ENST00000440890, ENST00000515059, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: B3GALNT2 [Title/Abstract] AND BMPR1B [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | B3GALNT2(235657990)-BMPR1B(96046133), # samples:1 |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | B3GALNT2 | GO:0006493 | protein O-linked glycosylation | 23929950 |
Tgene | BMPR1B | GO:0030509 | BMP signaling pathway | 12065756|18184661|18436533 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 |
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![]() * 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-E2-A1IU | B3GALNT2 | chr1 | 235657990 | BMPR1B | chr4 | 96046133 |
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Kinase Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
ENST00000366600 | ENST00000515059 | B3GALNT2 | chr1 | 235657990 | BMPR1B | chr4 | 96046133 | 5327 | 500 |
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Kinase Fusion Amino Acid Sequences |
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>Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq >ENST00000366600_ENST00000515059_B3GALNT2_chr1_235657990_BMPR1B_chr4_96046133_length(amino acids)=500 MRDRRSGAGSCEEPSRRRRARGRACSEWSLVSRRPSVSALAGPLPLRRDAGEPGSRRGRPMRNWLVLLCPCVLGAALHLWLRLRSPPPAC ASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQ SQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSW TQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTN EVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLRPS -------------------------------------------------------------- |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:235657990/chr4:96046133) - 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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Hgene | Tgene |
B3GALNT2 | BMPR1B |
FUNCTION: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. {ECO:0000269|PubMed:14724282, ECO:0000269|PubMed:23453667, ECO:0000269|PubMed:23929950}. | 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}. |
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Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 3 | 10 | 174_203 | 148 | 503 | Domain | Note=GS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00585 |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 4 | 11 | 174_203 | 148 | 503 | Domain | Note=GS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00585 |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 6 | 13 | 174_203 | 148 | 503 | Domain | Note=GS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00585 |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 3 | 10 | 204_494 | 148 | 503 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 4 | 11 | 204_494 | 148 | 503 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 4 | 11 | 204_494 | 178 | 533 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Tgene | B3GALNT2 | 235657990 | BMPR1B | 96046133 | ENST00000366600 | 6 | 13 | 204_494 | 148 | 503 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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Kinase Fusion Protein Structures |
![]() * 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 >>>46_B3GALNT2_BMPR1B | ENST00000366600 | ENST00000515059 | B3GALNT2 | chr1 | 235657990 | BMPR1B | chr4 | 96046133 | MRDRRSGAGSCEEPSRRRRARGRACSEWSLVSRRPSVSALAGPLPLRRDAGEPGSRRGRPMRNWLVLLCPCVLGAALHLWLRLRSPPPAC ASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQ SQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSW TQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTN EVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLRPS | 500 |
3D view using mol* of 46_B3GALNT2_BMPR1B | ||||||||||
PDB file >>>TKFP_67_B3GALNT2_BMPR1B | ENST00000366600 | ENST00000515059 | B3GALNT2 | chr1 | 235657990 | BMPR1B | chr4 | 96046133 | MRDRRSGAGSCEEPSRRRRARGRACSEWSLVSRRPSVSALAGPLPLRRDAGEPGSRRGRPMRNWLVLLCPCVLGAALHLWLRLRSPPPAC ASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRYKRQETRPRYSIGLEQDETYIPPGESLRDLIEQ SQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEASWFRETEIYQTVLMRHENILGFIAADIKGTGSW TQLYLITDYHENGSLYDYLKSTTLDAKSMLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISDTN EVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIVEEYQLPYHDLVPSDPSYEDMREIVCIKKLRPS | 500_B3GALNT2_BMPR1B |
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Comparison of Fusion Protein Isoforms |
![]() * Download the pdb file and open it from the molstar online viewer. |
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Comparison of Fusion Protein Sequences/Structures with Known Sequences/Structures from PDB |
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. * The blue color at the bottom marks the best active site residues. |
46_B3GALNT2_BMPR1B.png |
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46_B3GALNT2_BMPR1B.png |
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Potential Active Site Information |
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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 |
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46_B3GALNT2_BMPR1B_ramachandran.png |
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Virtual Screening Results |
![]() Distribution of the number of occurrence across all approved kinase inhibitors. |
5'-kinase fusion protein case |
3'-kinase fusion protein case |
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![]() * 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 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Selpercatinib | -6.91832 | -6.9488199999999996 | -35.9068 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Ripretinib | -6.597119999999999 | -6.60412 | -42.4846 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Ripretinib | -6.597119999999999 | -6.60412 | -42.4846 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Ibrutinib | -6.57355 | -6.57355 | -39.0087 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.53504 | -7.33254 | -43.0998 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.53504 | -7.33254 | -43.0998 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.53504 | -7.33254 | -43.0998 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.53504 | -7.33254 | -43.0998 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Zanubrutinib | -6.47695 | -6.47695 | -42.3329 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.33033 | -6.661630000000001 | -41.9878 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.33033 | -6.661630000000001 | -41.9878 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.33033 | -6.661630000000001 | -41.9878 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.33033 | -6.661630000000001 | -41.9878 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.28949 | -6.6207899999999995 | -40.3994 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.28949 | -6.6207899999999995 | -40.3994 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.28949 | -6.6207899999999995 | -40.3994 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Avapritinib | -6.28949 | -6.6207899999999995 | -40.3994 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Belumosudil | -6.25208 | -6.25978 | -38.0521 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Axitinib | -6.21411 | -6.2173099999999994 | -30.2138 |
46_B3GALNT2_BMPR1B-DOCK_HTVS_1-001 | Baricitinib | -6.15991 | -6.15991 | -34.9168 |
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Kinase-Substrate Information of B3GALNT2_BMPR1B |
![]() (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____ |
![]() (GeneMANIA website) |
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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 B3GALNT2_BMPR1B |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to B3GALNT2_BMPR1B |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (PubMed, 04-01-2024) |
MeSH ID | MeSH term |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
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Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |