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Kinase Fusion Gene:BMX_ARHGAP12 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BMX_ARHGAP12 | KinaseFusionDB ID: KFG686 | FusionGDB2.0 ID: KFG686 | Hgene | Tgene | Gene symbol | BMX | ARHGAP12 | Gene ID | 660 | 94134 | |
| Gene name | BMX non-receptor tyrosine kinase | Rho GTPase activating protein 12 | ||||||||||
| Synonyms | ETK|PSCTK2|PSCTK3 | - | ||||||||||
| Cytomap | Xp22.2 | 10p11.22 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | cytoplasmic tyrosine-protein kinase BMXBTK-like on X chromosomeEtk/Bmx cytosolic tyrosine kinaseNTK38 tyrosine kinasebone marrow tyrosine kinase gene in chromosome X proteinepithelial and endothelial tyrosine kinase | rho GTPase-activating protein 12rho-type GTPase-activating protein 12 | ||||||||||
| Modification date | 20240305 | 20240403 | ||||||||||
| UniProtAcc | P51813 | Q8IWW6 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000342014, ENST00000348343, ENST00000357607, ENST00000463891, | ENST00000311380, ENST00000344936, ENST00000375245, ENST00000375250, ENST00000396144, ENST00000492028, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BMX [Title/Abstract] AND ARHGAP12 [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 | BMX | GO:0007165 | signal transduction | 10688651|11331870 |
| Hgene | BMX | GO:0046777 | protein autophosphorylation | 11331870 |
| Kinase Fusion gene breakpoints across BMX (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 ARHGAP12 (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 |
| ChimerKB4 | . | BMX | chrX | 15549530 | ARHGAP12 | chr10 | 32217770 |
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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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BMX | ARHGAP12 |
| FUNCTION: Non-receptor tyrosine kinase that plays central but diverse modulatory roles in various signaling processes involved in the regulation of actin reorganization, cell migration, cell proliferation and survival, cell adhesion, and apoptosis. Participates in signal transduction stimulated by growth factor receptors, cytokine receptors, G-protein coupled receptors, antigen receptors and integrins. Induces tyrosine phosphorylation of BCAR1 in response to integrin regulation. Activation of BMX by integrins is mediated by PTK2/FAK1, a key mediator of integrin signaling events leading to the regulation of actin cytoskeleton and cell motility. Plays a critical role in TNF-induced angiogenesis, and implicated in the signaling of TEK and FLT1 receptors, 2 important receptor families essential for angiogenesis. Required for the phosphorylation and activation of STAT3, a transcription factor involved in cell differentiation. Also involved in interleukin-6 (IL6) induced differentiation. Also plays a role in programming adaptive cytoprotection against extracellular stress in different cell systems, salivary epithelial cells, brain endothelial cells, and dermal fibroblasts. May be involved in regulation of endocytosis through its interaction with an endosomal protein RUFY1. May also play a role in the growth and differentiation of hematopoietic cells; as well as in signal transduction in endocardial and arterial endothelial cells. {ECO:0000269|PubMed:10688651, ECO:0000269|PubMed:11331870, ECO:0000269|PubMed:12370298, ECO:0000269|PubMed:12832404, ECO:0000269|PubMed:15788485, ECO:0000269|PubMed:18292575, ECO:0000269|PubMed:9520419}. | FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}. |
| 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 BMX_ARHGAP12 |
| 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 |
| BMX | P51813 | human | PTK2 | Q05397 | Y925 | DRsNDkVyENVtGLV | Focal_AT |
| BMX | P51813 | human | FGFR1 | P11362 | Y653 | RDIHHIDyykKTTNG | PK_Tyr_Ser-Thr |
| BMX | P51813 | human | TNK2 | Q07912 | Y860 | KVsstHyyLLPERPs | |
| BMX | P51813 | human | BAK1 | Q16611 | Y108 | QPTAENAyEyFTkIA | Bcl-2 |
| BMX | P51813 | human | PTK2 | Q05397 | Y577 | yMEDstyyKAsKGKL | PK_Tyr_Ser-Thr |
| BMX | P51813 | human | PTK2 | Q05397 | Y1007 | kMKLAQQyVMTSLQQ | Focal_AT |
| BMX | P51813 | human | PAK1 | Q13153 | Y153 | tDksAEDyNssNALN | |
| BMX | P51813 | human | PTK2 | Q05397 | Y898 | LSsPADSyNEGVKLQ | |
| BMX | P51813 | human | TNK2 | Q07912 | Y859 | KKVsstHyyLLPERP | |
| BMX | P51813 | human | RUFY1 | Q96T51 | Y400 | RQGLDEMysDVWKQL | |
| BMX | P51813 | human | PTK2 | Q05397 | Y742 | HMVQTNHyQVSGYPG | |
| BMX | P51813 | human | FGFR1 | P11362 | Y654 | DIHHIDyykKTTNGR | PK_Tyr_Ser-Thr |
| BMX | P51813 | human | PTK2 | Q05397 | Y861 | PIGNQHIyQPVGKPD | |
| BMX | P51813 | human | BCAR1 | P56945 | Y12 | NVLAKALyDNVAEsP | SH3_1 |
| BMX | P51813 | human | PTK2 | Q05397 | Y441 | GDVHQGIyMsPENPA | PK_Tyr_Ser-Thr |
| BMX | P51813 | human | PTK2 | Q05397 | Y194 | ALEKKSNyEVLEkDV | FERM_M |
| BMX | P51813 | human | RUFY1 | Q96T51 | Y389 | TKVELETykQTRQGL | |
| BMX | P51813 | human | PTK2 | Q05397 | Y576 | RyMEDstyyKAsKGK | PK_Tyr_Ser-Thr |
| BMX | P51813 | human | MET | P08581 | Y1235 | DMyDkEyysVHNktG | PK_Tyr_Ser-Thr |
| 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 |
| BMX | ID | Description | 0.00e+00 |
| BMX | GO:0048012 | hepatocyte growth factor receptor signaling pathway | 5.01e-06 |
| BMX | GO:0010634 | positive regulation of epithelial cell migration | 1.13e-04 |
| BMX | GO:0010594 | regulation of endothelial cell migration | 2.24e-04 |
| BMX | GO:0043542 | endothelial cell migration | 3.56e-04 |
| BMX | GO:0010632 | regulation of epithelial cell migration | 3.56e-04 |
| BMX | GO:0060326 | cell chemotaxis | 4.31e-04 |
| BMX | GO:0033674 | positive regulation of kinase activity | 4.31e-04 |
| BMX | GO:0010631 | epithelial cell migration | 4.85e-04 |
| BMX | GO:0090132 | epithelium migration | 4.85e-04 |
| BMX | GO:0090130 | tissue migration | 4.85e-04 |
| BMX | GO:0051347 | positive regulation of transferase activity | 6.12e-04 |
| BMX | GO:2001028 | positive regulation of endothelial cell chemotaxis | 6.12e-04 |
| BMX | GO:0010595 | positive regulation of endothelial cell migration | 6.12e-04 |
| BMX | GO:0006935 | chemotaxis | 7.00e-04 |
| BMX | GO:0050921 | positive regulation of chemotaxis | 7.00e-04 |
| BMX | GO:0042330 | taxis | 7.00e-04 |
| BMX | GO:0001667 | ameboidal-type cell migration | 8.21e-04 |
| BMX | GO:2001026 | regulation of endothelial cell chemotaxis | 1.09e-03 |
| BMX | GO:0002433 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis | 1.16e-03 |
| BMX | GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | 1.16e-03 |
| BMX | GO:0031334 | positive regulation of protein-containing complex assembly | 1.29e-03 |
| BMX | GO:0046777 | protein autophosphorylation | 1.29e-03 |
| BMX | GO:0035767 | endothelial cell chemotaxis | 1.41e-03 |
| BMX | GO:0002431 | Fc receptor mediated stimulatory signaling pathway | 1.41e-03 |
| BMX | GO:0031116 | positive regulation of microtubule polymerization | 1.41e-03 |
| BMX | GO:0038094 | Fc-gamma receptor signaling pathway | 1.45e-03 |
| BMX | GO:0050920 | regulation of chemotaxis | 1.60e-03 |
| BMX | GO:0031112 | positive regulation of microtubule polymerization or depolymerization | 1.60e-03 |
| BMX | GO:0006909 | phagocytosis | 1.64e-03 |
| BMX | GO:0018108 | peptidyl-tyrosine phosphorylation | 2.47e-03 |
| BMX | GO:0018212 | peptidyl-tyrosine modification | 2.47e-03 |
| BMX | GO:0045860 | positive regulation of protein kinase activity | 2.49e-03 |
| BMX | GO:0048013 | ephrin receptor signaling pathway | 2.74e-03 |
| BMX | GO:0038093 | Fc receptor signaling pathway | 3.21e-03 |
| BMX | GO:0002429 | immune response-activating cell surface receptor signaling pathway | 3.25e-03 |
| BMX | GO:0031113 | regulation of microtubule polymerization | 3.50e-03 |
| BMX | GO:0048010 | vascular endothelial growth factor receptor signaling pathway | 3.50e-03 |
| BMX | GO:0002768 | immune response-regulating cell surface receptor signaling pathway | 3.84e-03 |
| BMX | GO:0038034 | signal transduction in absence of ligand | 3.91e-03 |
| BMX | GO:0097192 | extrinsic apoptotic signaling pathway in absence of ligand | 3.91e-03 |
| BMX | GO:0031016 | pancreas development | 5.30e-03 |
| BMX | GO:0043254 | regulation of protein-containing complex assembly | 6.08e-03 |
| BMX | GO:0043406 | positive regulation of MAP kinase activity | 6.27e-03 |
| BMX | GO:0032273 | positive regulation of protein polymerization | 6.55e-03 |
| BMX | GO:0046785 | microtubule polymerization | 6.68e-03 |
| BMX | GO:0051492 | regulation of stress fiber assembly | 6.68e-03 |
| BMX | GO:0031110 | regulation of microtubule polymerization or depolymerization | 6.68e-03 |
| BMX | GO:0007015 | actin filament organization | 7.17e-03 |
| BMX | GO:0002757 | immune response-activating signaling pathway | 7.42e-03 |
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Related Drugs to BMX_ARHGAP12 |
| 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 BMX-ARHGAP12 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 BMX_ARHGAP12 |
| 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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