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Kinase Fusion Gene:MELK_BAMBI |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: MELK_BAMBI | KinaseFusionDB ID: KFG3767 | FusionGDB2.0 ID: KFG3767 | Hgene | Tgene | Gene symbol | MELK | BAMBI | Gene ID | 9833 | 25805 | |
Gene name | maternal embryonic leucine zipper kinase | BMP and activin membrane bound inhibitor | ||||||||||
Synonyms | HPK38 | NMA | ||||||||||
Cytomap | 9p13.2 | 10p12.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | maternal embryonic leucine zipper kinasepEg3 kinaseprotein kinase Eg3protein kinase PK38tyrosine-protein kinase MELK | BMP and activin membrane-bound inhibitor homolognon-metastatic gene A proteinputative transmembrane protein NMA | ||||||||||
Modification date | 20240403 | 20240305 | ||||||||||
UniProtAcc | Q14680 | Q13145 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000298048, ENST00000487398, ENST00000536329, ENST00000536860, ENST00000536987, ENST00000538311, ENST00000541717, ENST00000543751, ENST00000545008, | ENST00000375533, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MELK [Title/Abstract] AND BAMBI [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MELK(36595632)-BAMBI(28971858), # 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 | MELK | GO:0006915 | apoptotic process | 17280616 |
Hgene | MELK | GO:0008283 | cell population proliferation | 17280616 |
Hgene | MELK | GO:0046777 | protein autophosphorylation | 16216881 |
Tgene | BAMBI | GO:0016477 | cell migration | 19328798 |
Tgene | BAMBI | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 14660579 |
Tgene | BAMBI | GO:0045893 | positive regulation of DNA-templated transcription | 18838381 |
Tgene | BAMBI | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 18838381 |
Kinase Fusion gene breakpoints across MELK (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 BAMBI (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 | BI495549 | MELK | chr9 | 36595632 | BAMBI | chr10 | 28971858 |
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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/:36595632/:28971858) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MELK | BAMBI |
FUNCTION: Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis. {ECO:0000269|PubMed:11802789, ECO:0000269|PubMed:12400006, ECO:0000269|PubMed:14699119, ECO:0000269|PubMed:15908796, ECO:0000269|PubMed:16216881, ECO:0000269|PubMed:17280616}. | FUNCTION: Negatively regulates TGF-beta signaling. |
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 MELK_BAMBI |
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 |
MELK | Q14680 | human | CDC25B | P30305 | S169 | VLRNItNsQAPDGRR | M-inducer_phosp |
MELK | Q14680 | human | MELK | Q14680 | T539 | RGLDkVItVLtRsKR | |
MELK | Q14680 | human | MELK | Q14680 | T387 | DLSTGAAtPRTsQFT | |
MELK | Q14680 | human | MELK | Q14680 | T494 | TGtDkLMtGVIsPER | |
MELK | Q14680 | human | MELK | Q14680 | S431 | ENVytPKsAVkNEEy | |
MELK | Q14680 | human | MELK | Q14680 | T398 | sQFTkYWtEsNGVEs | |
MELK | Q14680 | human | MELK | Q14680 | T167 | NkDyHLQtCCGsLAY | Pkinase |
MELK | Q14680 | human | MELK | Q14680 | S171 | HLQtCCGsLAYAAPE | Pkinase |
MELK | Q14680 | human | CDC25B | P30305 | S323 | QRLFRsPsMPCsVIR | M-inducer_phosp |
MELK | Q14680 | human | MELK | Q14680 | S405 | tEsNGVEsksLtPAL | |
MELK | Q14680 | human | MELK | Q14680 | T409 | GVEsksLtPALCRtP | |
MELK | Q14680 | human | MELK | Q14680 | S356 | DIKSNNWsLEDVTAs | |
MELK | Q14680 | human | MELK | Q14680 | Y438 | sAVkNEEyFMFPEPK | |
MELK | Q14680 | human | MELK | Q14680 | S529 | KGAkVFGsLERGLDk | |
MELK | Q14680 | human | MELK | Q14680 | Y367 | VTAsDKNyVAGLIDY | |
MELK | Q14680 | human | EIF4B | P23588 | S406 | RPRERHPsWRsEEtQ | |
MELK | Q14680 | human | EZH2 | Q15910 | S220 | RPPRKFPsDKIFEAI | PRC2_HTH_1 |
MELK | Q14680 | human | MELK | Q14680 | S505 | sPERRCRsVELDLNQ | |
MELK | Q14680 | human | MELK | Q14680 | S407 | sNGVEsksLtPALCR | |
MELK | Q14680 | human | MELK | Q14680 | S336 | PVRLRLssFsCGQAs | |
MELK | Q14680 | human | MELK | Q14680 | S343 | sFsCGQAsAtPFtDI | |
MELK | Q14680 | human | MELK | Q14680 | S391 | GAAtPRTsQFTkYWt | |
MELK | Q14680 | human | EIF4B | P23588 | S422 | RERsRtGsEssQtGt | |
MELK | Q14680 | human | MELK | Q14680 | Y163 | kPKGNkDyHLQtCCG | Pkinase |
MELK | Q14680 | human | MELK | Q14680 | S253 | VDPKKRIsMkNLLNH | Pkinase |
MELK | Q14680 | human | MELK | Q14680 | T56 | sDLPRIktEIEALkN | Pkinase |
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 |
MELK | ID | Description | 0.00e+00 |
MELK | GO:0044772 | mitotic cell cycle phase transition | 1.12e-02 |
MELK | GO:1901989 | positive regulation of cell cycle phase transition | 1.84e-02 |
MELK | GO:0000086 | G2/M transition of mitotic cell cycle | 1.84e-02 |
MELK | GO:0044839 | cell cycle G2/M phase transition | 1.84e-02 |
MELK | GO:0090068 | positive regulation of cell cycle process | 3.69e-02 |
MELK | GO:0045787 | positive regulation of cell cycle | 3.69e-02 |
MELK | GO:1901990 | regulation of mitotic cell cycle phase transition | 3.69e-02 |
MELK | GO:1901993 | regulation of meiotic cell cycle phase transition | 3.69e-02 |
MELK | GO:0071236 | cellular response to antibiotic | 3.69e-02 |
MELK | GO:0007144 | female meiosis I | 3.69e-02 |
MELK | GO:0044771 | meiotic cell cycle phase transition | 3.69e-02 |
MELK | GO:0140719 | constitutive heterochromatin formation | 3.69e-02 |
MELK | GO:0045605 | negative regulation of epidermal cell differentiation | 3.69e-02 |
MELK | GO:0045683 | negative regulation of epidermis development | 3.69e-02 |
MELK | GO:1901987 | regulation of cell cycle phase transition | 3.69e-02 |
MELK | GO:0048385 | regulation of retinoic acid receptor signaling pathway | 3.69e-02 |
MELK | GO:1900006 | positive regulation of dendrite development | 3.69e-02 |
MELK | GO:0070314 | G1 to G0 transition | 4.12e-02 |
MELK | GO:0034244 | negative regulation of transcription elongation by RNA polymerase II | 4.12e-02 |
MELK | GO:0032785 | negative regulation of DNA-templated transcriptio | 4.87e-03 |
MELK | GO:0051446 | positive regulation of meiotic cell cycle | 4.29e-02 |
MELK | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle | 4.29e-02 |
MELK | GO:0097421 | liver regeneration | 4.29e-02 |
MELK | GO:0003299 | muscle hypertrophy in response to stress | 4.29e-02 |
MELK | GO:0014887 | cardiac muscle adaptation | 4.29e-02 |
MELK | GO:0014898 | cardiac muscle hypertrophy in response to stress | 4.29e-02 |
MELK | GO:0048384 | retinoic acid receptor signaling pathway | 4.29e-02 |
MELK | GO:1902751 | positive regulation of cell cycle G2/M phase transition | 4.29e-02 |
MELK | GO:0001556 | oocyte maturation | 4.29e-02 |
MELK | GO:0090183 | regulation of kidney development | 4.29e-02 |
MELK | GO:0046677 | response to antibiotic | 4.33e-02 |
MELK | GO:0007143 | female meiotic nuclear division | 4.33e-02 |
MELK | GO:0043403 | skeletal muscle tissue regeneration | 4.33e-02 |
MELK | GO:0045616 | regulation of keratinocyte differentiation | 4.33e-02 |
MELK | GO:0051154 | negative regulation of striated muscle cell differentiation | 4.33e-02 |
MELK | GO:1900016 | negative regulation of cytokine production involved in inflammatory response | 4.33e-02 |
MELK | GO:0140718 | facultative heterochromatin formation | 4.67e-02 |
MELK | GO:0032467 | positive regulation of cytokinesis | 4.67e-02 |
MELK | GO:0006305 | DNA alkylation | 4.67e-02 |
MELK | GO:0006306 | DNA methylation | 4.67e-02 |
MELK | GO:0021695 | cerebellar cortex development | 4.67e-02 |
MELK | GO:0014888 | striated muscle adaptation | 4.67e-02 |
MELK | GO:0030857 | negative regulation of epithelial cell differentiation | 4.67e-02 |
MELK | GO:0051932 | synaptic transmissio | 1.22e-02 |
MELK | GO:0071168 | protein localization to chromatin | 4.67e-02 |
MELK | GO:0045604 | regulation of epidermal cell differentiation | 4.67e-02 |
MELK | GO:0048599 | oocyte development | 4.67e-02 |
MELK | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | 4.67e-02 |
MELK | GO:0031100 | animal organ regeneration | 4.67e-02 |
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Related Drugs to MELK_BAMBI |
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 MELK-BAMBI 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 MELK_BAMBI |
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 |