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Kinase Fusion Gene:CDKL5_SUV39H1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CDKL5_SUV39H1 | KinaseFusionDB ID: KFG1231 | FusionGDB2.0 ID: KFG1231 | Hgene | Tgene | Gene symbol | CDKL5 | SUV39H1 | Gene ID | 6792 | 6839 | |
| Gene name | cyclin dependent kinase like 5 | SUV39H1 histone lysine methyltransferase | ||||||||||
| Synonyms | CFAP247|DEE2|EIEE2|ISSX|STK9 | H3-K9-HMTase 1|KMT1A|MG44|SUV39H | ||||||||||
| Cytomap | Xp22.13 | Xp11.23 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | cyclin-dependent kinase-like 5cyclin dependent kinase 5 transcriptserine/threonine kinase 9serine/threonine-protein kinase 9 | histone-lysine N-methyltransferase SUV39H1Su(var)3-9 homolog 1histone H3-K9 methyltransferase 1histone-lysine N-methyltransferase, H3 lysine-9 specific 1lysine N-methyltransferase 1Aposition-effect variegation 3-9 homologsuppressor of variegation 3- | ||||||||||
| Modification date | 20240415 | 20240416 | ||||||||||
| UniProtAcc | O76039 | O43463 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000379996, ENST00000379989, ENST00000463994, | ENST00000337852, ENST00000376687, ENST00000453214, ENST00000482260, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CDKL5 [Title/Abstract] AND SUV39H1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CDKL5(18443815)-SUV39H1(48564656), # samples:2 | |||||||||||
| 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 | CDKL5 | GO:0046777 | protein autophosphorylation | 16935860 |
| Hgene | CDKL5 | GO:0050804 | modulation of chemical synaptic transmission | 22922712 |
| Hgene | CDKL5 | GO:0099175 | regulation of postsynapse organization | 22922712 |
| Tgene | SUV39H1 | GO:0000183 | rDNA heterochromatin formation | 18485871 |
| Tgene | SUV39H1 | GO:0006974 | DNA damage response | 23509280 |
| Tgene | SUV39H1 | GO:0044725 | epigenetic programming in the zygotic pronuclei | 30111536 |
| Tgene | SUV39H1 | GO:0071456 | cellular response to hypoxia | 21402781 |
| Kinase Fusion gene breakpoints across CDKL5 (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 SUV39H1 (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 |
| ChimerDB4 | TCGA-CG-4437-01A | CDKL5 | chrX | 18443815 | SUV39H1 | chrX | 48564656 |
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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/:18443815/:48564656) - 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 |
| CDKL5 | SUV39H1 |
| FUNCTION: Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175). {ECO:0000269|PubMed:15917271, ECO:0000269|PubMed:16935860, ECO:0000269|PubMed:29420175}. | FUNCTION: Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 using monomethylated H3 'Lys-9' as substrate. Also weakly methylates histone H1 (in vitro). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats. SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length. Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation. {ECO:0000269|PubMed:14765126, ECO:0000269|PubMed:16449642, ECO:0000269|PubMed:16818776, ECO:0000269|PubMed:16858404, ECO:0000269|PubMed:18004385, ECO:0000269|PubMed:18485871, ECO:0000269|PubMed:30111536}.; FUNCTION: (Microbial infection) Plays a role in defense against mycobacterial infections. Methylates M.tuberculosis HupB on 'Lys-140', probably methylates HupB of M.bovis also. Methylation has an inhibitory effect on mycobacterial growth in the host. Macrophages expressing about 60% SUV39H1 are slightly more susceptible to M.bovis or M.tuberculosis infection. Chaetocin (an inhibitor of this enzyme) increases macrophage survival of M.tuberculosis. This protein inhibits biofilm formation by M.tuberculosis via 'Lys-140' trimethylation. {ECO:0000269|PubMed:29170282}. |
| 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 CDKL5_SUV39H1 |
| 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 |
| CDKL5 | O76039 | human | TNRC18 | O15417 | S660 | RDPERPEsAkAFGRE | |
| CDKL5 | O76039 | human | MPLKIP | Q8TAP9 | S40 | GGGPrPPsPrDGyGs | |
| CDKL5 | O76039 | human | LRRC4C | Q9HCJ2 | S631 | PLLIRMNsKDNVQET | |
| CDKL5 | O76039 | human | MAPRE2 | Q15555 | S223 | stPsRPssAkRASSS | |
| CDKL5 | O76039 | human | PPP1R26 | Q5T8A7 | T606 | GGHVRPStPKKMQEV | PPP1R26_N |
| CDKL5 | O76039 | human | ELOA | Q14241 | S285 | EENRRPPsGDNAREK | |
| CDKL5 | O76039 | human | HNRNPF | P52597 | T215 | GPyDrPGtArryIGI | |
| CDKL5 | O76039 | human | ZC3H14 | Q6PJT7 | T734 | LkWIRPQtsE_____ | |
| CDKL5 | O76039 | human | RPL13 | P26373 | S52 | RIAPRPAsGPIRPIV | Ribosomal_L13e |
| CDKL5 | O76039 | human | CEP131 | Q9UPN4 | S35 | PVSRRPGsAATTkPI | |
| CDKL5 | O76039 | human | PHF23 | Q9BUL5 | S400 | RLGGPPKsGEP____ | |
| CDKL5 | O76039 | human | ZKSCAN8 | Q15776 | S141 | DILGRPVsARVHGHR | |
| CDKL5 | O76039 | human | YLPM1 | P49750 | S1089 | GLVrPGssREKVPGG | |
| CDKL5 | O76039 | human | VIRMA | Q69YN4 | S1759 | LPPLRPLsSTGYRPs | |
| CDKL5 | O76039 | human | CDKL5 | O76039 | Y171 | NNANytEyVATRWYR | Pkinase |
| CDKL5 | O76039 | human | YLPM1 | P49750 | S1088 | rGLVrPGssREKVPG | |
| CDKL5 | O76039 | human | RBMX | P38159 | S261 | DyPsrGysDrDGyGR | |
| CDKL5 | O76039 | human | ZNF592 | Q92610 | S1100 | NHLKRPVsGVGDAPG | |
| CDKL5 | O76039 | human | MAP1S | Q66K74 | S900 | DrAsRPLsARsEPsE | |
| CDKL5 | O76039 | human | CDKL5 | O76039 | T169 | EGNNANytEyVATRW | Pkinase |
| CDKL5 | O76039 | human | MAP1A | P78559 | S900 | GtIsPtssLEEDKGF | |
| CDKL5 | O76039 | human | DLG5 | Q8TDM6 | S1115 | QKRRRPKsAPSFRPK | |
| CDKL5 | O76039 | human | SMTN | P53814 | S139 | LYSGRPNsGSREDSK | |
| CDKL5 | O76039 | human | CLSPN | Q9HAW4 | S1246 | FEAIRPGsAQQVKTG | |
| CDKL5 | O76039 | human | TCOF1 | Q13428 | S801 | PAAARAPsAKGtISA | Treacle |
| CDKL5 | O76039 | human | EP400 | Q96L91 | S729 | sPVNRPssAtNkALs |
| 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 |
| CDKL5 | ID | Description | 0.00e+00 |
| CDKL5 | GO:0072698 | protein localization to microtubule cytoskeleton | 8.83e-03 |
| CDKL5 | GO:0044380 | protein localization to cytoskeleton | 8.83e-03 |
| CDKL5 | GO:0098840 | protein transport along microtubule | 1.13e-02 |
| CDKL5 | GO:0099118 | microtubule-based protein transport | 1.13e-02 |
| CDKL5 | GO:0016358 | dendrite development | 1.13e-02 |
| CDKL5 | GO:0031110 | regulation of microtubule polymerization or depolymerization | 1.13e-02 |
| CDKL5 | GO:0032886 | regulation of microtubule-based process | 1.13e-02 |
| CDKL5 | GO:0035372 | protein localization to microtubule | 1.13e-02 |
| CDKL5 | GO:0050686 | negative regulation of mRNA processing | 1.57e-02 |
| CDKL5 | GO:0043244 | regulation of protein-containing complex disassembly | 1.57e-02 |
| CDKL5 | GO:0031109 | microtubule polymerization or depolymerization | 1.83e-02 |
| CDKL5 | GO:0031114 | regulation of microtubule depolymerization | 1.90e-02 |
| CDKL5 | GO:0070507 | regulation of microtubule cytoskeleton organization | 2.64e-02 |
| CDKL5 | GO:0060999 | positive regulation of dendritic spine development | 2.76e-02 |
| CDKL5 | GO:0010970 | transport along microtubule | 2.82e-02 |
| CDKL5 | GO:0007019 | microtubule depolymerization | 3.21e-02 |
| CDKL5 | GO:0007409 | axonogenesis | 3.91e-02 |
| CDKL5 | GO:0030705 | cytoskeleton-dependent intracellular transport | 3.91e-02 |
| CDKL5 | GO:0099111 | microtubule-based transport | 3.91e-02 |
| CDKL5 | GO:0031124 | mRNA 3'-end processing | 3.91e-02 |
| CDKL5 | GO:0060998 | regulation of dendritic spine development | 3.91e-02 |
| CDKL5 | GO:0022411 | cellular component disassembly | 4.47e-02 |
| CDKL5 | GO:0032984 | protein-containing complex disassembly | 4.97e-02 |
| CDKL5 | GO:1901879 | regulation of protein depolymerization | 7.67e-02 |
| CDKL5 | GO:0060996 | dendritic spine development | 8.94e-02 |
| CDKL5 | GO:1903312 | negative regulation of mRNA metabolic process | 9.31e-02 |
| CDKL5 | GO:0031123 | RNA 3'-end processing | 9.50e-02 |
| CDKL5 | GO:1902414 | protein localization to cell junction | 1.02e-01 |
| CDKL5 | GO:0051261 | protein depolymerization | 1.12e-01 |
| CDKL5 | GO:0001578 | microtubule bundle formation | 1.27e-01 |
| CDKL5 | GO:0050684 | regulation of mRNA processing | 1.30e-01 |
| CDKL5 | GO:0033314 | mitotic DNA replication checkpoint signaling | 1.37e-01 |
| CDKL5 | GO:0035332 | positive regulation of hippo signaling | 1.37e-01 |
| CDKL5 | GO:0072205 | metanephric collecting duct development | 1.37e-01 |
| CDKL5 | GO:0007018 | microtubule-based movement | 1.37e-01 |
| CDKL5 | GO:1905383 | protein localization to presynapse | 1.37e-01 |
| CDKL5 | GO:0031440 | regulation of mRNA 3'-end processing | 1.37e-01 |
| CDKL5 | GO:0034454 | microtubule anchoring at centrosome | 1.37e-01 |
| CDKL5 | GO:0051549 | positive regulation of keratinocyte migration | 1.37e-01 |
| CDKL5 | GO:1990535 | neuron projection maintenance | 1.37e-01 |
| CDKL5 | GO:0050770 | regulation of axonogenesis | 1.37e-01 |
| CDKL5 | GO:0034333 | adherens junction assembly | 1.37e-01 |
| CDKL5 | GO:0035331 | negative regulation of hippo signaling | 1.37e-01 |
| CDKL5 | GO:1902902 | negative regulation of autophagosome assembly | 1.37e-01 |
| CDKL5 | GO:0043967 | histone H4 acetylation | 1.37e-01 |
| CDKL5 | GO:0051547 | regulation of keratinocyte migration | 1.37e-01 |
| CDKL5 | GO:0072393 | microtubule anchoring at microtubule organizing center | 1.37e-01 |
| CDKL5 | GO:0014029 | neural crest formation | 1.37e-01 |
| CDKL5 | GO:0045176 | apical protein localization | 1.37e-01 |
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Related Drugs to CDKL5_SUV39H1 |
| 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 CDKL5-SUV39H1 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 CDKL5_SUV39H1 |
| 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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