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Kinase Fusion Gene:TONSL_ADCK5 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: TONSL_ADCK5 | KinaseFusionDB ID: KFG6682 | FusionGDB2.0 ID: KFG6682 | Hgene | Tgene | Gene symbol | TONSL | ADCK5 | Gene ID | 4796 | 203054 | |
| Gene name | tonsoku like, DNA repair protein | aarF domain containing kinase 5 | ||||||||||
| Synonyms | IKBR|NFKBIL2|SEMDSP | - | ||||||||||
| Cytomap | 8q24.3 | 8q24.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | tonsoku-like proteinI-kappa-B-related proteinNF-kappa-B inhibitor-like protein 2ikappaBRinhibitor of kappa B-related proteinnuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2 | uncharacterized aarF domain-containing protein kinase 5 | ||||||||||
| Modification date | 20240403 | 20240305 | ||||||||||
| UniProtAcc | Q96HA7 | Q3MIX3 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000409379, | ENST00000308860, ENST00000526231, ENST00000532190, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TONSL [Title/Abstract] AND ADCK5 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TONSL(145654159)-ADCK5(145609101), # 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 | TONSL | GO:0000724 | double-strand break repair via homologous recombination | 27338793|27797818 |
| Hgene | TONSL | GO:0031297 | replication fork processing | 27338793|29478807 |
| Hgene | TONSL | GO:0071168 | protein localization to chromatin | 27338793 |
| Kinase Fusion gene breakpoints across TONSL (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 ADCK5 (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 | BI862385 | TONSL | chr8 | 145654159 | ADCK5 | chr8 | 145609101 |
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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/:145654159/:145609101) - 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 |
| TONSL | ADCK5 |
| FUNCTION: Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:21113133, PubMed:26527279, PubMed:27797818, PubMed:29478807, PubMed:27338793, PubMed:30773278). The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication (PubMed:21055983, PubMed:21055984, PubMed:21055985). It mediates the assembly of RAD51 filaments on single-stranded DNA (ssDNA): the MMS22L-TONSL complex is recruited to DSBs following histone replacement by histone chaperones and eviction of the replication protein A complex (RPA/RP-A) from DSBs (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:27797818, PubMed:29478807). Following recruitment to DSBs, the TONSL-MMS22L complex promotes recruitment of RAD51 filaments and subsequent homologous recombination (PubMed:27797818, PubMed:29478807). Within the complex, TONSL acts as a histone reader, which recognizes and binds newly synthesized histones following their replacement by histone chaperones (PubMed:29478807, PubMed:27338793). Specifically binds histone H4 lacking methylation at 'Lys-20' (H4K20me0) and histone H3.1 (PubMed:27338793). {ECO:0000269|PubMed:21055983, ECO:0000269|PubMed:21055984, ECO:0000269|PubMed:21055985, ECO:0000269|PubMed:21113133, ECO:0000269|PubMed:26527279, ECO:0000269|PubMed:27338793, ECO:0000269|PubMed:27797818, ECO:0000269|PubMed:29478807, ECO:0000269|PubMed:30773278}. | FUNCTION: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). |
| 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 TONSL_ADCK5 |
| 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 |
| ADCK5 | Q3MIX3 | human | SOX9 | P48436 | S181 | YQPRRRKsVKNGQAE |
| 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 |
| ADCK5 | ID | Description | 0.00e+00 |
| ADCK5 | GO:0003418 | growth plate cartilage chondrocyte differentiation | 7.14e-03 |
| ADCK5 | GO:0048865 | stem cell fate commitment | 7.14e-03 |
| ADCK5 | GO:0060502 | epithelial cell proliferation involved in lung morphogenesis | 7.14e-03 |
| ADCK5 | GO:0071600 | otic vesicle morphogenesis | 7.14e-03 |
| ADCK5 | GO:0090184 | positive regulation of kidney development | 7.14e-03 |
| ADCK5 | GO:0060433 | bronchus development | 7.14e-03 |
| ADCK5 | GO:0060736 | prostate gland growth | 7.14e-03 |
| ADCK5 | GO:0060767 | epithelial cell proliferation involved in prostate gland development | 7.14e-03 |
| ADCK5 | GO:0072173 | metanephric tubule morphogenesis | 7.14e-03 |
| ADCK5 | GO:2001054 | negative regulation of mesenchymal cell apoptotic process | 7.14e-03 |
| ADCK5 | GO:0072497 | mesenchymal stem cell differentiation | 7.14e-03 |
| ADCK5 | GO:1901203 | positive regulation of extracellular matrix assembly | 7.14e-03 |
| ADCK5 | GO:0021781 | glial cell fate commitment | 7.14e-03 |
| ADCK5 | GO:1905939 | regulation of gonad development | 7.14e-03 |
| ADCK5 | GO:0030238 | male sex determination | 7.14e-03 |
| ADCK5 | GO:0046322 | negative regulation of fatty acid oxidation | 7.14e-03 |
| ADCK5 | GO:2001053 | regulation of mesenchymal cell apoptotic process | 7.14e-03 |
| ADCK5 | GO:0003413 | chondrocyte differentiation involved in endochondral bone morphogenesis | 7.14e-03 |
| ADCK5 | GO:0014029 | neural crest formation | 7.14e-03 |
| ADCK5 | GO:0060009 | Sertoli cell development | 7.14e-03 |
| ADCK5 | GO:0060221 | retinal rod cell differentiation | 7.14e-03 |
| ADCK5 | GO:0071599 | otic vesicle development | 7.14e-03 |
| ADCK5 | GO:0003188 | heart valve formation | 7.14e-03 |
| ADCK5 | GO:0097152 | mesenchymal cell apoptotic process | 7.14e-03 |
| ADCK5 | GO:0072077 | renal vesicle morphogenesis | 7.14e-03 |
| ADCK5 | GO:2000136 | regulation of cell proliferation involved in heart morphogenesis | 7.14e-03 |
| ADCK5 | GO:0061323 | cell proliferation involved in heart morphogenesis | 7.14e-03 |
| ADCK5 | GO:0072087 | renal vesicle development | 7.14e-03 |
| ADCK5 | GO:0072189 | ureter development | 7.14e-03 |
| ADCK5 | GO:0090190 | positive regulation of branching involved in ureteric bud morphogenesis | 7.14e-03 |
| ADCK5 | GO:0001502 | cartilage condensation | 7.14e-03 |
| ADCK5 | GO:0030903 | notochord development | 7.14e-03 |
| ADCK5 | GO:0060438 | trachea development | 7.14e-03 |
| ADCK5 | GO:0060602 | branch elongation of an epithelium | 7.14e-03 |
| ADCK5 | GO:0003417 | growth plate cartilage development | 7.14e-03 |
| ADCK5 | GO:0032332 | positive regulation of chondrocyte differentiation | 7.14e-03 |
| ADCK5 | GO:0072079 | nephron tubule formation | 7.14e-03 |
| ADCK5 | GO:0030502 | negative regulation of bone mineralization | 7.14e-03 |
| ADCK5 | GO:0090189 | regulation of branching involved in ureteric bud morphogenesis | 7.14e-03 |
| ADCK5 | GO:1901201 | regulation of extracellular matrix assembly | 7.14e-03 |
| ADCK5 | GO:2000738 | positive regulation of stem cell differentiation | 7.14e-03 |
| ADCK5 | GO:0007530 | sex determination | 7.14e-03 |
| ADCK5 | GO:0060008 | Sertoli cell differentiation | 7.14e-03 |
| ADCK5 | GO:0072234 | metanephric nephron tubule development | 7.14e-03 |
| ADCK5 | GO:0098743 | cell aggregation | 7.14e-03 |
| ADCK5 | GO:0030277 | maintenance of gastrointestinal epithelium | 7.14e-03 |
| ADCK5 | GO:0072273 | metanephric nephron morphogenesis | 7.14e-03 |
| ADCK5 | GO:0090103 | cochlea morphogenesis | 7.14e-03 |
| ADCK5 | GO:0002053 | positive regulation of mesenchymal cell proliferation | 7.14e-03 |
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Related Drugs to TONSL_ADCK5 |
| 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 TONSL-ADCK5 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 TONSL_ADCK5 |
| 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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