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Kinase Fusion Gene:MAK_SIPA1L3 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: MAK_SIPA1L3 | KinaseFusionDB ID: KFG3268 | FusionGDB2.0 ID: KFG3268 | Hgene | Tgene | Gene symbol | MAK | SIPA1L3 | Gene ID | 57538 | 23094 | |
| Gene name | alpha kinase 3 | signal induced proliferation associated 1 like 3 | ||||||||||
| Synonyms | CMH27|MAK|MIDORI | CTRCT45|SPAL3|SPAR3 | ||||||||||
| Cytomap | 15q25.3 | 19q13.13-q13.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | alpha-protein kinase 3muscle alpha-kinasemuscle alpha-protein kinasemyocyte induction differentiation originator | signal-induced proliferation-associated 1-like protein 3SIPA1-like protein 3SPA-1-like protein 3spine-associated RapGAP 3 | ||||||||||
| Modification date | 20240305 | 20240305 | ||||||||||
| UniProtAcc | Q96L96 | O60292 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000313243, ENST00000354489, ENST00000474039, ENST00000536370, ENST00000538030, | ENST00000222345, ENST00000476317, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MAK [Title/Abstract] AND SIPA1L3 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MAK(10772564)-SIPA1L3(38488206), # 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 |
| Tgene | SIPA1L3 | GO:0003382 | epithelial cell morphogenesis | 26231217 |
| Tgene | SIPA1L3 | GO:0090162 | establishment of epithelial cell polarity | 26231217 |
| Kinase Fusion gene breakpoints across MAK (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 SIPA1L3 (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 | BX095085 | MAK | chr6 | 10772564 | SIPA1L3 | chr19 | 38488206 |
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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/:10772564/:38488206) - 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 |
| MAK | SIPA1L3 |
| FUNCTION: Involved in cardiomyocyte differentiation. {ECO:0000305|PubMed:26846950, ECO:0000305|PubMed:27106955, ECO:0000305|PubMed:28630369, ECO:0000305|PubMed:30046096}. | FUNCTION: Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217). {ECO:0000269|PubMed:26231217}. |
| 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 MAK_SIPA1L3 |
| 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 |
| MAK | P20794 | human | MAK | P20794 | T157 | LRSQPPytDyVstRW | Pkinase |
| MAK | P20794 | human | MAK | P20794 | Y159 | SQPPytDyVstRWYR | 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 |
| MAK | ID | Description | 0.00e+00 |
| MAK | GO:1902855 | regulation of non-motile cilium assembly | 1.04e-02 |
| MAK | GO:1902018 | negative regulation of cilium assembly | 1.04e-02 |
| MAK | GO:0120033 | negative regulation of plasma membrane bounded cell projection assembly | 1.04e-02 |
| MAK | GO:0045494 | photoreceptor cell maintenance | 1.04e-02 |
| MAK | GO:1902116 | negative regulation of organelle assembly | 1.04e-02 |
| MAK | GO:0042073 | intraciliary transport | 1.04e-02 |
| MAK | GO:1905515 | non-motile cilium assembly | 1.13e-02 |
| MAK | GO:1902017 | regulation of cilium assembly | 1.13e-02 |
| MAK | GO:0001895 | retina homeostasis | 1.17e-02 |
| MAK | GO:0010970 | transport along microtubule | 1.54e-02 |
| MAK | GO:0031503 | protein-containing complex localization | 1.54e-02 |
| MAK | GO:0031345 | negative regulation of cell projection organization | 1.54e-02 |
| MAK | GO:0046777 | protein autophosphorylation | 1.54e-02 |
| MAK | GO:0120032 | regulation of plasma membrane bounded cell projection assembly | 1.54e-02 |
| MAK | GO:0060491 | regulation of cell projection assembly | 1.54e-02 |
| MAK | GO:0030705 | cytoskeleton-dependent intracellular transport | 1.54e-02 |
| MAK | GO:0099111 | microtubule-based transport | 1.54e-02 |
| MAK | GO:1902115 | regulation of organelle assembly | 1.54e-02 |
| MAK | GO:0001894 | tissue homeostasis | 1.77e-02 |
| MAK | GO:0060249 | anatomical structure homeostasis | 1.77e-02 |
| MAK | GO:0010639 | negative regulation of organelle organization | 2.19e-02 |
| MAK | GO:0060271 | cilium assembly | 2.19e-02 |
| MAK | GO:0044782 | cilium organization | 2.23e-02 |
| MAK | GO:0007018 | microtubule-based movement | 2.23e-02 |
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Related Drugs to MAK_SIPA1L3 |
| 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 MAK-SIPA1L3 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 MAK_SIPA1L3 |
| 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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