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Kinase Fusion Gene:TFAP2A_MAK |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: TFAP2A_MAK | KinaseFusionDB ID: KFG6498 | FusionGDB2.0 ID: KFG6498 | Hgene | Tgene | Gene symbol | TFAP2A | MAK | Gene ID | 7020 | 57538 | |
| Gene name | transcription factor AP-2 alpha | alpha kinase 3 | ||||||||||
| Synonyms | AP-2|AP-2alpha|AP2TF|BOFS|TFAP2 | CMH27|MAK|MIDORI | ||||||||||
| Cytomap | 6p24.3 | 15q25.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | transcription factor AP-2-alphaAP-2 transcription factoractivating enhancer-binding protein 2-alphaactivator protein 2transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | alpha-protein kinase 3muscle alpha-kinasemuscle alpha-protein kinasemyocyte induction differentiation originator | ||||||||||
| Modification date | 20240317 | 20240305 | ||||||||||
| UniProtAcc | P05549 | Q96L96 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000319516, ENST00000379604, ENST00000379608, ENST00000379613, ENST00000482890, ENST00000497266, | ENST00000538030, ENST00000536370, ENST00000313243, ENST00000354489, ENST00000474039, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TFAP2A [Title/Abstract] AND MAK [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TFAP2A(10404741)-MAK(10764839), # samples:3 | |||||||||||
| 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 | TFAP2A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8321221|9520389|20066163 |
| Hgene | TFAP2A | GO:0008285 | negative regulation of cell population proliferation | 20607706 |
| Hgene | TFAP2A | GO:0030501 | positive regulation of bone mineralization | 19578371 |
| Hgene | TFAP2A | GO:0043066 | negative regulation of apoptotic process | 20066163 |
| Hgene | TFAP2A | GO:0043525 | positive regulation of neuron apoptotic process | 20607706 |
| Hgene | TFAP2A | GO:0045595 | regulation of cell differentiation | 20607706 |
| Hgene | TFAP2A | GO:0045892 | negative regulation of DNA-templated transcription | 20607706 |
| Hgene | TFAP2A | GO:0045893 | positive regulation of DNA-templated transcription | 12586840 |
| Hgene | TFAP2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7555706|7559606|11278550|20808827 |
| Hgene | TFAP2A | GO:0070172 | positive regulation of tooth mineralization | 19578371 |
| Hgene | TFAP2A | GO:0071281 | cellular response to iron ion | 20808827 |
| Hgene | TFAP2A | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 20066163 |
| Kinase Fusion gene breakpoints across TFAP2A (5'-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 breakpoints across MAK (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-AN-A0AR-01A | TFAP2A | chr6 | 10404741 | MAK | chr6 | 10764839 |
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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/chr6:10404741/chr6:10764839) - 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 |
| TFAP2A | MAK |
| FUNCTION: Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region. {ECO:0000269|PubMed:11694877, ECO:0000269|PubMed:12586840}. | FUNCTION: Involved in cardiomyocyte differentiation. {ECO:0000305|PubMed:26846950, ECO:0000305|PubMed:27106955, ECO:0000305|PubMed:28630369, ECO:0000305|PubMed:30046096}. |
| 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 TFAP2A_MAK |
| 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 TFAP2A_MAK |
| 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 TFAP2A-MAK 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 TFAP2A_MAK |
| 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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