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Kinase Fusion Gene:FAM53B_NUAK2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: FAM53B_NUAK2 | KinaseFusionDB ID: KFG2242 | FusionGDB2.0 ID: KFG2242 | Hgene | Tgene | Gene symbol | FAM53B | NUAK2 | Gene ID | 9679 | 81788 | |
| Gene name | family with sequence similarity 53 member B | NUAK family kinase 2 | ||||||||||
| Synonyms | KIAA0140|bA12J10.2|smp | ANPH2|SNARK | ||||||||||
| Cytomap | 10q26.13 | 1q32.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | protein FAM53Bprotein simpletsimplet homolog | NUAK family SNF1-like kinase 2NUAK family, SNF1-like kinase, 2SNF1/AMP activated protein kinaseSNF1/AMP kinase-related kinaseomphalocele kinase 2 | ||||||||||
| Modification date | 20240305 | 20240403 | ||||||||||
| UniProtAcc | Q14153 | Q9H093 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000280780, ENST00000337318, ENST00000392754, | ENST00000367157, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: FAM53B [Title/Abstract] AND NUAK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | FAM53B(126370176)-NUAK2(205277860), # 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 |
| Tgene | NUAK2 | GO:0006468 | protein phosphorylation | 14976552 |
| Tgene | NUAK2 | GO:0030036 | actin cytoskeleton organization | 14575707 |
| Tgene | NUAK2 | GO:0042149 | cellular response to glucose starvation | 14575707 |
| Tgene | NUAK2 | GO:0043066 | negative regulation of apoptotic process | 15345718 |
| Kinase Fusion gene breakpoints across FAM53B (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 NUAK2 (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-BR-6456-01A | FAM53B | chr10 | 126370176 | NUAK2 | chr1 | 205277860 |
| ChimerDB4 | TCGA-BR-6456 | FAM53B | chr10 | 126370175 | NUAK2 | chr1 | 205277860 |
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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/chr10:126370176/chr1:205277860) - 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 |
| FAM53B | NUAK2 |
| FUNCTION: Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization. {ECO:0000269|PubMed:25183871}. | FUNCTION: Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF-alpha, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Phosphorylates LATS1 and LATS2. Plays a key role in neural tube closure during embryonic development through LATS2 phosphorylation and regulation of the nuclear localization of YAP1 a critical downstream regulatory target in the Hippo signaling pathway (PubMed:32845958). {ECO:0000269|PubMed:14575707, ECO:0000269|PubMed:14976552, ECO:0000269|PubMed:15345718, ECO:0000269|PubMed:19927127, ECO:0000269|PubMed:32845958}. |
| 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 FAM53B_NUAK2 |
| 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 |
| NUAK2 | Q9H093 | human | LATS1 | O95835 | S464 | NIPVRsNsFNNPLGN |
| 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 |
| NUAK2 | ID | Description | 0.00e+00 |
| NUAK2 | GO:0060644 | mammary gland epithelial cell differentiation | 2.33e-02 |
| NUAK2 | GO:0051220 | cytoplasmic sequestering of protein | 2.33e-02 |
| NUAK2 | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 2.33e-02 |
| NUAK2 | GO:1904030 | negative regulation of cyclin-dependent protein kinase activity | 2.33e-02 |
| NUAK2 | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway | 2.33e-02 |
| NUAK2 | GO:1900181 | negative regulation of protein localization to nucleus | 2.33e-02 |
| NUAK2 | GO:0035329 | hippo signaling | 2.33e-02 |
| NUAK2 | GO:0001825 | blastocyst formation | 2.33e-02 |
| NUAK2 | GO:0030520 | intracellular estrogen receptor signaling pathway | 2.33e-02 |
| NUAK2 | GO:0061180 | mammary gland epithelium development | 2.33e-02 |
| NUAK2 | GO:0033143 | regulation of intracellular steroid hormone receptor signaling pathway | 2.33e-02 |
| NUAK2 | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | 2.33e-02 |
| NUAK2 | GO:1904029 | regulation of cyclin-dependent protein kinase activity | 2.33e-02 |
| NUAK2 | GO:0045185 | maintenance of protein location | 2.33e-02 |
| NUAK2 | GO:0046620 | regulation of organ growth | 2.33e-02 |
| NUAK2 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 2.33e-02 |
| NUAK2 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 2.33e-02 |
| NUAK2 | GO:0001824 | blastocyst development | 2.33e-02 |
| NUAK2 | GO:0030518 | intracellular steroid hormone receptor signaling pathway | 2.33e-02 |
| NUAK2 | GO:0030879 | mammary gland development | 2.33e-02 |
| NUAK2 | GO:0030833 | regulation of actin filament polymerization | 2.33e-02 |
| NUAK2 | GO:0033135 | regulation of peptidyl-serine phosphorylation | 2.33e-02 |
| NUAK2 | GO:0043401 | steroid hormone mediated signaling pathway | 2.33e-02 |
| NUAK2 | GO:0000086 | G2/M transition of mitotic cell cycle | 2.33e-02 |
| NUAK2 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 2.33e-02 |
| NUAK2 | GO:1900180 | regulation of protein localization to nucleus | 2.33e-02 |
| NUAK2 | GO:0008064 | regulation of actin polymerization or depolymerization | 2.33e-02 |
| NUAK2 | GO:0044839 | cell cycle G2/M phase transition | 2.33e-02 |
| NUAK2 | GO:0030832 | regulation of actin filament length | 2.33e-02 |
| NUAK2 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 2.33e-02 |
| NUAK2 | GO:1903844 | regulation of cellular response to transforming growth factor beta stimulus | 2.33e-02 |
| NUAK2 | GO:0030041 | actin filament polymerization | 2.33e-02 |
| NUAK2 | GO:0030178 | negative regulation of Wnt signaling pathway | 2.33e-02 |
| NUAK2 | GO:0030216 | keratinocyte differentiation | 2.33e-02 |
| NUAK2 | GO:0035265 | organ growth | 2.33e-02 |
| NUAK2 | GO:2000058 | regulation of ubiquitin-dependent protein catabolic process | 2.33e-02 |
| NUAK2 | GO:0006469 | negative regulation of protein kinase activity | 2.33e-02 |
| NUAK2 | GO:0009755 | hormone-mediated signaling pathway | 2.33e-02 |
| NUAK2 | GO:0033673 | negative regulation of kinase activity | 2.33e-02 |
| NUAK2 | GO:0008154 | actin polymerization or depolymerization | 2.33e-02 |
| NUAK2 | GO:0032271 | regulation of protein polymerization | 2.33e-02 |
| NUAK2 | GO:0071383 | cellular response to steroid hormone stimulus | 2.33e-02 |
| NUAK2 | GO:1903828 | negative regulation of protein localization | 2.33e-02 |
| NUAK2 | GO:0000819 | sister chromatid segregation | 2.33e-02 |
| NUAK2 | GO:0051348 | negative regulation of transferase activity | 2.33e-02 |
| NUAK2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 2.33e-02 |
| NUAK2 | GO:1903050 | regulation of proteolysis involved in protein catabolic process | 2.33e-02 |
| NUAK2 | GO:0009913 | epidermal cell differentiation | 2.33e-02 |
| NUAK2 | GO:0000082 | G1/S transition of mitotic cell cycle | 2.33e-02 |
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Related Drugs to FAM53B_NUAK2 |
| 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 FAM53B-NUAK2 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 FAM53B_NUAK2 |
| 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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