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Kinase Fusion Gene:GAK_GET4 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: GAK_GET4 | KinaseFusionDB ID: KFG2464 | FusionGDB2.0 ID: KFG2464 | Hgene | Tgene | Gene symbol | GAK | GET4 | Gene ID | 2580 | 51608 | |
| Gene name | cyclin G associated kinase | guided entry of tail-anchored proteins factor 4 | ||||||||||
| Synonyms | DNAJ26|DNAJC26 | C7orf20|CDG2Y|CEE|CGI-20|TRC35 | ||||||||||
| Cytomap | 4p16.3 | 7p22.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | cyclin-G-associated kinaseauxilin-2 | Golgi to ER traffic protein 4 homologH_NH1244M04.5conserved edge expressed proteinconserved edge proteingolgi to ER traffic protein 4transmembrane domain recognition complex 35 kDa subunittransmembrane domain recognition complex, 35kDa | ||||||||||
| Modification date | 20240403 | 20240305 | ||||||||||
| UniProtAcc | O14976 | Q7L5D6 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000314167, ENST00000509566, ENST00000511163, | ENST00000407192, ENST00000265857, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: GAK [Title/Abstract] AND GET4 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | GAK(905460)-GET4(925692), # 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 | GAK | GO:0010977 | negative regulation of neuron projection development | 24510904 |
| Tgene | GET4 | GO:0006511 | ubiquitin-dependent protein catabolic process | 20676083 |
| Tgene | GET4 | GO:0006620 | post-translational protein targeting to endoplasmic reticulum membrane | 25535373 |
| Tgene | GET4 | GO:0031647 | regulation of protein stability | 21636303 |
| Tgene | GET4 | GO:0071816 | tail-anchored membrane protein insertion into ER membrane | 25535373 |
| Kinase Fusion gene breakpoints across GAK (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 GET4 (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 | NT15 | GAK | chr4 | 905460 | GET4 | chr7 | 925692 |
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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/:905460/:925692) - 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 |
| GAK | GET4 |
| FUNCTION: Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1. {ECO:0000269|PubMed:10625686}. | FUNCTION: As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892, PubMed:32395830). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:28104892, PubMed:25535373). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). {ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:21743475, ECO:0000269|PubMed:25535373, ECO:0000269|PubMed:28104892, ECO:0000269|PubMed:32395830}. |
| 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 GAK_GET4 |
| 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 |
| GAK | O14976 | human | TP63 | Q9H3D4 | T46 | TMSQsTQtNEFLsPE | |
| GAK | O14976 | human | CLTC | Q00610 | T606 | ILGNQMFtHYDRAHI | Clathrin |
| GAK | O14976 | human | TP63 | Q9H3D4 | T281 | QYVEDPItGRQSVLV | P53 |
| 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 |
| GAK | ID | Description | 0.00e+00 |
| GAK | GO:0001649 | osteoblast differentiation | 1.54e-02 |
| GAK | GO:0001503 | ossification | 1.54e-02 |
| GAK | GO:0033572 | transferrin transport | 1.54e-02 |
| GAK | GO:0060525 | prostate glandular acinus development | 1.54e-02 |
| GAK | GO:2000271 | positive regulation of fibroblast apoptotic process | 1.54e-02 |
| GAK | GO:0060601 | lateral sprouting from an epithelium | 1.54e-02 |
| GAK | GO:0060742 | epithelial cell differentiation involved in prostate gland development | 1.54e-02 |
| GAK | GO:0035112 | genitalia morphogenesis | 1.54e-02 |
| GAK | GO:0043589 | skin morphogenesis | 1.54e-02 |
| GAK | GO:1904672 | regulation of somatic stem cell population maintenance | 1.54e-02 |
| GAK | GO:0030213 | hyaluronan biosynthetic process | 1.54e-02 |
| GAK | GO:0045605 | negative regulation of epidermal cell differentiation | 1.54e-02 |
| GAK | GO:0045683 | negative regulation of epidermis development | 1.54e-02 |
| GAK | GO:0010838 | positive regulation of keratinocyte proliferation | 1.54e-02 |
| GAK | GO:0033147 | negative regulation of intracellular estrogen receptor signaling pathway | 1.54e-02 |
| GAK | GO:0060572 | morphogenesis of an epithelial bud | 1.54e-02 |
| GAK | GO:0048268 | clathrin coat assembly | 1.54e-02 |
| GAK | GO:0030540 | female genitalia development | 1.54e-02 |
| GAK | GO:0036342 | post-anal tail morphogenesis | 1.54e-02 |
| GAK | GO:0045056 | transcytosis | 1.54e-02 |
| GAK | GO:2000269 | regulation of fibroblast apoptotic process | 1.54e-02 |
| GAK | GO:0048485 | sympathetic nervous system development | 1.54e-02 |
| GAK | GO:0060571 | morphogenesis of an epithelial fold | 1.54e-02 |
| GAK | GO:0030859 | polarized epithelial cell differentiation | 1.54e-02 |
| GAK | GO:0044346 | fibroblast apoptotic process | 1.54e-02 |
| GAK | GO:0060740 | prostate gland epithelium morphogenesis | 1.54e-02 |
| GAK | GO:0035116 | embryonic hindlimb morphogenesis | 1.54e-02 |
| GAK | GO:0060512 | prostate gland morphogenesis | 1.54e-02 |
| GAK | GO:1903077 | negative regulation of protein localization to plasma membrane | 1.54e-02 |
| GAK | GO:1904376 | negative regulation of protein localization to cell periphery | 1.54e-02 |
| GAK | GO:0031069 | hair follicle morphogenesis | 1.54e-02 |
| GAK | GO:0035115 | embryonic forelimb morphogenesis | 1.54e-02 |
| GAK | GO:0061436 | establishment of skin barrier | 1.54e-02 |
| GAK | GO:0009954 | proximal/distal pattern formation | 1.54e-02 |
| GAK | GO:0030212 | hyaluronan metabolic process | 1.54e-02 |
| GAK | GO:0008340 | determination of adult lifespan | 1.54e-02 |
| GAK | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway | 1.54e-02 |
| GAK | GO:0035137 | hindlimb morphogenesis | 1.54e-02 |
| GAK | GO:0033144 | negative regulation of intracellular steroid hormone receptor signaling pathway | 1.54e-02 |
| GAK | GO:0048730 | epidermis morphogenesis | 1.54e-02 |
| GAK | GO:1905476 | negative regulation of protein localization to membrane | 1.54e-02 |
| GAK | GO:0032885 | regulation of polysaccharide biosynthetic process | 1.54e-02 |
| GAK | GO:0097242 | amyloid-beta clearance | 1.54e-02 |
| GAK | GO:0045616 | regulation of keratinocyte differentiation | 1.54e-02 |
| GAK | GO:0035136 | forelimb morphogenesis | 1.54e-02 |
| GAK | GO:0060236 | regulation of mitotic spindle organization | 1.54e-02 |
| GAK | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 1.54e-02 |
| GAK | GO:0032881 | regulation of polysaccharide metabolic process | 1.54e-02 |
| GAK | GO:0048483 | autonomic nervous system development | 1.54e-02 |
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Related Drugs to GAK_GET4 |
| 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 GAK-GET4 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 GAK_GET4 |
| 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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