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Kinase Fusion Gene:GAK_SLBP |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: GAK_SLBP | KinaseFusionDB ID: KFG2472 | FusionGDB2.0 ID: KFG2472 | Hgene | Tgene | Gene symbol | GAK | SLBP | Gene ID | 2580 | 7884 | |
| Gene name | cyclin G associated kinase | stem-loop histone mRNA binding protein | ||||||||||
| Synonyms | DNAJ26|DNAJC26 | HBP | ||||||||||
| Cytomap | 4p16.3 | 4p16.3 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | cyclin-G-associated kinaseauxilin-2 | histone RNA hairpin-binding proteinhairpin binding protein, histonehistone binding proteinhistone stem-loop binding proteinstem-loop (histone) binding proteinstem-loop binding protein | ||||||||||
| Modification date | 20240403 | 20240305 | ||||||||||
| UniProtAcc | O14976 | Q14493 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000314167, ENST00000511163, ENST00000509566, | ENST00000429429, ENST00000489418, ENST00000318386, ENST00000488267, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: GAK [Title/Abstract] AND SLBP [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | SLBP | GO:0002191 | cap-dependent translational initiation | 18025107 |
| Tgene | SLBP | GO:0051028 | mRNA transport | 19155325 |
| 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 SLBP (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 |
| CCLE | SUM-185PE | GAK | chr4 | 898425 | SLBP | chr4 | 1701797 |
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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/:/:) - 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 | SLBP |
| 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: RNA-binding protein involved in the histone pre-mRNA processing (PubMed:8957003, PubMed:9049306, PubMed:12588979, PubMed:19155325). Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE) (PubMed:8957003, PubMed:9049306, PubMed:12588979, PubMed:19155325). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery (PubMed:8957003, PubMed:9049306, PubMed:12588979, PubMed:19155325). Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expression (PubMed:8957003, PubMed:9049306, PubMed:12588979, PubMed:19155325). Involved in the mechanism by which growing oocytes accumulate histone proteins that support early embryogenesis (By similarity). Binds to the 5' side of the stem-loop structure of histone pre-mRNAs (By similarity). {ECO:0000250|UniProtKB:P97440, ECO:0000269|PubMed:12588979, ECO:0000269|PubMed:19155325, ECO:0000269|PubMed:8957003, ECO:0000269|PubMed:9049306}. |
| 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_SLBP |
| 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_SLBP |
| 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-SLBP 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_SLBP |
| 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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