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Kinase Fusion Gene:ALKBH5_KIT |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ALKBH5_KIT | KinaseFusionDB ID: KFG317 | FusionGDB2.0 ID: KFG317 | Hgene | Tgene | Gene symbol | ALKBH5 | KIT | Gene ID | 54890 | 3815 | |
| Gene name | alkB homolog 5, RNA demethylase | KIT proto-oncogene, receptor tyrosine kinase | ||||||||||
| Synonyms | ABH5|OFOXD|OFOXD1 | C-Kit|CD117|MASTC|PBT|SCFR | ||||||||||
| Cytomap | 17p11.2|17p11.2 | 4q12 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | RNA demethylase ALKBH5AlkB family member 5, RNA demethylasealkB, alkylation repair homolog 5alkylated DNA repair protein alkB homolog 5alpha-ketoglutarate-dependent dioxygenase alkB homolog 5oxoglutarate and iron-dependent oxygenase domain containing | mast/stem cell growth factor receptor Kitc-Kit protooncogenep145 c-kitpiebald trait proteinproto-oncogene c-Kitproto-oncogene tyrosine-protein kinase Kittyrosine-protein kinase Kitv-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homologv-kit | ||||||||||
| Modification date | 20240411 | 20240413 | ||||||||||
| UniProtAcc | Q6P6C2 | P10721 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000399138, ENST00000541285, | ENST00000288135, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ALKBH5 [Title/Abstract] AND KIT [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ALKBH5(18085751)-KIT(55560427), # 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 | ALKBH5 | GO:0001666 | response to hypoxia | 21264265 |
| Hgene | ALKBH5 | GO:0006417 | regulation of translation | 36944332 |
| Hgene | ALKBH5 | GO:0061157 | mRNA destabilization | 34048572|37257451 |
| Hgene | ALKBH5 | GO:0140694 | non-membrane-bounded organelle assembly | 37474102 |
| Tgene | KIT | GO:0002551 | mast cell chemotaxis | 20100931 |
| Tgene | KIT | GO:0019221 | cytokine-mediated signaling pathway | 21640708 |
| Tgene | KIT | GO:0030036 | actin cytoskeleton organization | 1721869 |
| Tgene | KIT | GO:0032765 | positive regulation of mast cell cytokine production | 20100931 |
| Tgene | KIT | GO:0038093 | Fc receptor signaling pathway | 20100931 |
| Tgene | KIT | GO:0038109 | Kit signaling pathway | 17662946 |
| Tgene | KIT | GO:0046777 | protein autophosphorylation | 21640708 |
| Tgene | KIT | GO:0060326 | cell chemotaxis | 1721869 |
| Tgene | KIT | GO:1905065 | positive regulation of vascular associated smooth muscle cell differentiation | 19088079 |
| Kinase Fusion gene breakpoints across ALKBH5 (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 KIT (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 | FN068919 | ALKBH5 | chr17 | 18085751 | KIT | chr4 | 55560427 |
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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/:18085751/:55560427) - 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 |
| ALKBH5 | KIT |
| FUNCTION: Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Can also demethylate N(6)-methyladenosine in single-stranded DNA (in vitro) (PubMed:24616105). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:21264265, PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Demethylation of m6A mRNA affects mRNA processing and export (PubMed:23177736). Required for the late meiotic and haploid phases of spermatogenesis by mediating m6A demethylation in spermatocytes and round spermatids: m6A demethylation of target transcripts is required for correct splicing and the production of longer 3'-UTR mRNAs in male germ cells (By similarity). {ECO:0000250|UniProtKB:Q3TSG4, ECO:0000269|PubMed:21264265, ECO:0000269|PubMed:23177736, ECO:0000269|PubMed:24489119, ECO:0000269|PubMed:24616105, ECO:0000269|PubMed:24778178}. | FUNCTION: Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1. {ECO:0000269|PubMed:10397721, ECO:0000269|PubMed:12444928, ECO:0000269|PubMed:12511554, ECO:0000269|PubMed:12878163, ECO:0000269|PubMed:17904548, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:21135090, ECO:0000269|PubMed:21640708, ECO:0000269|PubMed:7520444, ECO:0000269|PubMed:9528781}. |
| 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 ALKBH5_KIT |
| 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 |
| KIT | P10721 | human | KIT | P10721 | Y553 | KyLQKPMyEVQWKVV | |
| KIT | P10721 | human | KIT | P10721 | Y703 | DHAEAALyKNLLHSK | PK_Tyr_Ser-Thr |
| KIT | P10721 | human | SLA | Q13239 | Y273 | sFFSSPPyFED____ | |
| KIT | P10721 | human | KIT | P10721 | Y568 | EEINGNNyVyIDPTQ | |
| KIT | P10721 | human | KIT | P10721 | Y547 | VMILTYKyLQKPMyE | |
| KIT | P10721 | human | KIT | P10721 | Y936 | SEsTNHIysNLANCs | |
| KIT | P10721 | human | PHB1 | P35232 | Y259 | SRSRNItyLPAGQsV | |
| KIT | P10721 | human | KIT | P10721 | Y721 | CSDStNEyMDMKPGV | PK_Tyr_Ser-Thr |
| KIT | P10721 | human | KIT | P10721 | Y570 | INGNNyVyIDPTQLP | |
| KIT | P10721 | human | LAT2 | Q9GZY6 | Y110 | RHGsEEAyIDPIAME | LAT2 |
| KIT | P10721 | human | SLA | Q13239 | Y120 | SETKkGFySLSVRHR | SH2 |
| KIT | P10721 | human | LAT2 | Q9GZY6 | Y118 | IDPIAMEyyNWGRFS | LAT2 |
| KIT | P10721 | human | SLA | Q13239 | Y258 | KksIsLMyGGskRkS | |
| KIT | P10721 | human | KIT | P10721 | Y823 | DIKNDsNyVVKGNAR | PK_Tyr_Ser-Thr |
| 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 |
| KIT | ID | Description | 0.00e+00 |
| KIT | GO:0042113 | B cell activation | 2.04e-03 |
| KIT | GO:0010863 | positive regulation of phospholipase C activity | 2.04e-03 |
| KIT | GO:1900274 | regulation of phospholipase C activity | 2.04e-03 |
| KIT | GO:0010518 | positive regulation of phospholipase activity | 2.04e-03 |
| KIT | GO:0043303 | mast cell degranulation | 2.04e-03 |
| KIT | GO:0002279 | mast cell activation involved in immune response | 2.04e-03 |
| KIT | GO:0002448 | mast cell mediated immunity | 2.04e-03 |
| KIT | GO:0010517 | regulation of phospholipase activity | 2.04e-03 |
| KIT | GO:0060193 | positive regulation of lipase activity | 2.04e-03 |
| KIT | GO:0002764 | immune response-regulating signaling pathway | 2.21e-03 |
| KIT | GO:0045576 | mast cell activation | 2.21e-03 |
| KIT | GO:0060191 | regulation of lipase activity | 2.52e-03 |
| KIT | GO:0043299 | leukocyte degranulation | 2.52e-03 |
| KIT | GO:0032418 | lysosome localization | 2.52e-03 |
| KIT | GO:1990849 | vacuolar localization | 2.52e-03 |
| KIT | GO:0002275 | myeloid cell activation involved in immune response | 3.07e-03 |
| KIT | GO:0002444 | myeloid leukocyte mediated immunity | 3.64e-03 |
| KIT | GO:0002702 | positive regulation of production of molecular mediator of immune response | 5.26e-03 |
| KIT | GO:0051897 | positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 7.87e-03 |
| KIT | GO:0002700 | regulation of production of molecular mediator of immune response | 9.32e-03 |
| KIT | GO:0045055 | regulated exocytosis | 1.25e-02 |
| KIT | GO:0002274 | myeloid leukocyte activation | 1.35e-02 |
| KIT | GO:0051896 | regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1.36e-02 |
| KIT | GO:0002699 | positive regulation of immune effector process | 1.55e-02 |
| KIT | GO:0045860 | positive regulation of protein kinase activity | 1.62e-02 |
| KIT | GO:0043491 | phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1.64e-02 |
| KIT | GO:0002366 | leukocyte activation involved in immune response | 1.69e-02 |
| KIT | GO:0002263 | cell activation involved in immune response | 1.69e-02 |
| KIT | GO:0002440 | production of molecular mediator of immune response | 1.73e-02 |
| KIT | GO:0033674 | positive regulation of kinase activity | 1.91e-02 |
| KIT | GO:0002768 | immune response-regulating cell surface receptor signaling pathway | 1.91e-02 |
| KIT | GO:0006887 | exocytosis | 1.91e-02 |
| KIT | GO:0002551 | mast cell chemotaxis | 1.91e-02 |
| KIT | GO:0050847 | progesterone receptor signaling pathway | 1.91e-02 |
| KIT | GO:0002697 | regulation of immune effector process | 1.91e-02 |
| KIT | GO:0002327 | immature B cell differentiation | 1.91e-02 |
| KIT | GO:0002732 | positive regulation of dendritic cell cytokine production | 1.91e-02 |
| KIT | GO:0010944 | negative regulation of transcription by competitive promoter binding | 1.91e-02 |
| KIT | GO:0014831 | gastro-intestinal system smooth muscle contraction | 1.91e-02 |
| KIT | GO:0031272 | regulation of pseudopodium assembly | 1.91e-02 |
| KIT | GO:0031274 | positive regulation of pseudopodium assembly | 1.91e-02 |
| KIT | GO:0042921 | glucocorticoid receptor signaling pathway | 1.91e-02 |
| KIT | GO:1905065 | positive regulation of vascular associated smooth muscle cell differentiation | 1.91e-02 |
| KIT | GO:0051347 | positive regulation of transferase activity | 1.91e-02 |
| KIT | GO:0031958 | corticosteroid receptor signaling pathway | 1.91e-02 |
| KIT | GO:0097531 | mast cell migration | 1.91e-02 |
| KIT | GO:0050910 | detection of mechanical stimulus involved in sensory perception of sound | 1.91e-02 |
| KIT | GO:0060766 | negative regulation of androgen receptor signaling pathway | 1.91e-02 |
| KIT | GO:1904251 | regulation of bile acid metabolic process | 1.91e-02 |
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Related Drugs to ALKBH5_KIT |
| 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 ALKBH5-KIT 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 ALKBH5_KIT |
| 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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