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Kinase Fusion Gene:TEC_HMGCLL1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: TEC_HMGCLL1 | KinaseFusionDB ID: KFG6464 | FusionGDB2.0 ID: KFG6464 | Hgene | Tgene | Gene symbol | TEC | HMGCLL1 | Gene ID | 7006 | 54511 | |
| Gene name | tec protein tyrosine kinase | 3-hydroxy-3-methylglutaryl-CoA lyase like 1 | ||||||||||
| Synonyms | PSCTK4 | ERCHL|bA418P12.1|er-cHL | ||||||||||
| Cytomap | 4p12-p11 | 6p12.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | tyrosine-protein kinase Tec | 3-hydroxymethyl-3-methylglutaryl-CoA lyase, cytoplasmic3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic3-hydroxy-3-methylglutaryl-CoA lyase-like protein 13-hydroxymethyl-3-methylglutaryl-CoA lyase L13-hydroxymethyl-3-methylglutaryl-CoA lyase like 13 | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | Q9NZ01 | Q8TB92 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000381501, ENST00000511471, | ENST00000507223, ENST00000358072, ENST00000428842, ENST00000274901, ENST00000308161, ENST00000370850, ENST00000398661, ENST00000508459, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: TEC [Title/Abstract] AND HMGCLL1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TEC(48230494)-HMGCLL1(55304357), # 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 |
| Hgene | TEC | GO:0007229 | integrin-mediated signaling pathway | 9652744 |
| Hgene | TEC | GO:0010543 | regulation of platelet activation | 9299487|9652744 |
| Hgene | TEC | GO:0050853 | B cell receptor signaling pathway | 10518561 |
| Tgene | HMGCLL1 | GO:0046951 | ketone body biosynthetic process | 22847177|22865860 |
| Kinase Fusion gene breakpoints across TEC (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 HMGCLL1 (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-56-A49D-01A | TEC | chr4 | 48230494 | HMGCLL1 | chr6 | 55304357 |
| ChimerDB4 | TCGA-56-A49D | TEC | chr4 | 48230493 | HMGCLL1 | chr6 | 55304357 |
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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/:48230494/:55304357) - 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 |
| TEC | HMGCLL1 |
| FUNCTION: Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (PubMed:12482854). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (PubMed:12482854). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (PubMed:12482854). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (PubMed:12482854). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (PubMed:25049234). {ECO:0000269|PubMed:12482854, ECO:0000269|PubMed:25049234}. | FUNCTION: Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues. {ECO:0000269|PubMed:22847177, ECO:0000269|PubMed:22865860}. |
| 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 TEC_HMGCLL1 |
| 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 |
| TEC | P42680 | human | PTPN18 | Q99952 | Y389 | sAEEAPLysKVtPRA | |
| TEC | P42680 | human | BMX | P51813 | Y216 | SSTSLAQyDSNSKKI | |
| TEC | P42680 | human | TEC | P42680 | Y206 | RLERGQEyLILEKND | SH3_1 |
| TEC | P42680 | human | PTPN18 | Q99952 | Y303 | LQNASPHyQNIKENC | |
| TEC | P42680 | human | BTK | Q06187 | Y223 | LKKVVALyDyMPMNA | SH3_1 |
| TEC | P42680 | human | ITK | Q08881 | Y180 | ETVVIALyDyQtNDP | SH3_1 |
| TEC | P42680 | human | PTPN18 | Q99952 | Y281 | AVQTEEQyRFLYHTV | Y_phosphatase |
| TEC | P42680 | human | FGF2 | P09038-2 | Y82 | KGVCANRyLAMKEDG | FGF |
| TEC | P42680 | human | PTPN18 | Q99952 | Y354 | GHAMADTyAVVQKRG |
| 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 |
| TEC | ID | Description | 0.00e+00 |
| TEC | GO:0050853 | B cell receptor signaling pathway | 2.01e-06 |
| TEC | GO:0050851 | antigen receptor-mediated signaling pathway | 5.24e-05 |
| TEC | GO:0002429 | immune response-activating cell surface receptor signaling pathway | 2.02e-04 |
| TEC | GO:0002768 | immune response-regulating cell surface receptor signaling pathway | 2.12e-04 |
| TEC | GO:0002757 | immune response-activating signaling pathway | 5.90e-04 |
| TEC | GO:0002764 | immune response-regulating signaling pathway | 6.13e-04 |
| TEC | GO:0050852 | T cell receptor signaling pathway | 6.42e-04 |
| TEC | GO:0010863 | positive regulation of phospholipase C activity | 3.62e-03 |
| TEC | GO:1900274 | regulation of phospholipase C activity | 3.62e-03 |
| TEC | GO:0010518 | positive regulation of phospholipase activity | 5.17e-03 |
| TEC | GO:0010517 | regulation of phospholipase activity | 6.47e-03 |
| TEC | GO:0060193 | positive regulation of lipase activity | 6.47e-03 |
| TEC | GO:0060191 | regulation of lipase activity | 1.01e-02 |
| TEC | GO:0006661 | phosphatidylinositol biosynthetic process | 2.64e-02 |
| TEC | GO:0007498 | mesoderm development | 2.66e-02 |
| TEC | GO:0046488 | phosphatidylinositol metabolic process | 3.23e-02 |
| TEC | GO:1901136 | carbohydrate derivative catabolic process | 4.00e-02 |
| TEC | GO:0046474 | glycerophospholipid biosynthetic process | 5.23e-02 |
| TEC | GO:0050679 | positive regulation of epithelial cell proliferation | 5.23e-02 |
| TEC | GO:0045017 | glycerolipid biosynthetic process | 5.23e-02 |
| TEC | GO:0008654 | phospholipid biosynthetic process | 5.23e-02 |
| TEC | GO:0002883 | regulation of hypersensitivity | 5.23e-02 |
| TEC | GO:0035768 | endothelial cell chemotaxis to fibroblast growth factor | 5.23e-02 |
| TEC | GO:2000544 | regulation of endothelial cell chemotaxis to fibroblast growth factor | 5.23e-02 |
| TEC | GO:0001821 | histamine secretion | 5.23e-02 |
| TEC | GO:0001865 | NK T cell differentiation | 5.23e-02 |
| TEC | GO:0010764 | negative regulation of fibroblast migration | 5.23e-02 |
| TEC | GO:0021936 | regulation of cerebellar granule cell precursor proliferation | 5.23e-02 |
| TEC | GO:0030167 | proteoglycan catabolic process | 5.23e-02 |
| TEC | GO:0035766 | cell chemotaxis to fibroblast growth factor | 5.23e-02 |
| TEC | GO:1904847 | regulation of cell chemotaxis to fibroblast growth factor | 5.23e-02 |
| TEC | GO:0006650 | glycerophospholipid metabolic process | 5.23e-02 |
| TEC | GO:0014842 | regulation of skeletal muscle satellite cell proliferation | 5.23e-02 |
| TEC | GO:0002863 | positive regulation of inflammatory response to antigenic stimulus | 5.23e-02 |
| TEC | GO:0010455 | positive regulation of cell fate commitment | 5.23e-02 |
| TEC | GO:0098761 | cellular response to interleukin-7 | 5.23e-02 |
| TEC | GO:0002524 | hypersensitivity | 5.23e-02 |
| TEC | GO:0051608 | histamine transport | 5.23e-02 |
| TEC | GO:0098760 | response to interleukin-7 | 5.23e-02 |
| TEC | GO:2001028 | positive regulation of endothelial cell chemotaxis | 5.23e-02 |
| TEC | GO:0002864 | regulation of acute inflammatory response to antigenic stimulus | 5.23e-02 |
| TEC | GO:0014857 | regulation of skeletal muscle cell proliferation | 5.23e-02 |
| TEC | GO:0021534 | cell proliferation in hindbrain | 5.23e-02 |
| TEC | GO:0021924 | cell proliferation in external granule layer | 5.23e-02 |
| TEC | GO:0021930 | cerebellar granule cell precursor proliferation | 5.23e-02 |
| TEC | GO:0021984 | adenohypophysis development | 5.23e-02 |
| TEC | GO:0030214 | hyaluronan catabolic process | 5.23e-02 |
| TEC | GO:0045579 | positive regulation of B cell differentiation | 5.23e-02 |
| TEC | GO:0061101 | neuroendocrine cell differentiation | 5.23e-02 |
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Related Drugs to TEC_HMGCLL1 |
| 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 TEC-HMGCLL1 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 TEC_HMGCLL1 |
| 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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