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Kinase Fusion Gene:BLVRA_HECW1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BLVRA_HECW1 | KinaseFusionDB ID: KFG627 | FusionGDB2.0 ID: KFG627 | Hgene | Tgene | Gene symbol | BLVRA | HECW1 | Gene ID | 644 | 23072 | |
| Gene name | biliverdin reductase A | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 | ||||||||||
| Synonyms | BLVR|BVR|BVRA|BVRalpha | NEDL1 | ||||||||||
| Cytomap | 7p13 | 7p14.1-p13 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | biliverdin reductase ABVR Abiliverdin reductase IXalphabiliverdin-IX alpha-reductasetestis tissue sperm-binding protein Li 61n | E3 ubiquitin-protein ligase HECW1HECT type E3 ubiquitin ligaseHECT-type E3 ubiquitin transferase HECW1NEDD4-like ubiquitin-protein ligase 1 | ||||||||||
| Modification date | 20240416 | 20240411 | ||||||||||
| UniProtAcc | P53004 | Q76N89 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000265523, ENST00000402924, | ENST00000471043, ENST00000395891, ENST00000453890, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BLVRA [Title/Abstract] AND HECW1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BLVRA(43810769)-HECW1(43400484), # 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 | BLVRA | GO:0042167 | heme catabolic process | 10858451 |
| Kinase Fusion gene breakpoints across BLVRA (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 HECW1 (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-04-1517 | BLVRA | chr7 | 43810769 | HECW1 | chr7 | 43400484 |
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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/:43810769/:43400484) - 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 |
| BLVRA | HECW1 |
| FUNCTION: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor (PubMed:8631357, PubMed:8424666, PubMed:7929092). Uses the reactants NADH or NADPH depending on the pH; NADH is used at the acidic pH range (6-6.9) and NADPH at the alkaline range (8.5-8.7) (PubMed:8631357, PubMed:8424666, PubMed:7929092). NADPH, however, is the probable reactant in biological systems (PubMed:7929092). {ECO:0000269|PubMed:7929092, ECO:0000269|PubMed:8424666, ECO:0000269|PubMed:8631357}. | FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SOD1 that lead to motor neuron death in FALS. {ECO:0000269|PubMed:14684739}. |
| 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 BLVRA_HECW1 |
| 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 |
| BLVRA | P53004 | human | BLVRA | P53004 | Y83 | ESSSHEDyIRQFLNA | GFO_IDH_MocA |
| BLVRA | P53004 | human | BLVRA | P53004 | Y72 | SQEVEVAyICSESSS | GFO_IDH_MocA |
| BLVRA | P53004 | human | PRKCB | P05771 | T500 | WDGVttktFCGtPDy | Pkinase |
| 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 |
| BLVRA | ID | Description | 0.00e+00 |
| BLVRA | GO:0050861 | positive regulation of B cell receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:0051081 | nuclear membrane disassembly | 2.25e-02 |
| BLVRA | GO:0030397 | membrane disassembly | 2.25e-02 |
| BLVRA | GO:0042167 | heme catabolic process | 2.25e-02 |
| BLVRA | GO:0046149 | pigment catabolic process | 2.25e-02 |
| BLVRA | GO:0042487 | regulation of odontogenesis of dentin-containing tooth | 2.25e-02 |
| BLVRA | GO:0006787 | porphyrin-containing compound catabolic process | 2.25e-02 |
| BLVRA | GO:0033015 | tetrapyrrole catabolic process | 2.25e-02 |
| BLVRA | GO:0030949 | positive regulation of vascular endothelial growth factor receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:0042481 | regulation of odontogenesis | 2.25e-02 |
| BLVRA | GO:0042953 | lipoprotein transport | 2.25e-02 |
| BLVRA | GO:0007213 | G protein-coupled acetylcholine receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:0010829 | negative regulation of glucose transmembrane transport | 2.25e-02 |
| BLVRA | GO:0044872 | lipoprotein localization | 2.25e-02 |
| BLVRA | GO:0050855 | regulation of B cell receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:0050857 | positive regulation of antigen receptor-mediated signaling pathway | 2.25e-02 |
| BLVRA | GO:0095500 | acetylcholine receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:0099171 | presynaptic modulation of chemical synaptic transmission | 2.25e-02 |
| BLVRA | GO:1905145 | cellular response to acetylcholine | 2.25e-02 |
| BLVRA | GO:0030947 | regulation of vascular endothelial growth factor receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:0110110 | positive regulation of animal organ morphogenesis | 2.25e-02 |
| BLVRA | GO:0014059 | regulation of dopamine secretion | 2.25e-02 |
| BLVRA | GO:0033280 | response to vitamin D | 2.25e-02 |
| BLVRA | GO:1905144 | response to acetylcholine | 2.25e-02 |
| BLVRA | GO:0098926 | postsynaptic signal transduction | 2.25e-02 |
| BLVRA | GO:0014046 | dopamine secretion | 2.25e-02 |
| BLVRA | GO:0046627 | negative regulation of insulin receptor signaling pathway | 2.25e-02 |
| BLVRA | GO:1900077 | negative regulation of cellular response to insulin stimulus | 2.25e-02 |
| BLVRA | GO:0071763 | nuclear membrane organization | 2.25e-02 |
| BLVRA | GO:2000300 | regulation of synaptic vesicle exocytosis | 2.25e-02 |
| BLVRA | GO:0042168 | heme metabolic process | 2.28e-02 |
| BLVRA | GO:0006778 | porphyrin-containing compound metabolic process | 2.46e-02 |
| BLVRA | GO:0006998 | nuclear envelope organization | 2.46e-02 |
| BLVRA | GO:0015872 | dopamine transport | 2.46e-02 |
| BLVRA | GO:0050433 | regulation of catecholamine secretion | 2.46e-02 |
| BLVRA | GO:0048010 | vascular endothelial growth factor receptor signaling pathway | 2.50e-02 |
| BLVRA | GO:0050432 | catecholamine secretion | 2.50e-02 |
| BLVRA | GO:0033013 | tetrapyrrole metabolic process | 2.50e-02 |
| BLVRA | GO:0050854 | regulation of antigen receptor-mediated signaling pathway | 2.60e-02 |
| BLVRA | GO:0046626 | regulation of insulin receptor signaling pathway | 2.65e-02 |
| BLVRA | GO:1900076 | regulation of cellular response to insulin stimulus | 2.66e-02 |
| BLVRA | GO:0051937 | catecholamine transport | 2.72e-02 |
| BLVRA | GO:0050853 | B cell receptor signaling pathway | 2.72e-02 |
| BLVRA | GO:0010827 | regulation of glucose transmembrane transport | 2.72e-02 |
| BLVRA | GO:0042440 | pigment metabolic process | 2.73e-02 |
| BLVRA | GO:0046928 | regulation of neurotransmitter secretion | 2.73e-02 |
| BLVRA | GO:0032024 | positive regulation of insulin secretion | 2.74e-02 |
| BLVRA | GO:0033273 | response to vitamin | 2.75e-02 |
| BLVRA | GO:0015844 | monoamine transport | 2.78e-02 |
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Related Drugs to BLVRA_HECW1 |
| 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 BLVRA-HECW1 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 BLVRA_HECW1 |
| 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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