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Kinase Fusion Gene:SMG1_CYB5R1 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: SMG1_CYB5R1 | KinaseFusionDB ID: KFG5918 | FusionGDB2.0 ID: KFG5918 | Hgene | Tgene | Gene symbol | SMG1 | CYB5R1 | Gene ID | 23049 | 51706 | |
| Gene name | SMG1 nonsense mediated mRNA decay associated PI3K related kinase | cytochrome b5 reductase 1 | ||||||||||
| Synonyms | 61E3.4|ATX|LIP | B5R.1|B5R1|B5R2|NQO3A2|humb5R2 | ||||||||||
| Cytomap | 16p12.3 | 1q32.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase SMG1PI-3-kinase-related kinase SMG-1SMG1 phosphatidylinositol 3-kinase-related kinaselambda-interacting proteinlambda/iota protein kinase C-interacting proteinnonsense mediated mRNA decay-associated PI3K-related kinase | NADH-cytochrome b5 reductase 1NAD(P)H:quinone oxidoreductase type 3, polypeptide A2 | ||||||||||
| Modification date | 20240411 | 20240305 | ||||||||||
| UniProtAcc | Q96Q15 | Q9UHQ9 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000389467, ENST00000446231, ENST00000565224, ENST00000567737, | ENST00000367249, ENST00000497655, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: SMG1 [Title/Abstract] AND CYB5R1 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SMG1(18846274)-CYB5R1(202936400), # 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 | SMG1 | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11544179 |
| Hgene | SMG1 | GO:0006974 | DNA damage response | 15175154 |
| Hgene | SMG1 | GO:0018105 | peptidyl-serine phosphorylation | 11544179|15175154 |
| Hgene | SMG1 | GO:0046777 | protein autophosphorylation | 11331269|11544179 |
| Hgene | SMG1 | GO:0046854 | phosphatidylinositol phosphate biosynthetic process | 11331269 |
| Kinase Fusion gene breakpoints across SMG1 (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 CYB5R1 (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-HU-A4GP-11A | SMG1 | chr16 | 18846274 | CYB5R1 | chr1 | 202936400 |
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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/:18846274/:202936400) - 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 |
| SMG1 | CYB5R1 |
| FUNCTION: Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by phosphorylating UPF1/RENT1. Recruited by release factors to stalled ribosomes together with SMG8 and SMG9 (forming the SMG1C protein kinase complex), and UPF1 to form the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. In EJC-dependent NMD, the SURF complex associates with the exon junction complex (EJC) through UPF2 and allows the formation of an UPF1-UPF2-UPF3 surveillance complex which is believed to activate NMD. Also acts as a genotoxic stress-activated protein kinase that displays some functional overlap with ATM. Can phosphorylate p53/TP53 and is required for optimal p53/TP53 activation after cellular exposure to genotoxic stress. Its depletion leads to spontaneous DNA damage and increased sensitivity to ionizing radiation (IR). May activate PRKCI but not PRKCZ. {ECO:0000269|PubMed:11331269, ECO:0000269|PubMed:11544179, ECO:0000269|PubMed:15175154, ECO:0000269|PubMed:16452507}. | FUNCTION: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. {ECO:0000250}. |
| 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 SMG1_CYB5R1 |
| 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 |
| SMG1 | Q96Q15 | human | UPF1 | Q92900 | T28 | AELLGADtQGsEFEF | |
| SMG1 | Q96Q15 | human | UPF1 | Q92900 | S1089 | GLsQPELsQDSYLGD | |
| SMG1 | Q96Q15 | human | UPF1 | Q92900 | S1127 | HGGVTGLsQy_____ | |
| SMG1 | Q96Q15 | human | UPF1 | Q92900 | S1107 | sQIDVALsQDstyQG | |
| SMG1 | Q96Q15 | human | UPF1 | Q92900 | S1084 | QMSQPGLsQPELsQD | |
| SMG1 | Q96Q15 | human | TP53 | P04637 | S15 | PsVEPPLsQEtFsDL | P53_TAD |
| 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 |
| SMG1 | ID | Description | 0.00e+00 |
| SMG1 | GO:0071216 | cellular response to biotic stimulus | 1.83e-02 |
| SMG1 | GO:0006260 | DNA replication | 1.83e-02 |
| SMG1 | GO:0006913 | nucleocytoplasmic transport | 1.83e-02 |
| SMG1 | GO:0051169 | nuclear transport | 1.83e-02 |
| SMG1 | GO:0022411 | cellular component disassembly | 1.83e-02 |
| SMG1 | GO:0061418 | regulation of transcription from RNA polymerase II promoter in response to hypoxia | 1.83e-02 |
| SMG1 | GO:1900543 | negative regulation of purine nucleotide metabolic process | 1.83e-02 |
| SMG1 | GO:1903799 | negative regulation of miRNA processing | 1.83e-02 |
| SMG1 | GO:0006983 | ER overload response | 1.83e-02 |
| SMG1 | GO:0007406 | negative regulation of neuroblast proliferation | 1.83e-02 |
| SMG1 | GO:0045980 | negative regulation of nucleotide metabolic process | 1.83e-02 |
| SMG1 | GO:0051095 | regulation of helicase activity | 1.83e-02 |
| SMG1 | GO:0062100 | positive regulation of programmed necrotic cell death | 1.83e-02 |
| SMG1 | GO:0071044 | histone mRNA catabolic process | 1.83e-02 |
| SMG1 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 1.83e-02 |
| SMG1 | GO:0060965 | negative regulation of miRNA-mediated gene silencing | 1.83e-02 |
| SMG1 | GO:0071236 | cellular response to antibiotic | 1.83e-02 |
| SMG1 | GO:0060149 | negative regulation of post-transcriptional gene silencing | 1.83e-02 |
| SMG1 | GO:0060967 | negative regulation of gene silencing by regulatory ncRNA | 1.83e-02 |
| SMG1 | GO:0070234 | positive regulation of T cell apoptotic process | 1.83e-02 |
| SMG1 | GO:1900369 | negative regulation of post-transcriptional gene silencing by regulatory ncRNA | 1.83e-02 |
| SMG1 | GO:0010225 | response to UV-C | 1.83e-02 |
| SMG1 | GO:0070243 | regulation of thymocyte apoptotic process | 1.83e-02 |
| SMG1 | GO:0034349 | glial cell apoptotic process | 1.83e-02 |
| SMG1 | GO:0070230 | positive regulation of lymphocyte apoptotic process | 1.83e-02 |
| SMG1 | GO:1901524 | regulation of mitophagy | 1.83e-02 |
| SMG1 | GO:1903798 | regulation of miRNA processing | 1.83e-02 |
| SMG1 | GO:0006415 | translational termination | 1.83e-02 |
| SMG1 | GO:0032780 | negative regulation of ATP-dependent activity | 1.83e-02 |
| SMG1 | GO:0060253 | negative regulation of glial cell proliferation | 1.83e-02 |
| SMG1 | GO:0070920 | regulation of regulatory ncRNA processing | 1.83e-02 |
| SMG1 | GO:0090399 | replicative senescence | 1.83e-02 |
| SMG1 | GO:1901522 | positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus | 1.83e-02 |
| SMG1 | GO:0006089 | lactate metabolic process | 1.83e-02 |
| SMG1 | GO:0006977 | DNA damage respons | 1.91e-03 |
| SMG1 | GO:0010663 | positive regulation of striated muscle cell apoptotic process | 1.83e-02 |
| SMG1 | GO:0010666 | positive regulation of cardiac muscle cell apoptotic process | 1.83e-02 |
| SMG1 | GO:0042772 | DNA damage respons | 2.01e-03 |
| SMG1 | GO:0070314 | G1 to G0 transition | 1.83e-02 |
| SMG1 | GO:2000774 | positive regulation of cellular senescence | 1.83e-02 |
| SMG1 | GO:0006098 | pentose-phosphate shunt | 1.83e-02 |
| SMG1 | GO:0008334 | histone mRNA metabolic process | 1.83e-02 |
| SMG1 | GO:0070242 | thymocyte apoptotic process | 1.83e-02 |
| SMG1 | GO:2000269 | regulation of fibroblast apoptotic process | 1.83e-02 |
| SMG1 | GO:0032042 | mitochondrial DNA metabolic process | 1.83e-02 |
| SMG1 | GO:0006740 | NADPH regeneration | 1.83e-02 |
| SMG1 | GO:0009651 | response to salt stress | 1.83e-02 |
| SMG1 | GO:0008156 | negative regulation of DNA replication | 1.83e-02 |
| SMG1 | GO:0043153 | entrainment of circadian clock by photoperiod | 1.83e-02 |
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Related Drugs to SMG1_CYB5R1 |
| 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 SMG1-CYB5R1 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 SMG1_CYB5R1 |
| 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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