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Kinase Fusion Gene:C7orf50_CSNK1G2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: C7orf50_CSNK1G2 | KinaseFusionDB ID: KFG814 | FusionGDB2.0 ID: KFG814 | Hgene | Tgene | Gene symbol | C7orf50 | CSNK1G2 | Gene ID | 84310 | 1455 | |
Gene name | chromosome 7 open reading frame 50 | casein kinase 1 gamma 2 | ||||||||||
Synonyms | Cholesin|YCR016W | CK1g2 | ||||||||||
Cytomap | 7p22.3 | 19p13.3 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | uncharacterized protein C7orf50 | casein kinase I isoform gamma-2casein kinase ICKI-gamma 2 | ||||||||||
Modification date | 20240403 | 20240305 | ||||||||||
UniProtAcc | Q9BRJ6 | P78368 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000357429, ENST00000397098, ENST00000397100, ENST00000488073, | ENST00000255641, ENST00000587123, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: C7orf50 [Title/Abstract] AND CSNK1G2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | C7orf50(1067894)-CSNK1G2(1969507), # 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 |
Kinase Fusion gene breakpoints across C7orf50 (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 CSNK1G2 (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-CD-A486-01A | C7orf50 | chr7 | 1067894 | CSNK1G2 | chr19 | 1969507 |
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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/:1067894/:1969507) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
C7orf50 | CSNK1G2 |
FUNCTION: Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling (By similarity). Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degradation, thus inhibiting SMAD3-mediated TGF-beta responses. Hyperphosphorylation of the serine-repeat motif of COL4A3BP/CERT leads to its inactivation by dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis. Triggers PER1 proteasomal degradation probably through phosphorylation (PubMed:15077195, PubMed:15917222, PubMed:18794808, PubMed:19005213). Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate (By similarity). Involved in regulation of reactive oxygen species (ROS) levels (PubMed:37099597). {ECO:0000250|UniProtKB:P48729, ECO:0000250|UniProtKB:Q8BVP5, ECO:0000269|PubMed:15077195, ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:18794808, ECO:0000269|PubMed:19005213, ECO:0000269|PubMed:37099597}. |
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 C7orf50_CSNK1G2 |
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 |
CSNK1G2 | P78368 | human | CERT1 | Q9Y5P4 | S132 | ssLRRHGsMVsLVsG | |
CSNK1G2 | P78368 | human | SNCA | P37840 | T64 | EktkEQVtNVGGAVV | Synuclein |
CSNK1G2 | P78368 | human | BECN1 | Q14457 | S409 | kIEDtGGsGGSYSIK | APG6 |
CSNK1G2 | P78368 | human | SMAD3 | P84022 | S418 | LtQMGsPsIRCssVs | |
CSNK1G2 | P78368 | human | LYN | P07948 | S13 | SKGkDsLsDDGVDLk | |
CSNK1G2 | P78368 | human | BECN1 | Q14457 | T406 | EKGkIEDtGGsGGSY | APG6 |
CSNK1G2 | P78368 | human | IRS4 | O14654 | S859 | KDAAsKPsGEGsFsK |
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 |
CSNK1G2 | ID | Description | 0.00e+00 |
CSNK1G2 | GO:0010950 | positive regulation of endopeptidase activity | 6.75e-03 |
CSNK1G2 | GO:0010952 | positive regulation of peptidase activity | 6.75e-03 |
CSNK1G2 | GO:0071280 | cellular response to copper ion | 8.71e-03 |
CSNK1G2 | GO:0010039 | response to iron ion | 8.74e-03 |
CSNK1G2 | GO:0046688 | response to copper ion | 1.07e-02 |
CSNK1G2 | GO:0052548 | regulation of endopeptidase activity | 1.09e-02 |
CSNK1G2 | GO:0052547 | regulation of peptidase activity | 1.18e-02 |
CSNK1G2 | GO:0009895 | negative regulation of catabolic process | 1.29e-02 |
CSNK1G2 | GO:0045862 | positive regulation of proteolysis | 1.29e-02 |
CSNK1G2 | GO:0010611 | regulation of cardiac muscle hypertrophy | 1.45e-02 |
CSNK1G2 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 1.45e-02 |
CSNK1G2 | GO:0014743 | regulation of muscle hypertrophy | 1.45e-02 |
CSNK1G2 | GO:0050727 | regulation of inflammatory response | 1.45e-02 |
CSNK1G2 | GO:0043112 | receptor metabolic process | 1.45e-02 |
CSNK1G2 | GO:0009410 | response to xenobiotic stimulus | 1.45e-02 |
CSNK1G2 | GO:0003012 | muscle system process | 1.45e-02 |
CSNK1G2 | GO:0140029 | exocytic process | 1.45e-02 |
CSNK1G2 | GO:0051279 | regulation of release of sequestered calcium ion into cytosol | 1.45e-02 |
CSNK1G2 | GO:0051656 | establishment of organelle localization | 1.45e-02 |
CSNK1G2 | GO:0010507 | negative regulation of autophagy | 1.60e-02 |
CSNK1G2 | GO:0043502 | regulation of muscle adaptation | 1.62e-02 |
CSNK1G2 | GO:0003300 | cardiac muscle hypertrophy | 1.76e-02 |
CSNK1G2 | GO:0014897 | striated muscle hypertrophy | 1.78e-02 |
CSNK1G2 | GO:0014896 | muscle hypertrophy | 1.78e-02 |
CSNK1G2 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 1.93e-02 |
CSNK1G2 | GO:0042177 | negative regulation of protein catabolic process | 1.93e-02 |
CSNK1G2 | GO:0043500 | muscle adaptation | 2.03e-02 |
CSNK1G2 | GO:2001056 | positive regulation of cysteine-type endopeptidase activity | 2.34e-02 |
CSNK1G2 | GO:0051209 | release of sequestered calcium ion into cytosol | 2.45e-02 |
CSNK1G2 | GO:0051283 | negative regulation of sequestering of calcium ion | 2.45e-02 |
CSNK1G2 | GO:0051282 | regulation of sequestering of calcium ion | 2.45e-02 |
CSNK1G2 | GO:0051208 | sequestering of calcium ion | 2.51e-02 |
CSNK1G2 | GO:2000377 | regulation of reactive oxygen species metabolic process | 2.57e-02 |
CSNK1G2 | GO:0043281 | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 3.06e-02 |
CSNK1G2 | GO:1903169 | regulation of calcium ion transmembrane transport | 3.39e-02 |
CSNK1G2 | GO:0006469 | negative regulation of protein kinase activity | 3.48e-02 |
CSNK1G2 | GO:0017157 | regulation of exocytosis | 3.79e-02 |
CSNK1G2 | GO:0033673 | negative regulation of kinase activity | 3.79e-02 |
CSNK1G2 | GO:2000116 | regulation of cysteine-type endopeptidase activity | 3.79e-02 |
CSNK1G2 | GO:0002520 | immune system development | 3.79e-02 |
CSNK1G2 | GO:0071248 | cellular response to metal ion | 3.79e-02 |
CSNK1G2 | GO:0050728 | negative regulation of inflammatory response | 3.79e-02 |
CSNK1G2 | GO:0097553 | calcium ion transmembrane import into cytosol | 3.81e-02 |
CSNK1G2 | GO:0031330 | negative regulation of cellular catabolic process | 3.83e-02 |
CSNK1G2 | GO:1901888 | regulation of cell junction assembly | 3.83e-02 |
CSNK1G2 | GO:0051348 | negative regulation of transferase activity | 3.83e-02 |
CSNK1G2 | GO:0045055 | regulated exocytosis | 3.83e-02 |
CSNK1G2 | GO:0071241 | cellular response to inorganic substance | 3.83e-02 |
CSNK1G2 | GO:0050920 | regulation of chemotaxis | 3.83e-02 |
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Related Drugs to C7orf50_CSNK1G2 |
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 C7orf50-CSNK1G2 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 C7orf50_CSNK1G2 |
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 |