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Kinase Fusion Gene:CCDC88C_CSK |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: CCDC88C_CSK | KinaseFusionDB ID: KFG961 | FusionGDB2.0 ID: KFG961 | Hgene | Tgene | Gene symbol | CCDC88C | CSK | Gene ID | 440193 | 1445 | |
Gene name | coiled-coil domain containing 88C | C-terminal Src kinase | ||||||||||
Synonyms | DAPLE|HKRP2|HYC1|KIAA1509|SCA40 | - | ||||||||||
Cytomap | 14q32.11-q32.12 | 15q24.1 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | protein DapleDvl-associating protein with a high frequency of leucine residueshook-related protein 2spinocerebellar ataxia 40 | tyrosine-protein kinase CSKC-Src kinaseCSK, non-receptor tyrosine kinasec-src tyrosine kinaseprotein-tyrosine kinase CYL | ||||||||||
Modification date | 20240411 | 20240411 | ||||||||||
UniProtAcc | Q9P219 | P41240 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000389857, ENST00000331194, ENST00000389856, ENST00000553403, ENST00000554165, | ENST00000220003, ENST00000439220, ENST00000567571, ENST00000309470, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CCDC88C [Title/Abstract] AND CSK [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) |
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 | CCDC88C | GO:0003383 | apical constriction | 30948426 |
Hgene | CCDC88C | GO:0007264 | small GTPase-mediated signal transduction | 26126266 |
Tgene | CSK | GO:0042997 | negative regulation of Golgi to plasma membrane protein transport | 20605918 |
Kinase Fusion gene breakpoints across CCDC88C (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 CSK (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 |
CCLE | UPCI-SCC-152 | CCDC88C | chr14 | 91875003 | CSK | chr15 | 75090574 |
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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/:/:) - 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 |
CCDC88C | CSK |
FUNCTION: Required for activation of guanine nucleotide-binding proteins (G-proteins) during non-canonical Wnt signaling (PubMed:26126266). Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signaling (PubMed:26126266). Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation (PubMed:26126266). Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G-protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signaling (PubMed:26126266). Promotes apical constriction of cells via ARHGEF18 (PubMed:30948426). {ECO:0000269|PubMed:26126266, ECO:0000269|PubMed:30948426}. | FUNCTION: Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T-cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. {ECO:0000269|PubMed:1639064, ECO:0000269|PubMed:9281320}. |
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 CCDC88C_CSK |
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 |
CSK | P41240 | human | EEF2 | P13639 | Y265 | kkLWGDryFDPANGk | GTP_EFTU |
CSK | P41240 | human | YES1 | P07947 | Y537 | FtAtEPQyQPGENL_ | |
CSK | P41240 | human | PTPRC | P08575 | Y1218 | MVSTFEQyQFLyDVI | Y_phosphatase |
CSK | P41240 | human | LCK | P06239 | Y505 | FTAtEGQyQPQP___ | |
CSK | P41240 | human | SRC | P12931 | Y530 | FTstEPQyQPGENL_ | |
CSK | P41240 | human | HCK | P08631 | Y411 | RVIEDNEytAREGAk | PK_Tyr_Ser-Thr |
CSK | P41240 | human | MAPT | P10636-8 | Y29 | DRKDQGGytMHQDQE | |
CSK | P41240 | human | MAPT | P10636-8 | Y197 | KsGDRsGyssPGsPG | |
CSK | P41240 | human | EEF2 | P13639 | Y373 | kYRCELLyEGPPDDE | |
CSK | P41240 | human | SRC | P12931 | Y419 | RLIEDNEytARQGAk | PK_Tyr_Ser-Thr |
CSK | P41240 | human | FYN | P06241 | Y531 | FtAtEPQyQPGENL_ |
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 |
CSK | ID | Description | 0.00e+00 |
CSK | GO:0038094 | Fc-gamma receptor signaling pathway | 4.27e-13 |
CSK | GO:0038093 | Fc receptor signaling pathway | 6.25e-12 |
CSK | GO:0002433 | immune response-regulating cell surface receptor signaling pathway involved in phagocytosis | 3.99e-11 |
CSK | GO:0038096 | Fc-gamma receptor signaling pathway involved in phagocytosis | 3.99e-11 |
CSK | GO:0002431 | Fc receptor mediated stimulatory signaling pathway | 9.76e-11 |
CSK | GO:0018108 | peptidyl-tyrosine phosphorylation | 3.27e-08 |
CSK | GO:0018212 | peptidyl-tyrosine modification | 3.27e-08 |
CSK | GO:0002862 | negative regulation of inflammatory response to antigenic stimulus | 5.72e-08 |
CSK | GO:0002429 | immune response-activating cell surface receptor signaling pathway | 5.72e-08 |
CSK | GO:0002768 | immune response-regulating cell surface receptor signaling pathway | 8.55e-08 |
CSK | GO:0002861 | regulation of inflammatory response to antigenic stimulus | 1.85e-07 |
CSK | GO:0031295 | T cell costimulation | 1.85e-07 |
CSK | GO:0031294 | lymphocyte costimulation | 2.02e-07 |
CSK | GO:0002757 | immune response-activating signaling pathway | 3.99e-07 |
CSK | GO:0050728 | negative regulation of inflammatory response | 4.21e-07 |
CSK | GO:0050777 | negative regulation of immune response | 4.25e-07 |
CSK | GO:0002764 | immune response-regulating signaling pathway | 4.58e-07 |
CSK | GO:0006909 | phagocytosis | 7.82e-07 |
CSK | GO:0002437 | inflammatory response to antigenic stimulus | 9.38e-07 |
CSK | GO:0050870 | positive regulation of T cell activation | 9.38e-07 |
CSK | GO:1903039 | positive regulation of leukocyte cell-cell adhesion | 1.41e-06 |
CSK | GO:0031348 | negative regulation of defense response | 2.83e-06 |
CSK | GO:0022409 | positive regulation of cell-cell adhesion | 2.83e-06 |
CSK | GO:0051251 | positive regulation of lymphocyte activation | 3.05e-06 |
CSK | GO:0036120 | cellular response to platelet-derived growth factor stimulus | 3.05e-06 |
CSK | GO:0036119 | response to platelet-derived growth factor | 3.81e-06 |
CSK | GO:0002696 | positive regulation of leukocyte activation | 5.26e-06 |
CSK | GO:0050863 | regulation of T cell activation | 5.26e-06 |
CSK | GO:1903037 | regulation of leukocyte cell-cell adhesion | 5.26e-06 |
CSK | GO:0050867 | positive regulation of cell activation | 5.89e-06 |
CSK | GO:0050900 | leukocyte migration | 5.89e-06 |
CSK | GO:0007159 | leukocyte cell-cell adhesion | 7.55e-06 |
CSK | GO:0050727 | regulation of inflammatory response | 7.86e-06 |
CSK | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 1.05e-05 |
CSK | GO:0032102 | negative regulation of response to external stimulus | 1.35e-05 |
CSK | GO:0045785 | positive regulation of cell adhesion | 1.35e-05 |
CSK | GO:0022407 | regulation of cell-cell adhesion | 1.46e-05 |
CSK | GO:2000116 | regulation of cysteine-type endopeptidase activity | 1.71e-05 |
CSK | GO:0046777 | protein autophosphorylation | 1.80e-05 |
CSK | GO:0048013 | ephrin receptor signaling pathway | 2.23e-05 |
CSK | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation | 3.11e-05 |
CSK | GO:0052548 | regulation of endopeptidase activity | 7.30e-05 |
CSK | GO:0052547 | regulation of peptidase activity | 9.80e-05 |
CSK | GO:0045862 | positive regulation of proteolysis | 1.51e-04 |
CSK | GO:0071801 | regulation of podosome assembly | 2.35e-04 |
CSK | GO:2001233 | regulation of apoptotic signaling pathway | 2.40e-04 |
CSK | GO:2001056 | positive regulation of cysteine-type endopeptidase activity | 3.14e-04 |
CSK | GO:0050852 | T cell receptor signaling pathway | 4.27e-04 |
CSK | GO:0071800 | podosome assembly | 4.73e-04 |
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Related Drugs to CCDC88C_CSK |
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 CCDC88C-CSK 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 CCDC88C_CSK |
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 |