Kinase Fusion partner gene information | Kinase Fusion gene name: C2orf69_CDC42BPA |
KinaseFusionDB ID: KFG804 | FusionGDB2.0 ID: KFG804 | | Hgene | Tgene | Gene symbol | C2orf69 | CDC42BPA | Gene ID | 205327 | 8476 | Gene name | chromosome 2 open reading frame 69 | CDC42 binding protein kinase alpha |
Synonyms | COXPD53 | MRCK|MRCKA|MRCKalpha|PK428 |
Cytomap | 2q33.1 | 1q42.13 |
Type of gene | protein-coding | protein-coding |
Description | mitochondrial protein C2orf69UPF0565 protein C2orf69 | serine/threonine-protein kinase MRCK alphaCDC42 binding protein kinase alpha (DMPK-like)CDC42 binding protein kinase betamyotonic dystrophy kinase-related CDC42-binding protein kinase alphamyotonic dystrophy protein kinase-like alphaser-thr protein k |
Modification date | 20240305 | 20240403 |
UniProtAcc | Q8N8R5 | Q5VT25 |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000319974, ENST00000491721,
| ENST00000334218, ENST00000366764, ENST00000366765, ENST00000366766, ENST00000366767, ENST00000366769, ENST00000488131, ENST00000535525,
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Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: C2orf69 [Title/Abstract] AND CDC42BPA [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | C2orf69(200778361)-CDC42BPA(227440850), # samples:1
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Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Kinase Fusion gene breakpoints across C2orf69 (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 CDC42BPA (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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 |
ChiTaRS5.0 | FN111886 | C2orf69 | chr2 | 200778361 | CDC42BPA | chr1 | 227440850 |
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) |
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
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Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:200778361/:227440850) - 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 |
C2orf69
Q8N8R5 | CDC42BPA
Q5VT25 |
FUNCTION: May play a role in the respiratory chain. {ECO:0000269|PubMed:33945503}. | FUNCTION: Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9418861, PubMed:9092543). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). Triggers the formation of an extrusion apical actin ring required for epithelial extrusion of apoptotic cells (PubMed:29162624). {ECO:0000250|UniProtKB:Q3UU96, ECO:0000269|PubMed:11340065, ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:15723050, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:20188707, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:29162624, ECO:0000269|PubMed:9092543, ECO:0000269|PubMed:9418861}. |
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 download page * 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 |
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 |
CDC42BPA | Q5VT25 | human | CDC42BPA | Q5VT25 | T403 | HLPFVGFtYTSSCVL | Pkinase_C |
CDC42BPA | Q5VT25 | human | CDC42BPA | Q5VT25 | S1003 | RKKGCPGsTGFPPKR | |
CDC42BPA | Q5VT25 | human | CDC42BPA | Q5VT25 | T240 | QsSVAVGtPDYISPE | Pkinase |
CDC42BPA | Q5VT25 | human | MYL9 | P24844 | S20 | KRPQRAtsNVFAMFD | |
CDC42BPA | Q5VT25 | human | CDC42BPA | Q5VT25 | S234 | MEDGTVQsSVAVGtP | 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 |
CDC42BPA | ID | Description | 0.00e+00 |
CDC42BPA | GO:0031032 | actomyosin structure organization | 2.66e-03 |
CDC42BPA | GO:0030239 | myofibril assembly | 3.43e-02 |
CDC42BPA | GO:0070527 | platelet aggregation | 3.43e-02 |
CDC42BPA | GO:0055002 | striated muscle cell development | 3.43e-02 |
CDC42BPA | GO:0034109 | homotypic cell-cell adhesion | 3.43e-02 |
CDC42BPA | GO:0018107 | peptidyl-threonine phosphorylation | 3.43e-02 |
CDC42BPA | GO:0018210 | peptidyl-threonine modification | 3.43e-02 |
CDC42BPA | GO:0010927 | cellular component assembly involved in morphogenesis | 3.43e-02 |
CDC42BPA | GO:0030168 | platelet activation | 3.43e-02 |
CDC42BPA | GO:0006937 | regulation of muscle contraction | 3.81e-02 |
CDC42BPA | GO:0055001 | muscle cell development | 3.81e-02 |
CDC42BPA | GO:0007596 | blood coagulation | 3.81e-02 |
CDC42BPA | GO:0050817 | coagulation | 3.81e-02 |
CDC42BPA | GO:0007599 | hemostasis | 3.81e-02 |
CDC42BPA | GO:0090257 | regulation of muscle system process | 3.81e-02 |
CDC42BPA | GO:0051146 | striated muscle cell differentiation | 4.41e-02 |
CDC42BPA | GO:0006936 | muscle contraction | 4.64e-02 |
CDC42BPA | GO:0050878 | regulation of body fluid levels | 4.64e-02 |
CDC42BPA | GO:0140694 | non-membrane-bounded organelle assembly | 4.64e-02 |
CDC42BPA | GO:0042692 | muscle cell differentiation | 4.64e-02 |
CDC42BPA | GO:0042060 | wound healing | 4.64e-02 |
CDC42BPA | GO:0003012 | muscle system process | 4.73e-02 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Distribution of the number of studies mentioning C2orf69-CDC42BPA 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 |
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) |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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 |