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Kinase Fusion Gene:SLC25A3_CDC42BPB |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: SLC25A3_CDC42BPB | KinaseFusionDB ID: KFG5863 | FusionGDB2.0 ID: KFG5863 | Hgene | Tgene | Gene symbol | SLC25A3 | CDC42BPB | Gene ID | 5250 | 9578 | |
| Gene name | solute carrier family 25 member 3 | CDC42 binding protein kinase beta | ||||||||||
| Synonyms | OK/SW-cl.48|PHC|PTP|PiC | CHOCNS|MRCKB | ||||||||||
| Cytomap | 12q23.1 | 14q32.32 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | solute carrier family 25 member 3phosphate transport proteinsolute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 | serine/threonine-protein kinase MRCK betaCDC42 binding protein kinase beta (DMPK-like)CDC42BP-betaDMPK-like betaMRCK betamyotonic dystrophy kinase-related CDC42-binding kinase betamyotonic dystrophy protein kinase-like beta | ||||||||||
| Modification date | 20240411 | 20240305 | ||||||||||
| UniProtAcc | Q9H2D1 | Q9Y5S2 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000188376, ENST00000548847, ENST00000228318, ENST00000401722, ENST00000547534, ENST00000549338, ENST00000551265, ENST00000551917, ENST00000552981, | ENST00000361246, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: SLC25A3 [Title/Abstract] AND CDC42BPB [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SLC25A3(98987693)-CDC42BPB(103410290), # 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 |
| Tgene | CDC42BPB | GO:0006468 | protein phosphorylation | 21949762 |
| Kinase Fusion gene breakpoints across SLC25A3 (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 CDC42BPB (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 |
| ChiTaRS5.0 | BQ674428 | SLC25A3 | chr12 | 98987693 | CDC42BPB | chr14 | 103410290 |
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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/:98987693/:103410290) - 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 |
| SLC25A3 | CDC42BPB |
| FUNCTION: Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neural tube closure in early embryogenesis. {ECO:0000269|PubMed:16165386, ECO:0000269|PubMed:29666258, ECO:0000269|PubMed:35727412}. | 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. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715, PubMed:21949762). 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 (PubMed:21457715). 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). {ECO:0000250|UniProtKB:Q7TT50, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949762}. |
| 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 SLC25A3_CDC42BPB |
| 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 |
| CDC42BPB | Q9Y5S2 | human | CDC42BPB | Q9Y5S2 | T1108 | HVKVPKPtGVKKGWQ | |
| CDC42BPB | Q9Y5S2 | human | SIAH2 | O43255 | S6 | __MsRPSstGPsANk | |
| CDC42BPB | Q9Y5S2 | human | SIAH2 | O43255 | T279 | RRLTWEAtPRSIHDG | Sina |
| 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 |
| CDC42BPB | ID | Description | 0.00e+00 |
| CDC42BPB | GO:1990000 | amyloid fibril formation | 4.01e-02 |
| CDC42BPB | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 4.01e-02 |
| CDC42BPB | GO:2000117 | negative regulation of cysteine-type endopeptidase activity | 4.01e-02 |
| CDC42BPB | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway | 4.01e-02 |
| CDC42BPB | GO:0018107 | peptidyl-threonine phosphorylation | 4.01e-02 |
| CDC42BPB | GO:0018210 | peptidyl-threonine modification | 4.01e-02 |
| CDC42BPB | GO:0042752 | regulation of circadian rhythm | 4.01e-02 |
| CDC42BPB | GO:0010951 | negative regulation of endopeptidase activity | 4.01e-02 |
| CDC42BPB | GO:0010466 | negative regulation of peptidase activity | 4.01e-02 |
| CDC42BPB | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 4.01e-02 |
| CDC42BPB | GO:2001236 | regulation of extrinsic apoptotic signaling pathway | 4.01e-02 |
| CDC42BPB | GO:0043281 | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 4.01e-02 |
| CDC42BPB | GO:0030178 | negative regulation of Wnt signaling pathway | 4.01e-02 |
| CDC42BPB | GO:2000116 | regulation of cysteine-type endopeptidase activity | 4.01e-02 |
| CDC42BPB | GO:0031396 | regulation of protein ubiquitination | 4.01e-02 |
| CDC42BPB | GO:0007623 | circadian rhythm | 4.01e-02 |
| CDC42BPB | GO:0031032 | actomyosin structure organization | 4.01e-02 |
| CDC42BPB | GO:0051346 | negative regulation of hydrolase activity | 4.01e-02 |
| CDC42BPB | GO:0007163 | establishment or maintenance of cell polarity | 4.01e-02 |
| CDC42BPB | GO:0097191 | extrinsic apoptotic signaling pathway | 4.01e-02 |
| CDC42BPB | GO:0045861 | negative regulation of proteolysis | 4.01e-02 |
| CDC42BPB | GO:1903320 | regulation of protein modification by small protein conjugation or removal | 4.01e-02 |
| CDC42BPB | GO:2001234 | negative regulation of apoptotic signaling pathway | 4.01e-02 |
| CDC42BPB | GO:0060828 | regulation of canonical Wnt signaling pathway | 4.12e-02 |
| CDC42BPB | GO:1901873 | regulation of post-translational protein modification | 4.12e-02 |
| CDC42BPB | GO:0052548 | regulation of endopeptidase activity | 4.12e-02 |
| CDC42BPB | GO:0048511 | rhythmic process | 4.12e-02 |
| CDC42BPB | GO:0052547 | regulation of peptidase activity | 4.12e-02 |
| CDC42BPB | GO:0060070 | canonical Wnt signaling pathway | 4.12e-02 |
| CDC42BPB | GO:0030111 | regulation of Wnt signaling pathway | 4.26e-02 |
| CDC42BPB | GO:2001233 | regulation of apoptotic signaling pathway | 4.85e-02 |
| CDC42BPB | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 5.11e-02 |
| CDC42BPB | GO:0016055 | Wnt signaling pathway | 5.11e-02 |
| CDC42BPB | GO:0198738 | cell-cell signaling by wnt | 5.11e-02 |
| CDC42BPB | GO:0043086 | negative regulation of catalytic activity | 5.14e-02 |
| CDC42BPB | GO:0007264 | small GTPase mediated signal transduction | 5.14e-02 |
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Related Drugs to SLC25A3_CDC42BPB |
| 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 SLC25A3-CDC42BPB 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 SLC25A3_CDC42BPB |
| 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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