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Kinase Fusion Gene:CDC42BPB_HLA-C |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CDC42BPB_HLA-C | KinaseFusionDB ID: KFG1020 | FusionGDB2.0 ID: KFG1020 | Hgene | Tgene | Gene symbol | CDC42BPB | HLA-C | Gene ID | 9578 | 3107 | |
| Gene name | CDC42 binding protein kinase beta | major histocompatibility complex, class I, C | ||||||||||
| Synonyms | CHOCNS|MRCKB | D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1 | ||||||||||
| Cytomap | 14q32.32 | 6p21.33 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | 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 | HLA class I histocompatibility antigen, C alpha chainHLA-C antigenMHC class I antigen heavy chain HLA-Chuman leukocyte antigen-C alpha chainmajor histocompatibility antigen HLA-C | ||||||||||
| Modification date | 20240305 | 20240416 | ||||||||||
| UniProtAcc | Q9Y5S2 | P10321 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000361246, | ENST00000376228, ENST00000383323, ENST00000383329, ENST00000383483, ENST00000383487, ENST00000400341, ENST00000400394, ENST00000400395, ENST00000414249, ENST00000419135, ENST00000419590, ENST00000420206, ENST00000422726, ENST00000422921, ENST00000423509, ENST00000424832, ENST00000429840, ENST00000430940, ENST00000433153, ENST00000434884, ENST00000438171, ENST00000453809, ENST00000456487, ENST00000457903, ENST00000458192, ENST00000458668, ENST00000479546, ENST00000494871, ENST00000495725, ENST00000495898, ENST00000552865, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CDC42BPB [Title/Abstract] AND HLA-C [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CDC42BPB(103455203)-HLA-C(31236529), # 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 | CDC42BPB | GO:0006468 | protein phosphorylation | 21949762 |
| Tgene | HLA-C | GO:0002486 | antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent | 22031944 |
| Kinase Fusion gene breakpoints across CDC42BPB (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 HLA-C (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 | BM148532 | CDC42BPB | chr14 | 103455203 | HLA-C | chr6 | 31236529 |
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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/:103455203/:31236529) - 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 |
| CDC42BPB | HLA-C |
| 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}. | FUNCTION: Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity (PubMed:20972337, PubMed:24091323, PubMed:20439706, PubMed:11172028, PubMed:20104487, PubMed:28649982, PubMed:29312307). In complex with B2M/beta 2 microglobulin displays a restricted repertoire of self and viral peptides and acts as a dominant ligand for inhibitory and activating killer immunoglobulin receptors (KIRs) expressed on NK cells (PubMed:16141329). In an allogeneic setting, such as during pregnancy, mediates interaction of extravillous trophoblasts with KIR on uterine NK cells and regulate trophoblast invasion necessary for placentation and overall fetal growth (PubMed:20972337, PubMed:24091323). During viral infection, may present viral peptides with low affinity for KIRs, impeding KIR-mediated inhibition through peptide antagonism and favoring lysis of infected cells (PubMed:20439706). Presents a restricted repertoire of viral peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-C-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected cells, particularly in chronic viral infection settings such as HIV-1 or CMV infection (PubMed:11172028, PubMed:20104487, PubMed:28649982). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (By similarity). Typically presents intracellular peptide antigens of 9 amino acids that arise from cytosolic proteolysis via proteasome. Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9. Preferentially displays peptides having a restricted repertoire of hydrophobic or aromatic amino acids (Phe, Ile, Leu, Met, Val and Tyr) at the C-terminal anchor (PubMed:8265661, PubMed:25311805). {ECO:0000250|UniProtKB:P04439, ECO:0000269|PubMed:11172028, ECO:0000269|PubMed:16141329, ECO:0000269|PubMed:20104487, ECO:0000269|PubMed:20439706, ECO:0000269|PubMed:20972337, ECO:0000269|PubMed:24091323, ECO:0000269|PubMed:25311805, ECO:0000269|PubMed:28649982, ECO:0000269|PubMed:29312307, ECO:0000269|PubMed:8265661}.; FUNCTION: ALLELE C*01:02: The peptide-bound form interacts with KIR2DL2 and KIR2DL3 inhibitory receptors on NK cells. The low affinity peptides compete with the high affinity peptides impeding KIR-mediated inhibition and favoring lysis of infected cells (PubMed:20439706). Presents to CD8-positive T cells a CMV epitope derived from UL83/pp65 (RCPEMISVL), an immediate-early antigen necessary for initiating viral replication (PubMed:12947002). {ECO:0000269|PubMed:12947002, ECO:0000269|PubMed:20439706}.; FUNCTION: ALLELE C*04:01: Presents a conserved HIV-1 epitope derived from env (SFNCGGEFF) to memory CD8-positive T cells, eliciting very strong IFNG responses (PubMed:20104487). Presents CMV epitope derived from UL83/pp65 (QYDPVAALF) to CD8-positive T cells, triggering T cell cytotoxic response (PubMed:12947002). {ECO:0000269|PubMed:12947002, ECO:0000269|PubMed:20104487}.; FUNCTION: ALLELE C*05:01: Presents HIV-1 epitope derived from rev (SAEPVPLQL) to CD8-positive T cells, triggering T cell cytotoxic response. {ECO:0000269|PubMed:11172028}.; FUNCTION: ALLELE C*06:02: In trophoblasts, interacts with KIR2DS2 on uterine NK cells and triggers NK cell activation, including secretion of cytokines such as GMCSF that enhances trophoblast migration. {ECO:0000269|PubMed:24091323}.; FUNCTION: ALLELE C*07:02: Plays an important role in the control of chronic CMV infection. Presents immunodominant CMV epitopes derived from IE1 (LSEFCRVL and CRVLCCYVL) and UL28 (FRCPRRFCF), both antigens synthesized during immediate-early period of viral replication. Elicits a strong anti-viral CD8-positive T cell immune response that increases markedly with age. {ECO:0000269|PubMed:29312307}.; FUNCTION: ALLELE C*08:01: Presents viral epitopes derived from CMV UL83 (VVCAHELVC) and IAV M1 (GILGFVFTL), triggering CD8-positive T cell cytotoxic response. {ECO:0000269|PubMed:12947002, ECO:0000269|PubMed:24990997}.; FUNCTION: ALLELE C*12:02: Presents CMV epitope derived from UL83 (VAFTSHEHF) to CD8-positive T cells. {ECO:0000269|PubMed:12947002}.; FUNCTION: ALLELE C*15:02: Presents CMV epitope derived from UL83 CC (VVCAHELVC) to CD8-positive T cells, triggering T cell cytotoxic response. {ECO:0000269|PubMed:12947002}. |
| 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 CDC42BPB_HLA-C |
| 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 CDC42BPB_HLA-C |
| 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 CDC42BPB-HLA-C 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 CDC42BPB_HLA-C |
| 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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