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Kinase Fusion Gene:PRPF4B_CDYL |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: PRPF4B_CDYL | KinaseFusionDB ID: KFG5061 | FusionGDB2.0 ID: KFG5061 | Hgene | Tgene | Gene symbol | PRPF4B | CDYL | Gene ID | 8899 | 9425 | |
| Gene name | pre-mRNA processing factor kinase PRP4K | chromodomain Y like | ||||||||||
| Synonyms | PR4H|PRP4|PRP4H|PRPF4B|Prp4B|dJ1013A10.1 | CDYL1 | ||||||||||
| Cytomap | 6p25.2 | 6p25.1 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase PRP4 homologPRP4 kinasePRP4 pre-mRNA processing factor 4 homolog BPRP4 pre-mRNA-processing factor 4 homologdJ1013A10.1 (PRP4 protein kinase homolog)pre-mRNA processing factor 4Bprotein-serine/threonine kinase | chromodomain Y-like proteinCDY-like, autosomalchromodomain protein, Y-likecrotonyl-CoA hydratasetestis-specific chromodomain Y-like protein | ||||||||||
| Modification date | 20240413 | 20240305 | ||||||||||
| UniProtAcc | Q13523 | Q9Y232 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000337659, ENST00000494674, ENST00000538861, | ENST00000343762, ENST00000449732, ENST00000472453, ENST00000328908, ENST00000397588, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: PRPF4B [Title/Abstract] AND CDYL [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PRPF4B(4021700)-CDYL(4952500), # samples:2 PRPF4B(4021700)-CDYL(4935749), # samples:2 | |||||||||||
| 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 | PRPF4B | GO:0000244 | spliceosomal tri-snRNP complex assembly | 20118938 |
| Hgene | PRPF4B | GO:0000387 | spliceosomal snRNP assembly | 12077342 |
| Hgene | PRPF4B | GO:0090266 | regulation of mitotic cell cycle spindle assembly checkpoint | 17998396 |
| Tgene | CDYL | GO:0120094 | negative regulation of peptidyl-lysine crotonylation | 28803779 |
| Kinase Fusion gene breakpoints across PRPF4B (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 CDYL (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-78-7542-01A | PRPF4B | chr6 | 4021700 | CDYL | chr6 | 4935749 |
| ChimerDB4 | TCGA-78-7542 | PRPF4B | chr6 | 4021700 | CDYL | chr6 | 4935748 |
| ChimerDB4 | TCGA-BH-A0HB-01A | PRPF4B | chr6 | 4021700 | CDYL | chr6 | 4952500 |
| ChimerDB4 | TCGA-BH-A0HB-01A | PRPF4B | chr6 | 4021700 | CDYL | chr6 | 4954132 |
| ChimerDB4 | TCGA-BH-A0HB | PRPF4B | chr6 | 4021700 | CDYL | chr6 | 4952499 |
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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/:4021700/:4952500) - 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 |
| PRPF4B | CDYL |
| FUNCTION: Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF. | FUNCTION: [Isoform 2]: Chromatin reader protein that recognizes and binds histone H3 trimethylated at 'Lys-9', dimethylated at 'Lys-27' and trimethylated at 'Lys-27' (H3K9me3, H3K27me2 and H3K27me3, respectively) (PubMed:19808672, PubMed:28402439). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape (PubMed:28402439). Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing histone H3K27me3 and newly recruited PRC2 on neighboring nucleosomes (PubMed:22009739). Acts as a corepressor for REST by facilitating histone-lysine N-methyltransferase EHMT2 recruitment and H3K9 dimethylation at REST target genes for repression (PubMed:19061646). Involved in X chromosome inactivation in females: recruited to Xist RNA-coated X chromosome and facilitates propagation of H3K9me2 by anchoring EHMT2 (By similarity). Promotes EZH2 accumulation and H3K27me3 methylation at DNA double strand breaks (DSBs), thereby facilitating transcriptional repression at sites of DNA damage and homology-directed repair of DSBs (PubMed:29177481). Required for neuronal migration during brain development by repressing expression of RHOA (By similarity). By repressing the expression of SCN8A, contributes to the inhibition of intrinsic neuronal excitability and epileptogenesis (By similarity). In addition to acting as a chromatin reader, acts as a hydro-lyase (PubMed:28803779). Shows crotonyl-coA hydratase activity by mediating the conversion of crotonyl-CoA ((2E)-butenoyl-CoA) to beta-hydroxybutyryl-CoA (3-hydroxybutanoyl-CoA), thereby acting as a negative regulator of histone crotonylation (PubMed:28803779). Histone crotonylation is required during spermatogenesis; down-regulation of histone crotonylation by CDYL regulates the reactivation of sex chromosome-linked genes in round spermatids and histone replacement in elongating spermatids (By similarity). By regulating histone crotonylation and trimethylation of H3K27, may be involved in stress-induced depression-like behaviors, possibly by regulating VGF expression (By similarity). {ECO:0000250|UniProtKB:Q9WTK2, ECO:0000269|PubMed:19061646, ECO:0000269|PubMed:19808672, ECO:0000269|PubMed:22009739, ECO:0000269|PubMed:28402439, ECO:0000269|PubMed:28803779, ECO:0000269|PubMed:29177481}.; FUNCTION: [Isoform 1]: Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the presence of a N-terminal extension that inactivates the chromo domain (PubMed:19808672). {ECO:0000269|PubMed:19808672}.; FUNCTION: [Isoform 3]: Not able to recognize and bind histone H3K9me3, histone H3K27me2 and histone H3K27me3, due to the absence of the chromo domain (PubMed:19808672). Acts as a negative regulator of isoform 2 by displacing isoform 2 from chromatin. {ECO:0000269|PubMed:19808672}. |
| 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 PRPF4B_CDYL |
| 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 |
| PRPF4B | Q13523 | human | ELK1 | P19419 | T417 | ISVDGLstPVVLsPG |
| 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 |
| PRPF4B | ID | Description | 0.00e+00 |
| PRPF4B | GO:0071394 | cellular response to testosterone stimulus | 1.34e-02 |
| PRPF4B | GO:0071480 | cellular response to gamma radiation | 1.42e-02 |
| PRPF4B | GO:0033574 | response to testosterone | 1.42e-02 |
| PRPF4B | GO:0010332 | response to gamma radiation | 1.42e-02 |
| PRPF4B | GO:0071479 | cellular response to ionizing radiation | 1.56e-02 |
| PRPF4B | GO:1901655 | cellular response to ketone | 1.59e-02 |
| PRPF4B | GO:0071774 | response to fibroblast growth factor | 1.59e-02 |
| PRPF4B | GO:0010212 | response to ionizing radiation | 1.59e-02 |
| PRPF4B | GO:0001889 | liver development | 1.59e-02 |
| PRPF4B | GO:0061008 | hepaticobiliary system development | 1.59e-02 |
| PRPF4B | GO:0071478 | cellular response to radiation | 1.59e-02 |
| PRPF4B | GO:0030324 | lung development | 1.59e-02 |
| PRPF4B | GO:0030323 | respiratory tube development | 1.59e-02 |
| PRPF4B | GO:1901654 | response to ketone | 1.59e-02 |
| PRPF4B | GO:0060541 | respiratory system development | 1.59e-02 |
| PRPF4B | GO:0051402 | neuron apoptotic process | 1.93e-02 |
| PRPF4B | GO:0009416 | response to light stimulus | 1.96e-02 |
| PRPF4B | GO:0071214 | cellular response to abiotic stimulus | 1.96e-02 |
| PRPF4B | GO:0104004 | cellular response to environmental stimulus | 1.96e-02 |
| PRPF4B | GO:0009314 | response to radiation | 2.35e-02 |
| PRPF4B | GO:0048732 | gland development | 2.35e-02 |
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Related Drugs to PRPF4B_CDYL |
| 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 PRPF4B-CDYL 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 PRPF4B_CDYL |
| 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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