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Kinase Fusion Gene:RORA_PRPF4B |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: RORA_PRPF4B | KinaseFusionDB ID: KFG5487 | FusionGDB2.0 ID: KFG5487 | Hgene | Tgene | Gene symbol | RORA | PRPF4B | Gene ID | 6095 | 8899 | |
| Gene name | RAR related orphan receptor A | pre-mRNA processing factor kinase PRP4K | ||||||||||
| Synonyms | IDDECA|NR1F1|ROR1|ROR2|ROR3|RORa1|RORalpha|RZR-ALPHA|RZRA | PR4H|PRP4|PRP4H|PRPF4B|Prp4B|dJ1013A10.1 | ||||||||||
| Cytomap | 15q22.2 | 6p25.2 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | nuclear receptor ROR-alphaRAR-related orphan nuclear receptor alphaROR-alphanuclear receptor RZR-alphanuclear receptor subfamily 1 group F member 1retinoic acid receptor-related orphan receptor alpharetinoid-related orphan receptor alphatranscripti | 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 | ||||||||||
| Modification date | 20240403 | 20240413 | ||||||||||
| UniProtAcc | P35398 | Q13523 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000335670, ENST00000261523, ENST00000309157, ENST00000449337, ENST00000560004, | ENST00000538861, ENST00000337659, ENST00000494674, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RORA [Title/Abstract] AND PRPF4B [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RORA(61521252)-PRPF4B(4031793), # 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 | RORA | GO:0006355 | regulation of DNA-templated transcription | 9328355 |
| Hgene | RORA | GO:0030522 | intracellular receptor signaling pathway | 19965867 |
| Hgene | RORA | GO:0036315 | cellular response to sterol | 19965867 |
| Hgene | RORA | GO:0045893 | positive regulation of DNA-templated transcription | 7926749 |
| Hgene | RORA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17545671|19955433 |
| Tgene | PRPF4B | GO:0000244 | spliceosomal tri-snRNP complex assembly | 20118938 |
| Tgene | PRPF4B | GO:0000387 | spliceosomal snRNP assembly | 12077342 |
| Tgene | PRPF4B | GO:0090266 | regulation of mitotic cell cycle spindle assembly checkpoint | 17998396 |
| Kinase Fusion gene breakpoints across RORA (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 PRPF4B (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-06-0238-01A | RORA | chr15 | 61521252 | PRPF4B | chr6 | 4031793 |
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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/:61521252/:4031793) - 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 |
| RORA | PRPF4B |
| FUNCTION: Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target genes regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates genes involved in photoreceptor development including OPN1SW, OPN1SM and ARR3 and skeletal muscle development with MYOD1. Required for proper cerebellum development (PubMed:29656859). Regulates SHH gene expression, among others, to induce granule cells proliferation as well as expression of genes involved in calcium-mediated signal transduction. Regulates the circadian expression of several clock genes, including CLOCK, BMAL1, NPAS2 and CRY1. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORA-mediated activation of clock genes expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Regulates genes involved in lipid metabolism such as apolipoproteins APOA1, APOA5, APOC3 and PPARG. In liver, has specific and redundant functions with RORC as positive or negative modulator of expression of genes encoding phase I and phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as CYP7B1 and SULT2A1. Induces a rhythmic expression of some of these genes. In addition, interplays functionally with NR1H2 and NR1H3 for the regulation of genes involved in cholesterol metabolism. Also involved in the regulation of hepatic glucose metabolism through the modulation of G6PC1 and PCK1. In adipose tissue, plays a role as negative regulator of adipocyte differentiation, probably acting through dual mechanisms. May suppress CEBPB-dependent adipogenesis through direct interaction and PPARG-dependent adipogenesis through competition for DNA-binding. Downstream of IL6 and TGFB and synergistically with RORC isoform 2, is implicated in the lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Involved in hypoxia signaling by interacting with and activating the transcriptional activity of HIF1A. May inhibit cell growth in response to cellular stress. May exert an anti-inflammatory role by inducing CHUK expression and inhibiting NF-kappa-B signaling. {ECO:0000269|PubMed:10478845, ECO:0000269|PubMed:11053433, ECO:0000269|PubMed:11252722, ECO:0000269|PubMed:11554739, ECO:0000269|PubMed:12467577, ECO:0000269|PubMed:14570920, ECO:0000269|PubMed:15781255, ECO:0000269|PubMed:15790933, ECO:0000269|PubMed:16462772, ECO:0000269|PubMed:17512500, ECO:0000269|PubMed:18005000, ECO:0000269|PubMed:18354202, ECO:0000269|PubMed:18658046, ECO:0000269|PubMed:19965867, ECO:0000269|PubMed:21499262, ECO:0000269|PubMed:29656859, ECO:0000269|PubMed:7926749, ECO:0000269|PubMed:9328355, ECO:0000269|PubMed:9862959}. | FUNCTION: Has a role in pre-mRNA splicing. Phosphorylates SF2/ASF. |
| 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 RORA_PRPF4B |
| 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 RORA_PRPF4B |
| 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 RORA-PRPF4B 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 RORA_PRPF4B |
| 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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