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Kinase Fusion Gene:ARAF_VDR |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: ARAF_VDR | KinaseFusionDB ID: KFG404 | FusionGDB2.0 ID: KFG404 | Hgene | Tgene | Gene symbol | ARAF | VDR | Gene ID | 369 | 7421 | |
| Gene name | A-Raf proto-oncogene, serine/threonine kinase | vitamin D receptor | ||||||||||
| Synonyms | A-RAF|ARAF1|PKS2|RAFA1 | NR1I1|PPP1R163 | ||||||||||
| Cytomap | Xp11.3 | 12q13.11 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase A-RafA-Raf proto-oncogene serine/threonine-protein kinaseOncogene ARAF1Ras-binding protein DA-Rafproto-oncogene A-Raf-1proto-oncogene Pksv-raf murine sarcoma 3611 viral oncogene homolog 1v-raf murine sarcoma 3611 vir | vitamin D3 receptor1,25-dihydroxyvitamin D3 receptornuclear receptor subfamily 1 group I member 1protein phosphatase 1, regulatory subunit 163vitamin D (1,25- dihydroxyvitamin D3) receptor | ||||||||||
| Modification date | 20240407 | 20240416 | ||||||||||
| UniProtAcc | P10398 | P11473 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000290277, ENST00000377039, ENST00000377045, ENST00000470206, | ENST00000229022, ENST00000395324, ENST00000535672, ENST00000549336, ENST00000550325, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ARAF [Title/Abstract] AND VDR [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ARAF(47424718)-VDR(48328907), # 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 | ARAF | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
| Hgene | ARAF | GO:0043066 | negative regulation of apoptotic process | 19667065 |
| Tgene | VDR | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17426122 |
| Tgene | VDR | GO:0008285 | negative regulation of cell population proliferation | 16549446 |
| Tgene | VDR | GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity | 16549446 |
| Tgene | VDR | GO:0035435 | phosphate ion transmembrane transport | 32354638 |
| Tgene | VDR | GO:0038183 | bile acid signaling pathway | 12016314 |
| Tgene | VDR | GO:0042789 | mRNA transcription by RNA polymerase II | 20171278 |
| Tgene | VDR | GO:0045892 | negative regulation of DNA-templated transcription | 11891224 |
| Tgene | VDR | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20171278 |
| Tgene | VDR | GO:0070561 | vitamin D receptor signaling pathway | 16549446 |
| Tgene | VDR | GO:0070564 | positive regulation of vitamin D receptor signaling pathway | 20171278 |
| Tgene | VDR | GO:1903412 | response to bile acid | 12016314|32354638 |
| Kinase Fusion gene breakpoints across ARAF (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 VDR (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 | DD229674 | ARAF | chrX | 47424718 | VDR | chr12 | 48328907 |
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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/:47424718/:48328907) - 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 |
| ARAF | VDR |
| FUNCTION: Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade. Phosphorylates PFKFB2 (PubMed:36402789). {ECO:0000269|PubMed:22609986, ECO:0000269|PubMed:36402789}.; FUNCTION: [Isoform 2]: Serves as a positive regulator of myogenic differentiation by inducing cell cycle arrest, the expression of myogenin and other muscle-specific proteins, and myotube formation. {ECO:0000269|PubMed:22609986}. | FUNCTION: Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells (PubMed:28698609, PubMed:16913708, PubMed:15728261, PubMed:10678179). Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR (PubMed:28698609). The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes (PubMed:28698609). Plays a central role in calcium homeostasis (By similarity). Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites (PubMed:12016314, PubMed:32354638). {ECO:0000250|UniProtKB:P13053, ECO:0000269|PubMed:10678179, ECO:0000269|PubMed:12016314, ECO:0000269|PubMed:15728261, ECO:0000269|PubMed:16913708, ECO:0000269|PubMed:28698609, ECO:0000269|PubMed:32354638}. |
| 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 ARAF_VDR |
| 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 |
| ARAF | P10398 | human | MAP2K1 | Q02750 | S222 | LIDsMANsFVGtRSY | Pkinase |
| ARAF | P10398 | human | MAP2K1 | Q02750 | S218 | VsGQLIDsMANsFVG | Pkinase |
| ARAF | P10398 | human | BAD | Q92934 | S99 | PFrGrsRsAPPNLWA | Bcl-2_BAD |
| ARAF | P10398 | human | BAD | Q92934 | S75 | EIRsRHssyPAGtED | Bcl-2_BAD |
| ARAF | P10398 | human | SLC9A3R2 | Q15599 | S303 | QEsGLHLsPtAAEAK | EBP50_C |
| ARAF | P10398 | human | BAD | Q92934 | S118 | GRELRRMsDEFVDsF | Bcl-2_BAD |
| 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 |
| ARAF | ID | Description | 0.00e+00 |
| ARAF | GO:0044342 | type B pancreatic cell proliferation | 5.44e-04 |
| ARAF | GO:0035270 | endocrine system development | 6.90e-03 |
| ARAF | GO:0033674 | positive regulation of kinase activity | 2.26e-02 |
| ARAF | GO:0051347 | positive regulation of transferase activity | 2.26e-02 |
| ARAF | GO:0010720 | positive regulation of cell development | 2.26e-02 |
| ARAF | GO:0050673 | epithelial cell proliferation | 2.26e-02 |
| ARAF | GO:0008627 | intrinsic apoptotic signaling pathway in response to osmotic stress | 2.26e-02 |
| ARAF | GO:0010918 | positive regulation of mitochondrial membrane potential | 2.26e-02 |
| ARAF | GO:0060502 | epithelial cell proliferation involved in lung morphogenesis | 2.26e-02 |
| ARAF | GO:0060020 | Bergmann glial cell differentiation | 2.26e-02 |
| ARAF | GO:0060439 | trachea morphogenesis | 2.26e-02 |
| ARAF | GO:0106049 | regulation of cellular response to osmotic stress | 2.26e-02 |
| ARAF | GO:0097202 | activation of cysteine-type endopeptidase activity | 2.26e-02 |
| ARAF | GO:0045838 | positive regulation of membrane potential | 2.26e-02 |
| ARAF | GO:0048308 | organelle inheritance | 2.26e-02 |
| ARAF | GO:0048313 | Golgi inheritance | 2.26e-02 |
| ARAF | GO:0045579 | positive regulation of B cell differentiation | 2.26e-02 |
| ARAF | GO:0047484 | regulation of response to osmotic stress | 2.26e-02 |
| ARAF | GO:1903358 | regulation of Golgi organization | 2.26e-02 |
| ARAF | GO:0046931 | pore complex assembly | 2.26e-02 |
| ARAF | GO:0060438 | trachea development | 2.26e-02 |
| ARAF | GO:2000641 | regulation of early endosome to late endosome transport | 2.26e-02 |
| ARAF | GO:0009135 | purine nucleoside diphosphate metabolic process | 2.26e-02 |
| ARAF | GO:0009179 | purine ribonucleoside diphosphate metabolic process | 2.26e-02 |
| ARAF | GO:0003323 | type B pancreatic cell development | 2.35e-02 |
| ARAF | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 2.35e-02 |
| ARAF | GO:0021697 | cerebellar cortex formation | 2.35e-02 |
| ARAF | GO:0006007 | glucose catabolic process | 2.35e-02 |
| ARAF | GO:0003309 | type B pancreatic cell differentiation | 2.35e-02 |
| ARAF | GO:0009185 | ribonucleoside diphosphate metabolic process | 2.35e-02 |
| ARAF | GO:0035774 | positive regulation of insulin secretion involved in cellular response to glucose stimulus | 2.35e-02 |
| ARAF | GO:0048679 | regulation of axon regeneration | 2.35e-02 |
| ARAF | GO:0030878 | thyroid gland development | 2.35e-02 |
| ARAF | GO:0060674 | placenta blood vessel development | 2.35e-02 |
| ARAF | GO:0070570 | regulation of neuron projection regeneration | 2.35e-02 |
| ARAF | GO:1903649 | regulation of cytoplasmic transport | 2.35e-02 |
| ARAF | GO:0045577 | regulation of B cell differentiation | 2.35e-02 |
| ARAF | GO:0002068 | glandular epithelial cell development | 2.35e-02 |
| ARAF | GO:0021696 | cerebellar cortex morphogenesis | 2.35e-02 |
| ARAF | GO:0009132 | nucleoside diphosphate metabolic process | 2.35e-02 |
| ARAF | GO:0035883 | enteroendocrine cell differentiation | 2.35e-02 |
| ARAF | GO:0019320 | hexose catabolic process | 2.35e-02 |
| ARAF | GO:0021587 | cerebellum morphogenesis | 2.35e-02 |
| ARAF | GO:0045022 | early endosome to late endosome transport | 2.35e-02 |
| ARAF | GO:0060428 | lung epithelium development | 2.35e-02 |
| ARAF | GO:0090199 | regulation of release of cytochrome c from mitochondria | 2.35e-02 |
| ARAF | GO:0031018 | endocrine pancreas development | 2.35e-02 |
| ARAF | GO:0060711 | labyrinthine layer development | 2.35e-02 |
| ARAF | GO:0021575 | hindbrain morphogenesis | 2.35e-02 |
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Related Drugs to ARAF_VDR |
| 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 ARAF-VDR 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 ARAF_VDR |
| 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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