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Kinase Fusion Gene:BRAF_ADCK2 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: BRAF_ADCK2 | KinaseFusionDB ID: KFG691 | FusionGDB2.0 ID: KFG691 | Hgene | Tgene | Gene symbol | BRAF | ADCK2 | Gene ID | 673 | 90956 | |
| Gene name | B-Raf proto-oncogene, serine/threonine kinase | aarF domain containing kinase 2 | ||||||||||
| Synonyms | B-RAF1|B-raf|BRAF-1|BRAF1|NS7|RAFB1 | AARF | ||||||||||
| Cytomap | 7q34 | 7q34 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | serine/threonine-protein kinase B-raf94 kDa B-raf proteinB-Raf proto-oncogene serine/threonine-protein kinase (p94)B-Raf serine/threonine-proteinmurine sarcoma viral (v-raf) oncogene homolog B1proto-oncogene B-Rafv-raf murine sarcoma viral oncogene | uncharacterized aarF domain-containing protein kinase 2putative ubiquinone biosynthesis protein AarF | ||||||||||
| Modification date | 20240416 | 20240403 | ||||||||||
| UniProtAcc | P15056 | Q7Z695 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000288602, | ENST00000072869, ENST00000476491, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: BRAF [Title/Abstract] AND ADCK2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BRAF(140624366)-ADCK2(140389397), # 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 | BRAF | GO:0000165 | MAPK cascade | 18567582|29433126 |
| Hgene | BRAF | GO:0006468 | protein phosphorylation | 17563371 |
| Hgene | BRAF | GO:0007173 | epidermal growth factor receptor signaling pathway | 18567582 |
| Hgene | BRAF | GO:0010828 | positive regulation of glucose transmembrane transport | 23010278 |
| Hgene | BRAF | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
| Hgene | BRAF | GO:0043066 | negative regulation of apoptotic process | 19667065 |
| Hgene | BRAF | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 22065586 |
| Hgene | BRAF | GO:0071277 | cellular response to calcium ion | 18567582 |
| Hgene | BRAF | GO:0090150 | establishment of protein localization to membrane | 23010278 |
| Tgene | ADCK2 | GO:0010795 | regulation of ubiquinone biosynthetic process | 31480808 |
| Kinase Fusion gene breakpoints across BRAF (5'-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 breakpoints across ADCK2 (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-BR-A4J9-01A | BRAF | chr7 | 140624366 | ADCK2 | chr7 | 140389397 |
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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/chr7:140624366/chr7:140389397) - 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 |
| BRAF | ADCK2 |
| FUNCTION: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179). {ECO:0000269|PubMed:1508179, ECO:0000269|PubMed:21441910, ECO:0000269|PubMed:29433126, ECO:0000269|PubMed:36402789, ECO:0000305}. | FUNCTION: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable). Involved in the mitochondrial import of CoQ precursors, plays a role in muscle mitochondrial function and fatty acid beta-oxidation (PubMed:31480808). {ECO:0000269|PubMed:31480808, ECO:0000305}. |
| 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 BRAF_ADCK2 |
| 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 |
| BRAF | P15056 | human | SLC9A1 | P19634 | T653 | LRsYNRHtLVADPyE | NEXCaM_BD |
| BRAF | P15056 | human | EEF1A1 | P68104 | T88 | EtSkyyVtIIDAPGH | GTP_EFTU |
| BRAF | P15056 | human | BRAF | P15056 | S465 | tVGQRIGsGsFGtVY | PK_Tyr_Ser-Thr |
| BRAF | P15056 | human | MAP2K1 | Q02750 | S222 | LIDsMANsFVGtRSY | Pkinase |
| BRAF | P15056 | human | EEF1A2 | Q05639 | S21 | GHVDSGkstttGHLI | GTP_EFTU |
| BRAF | P15056 | human | MAP2K1 | Q02750 | S218 | VsGQLIDsMANsFVG | Pkinase |
| BRAF | P15056 | human | TTK | P33981 | S281 | VPVNLLNsPDCDVkt | |
| BRAF | P15056 | human | BAD | Q92934 | S99 | PFrGrsRsAPPNLWA | Bcl-2_BAD |
| BRAF | P15056 | human | MAP2K2 | P36507 | S222 | VsGQLIDsMANsFVG | Pkinase |
| BRAF | P15056 | human | BAD | Q92934 | S75 | EIRsRHssyPAGtED | Bcl-2_BAD |
| BRAF | P15056 | human | NANOG | Q9H9S0 | S68 | LIQDsPDsStsPKGK | |
| BRAF | P15056 | human | EEF1A1 | P68104 | S21 | GHVDSGkstttGHLI | GTP_EFTU |
| BRAF | P15056 | human | BRAF | P15056 | S614 | SHQFEQLsGSILWMA | PK_Tyr_Ser-Thr |
| BRAF | P15056 | human | BAD | Q92934 | S118 | GRELRRMsDEFVDsF | Bcl-2_BAD |
| BRAF | P15056 | human | BRAF | P15056 | S467 | GQRIGsGsFGtVYkG | PK_Tyr_Ser-Thr |
| BRAF | P15056 | human | BRAF | P15056 | T373 | APNVHINtIEPVNID | |
| BRAF | P15056 | human | MAP2K2 | P36507 | S226 | LIDsMANsFVGtRSY | Pkinase |
| BRAF | P15056 | human | TTK | P33981 | S436 | VFSVskQsPPIsTSk | |
| BRAF | P15056 | human | BAD | Q92934 | S134 | KGLPRPKsAGtAtQM | 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 |
| BRAF | ID | Description | 0.00e+00 |
| BRAF | GO:0048679 | regulation of axon regeneration | 5.62e-05 |
| BRAF | GO:0030878 | thyroid gland development | 5.62e-05 |
| BRAF | GO:0035270 | endocrine system development | 5.62e-05 |
| BRAF | GO:0070570 | regulation of neuron projection regeneration | 5.62e-05 |
| BRAF | GO:0048538 | thymus development | 1.42e-04 |
| BRAF | GO:0031103 | axon regeneration | 1.42e-04 |
| BRAF | GO:0060324 | face development | 1.42e-04 |
| BRAF | GO:0031102 | neuron projection regeneration | 1.74e-04 |
| BRAF | GO:0050772 | positive regulation of axonogenesis | 3.79e-04 |
| BRAF | GO:0048678 | response to axon injury | 4.26e-04 |
| BRAF | GO:0060502 | epithelial cell proliferation involved in lung morphogenesis | 5.02e-04 |
| BRAF | GO:0060439 | trachea morphogenesis | 5.09e-04 |
| BRAF | GO:0048534 | hematopoietic or lymphoid organ development | 5.09e-04 |
| BRAF | GO:0033674 | positive regulation of kinase activity | 5.09e-04 |
| BRAF | GO:0048308 | organelle inheritance | 7.57e-04 |
| BRAF | GO:0048313 | Golgi inheritance | 7.57e-04 |
| BRAF | GO:0061684 | chaperone-mediated autophagy | 7.57e-04 |
| BRAF | GO:1903358 | regulation of Golgi organization | 8.17e-04 |
| BRAF | GO:0051347 | positive regulation of transferase activity | 8.44e-04 |
| BRAF | GO:0060438 | trachea development | 9.59e-04 |
| BRAF | GO:2000641 | regulation of early endosome to late endosome transport | 9.59e-04 |
| BRAF | GO:0010720 | positive regulation of cell development | 9.59e-04 |
| BRAF | GO:0050770 | regulation of axonogenesis | 1.21e-03 |
| BRAF | GO:1903034 | regulation of response to wounding | 1.55e-03 |
| BRAF | GO:0044342 | type B pancreatic cell proliferation | 1.85e-03 |
| BRAF | GO:0031099 | regeneration | 1.92e-03 |
| BRAF | GO:0002520 | immune system development | 2.09e-03 |
| BRAF | GO:1903649 | regulation of cytoplasmic transport | 2.16e-03 |
| BRAF | GO:0043550 | regulation of lipid kinase activity | 3.11e-03 |
| BRAF | GO:0050769 | positive regulation of neurogenesis | 3.35e-03 |
| BRAF | GO:0045022 | early endosome to late endosome transport | 3.60e-03 |
| BRAF | GO:0060428 | lung epithelium development | 3.60e-03 |
| BRAF | GO:0035987 | endodermal cell differentiation | 4.20e-03 |
| BRAF | GO:0098927 | vesicle-mediated transport between endosomal compartments | 4.20e-03 |
| BRAF | GO:0048009 | insulin-like growth factor receptor signaling pathway | 4.60e-03 |
| BRAF | GO:0051962 | positive regulation of nervous system development | 4.69e-03 |
| BRAF | GO:0060425 | lung morphogenesis | 4.69e-03 |
| BRAF | GO:0018105 | peptidyl-serine phosphorylation | 4.74e-03 |
| BRAF | GO:0001706 | endoderm formation | 5.11e-03 |
| BRAF | GO:0018209 | peptidyl-serine modification | 5.11e-03 |
| BRAF | GO:0046902 | regulation of mitochondrial membrane permeability | 5.41e-03 |
| BRAF | GO:0070371 | ERK1 and ERK2 cascade | 6.22e-03 |
| BRAF | GO:0048645 | animal organ formation | 6.22e-03 |
| BRAF | GO:0035019 | somatic stem cell population maintenance | 6.45e-03 |
| BRAF | GO:0006414 | translational elongation | 6.46e-03 |
| BRAF | GO:0071260 | cellular response to mechanical stimulus | 6.46e-03 |
| BRAF | GO:0010506 | regulation of autophagy | 6.46e-03 |
| BRAF | GO:0031346 | positive regulation of cell projection organization | 6.46e-03 |
| BRAF | GO:0090559 | regulation of membrane permeability | 6.84e-03 |
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Related Drugs to BRAF_ADCK2 |
| 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 BRAF-ADCK2 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 BRAF_ADCK2 |
| 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 |
| Hgene | BRAF | C0025202 | melanoma | 24 | CGI;CTD_human;UNIPROT |
| Hgene | BRAF | C1275081 | Cardio-facio-cutaneous syndrome | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | BRAF | C0009402 | Colorectal Carcinoma | 8 | CTD_human;UNIPROT |
| Hgene | BRAF | C0028326 | Noonan Syndrome | 8 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | BRAF | C0238463 | Papillary thyroid carcinoma | 8 | CTD_human;ORPHANET |
| Hgene | BRAF | C0040136 | Thyroid Neoplasm | 6 | CGI;CTD_human |
| Hgene | BRAF | C0151468 | Thyroid Gland Follicular Adenoma | 6 | CTD_human |
| Hgene | BRAF | C0175704 | LEOPARD Syndrome | 6 | CLINGEN;GENOMICS_ENGLAND |
| Hgene | BRAF | C0549473 | Thyroid carcinoma | 6 | CGI;CTD_human |
| Hgene | BRAF | C3150970 | NOONAN SYNDROME 7 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | BRAF | C0009404 | Colorectal Neoplasms | 4 | CTD_human |
| Hgene | BRAF | C3150971 | LEOPARD SYNDROME 3 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | BRAF | C1519086 | Pilomyxoid astrocytoma | 3 | ORPHANET |
| Hgene | BRAF | C0004565 | Melanoma, B16 | 2 | CTD_human |
| Hgene | BRAF | C0009075 | Melanoma, Cloudman S91 | 2 | CTD_human |
| Hgene | BRAF | C0018598 | Melanoma, Harding-Passey | 2 | CTD_human |
| Hgene | BRAF | C0023443 | Hairy Cell Leukemia | 2 | CGI;ORPHANET |
| Hgene | BRAF | C0025205 | Melanoma, Experimental | 2 | CTD_human |
| Hgene | BRAF | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | BRAF | C0152013 | Adenocarcinoma of lung (disorder) | 2 | CGI;CTD_human |
| Hgene | BRAF | C0376358 | Malignant neoplasm of prostate | 2 | CTD_human |
| Hgene | BRAF | C0587248 | Costello syndrome (disorder) | 2 | CLINGEN;CTD_human |
| Hgene | BRAF | C3501843 | Nonmedullary Thyroid Carcinoma | 2 | CTD_human |
| Hgene | BRAF | C3501844 | Familial Nonmedullary Thyroid Cancer | 2 | CTD_human |
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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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