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Kinase Fusion Gene:MC1R_BRD2 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: MC1R_BRD2 | KinaseFusionDB ID: KFG3726 | FusionGDB2.0 ID: KFG3726 | Hgene | Tgene | Gene symbol | MC1R | BRD2 | Gene ID | 4157 | 6046 | |
Gene name | melanocortin 1 receptor | bromodomain containing 2 | ||||||||||
Synonyms | CMM5|MSH-R|SHEP2 | BRD2-IT1|D6S113E|FSH|FSHRG1|FSRG1|NAT|O27.1.1|RING3|RNF3 | ||||||||||
Cytomap | 16q24.3 | 6p21.32 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | melanocyte-stimulating hormone receptorMC1-Ralpha melanocyte stimulating hormone receptormelanotropin receptor | bromodomain-containing protein 2BRD2 intronic transcript 1female sterile homeotic-related gene 1really interesting new gene 3 protein | ||||||||||
Modification date | 20240403 | 20240403 | ||||||||||
UniProtAcc | Q01726 | P25440 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000555427, ENST00000555147, | ENST00000374825, ENST00000496118, ENST00000580234, ENST00000374831, ENST00000395289, ENST00000443797, ENST00000395287, ENST00000449085, ENST00000438194, ENST00000466744, ENST00000383108, ENST00000547895, ENST00000549843, ENST00000442863, ENST00000552513, ENST00000442219, ENST00000498329, ENST00000488549, ENST00000425201, ENST00000399529, ENST00000399528, ENST00000550142, ENST00000548837, ENST00000399527, ENST00000549236, ENST00000482105, ENST00000414731, ENST00000449118, ENST00000550598, ENST00000479973, ENST00000546777, ENST00000450320, ENST00000547286, ENST00000552587, ENST00000549126, ENST00000553146, ENST00000448067, ENST00000436979, ENST00000466208, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MC1R [Title/Abstract] AND BRD2 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) |
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 | MC1R | GO:0007189 | adenylate cyclase-activating G protein-coupled receptor signaling pathway | 19329486|19743876 |
Hgene | MC1R | GO:0070914 | UV-damage excision repair | 18292087 |
Tgene | BRD2 | GO:0006357 | regulation of transcription by RNA polymerase II | 18406326|28262505 |
Tgene | BRD2 | GO:0006468 | protein phosphorylation | 8595877 |
Tgene | BRD2 | GO:0071168 | protein localization to chromatin | 28262505 |
Tgene | BRD2 | GO:0140588 | chromatin looping | 35410381 |
Tgene | BRD2 | GO:2000330 | positive regulation of T-helper 17 cell lineage commitment | 28262505 |
Kinase Fusion gene breakpoints across MC1R (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 BRD2 (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 |
CCLE | SNU-81 | MC1R | chr16 | 89978751 | BRD2 | chr6 | 32942350 |
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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/:/:) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MC1R | BRD2 |
FUNCTION: Receptor for MSH (alpha, beta and gamma) and ACTH (PubMed:1325670, PubMed:8463333, PubMed:1516719, PubMed:11442765, PubMed:11707265). The activity of this receptor is mediated by G proteins which activate adenylate cyclase (PubMed:1325670, PubMed:11707265, PubMed:16463023, PubMed:19737927). Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes (PubMed:31097585). {ECO:0000269|PubMed:11442765, ECO:0000269|PubMed:11707265, ECO:0000269|PubMed:1325670, ECO:0000269|PubMed:1516719, ECO:0000269|PubMed:16463023, ECO:0000269|PubMed:19737927, ECO:0000269|PubMed:31097585, ECO:0000269|PubMed:8463333}. | FUNCTION: May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of the CCND1 gene. Plays a role in nucleosome assembly. {ECO:0000250, ECO:0000269|PubMed:18406326}. |
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 MC1R_BRD2 |
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 |
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 |
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Related Drugs to MC1R_BRD2 |
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 MC1R-BRD2 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 MC1R_BRD2 |
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 |