| Kinase Fusion partner gene information | Kinase Fusion gene name: ACVR1C_MESDC2 |
KinaseFusionDB ID: KFG145 | FusionGDB2.0 ID: KFG145 | | Hgene | Tgene | Gene symbol | ACVR1C | MESDC2 | Gene ID | 130399 | 23184 | | Gene name | activin A receptor type 1C | mesoderm development LRP chaperone |
| Synonyms | ACVRLK7|ALK7 | BOCA|MESDC2|OI20 |
| Cytomap | 2q24.1 | 15q25.1 |
| Type of gene | protein-coding | protein-coding |
| Description | activin receptor type-1CACTR-ICALK-7activin A receptor, type ICactivin receptor type ICactivin receptor-like kinase 7 | LRP chaperone MESDLDLR chaperone MESDmesoderm development LRP chaperone MESDmesoderm development candidate 2mesoderm development proteinrenal carcinoma antigen NY-REN-61 |
| Modification date | 20240317 | 20240407 |
| UniProtAcc | Q8NER5 | Q14696 |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000243349, ENST00000335450,
ENST00000348328, ENST00000409680,
| ENST00000261758, ENST00000560244,
|
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: ACVR1C [Title/Abstract] AND MESDC2 [Title/Abstract] AND fusion [Title/Abstract] |
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ACVR1C(158383504)-MESDC2(81270833), # samples:1
|
 Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Kinase Fusion gene breakpoints across ACVR1C (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 MESDC2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | AV731627 | ACVR1C | chr2 | 158383504 | MESDC2 | chr15 | 81270833 |
| 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) |
| 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
|
Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:158383504/:81270833)
- 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 |
ACVR1C
Q8NER5 | MESDC2
Q14696 |
| FUNCTION: Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. {ECO:0000269|PubMed:12063393, ECO:0000269|PubMed:15531507}. | FUNCTION: Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) (PubMed:15014448). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane (PubMed:17488095). Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity). {ECO:0000250|UniProtKB:Q9ERE7, ECO:0000269|PubMed:15014448, ECO:0000269|PubMed:17488095}. |
| 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 download page * 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 |
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 |
Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Distribution of the number of studies mentioning ACVR1C-MESDC2 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 |
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) |
Diseases associated with fusion partners.
(DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| 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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