Kinase Fusion partner gene information | Kinase Fusion gene name: MAP3K12_GDF11 |
KinaseFusionDB ID: KFG3352 | FusionGDB2.0 ID: KFG3352 | | Hgene | Tgene | Gene symbol | MAP3K12 | GDF11 | Gene ID | 7786 | 10220 | Gene name | mitogen-activated protein kinase kinase kinase 12 | growth differentiation factor 11 |
Synonyms | DLK|HP09298|MEKK12|MUK|ZPK|ZPKP1 | BMP-11|BMP11|VHO |
Cytomap | 12q13.13 | 12q13.2 |
Type of gene | protein-coding | protein-coding |
Description | mitogen-activated protein kinase kinase kinase 12MAPK-upstream kinasedual leucine zipper bearing kinasedual leucine zipper kinase DLKleucine zipper protein kinasemixed lineage kinaseprotein kinase MUK | growth/differentiation factor 11GDF-11bone morphogenetic protein 11 |
Modification date | 20240403 | 20240408 |
UniProtAcc | Q12852 | O95390 |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000267079, ENST00000547151, ENST00000547488, ENST00000547035,
| ENST00000257868, |
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MAP3K12 [Title/Abstract] AND GDF11 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MAP3K12(53893211)-GDF11(56142370), # samples:1
|
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Kinase Fusion gene breakpoints across MAP3K12 (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 GDF11 (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 |
ChimerDB4 | TCGA-HC-8264-01B | MAP3K12 | chr12 | 53893211 | GDF11 | chr12 | 56142370 |
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/:53893211/:56142370) - 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 |
MAP3K12
Q12852 | GDF11
O95390 |
FUNCTION: Part of a non-canonical MAPK signaling pathway (PubMed:28111074). Activated by APOE, enhances the AP-1-mediated transcription of APP, via a MAP kinase signal transduction pathway composed of MAP2K7 and MAPK1/ERK2 and MAPK3/ERK1 (PubMed:28111074). May be an activator of the JNK/SAPK pathway. {ECO:0000269|PubMed:28111074}. | FUNCTION: Secreted signal that acts globally to regulate anterior/posterior axial patterning during development. May play critical roles in patterning both mesodermal and neural tissues (By similarity). It is required for proper vertebral patterning and orofacial development (PubMed:31215115). Signals through activin receptors type-2, ACVR2A and ACVR2B, and activin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to the phosphorylation of SMAD2 and SMAD3 (PubMed:28257634). {ECO:0000250|UniProtKB:Q9Z1W4, ECO:0000269|PubMed:28257634, ECO:0000269|PubMed:31215115}. |
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 |
MAP3K12 | Q12852 | human | MYL12B | O14950 | S20 | KRPQRAtsNVFAMFD | |
MAP3K12 | Q12852 | human | MYL12B | O14950 | T19 | KKRPQRAtsNVFAMF | |
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 |
MAP3K12 | ID | Description | 0.00e+00 |
MAP3K12 | GO:0008360 | regulation of cell shape | 1.31e-02 |
MAP3K12 | GO:0022604 | regulation of cell morphogenesis | 1.31e-02 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Distribution of the number of studies mentioning MAP3K12-GDF11 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 |