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Kinase Fusion Gene:MECP2_PDK3 |
Kinase Fusion Protein Summary |
Kinase Fusion gene summary |
Kinase Fusion partner gene information | Kinase Fusion gene name: MECP2_PDK3 | KinaseFusionDB ID: KFG3746 | FusionGDB2.0 ID: KFG3746 | Hgene | Tgene | Gene symbol | MECP2 | PDK3 | Gene ID | 4204 | 5165 | |
Gene name | methyl-CpG binding protein 2 | pyruvate dehydrogenase kinase 3 | ||||||||||
Synonyms | AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT | CMTX6|GS1-358P8.4 | ||||||||||
Cytomap | Xq28 | Xp22.11 | ||||||||||
Type of gene | protein-coding | protein-coding | ||||||||||
Description | methyl-CpG-binding protein 2meCp-2 protein | pyruvate dehydrogenase kinase, isozyme 3[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrialpyruvate dehydrogenase kinase, isoenzyme 3pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial | ||||||||||
Modification date | 20240416 | 20240305 | ||||||||||
UniProtAcc | P51608 | Q15120 | ||||||||||
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000303391, ENST00000453960, ENST00000407218, ENST00000460227, | ENST00000379162, ENST00000441463, ENST00000493226, | |||||||||
Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: MECP2 [Title/Abstract] AND PDK3 [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 | MECP2 | GO:0010629 | negative regulation of gene expression | 23960241 |
Hgene | MECP2 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 23960241 |
Hgene | MECP2 | GO:0044027 | negative regulation of gene expression via chromosomal CpG island methylation | 23960241 |
Hgene | MECP2 | GO:0045892 | negative regulation of DNA-templated transcription | 11441023 |
Tgene | PDK3 | GO:0018105 | peptidyl-serine phosphorylation | 11486000 |
Kinase Fusion gene breakpoints across MECP2 (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 PDK3 (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 | FaDu | MECP2 | chrX | 153357642 | PDK3 | chrX | 24512859 |
CCLE | FaDu | MECP2 | chrX | 153363061 | PDK3 | chrX | 24512859 |
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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 |
MECP2 | PDK3 |
FUNCTION: Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC). {ECO:0000250|UniProtKB:Q9Z2D6}. | FUNCTION: Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species. {ECO:0000269|PubMed:10748134, ECO:0000269|PubMed:11486000, ECO:0000269|PubMed:15861126, ECO:0000269|PubMed:16436377, ECO:0000269|PubMed:17683942, ECO:0000269|PubMed:18718909, ECO:0000269|PubMed:22865452}. |
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 MECP2_PDK3 |
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 |
PDK3 | Q15120 | human | PDHA1 | P08559 | S300 | sMsDPGVsyRtREEI | E1_dh |
PDK3 | Q15120 | human | PDHA1 | P08559 | S293 | TYRyHGHsMsDPGVs | E1_dh |
PDK3 | Q15120 | human | PDHA2 | P29803 | S298 | sMsDPGVsyRtREEI | E1_dh |
PDK3 | Q15120 | human | PDHA2 | P29803 | S291 | TYRyHGHsMsDPGVs | E1_dh |
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 |
PDK3 | ID | Description | 0.00e+00 |
PDK3 | GO:0006086 | acetyl-CoA biosynthetic process from pyruvate | 1.08e-05 |
PDK3 | GO:0006085 | acetyl-CoA biosynthetic process | 1.50e-05 |
PDK3 | GO:0006084 | acetyl-CoA metabolic process | 2.60e-05 |
PDK3 | GO:0006099 | tricarboxylic acid cycle | 2.60e-05 |
PDK3 | GO:0035384 | thioester biosynthetic process | 3.54e-05 |
PDK3 | GO:0071616 | acyl-CoA biosynthetic process | 3.54e-05 |
PDK3 | GO:0033866 | nucleoside bisphosphate biosynthetic process | 3.61e-05 |
PDK3 | GO:0034030 | ribonucleoside bisphosphate biosynthetic process | 3.61e-05 |
PDK3 | GO:0034033 | purine nucleoside bisphosphate biosynthetic process | 3.61e-05 |
PDK3 | GO:0006637 | acyl-CoA metabolic process | 8.15e-05 |
PDK3 | GO:0035383 | thioester metabolic process | 8.15e-05 |
PDK3 | GO:0006090 | pyruvate metabolic process | 1.02e-04 |
PDK3 | GO:0033865 | nucleoside bisphosphate metabolic process | 1.02e-04 |
PDK3 | GO:0033875 | ribonucleoside bisphosphate metabolic process | 1.02e-04 |
PDK3 | GO:0034032 | purine nucleoside bisphosphate metabolic process | 1.02e-04 |
PDK3 | GO:0044272 | sulfur compound biosynthetic process | 1.58e-04 |
PDK3 | GO:0006006 | glucose metabolic process | 2.11e-04 |
PDK3 | GO:0009060 | aerobic respiration | 2.11e-04 |
PDK3 | GO:0009152 | purine ribonucleotide biosynthetic process | 2.34e-04 |
PDK3 | GO:0009260 | ribonucleotide biosynthetic process | 2.46e-04 |
PDK3 | GO:0019318 | hexose metabolic process | 2.46e-04 |
PDK3 | GO:0046390 | ribose phosphate biosynthetic process | 2.46e-04 |
PDK3 | GO:0045333 | cellular respiration | 2.51e-04 |
PDK3 | GO:0006164 | purine nucleotide biosynthetic process | 2.67e-04 |
PDK3 | GO:0005996 | monosaccharide metabolic process | 2.67e-04 |
PDK3 | GO:0072522 | purine-containing compound biosynthetic process | 2.69e-04 |
PDK3 | GO:0009165 | nucleotide biosynthetic process | 3.09e-04 |
PDK3 | GO:1901293 | nucleoside phosphate biosynthetic process | 3.09e-04 |
PDK3 | GO:0006790 | sulfur compound metabolic process | 3.40e-04 |
PDK3 | GO:0015980 | energy derivation by oxidation of organic compounds | 3.71e-04 |
PDK3 | GO:0009150 | purine ribonucleotide metabolic process | 4.21e-04 |
PDK3 | GO:0009259 | ribonucleotide metabolic process | 4.54e-04 |
PDK3 | GO:0019693 | ribose phosphate metabolic process | 4.59e-04 |
PDK3 | GO:0006163 | purine nucleotide metabolic process | 6.18e-04 |
PDK3 | GO:0072521 | purine-containing compound metabolic process | 6.81e-04 |
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Related Drugs to MECP2_PDK3 |
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 MECP2-PDK3 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 MECP2_PDK3 |
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 |