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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:MAPK3-PMPCA (FusionGDB2 ID:51553) |
Fusion Gene Summary for MAPK3-PMPCA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAPK3-PMPCA | Fusion gene ID: 51553 | Hgene | Tgene | Gene symbol | MAPK3 | PMPCA | Gene ID | 5595 | 23203 |
| Gene name | mitogen-activated protein kinase 3 | peptidase, mitochondrial processing subunit alpha | |
| Synonyms | ERK-1|ERK1|ERT2|HS44KDAP|HUMKER1A|P44ERK1|P44MAPK|PRKM3|p44-ERK1|p44-MAPK | Alpha-MPP|CLA1|CPD3|INPP5E|P-55|SCAR2 | |
| Cytomap | 16p11.2 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitogen-activated protein kinase 3MAP kinase isoform p44MAPK 1extracellular signal-regulated kinase 1extracellular signal-related kinase 1insulin-stimulated MAP2 kinasemicrotubule-associated protein 2 kinase | mitochondrial-processing peptidase subunit alphaCerebellar ataxia-1cerebellar ataxia 1 (autosomal recessive)inositol polyphosphate-5-phosphatase, 72 kDmitochondrial matrix processing protease, alpha subunitpeptidase, mitochondrial processing alpha su | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | P27361 | Q10713 | |
| Ensembl transtripts involved in fusion gene | ENST00000263025, ENST00000322266, ENST00000395199, ENST00000395200, ENST00000395202, ENST00000403394, ENST00000484663, ENST00000494643, | ENST00000371717, ENST00000371720, ENST00000399219, ENST00000462616, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 6 X 4=168 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/168*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAPK3 [Title/Abstract] AND PMPCA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MAPK3(30129814)-PMPCA(139316289), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 | MAPK3 | GO:0006468 | protein phosphorylation | 7687743 |
| Hgene | MAPK3 | GO:0006975 | DNA damage induced protein phosphorylation | 17560175 |
| Hgene | MAPK3 | GO:0016310 | phosphorylation | 15950189 |
| Hgene | MAPK3 | GO:0034198 | cellular response to amino acid starvation | 11096076 |
| Hgene | MAPK3 | GO:0038083 | peptidyl-tyrosine autophosphorylation | 8388392 |
| Hgene | MAPK3 | GO:0051403 | stress-activated MAPK cascade | 11096076 |
| Hgene | MAPK3 | GO:0070849 | response to epidermal growth factor | 18794356|21968647 |
| Tgene | PMPCA | GO:0006627 | protein processing involved in protein targeting to mitochondrion | 22354088 |
| Fusion gene breakpoints across MAPK3 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across PMPCA (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | BE937971 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
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Fusion Gene ORF analysis for MAPK3-PMPCA |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000263025 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000263025 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000263025 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000263025 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000322266 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000322266 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000322266 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000322266 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395199 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395199 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395199 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395199 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395200 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395200 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395200 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395200 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395202 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395202 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395202 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000395202 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000403394 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000403394 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000403394 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000403394 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000484663 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000484663 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000484663 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000484663 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000494643 | ENST00000371717 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000494643 | ENST00000371720 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000494643 | ENST00000399219 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| intron-intron | ENST00000494643 | ENST00000462616 | MAPK3 | chr16 | 30129814 | - | PMPCA | chr9 | 139316289 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MAPK3-PMPCA |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MAPK3-PMPCA |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:30129814/:139316289) - 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 |
| MAPK3 | PMPCA |
| FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. {ECO:0000269|PubMed:10393181, ECO:0000269|PubMed:10617468, ECO:0000269|PubMed:12110590, ECO:0000269|PubMed:12356731, ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:15788397, ECO:0000269|PubMed:15952796, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:8325880, ECO:0000269|PubMed:9155018, ECO:0000269|PubMed:9480836}. | FUNCTION: Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins. {ECO:0000269|PubMed:25808372}. |
| 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for MAPK3-PMPCA |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for MAPK3-PMPCA |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for MAPK3-PMPCA |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MAPK3-PMPCA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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