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Fusion Protein:KMT2E-MAP2K3 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: KMT2E-MAP2K3 | FusionPDB ID: 43287 | FusionGDB2.0 ID: 54222 | Hgene | Tgene | Gene symbol | KMT2E | MAP2K3 | Gene ID | 55904 | 5606 |
| Gene name | lysine methyltransferase 2E (inactive) | mitogen-activated protein kinase kinase 3 | |
| Synonyms | HDCMC04P|MLL5|NKp44L|ODLURO | MAPKK3|MEK3|MKK3|PRKMK3|SAPKK-2|SAPKK2 | |
| Cytomap | 7q22.3 | 17p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | inactive histone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase 2Ehistone-lysine N-methyltransferase MLL5inactive lysine N-methyltransferase 2Elysine (K)-specific methyltransferase 2Emyeloid/lymphoid or mixed-lineage leukemia 5 (trit | dual specificity mitogen-activated protein kinase kinase 3MAP kinase kinase 3MAPK/ERK kinase 3MAPKK 3MEK 3SAPK kinase 2stress-activated protein kinase kinase 2 | |
| Modification date | 20200314 | 20200327 | |
| UniProtAcc | Q8IZD2 | P46734 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000257745, ENST00000311117, ENST00000334877, ENST00000476671, ENST00000334914, ENST00000480368, | ENST00000316920, ENST00000361818, ENST00000534743, ENST00000342679, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 18 X 21 X 9=3402 | 5 X 5 X 3=75 |
| # samples | 28 | 5 | |
| ** MAII score | log2(28/3402*10)=-3.60288440871842 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: KMT2E [Title/Abstract] AND MAP2K3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KMT2E(104715262)-MAP2K3(21215454), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | KMT2E-MAP2K3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2E-MAP2K3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2E-MAP2K3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2E-MAP2K3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. | ||
| * 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 |
| Tgene | MAP2K3 | GO:0045860 | positive regulation of protein kinase activity | 11980910 |
| Tgene | MAP2K3 | GO:0045893 | positive regulation of transcription, DNA-templated | 11980910 |
| Fusion gene breakpoints across KMT2E (5'-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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| Fusion gene breakpoints across MAP2K3 (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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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 |
| ChimerDB4 | SARC | TCGA-DX-A8BM-01A | KMT2E | chr7 | 104715262 | + | MAP2K3 | chr17 | 21215454 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000311117 | KMT2E | chr7 | 104715262 | + | ENST00000342679 | MAP2K3 | chr17 | 21215454 | + | 2554 | 1274 | 545 | 1543 | 332 |
| ENST00000257745 | KMT2E | chr7 | 104715262 | + | ENST00000342679 | MAP2K3 | chr17 | 21215454 | + | 2395 | 1115 | 386 | 1384 | 332 |
| ENST00000334877 | KMT2E | chr7 | 104715262 | + | ENST00000342679 | MAP2K3 | chr17 | 21215454 | + | 2543 | 1263 | 534 | 1532 | 332 |
| ENST00000476671 | KMT2E | chr7 | 104715262 | + | ENST00000342679 | MAP2K3 | chr17 | 21215454 | + | 2515 | 1235 | 506 | 1504 | 332 |
| 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 |
| ENST00000311117 | ENST00000342679 | KMT2E | chr7 | 104715262 | + | MAP2K3 | chr17 | 21215454 | + | 0.003449484 | 0.99655044 |
| ENST00000257745 | ENST00000342679 | KMT2E | chr7 | 104715262 | + | MAP2K3 | chr17 | 21215454 | + | 0.003833365 | 0.99616665 |
| ENST00000334877 | ENST00000342679 | KMT2E | chr7 | 104715262 | + | MAP2K3 | chr17 | 21215454 | + | 0.00364256 | 0.9963574 |
| ENST00000476671 | ENST00000342679 | KMT2E | chr7 | 104715262 | + | MAP2K3 | chr17 | 21215454 | + | 0.003252519 | 0.9967475 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >43287_43287_1_KMT2E-MAP2K3_KMT2E_chr7_104715262_ENST00000257745_MAP2K3_chr17_21215454_ENST00000342679_length(amino acids)=332AA_BP=243 MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVG IFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISKCKKIEMAILRFPYESWGTPFQQLKQVVEEP -------------------------------------------------------------- >43287_43287_2_KMT2E-MAP2K3_KMT2E_chr7_104715262_ENST00000311117_MAP2K3_chr17_21215454_ENST00000342679_length(amino acids)=332AA_BP=243 MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVG IFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISKCKKIEMAILRFPYESWGTPFQQLKQVVEEP -------------------------------------------------------------- >43287_43287_3_KMT2E-MAP2K3_KMT2E_chr7_104715262_ENST00000334877_MAP2K3_chr17_21215454_ENST00000342679_length(amino acids)=332AA_BP=243 MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVG IFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISKCKKIEMAILRFPYESWGTPFQQLKQVVEEP -------------------------------------------------------------- >43287_43287_4_KMT2E-MAP2K3_KMT2E_chr7_104715262_ENST00000476671_MAP2K3_chr17_21215454_ENST00000342679_length(amino acids)=332AA_BP=243 MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVG IFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRK RENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISKCKKIEMAILRFPYESWGTPFQQLKQVVEEP -------------------------------------------------------------- |
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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/chr7:104715262/chr17:21215454) - 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 |
| KMT2E | MAP2K3 |
| FUNCTION: Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity). {ECO:0000250|UniProtKB:Q3UG20, ECO:0000269|PubMed:14718661, ECO:0000269|PubMed:18573682, ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:23798402, ECO:0000269|PubMed:24130829}.; FUNCTION: [Isoform NKp44L]: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity. {ECO:0000269|PubMed:23958951}. | FUNCTION: Dual specificity kinase. Is activated by cytokines and environmental stress in vivo. Catalyzes the concomitant phosphorylation of a threonine and a tyrosine residue in the MAP kinase p38. Part of a signaling cascade that begins with the activation of the adrenergic receptor ADRA1B and leads to the activation of MAPK14. {ECO:0000269|PubMed:21224381, ECO:0000269|PubMed:8622669}. |
| 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 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 |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000257745 | + | 7 | 26 | 118_166 | 243.0 | 1859.0 | Zinc finger | PHD-type |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000311117 | + | 8 | 27 | 118_166 | 243.0 | 1859.0 | Zinc finger | PHD-type |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000334877 | + | 8 | 26 | 118_166 | 243.0 | 1817.0 | Zinc finger | PHD-type |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000476671 | + | 8 | 15 | 118_166 | 243.0 | 610.0 | Zinc finger | PHD-type |
| - 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 |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000257745 | + | 7 | 26 | 559_615 | 243.0 | 1859.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000311117 | + | 8 | 27 | 559_615 | 243.0 | 1859.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000334877 | + | 8 | 26 | 559_615 | 243.0 | 1817.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000476671 | + | 8 | 15 | 559_615 | 243.0 | 610.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000257745 | + | 7 | 26 | 1433_1846 | 243.0 | 1859.0 | Compositional bias | Pro-rich |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000311117 | + | 8 | 27 | 1433_1846 | 243.0 | 1859.0 | Compositional bias | Pro-rich |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000334877 | + | 8 | 26 | 1433_1846 | 243.0 | 1817.0 | Compositional bias | Pro-rich |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000476671 | + | 8 | 15 | 1433_1846 | 243.0 | 610.0 | Compositional bias | Pro-rich |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000257745 | + | 7 | 26 | 330_447 | 243.0 | 1859.0 | Domain | SET |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000311117 | + | 8 | 27 | 330_447 | 243.0 | 1859.0 | Domain | SET |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000334877 | + | 8 | 26 | 330_447 | 243.0 | 1817.0 | Domain | SET |
| Hgene | KMT2E | chr7:104715262 | chr17:21215454 | ENST00000476671 | + | 8 | 15 | 330_447 | 243.0 | 610.0 | Domain | SET |
| Tgene | MAP2K3 | chr7:104715262 | chr17:21215454 | ENST00000316920 | 9 | 13 | 64_325 | 229.0 | 319.0 | Domain | Protein kinase | |
| Tgene | MAP2K3 | chr7:104715262 | chr17:21215454 | ENST00000342679 | 8 | 12 | 64_325 | 258.0 | 348.0 | Domain | Protein kinase | |
| Tgene | MAP2K3 | chr7:104715262 | chr17:21215454 | ENST00000361818 | 8 | 12 | 64_325 | 229.0 | 319.0 | Domain | Protein kinase | |
| Tgene | MAP2K3 | chr7:104715262 | chr17:21215454 | ENST00000316920 | 9 | 13 | 70_78 | 229.0 | 319.0 | Nucleotide binding | ATP | |
| Tgene | MAP2K3 | chr7:104715262 | chr17:21215454 | ENST00000342679 | 8 | 12 | 70_78 | 258.0 | 348.0 | Nucleotide binding | ATP | |
| Tgene | MAP2K3 | chr7:104715262 | chr17:21215454 | ENST00000361818 | 8 | 12 | 70_78 | 229.0 | 319.0 | Nucleotide binding | ATP |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| KMT2E | |
| MAP2K3 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to KMT2E-MAP2K3 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to KMT2E-MAP2K3 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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