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Fusion gene ID: 20704 |
FusionGeneSummary for MAML2_KMT2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAML2_KMT2A | Fusion gene ID: 20704 | Hgene | Tgene | Gene symbol | MAML2 | KMT2A | Gene ID | 84441 | 4297 |
| Gene name | mastermind like transcriptional coactivator 2 | lysine methyltransferase 2A | |
| Synonyms | MAM-3|MAM2|MAM3|MLL-MAML2 | ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS | |
| Cytomap | 11q21 | 11q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mastermind-like protein 2mam-2mastermind-like 2 | histone-lysine N-methyltransferase 2ACXXC-type zinc finger protein 7lysine (K)-specific methyltransferase 2Alysine N-methyltransferase 2Amixed lineage leukemia 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)trithorax-like | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IZL2 | Q03164 | |
| Ensembl transtripts involved in fusion gene | ENST00000524717, | ENST00000534358, ENST00000389506, ENST00000354520, ENST00000420751, | |
| Fusion gene scores | * DoF score | 11 X 8 X 5=440 | 15 X 40 X 1=600 |
| # samples | 12 | 58 | |
| ** MAII score | log2(12/440*10)=-1.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(58/600*10)=-0.0489096004809464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAML2 [Title/Abstract] AND KMT2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 | MAML2 | GO:0007219 | Notch signaling pathway | 12370315 |
| Hgene | MAML2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
| Tgene | KMT2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20861184 |
| Tgene | KMT2A | GO:0051568 | histone H3-K4 methylation | 19556245 |
| Tgene | KMT2A | GO:0065003 | protein-containing complex assembly | 15199122 |
| Tgene | KMT2A | GO:0080182 | histone H3-K4 trimethylation | 20861184 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | DQ084492 | MAML2 | chr11 | 95819954 | - | KMT2A | chr11 | 118359129 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 | ENST00000524717 | ENST00000534358 | MAML2 | chr11 | 95819954 | - | KMT2A | chr11 | 118359129 | + |
| intron-intron | ENST00000524717 | ENST00000389506 | MAML2 | chr11 | 95819954 | - | KMT2A | chr11 | 118359129 | + |
| intron-intron | ENST00000524717 | ENST00000354520 | MAML2 | chr11 | 95819954 | - | KMT2A | chr11 | 118359129 | + |
| intron-intron | ENST00000524717 | ENST00000420751 | MAML2 | chr11 | 95819954 | - | KMT2A | chr11 | 118359129 | + |
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FusionProtFeatures for MAML2_KMT2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAML2 | KMT2A |
| Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. Potentiates activation by NOTCH3 and NOTCH4 more efficientlythan MAML1 or MAML3. {ECO:0000269|PubMed:12370315,ECO:0000269|PubMed:12386158, ECO:0000269|PubMed:12539049}. |
| 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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FusionGeneSequence for MAML2_KMT2A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MAML2_KMT2A |
| 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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RelatedDrugs for MAML2_KMT2A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAML2_KMT2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAML2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | KMT2A | C0023418 | leukemia | 2 | CTD_human |
| Tgene | KMT2A | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Tgene | KMT2A | C0023470 | Myeloid Leukemia | 2 | CTD_human |
| Tgene | KMT2A | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human |
| Tgene | KMT2A | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | KMT2A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | KMT2A | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Tgene | KMT2A | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Tgene | KMT2A | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| Tgene | KMT2A | C0023465 | Acute monocytic leukemia | 1 | CTD_human |
| Tgene | KMT2A | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human |
| Tgene | KMT2A | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | KMT2A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | KMT2A | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Tgene | KMT2A | C2239176 | Liver carcinoma | 1 | CTD_human |
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