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Fusion gene ID: 19104 |
FusionGeneSummary for KMT2A_MLLT6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KMT2A_MLLT6 | Fusion gene ID: 19104 | Hgene | Tgene | Gene symbol | KMT2A | MLLT6 | Gene ID | 4297 | 4302 |
| Gene name | lysine methyltransferase 2A | MLLT6, PHD finger containing | |
| Synonyms | ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS | AF17 | |
| Cytomap | 11q23.3 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | protein AF-17ALL1-fused gene from chromosome 17 proteinMLLT6, PHD finger domain containingMyeloid/lymphoid or mixed-lineage leukemia, translocated to, 6myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 6myeloid/lymphoid | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q03164 | P55198 | |
| Ensembl transtripts involved in fusion gene | ENST00000534358, ENST00000389506, ENST00000354520, ENST00000420751, | ENST00000378137, ENST00000325718, ENST00000579179, | |
| Fusion gene scores | * DoF score | 31 X 72 X 6=13392 | 6 X 6 X 3=108 |
| # samples | 129 | 6 | |
| ** MAII score | log2(129/13392*10)=-3.37592846223973 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KMT2A [Title/Abstract] AND MLLT6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | KMT2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20861184 |
| Hgene | KMT2A | GO:0051568 | histone H3-K4 methylation | 19556245 |
| Hgene | KMT2A | GO:0065003 | protein-containing complex assembly | 15199122 |
| Hgene | 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 | S72604 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| * 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 |
| 5CDS-intron | ENST00000534358 | ENST00000378137 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000534358 | ENST00000325718 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000534358 | ENST00000579179 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000389506 | ENST00000378137 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000389506 | ENST00000325718 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000389506 | ENST00000579179 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000354520 | ENST00000378137 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000354520 | ENST00000325718 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 5CDS-intron | ENST00000354520 | ENST00000579179 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 3UTR-intron | ENST00000420751 | ENST00000378137 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 3UTR-intron | ENST00000420751 | ENST00000325718 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
| 3UTR-intron | ENST00000420751 | ENST00000579179 | KMT2A | chr11 | 118352808 | + | MLLT6 | chr17 | 36873682 | + |
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FusionProtFeatures for KMT2A_MLLT6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KMT2A | MLLT6 |
| 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 KMT2A_MLLT6 |
| 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 KMT2A_MLLT6 |
| 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 |
| KMT2A | PPIE, PPP1R15A, KMT2A, ASH2L, HCFC1, HCFC2, MEN1, RBBP5, WDR5, AVP, INS, OXT, MAP3K5, HDAC1, CTBP1, CBX4, BMI1, CREBBP, SMARCB1, CXXC1, MYB, CTNNB1, SNW1, E2F2, E2F4, E2F6, PSIP1, MLLT4, POLR2A, KAT8, RNF2, TP53, SBF1, MTM1, SET, HIST1H3A, HIST1H4A, KAT6A, ELL, AFF1, AFF4, CDK9, CCNT1, CTR9, LEO1, PAF1, CDC73, WDR61, MLLT3, DOT1L, SKP2, HIST3H3, SVIL, HIST2H3C, SIN3A, MLLT1, RUNX1, CBFB, H3F3A, SIRT7, ASB2, TCEB1, TCEB2, CBX8, TOP1, TAF6, NCL, HECW2, LGR4, CSNK2A2, SENP3, SYMPK, PKN1, PIH1D1, KRAS, TAF1, CHD3, SMARCA2, SMARCC2, SMARCC1, HDAC2, RBBP4, RBBP7, TBP, MBD3, SAP30, RAN, TAF9, TASP1, HIST1H2BG, EWSR1, DYNLT1, KIF11, ING4, ZNF131, ASB7 | MLLT6 | CEBPG, MED15, IKBKG, DOT1L, MLLT1, ELAVL1, CUL3, CEBPE, UBQLN4, APP, CASK, UBE2G2, CRX, MEOX2, TCF4, TCF12, ZBTB22, SPRY2, ENOX2, UBQLN1, WHSC1L1, CEP44, KRTAP10-8, UNK, RPL10, YEATS4, NOP56, MLLT10, GULP1, ZC3H10, CREB5, MID1, EEA1, MLLT3, ATF7, JUN, VARS, NEFM, JUND, CARS, EEF1B2, ATF2, IQSEC1, RGPD8, EEF1D, EEF1A2, SGOL1, GCC2 |
| - 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 KMT2A_MLLT6 |
| 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 KMT2A_MLLT6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KMT2A | C0023418 | leukemia | 2 | CTD_human |
| Hgene | KMT2A | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Hgene | KMT2A | C0023470 | Myeloid Leukemia | 2 | CTD_human |
| Hgene | KMT2A | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human |
| Hgene | KMT2A | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | KMT2A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | KMT2A | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Hgene | KMT2A | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Hgene | KMT2A | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| Hgene | KMT2A | C0023465 | Acute monocytic leukemia | 1 | CTD_human |
| Hgene | KMT2A | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human |
| Hgene | KMT2A | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | KMT2A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | KMT2A | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Hgene | KMT2A | C2239176 | Liver carcinoma | 1 | CTD_human |
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