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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:KMT2A-MLLT11 (FusionGDB2 ID:HG4297TG10962) |
Fusion Gene Summary for KMT2A-MLLT11 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KMT2A-MLLT11 | Fusion gene ID: hg4297tg10962 | Hgene | Tgene | Gene symbol | KMT2A | MLLT11 | Gene ID | 4297 | 10962 |
| Gene name | lysine methyltransferase 2A | MLLT11 transcription factor 7 cofactor | |
| Synonyms | ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS | AF1Q | |
| Cytomap | ('KMT2A')('MLLT11') 11q23.3 | 1q21.3 | |
| 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 AF1qALL1 fused gene from chromosome 1qmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11 | |
| Modification date | 20200319 | 20200313 | |
| UniProtAcc | Q03164 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000420751, ENST00000354520, ENST00000389506, ENST00000534358, | ||
| Fusion gene scores | * DoF score | 79 X 196 X 13=201292 | 5 X 4 X 4=80 |
| # samples | 241 | 6 | |
| ** MAII score | log2(241/201292*10)=-6.38411287931608 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KMT2A [Title/Abstract] AND MLLT11 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | |||
| 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 | KMT2A | GO:0044648 | histone H3-K4 dimethylation | 25561738 |
| 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 |
| Hgene | KMT2A | GO:0097692 | histone H3-K4 monomethylation | 25561738|26324722 |
| Tgene | MLLT11 | GO:0045893 | positive regulation of transcription, DNA-templated | 18852119 |
| Tgene | MLLT11 | GO:0051901 | positive regulation of mitochondrial depolarization | 18852119 |
| Tgene | MLLT11 | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 18852119 |
| Tgene | MLLT11 | GO:0097191 | extrinsic apoptotic signaling pathway | 18852119 |
| Tgene | MLLT11 | GO:0097193 | intrinsic apoptotic signaling pathway | 18852119 |
| Fusion gene information * 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 |
| ChimerKB3 | . | . | KMT2A | chr11 | 118353210 | MLLT11 | chr1 | 151039694 | + | |
| ChimerKB3 | . | . | KMT2A | chr11 | 118355029 | + | MLLT11 | chr1 | 151039694 | + |
| ChimerKB3 | . | . | KMT2A | chr11 | 118355029 | MLLT11 | chr1 | 151039694 | + | |
| ChimerKB3 | . | . | KMT2A | chr11 | 118355690 | MLLT11 | chr1 | 151039694 | + | |
| ChimerKB4 | . | . | KMT2A | chr11 | 118355690 | MLLT11 | chr1 | 151039694 | + |
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Fusion Gene ORF analysis for KMT2A-MLLT11 |
| 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 |
| 3UTR-5UTR | ENST00000420751 | ENST00000368921 | KMT2A | chr11 | 118355029 | + | MLLT11 | chr1 | 151039694 | + |
| 5CDS-5UTR | ENST00000354520 | ENST00000368921 | KMT2A | chr11 | 118353210 | MLLT11 | chr1 | 151039694 | + | |
| 5CDS-5UTR | ENST00000354520 | ENST00000368921 | KMT2A | chr11 | 118355029 | + | MLLT11 | chr1 | 151039694 | + |
| 5CDS-5UTR | ENST00000389506 | ENST00000368921 | KMT2A | chr11 | 118353210 | MLLT11 | chr1 | 151039694 | + | |
| 5CDS-5UTR | ENST00000389506 | ENST00000368921 | KMT2A | chr11 | 118355029 | + | MLLT11 | chr1 | 151039694 | + |
| 5CDS-5UTR | ENST00000389506 | ENST00000368921 | KMT2A | chr11 | 118355690 | MLLT11 | chr1 | 151039694 | + | |
| 5CDS-5UTR | ENST00000534358 | ENST00000368921 | KMT2A | chr11 | 118353210 | MLLT11 | chr1 | 151039694 | + | |
| 5CDS-5UTR | ENST00000534358 | ENST00000368921 | KMT2A | chr11 | 118355029 | + | MLLT11 | chr1 | 151039694 | + |
| 5CDS-5UTR | ENST00000534358 | ENST00000368921 | KMT2A | chr11 | 118355690 | MLLT11 | chr1 | 151039694 | + | |
| intron-5UTR | ENST00000354520 | ENST00000368921 | KMT2A | chr11 | 118355690 | MLLT11 | chr1 | 151039694 | + | |
| intron-5UTR | ENST00000420751 | ENST00000368921 | KMT2A | chr11 | 118353210 | MLLT11 | chr1 | 151039694 | + | |
| intron-5UTR | ENST00000420751 | ENST00000368921 | KMT2A | chr11 | 118355690 | MLLT11 | chr1 | 151039694 | + |
| 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 KMT2A-MLLT11 |
| 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) |
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Fusion Protein Features for KMT2A-MLLT11 |
| 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KMT2A | . |
| FUNCTION: Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:24235145, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (PubMed:19187761). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis (PubMed:10490642). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate (PubMed:24235145). {ECO:0000250|UniProtKB:P55200, ECO:0000269|PubMed:10490642, ECO:0000269|PubMed:12453419, ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:19187761, ECO:0000269|PubMed:19556245, ECO:0000269|PubMed:20010842, ECO:0000269|PubMed:21220120, ECO:0000269|PubMed:24235145, ECO:0000269|PubMed:26886794, ECO:0000305|PubMed:20677832}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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 KMT2A-MLLT11 |
| 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 KMT2A-MLLT11 |
| 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 KMT2A-MLLT11 |
| 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 KMT2A-MLLT11 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KMT2A | C2826025 | Mixed phenotype acute leukemia | 3 | ORPHANET |
| Hgene | KMT2A | C0023418 | leukemia | 2 | CTD_human |
| Hgene | KMT2A | C0023452 | Childhood Acute Lymphoblastic Leukemia | 2 | CTD_human |
| Hgene | KMT2A | C0023453 | L2 Acute Lymphoblastic Leukemia | 2 | CTD_human |
| Hgene | KMT2A | C0023466 | Leukemia, Monocytic, Chronic | 2 | CTD_human |
| Hgene | KMT2A | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Hgene | KMT2A | C0023470 | Myeloid Leukemia | 2 | CTD_human |
| Hgene | KMT2A | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human |
| Hgene | KMT2A | C1854630 | Growth Deficiency and Mental Retardation with Facial Dysmorphism | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | KMT2A | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human |
| Hgene | KMT2A | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human |
| Hgene | KMT2A | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | KMT2A | C0004403 | Autosome Abnormalities | 1 | CTD_human |
| Hgene | KMT2A | C0005684 | Malignant neoplasm of urinary bladder | 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 | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Hgene | KMT2A | C0033578 | Prostatic Neoplasms | 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 | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
| Hgene | KMT2A | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
| Hgene | KMT2A | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
| Hgene | KMT2A | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
| Hgene | KMT2A | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
| Hgene | KMT2A | C0270972 | Cornelia De Lange Syndrome | 1 | ORPHANET |
| Hgene | KMT2A | C0280141 | Acute Undifferentiated Leukemia | 1 | ORPHANET |
| Hgene | KMT2A | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
| Hgene | KMT2A | C0856823 | Undifferentiated type acute leukemia | 1 | ORPHANET |
| Hgene | KMT2A | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
| Hgene | KMT2A | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
| Hgene | KMT2A | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | KMT2A | C2930974 | Acute erythroleukemia | 1 | CTD_human |
| Hgene | KMT2A | C2930975 | Acute erythroleukemia - M6a subtype | 1 | CTD_human |
| Hgene | KMT2A | C2930976 | Acute myeloid leukemia FAB-M6 | 1 | CTD_human |
| Hgene | KMT2A | C2930977 | Acute erythroleukemia - M6b subtype | 1 | CTD_human |
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