|
||||||
|
 | 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:KMT2B-GPS2 (FusionGDB2 ID:43228) |
Fusion Gene Summary for KMT2B-GPS2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KMT2B-GPS2 | Fusion gene ID: 43228 | Hgene | Tgene | Gene symbol | KMT2B | GPS2 | Gene ID | 9757 | 2874 |
| Gene name | lysine methyltransferase 2B | G protein pathway suppressor 2 | |
| Synonyms | CXXC10|DYT28|HRX2|MLL1B|MLL2|MLL4|TRX2|WBP-7|WBP7 | AMF-1 | |
| Cytomap | 19q13.12 | 17p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase 2BWW domain binding protein 7histone-lysine N-methyltransferase MLL4lysine (K)-specific methyltransferase 2Bmixed lineage leukemia gene homolog 2myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosoph | G protein pathway suppressor 2GPS-2 | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q9UMN6 | Q13227 | |
| Ensembl transtripts involved in fusion gene | ENST00000607650, ENST00000222270, ENST00000341701, ENST00000420124, | ENST00000380728, ENST00000389167, ENST00000391950, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 3 X 3 X 2=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/144*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KMT2B [Title/Abstract] AND GPS2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KMT2B(36210791)-GPS2(7218435), # 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 | KMT2B | GO:0044648 | histone H3-K4 dimethylation | 25561738 |
| Hgene | KMT2B | GO:0097692 | histone H3-K4 monomethylation | 25561738 |
| Tgene | GPS2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11931768|19858209 |
| Tgene | GPS2 | GO:0010875 | positive regulation of cholesterol efflux | 19481530 |
| Tgene | GPS2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19481530 |
| Tgene | GPS2 | GO:0046329 | negative regulation of JNK cascade | 11931768 |
| Fusion gene breakpoints across KMT2B (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 GPS2 (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 | KJ938048 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
Top |
Fusion Gene ORF analysis for KMT2B-GPS2 |
| 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 | ENST00000607650 | ENST00000380728 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 3UTR-5UTR | ENST00000607650 | ENST00000389167 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 3UTR-5UTR | ENST00000607650 | ENST00000391950 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000222270 | ENST00000380728 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000222270 | ENST00000389167 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000222270 | ENST00000391950 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000341701 | ENST00000380728 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000341701 | ENST00000389167 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000341701 | ENST00000391950 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000420124 | ENST00000380728 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000420124 | ENST00000389167 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 5CDS-5UTR | ENST00000420124 | ENST00000391950 | KMT2B | chr19 | 36210791 | + | GPS2 | chr17 | 7218435 | - |
| 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 |
Top |
Fusion Genomic Features for KMT2B-GPS2 |
| 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. |
Top |
Fusion Protein Features for KMT2B-GPS2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:36210791/:7218435) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KMT2B | GPS2 |
| FUNCTION: Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:17707229). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:17707229). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity). {ECO:0000250|UniProtKB:O08550, ECO:0000269|PubMed:17707229}. | FUNCTION: Key regulator of inflammation, lipid metabolism and mitochondrion homeostasis that acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, thereby inhibiting 'Lys-63'-linked ubiquitination (By similarity). In the nucleus, can both acts as a corepressor and coactivator of transcription, depending on the context (PubMed:24943844). Acts as a transcription coactivator in adipocytes by promoting the recruitment of PPARG to promoters: acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, leading to stabilization of KDM4A and subsequent histone H3 'Lys-9' (H3K9) demethylation (By similarity). Promotes cholesterol efflux by acting as a transcription coactivator (PubMed:19481530). Acts as a regulator of B-cell development by inhibiting UBE2N/Ubc13, thereby restricting the activation of Toll-like receptors (TLRs) and B-cell antigen receptors (BCRs) signaling pathways (By similarity). Acts as a key mediator of mitochondrial stress response: in response to mitochondrial depolarization, relocates from the mitochondria to the nucleus following desumoylation and specifically promotes expression of nuclear-encoded mitochondrial genes (PubMed:29499132). Promotes transcription of nuclear-encoded mitochondrial genes by inhibiting UBE2N/Ubc13 (PubMed:29499132). Can also act as a corepressor as part of the N-Cor repressor complex by repressing active PPARG (PubMed:19858209, PubMed:24943844). Plays an anti-inflammatory role in macrophages and is required for insulin sensitivity by acting as a corepressor (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by interacting with sumoylated NR1H2 and NR5A2 proteins, thereby preventing N-Cor corepressor complex dissociation (PubMed:20159957). In the cytosol, also plays a non-transcriptional role by regulating insulin signaling and pro-inflammatory pathways (By similarity). In the cytoplasm, acts as a negative regulator of inflammation by inhibiting the proinflammatory TNF-alpha pathway; acts by repressing UBE2N/Ubc13 activity (By similarity). In the cytoplasm of adipocytes, restricts the activation of insulin signaling via inhibition of UBE2N/Ubc13-mediated ubiquitination of AKT (By similarity). Able to suppress G-protein- and mitogen-activated protein kinase-mediated signal transduction (PubMed:8943324). Acts as a tumor-suppressor in liposarcoma (PubMed:27460081). {ECO:0000250|UniProtKB:Q921N8, ECO:0000269|PubMed:19481530, ECO:0000269|PubMed:19858209, ECO:0000269|PubMed:20159957, ECO:0000269|PubMed:24943844, ECO:0000269|PubMed:27460081, ECO:0000269|PubMed:29499132, ECO:0000269|PubMed:8943324}.; FUNCTION: (Microbial infection) Required for efficient replication of hepatitis C virus (HCV) by promoting the interaction between VAPA and HCV virus protein NS5A. {ECO:0000269|PubMed:24223774}. |
| 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 |
Top |
Fusion Gene Sequence for KMT2B-GPS2 |
| 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. |
Top |
Fusion Gene PPI Analysis for KMT2B-GPS2 |
| 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 |
Top |
Related Drugs for KMT2B-GPS2 |
| 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 |
Top |
Related Diseases for KMT2B-GPS2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies