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Fusion gene ID: 19115 |
FusionGeneSummary for KMT2B_ZBTB32 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KMT2B_ZBTB32 | Fusion gene ID: 19115 | Hgene | Tgene | Gene symbol | KMT2B | ZBTB32 | Gene ID | 9757 | 27033 |
| Gene name | lysine methyltransferase 2B | zinc finger and BTB domain containing 32 | |
| Synonyms | CXXC10|DYT28|HRX2|MLL1B|MLL2|MLL4|TRX2|WBP-7|WBP7 | FAXF|FAZF|Rog|TZFP|ZNF538 | |
| Cytomap | 19q13.12 | 19q13.12 | |
| 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 | zinc finger and BTB domain-containing protein 32FANCC-interacting proteinfanconi anemia zinc finger proteinrepressor of GATAtestis zinc finger proteinzinc finger protein 538 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9UMN6 | Q9Y2Y4 | |
| Ensembl transtripts involved in fusion gene | ENST00000341701, ENST00000607650, ENST00000222270, ENST00000420124, | ENST00000392197, ENST00000442282, ENST00000262630, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: KMT2B [Title/Abstract] AND ZBTB32 [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 |
| 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 |
| TCGA | LD | BRCA | TCGA-D8-A27H-01A | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| * 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-5UTR | ENST00000341701 | ENST00000392197 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-3UTR | ENST00000341701 | ENST00000442282 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-intron | ENST00000341701 | ENST00000262630 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 3UTR-5UTR | ENST00000607650 | ENST00000392197 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 3UTR-3UTR | ENST00000607650 | ENST00000442282 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 3UTR-intron | ENST00000607650 | ENST00000262630 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-5UTR | ENST00000222270 | ENST00000392197 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-3UTR | ENST00000222270 | ENST00000442282 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-intron | ENST00000222270 | ENST00000262630 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-5UTR | ENST00000420124 | ENST00000392197 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-3UTR | ENST00000420124 | ENST00000442282 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
| 5CDS-intron | ENST00000420124 | ENST00000262630 | KMT2B | chr19 | 36209283 | + | ZBTB32 | chr19 | 36203819 | + |
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FusionProtFeatures for KMT2B_ZBTB32 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KMT2B | ZBTB32 |
| Histone methyltransferase. Methylates 'Lys-4' of histoneH3. H3 'Lys-4' methylation represents a specific tag forepigenetic transcriptional activation. Plays a central role inbeta-globin locus transcription regulation by being recruited byNFE2. Plays an important role in controlling bulk H3K4me duringoocyte growth and preimplantation development. Required during thetranscriptionally active period of oocyte growth for theestablishment and/or maintenance of bulk H3K4 trimethylation(H3K4me3), global transcriptional silencing that preceedsresumption of meiosis, oocyte survival and normal zygotic genomeactivation. {ECO:0000269|PubMed:17707229}. | DNA-binding protein that binds to the to a 5'-TGTACAGTGT-3' core sequence. May function as a transcriptionaltransactivator and transcriptional repressor. Probably exerts itsrepressor effect by preventing GATA3 from binding to DNA. May playa role in regulating the differentiation and activation of helperT-cells (By similarity). {ECO:0000250,ECO:0000269|PubMed:10572087}. |
| 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 KMT2B_ZBTB32 |
| 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 KMT2B_ZBTB32 |
| 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 |
| KMT2B | SMARCB1, NCOA6, PAXIP1, RBBP5, ASH2L, PAGR1, WDR82, BCL6, RAP1B, SEPT8, GRB7, ATP1B1, RPP14, TK1, ANXA1, NREP, CDKN1A, SMN1, RCC1, PIN1, ANXA7, TSC22D1, WDR5, HIST2H3C, ATXN1, SMAD3, ZNF512B, HIST1H3A, PIK3R3, THOC2, ZNF131, HCFC2, P4HA3 | ZBTB32 | TXNIP, RHOXF2, FANCC, GATA2, ZBTB16, ELF2, HOXD4, ZNF490, ATXN1, ERVK-6, AR, MVP, PITX1, PRKAB2, FMOD, DAB1, MLX, RBPMS, PRDM1, C6orf165 |
| - 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 KMT2B_ZBTB32 |
| 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 KMT2B_ZBTB32 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KMT2B | C2239176 | Liver carcinoma | 1 | CTD_human |
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