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Fusion gene ID: 35014 |
FusionGeneSummary for SMURF2_KAT8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMURF2_KAT8 | Fusion gene ID: 35014 | Hgene | Tgene | Gene symbol | SMURF2 | KAT8 | Gene ID | 64750 | 84148 |
| Gene name | SMAD specific E3 ubiquitin protein ligase 2 | lysine acetyltransferase 8 | |
| Synonyms | - | MOF|MYST1|ZC2HC8|hMOF | |
| Cytomap | 17q23.3-q24.1 | 16p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase SMURF2E3 ubiquitin ligase SMURF2HECT-type E3 ubiquitin transferase SMURF2SMAD ubiquitination regulatory factor 2hSMURF2 | histone acetyltransferase KAT8K(lysine) acetyltransferase 8MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1MYST histone acetyltransferase 1MYST-1histone acetyltransferase MYST1ortholog of Drosophila males absent on the first (MOF)probable histone acetyltra | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9HAU4 | Q9H7Z6 | |
| Ensembl transtripts involved in fusion gene | ENST00000262435, ENST00000578200, | ENST00000543774, ENST00000448516, ENST00000219797, | |
| Fusion gene scores | * DoF score | 10 X 5 X 9=450 | 3 X 3 X 3=27 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/450*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SMURF2 [Title/Abstract] AND KAT8 [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 | SMURF2 | GO:0006511 | ubiquitin-dependent protein catabolic process | 14755250 |
| Hgene | SMURF2 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 19255252 |
| Hgene | SMURF2 | GO:0030579 | ubiquitin-dependent SMAD protein catabolic process | 19122240 |
| Hgene | SMURF2 | GO:1901165 | positive regulation of trophoblast cell migration | 19255252 |
| Tgene | KAT8 | GO:0010506 | regulation of autophagy | 23863932 |
| Tgene | KAT8 | GO:0016573 | histone acetylation | 11742995 |
| Tgene | KAT8 | GO:0030099 | myeloid cell differentiation | 11742995 |
| Tgene | KAT8 | GO:0043981 | histone H4-K5 acetylation | 20018852 |
| Tgene | KAT8 | GO:0043982 | histone H4-K8 acetylation | 20018852 |
| Tgene | KAT8 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
| Tgene | KAT8 | GO:0045892 | negative regulation of transcription, DNA-templated | 11742995 |
| Tgene | KAT8 | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995|11965546 |
| 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 | SARC | TCGA-DX-A8BQ-01A | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
| * 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 | ENST00000262435 | ENST00000543774 | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
| 5CDS-intron | ENST00000262435 | ENST00000448516 | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
| 5CDS-intron | ENST00000262435 | ENST00000219797 | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
| intron-5UTR | ENST00000578200 | ENST00000543774 | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
| intron-intron | ENST00000578200 | ENST00000448516 | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
| intron-intron | ENST00000578200 | ENST00000219797 | SMURF2 | chr17 | 62589558 | - | KAT8 | chr16 | 31128784 | + |
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FusionProtFeatures for SMURF2_KAT8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMURF2 | KAT8 |
| E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.Interacts with SMAD1 and SMAD7 in order to trigger theirubiquitination and proteasome-dependent degradation. In addition,interaction with SMAD7 activates autocatalytic degradation, whichis prevented by interaction with SCYE1. Forms a stable complexwith the TGF-beta receptor-mediated phosphorylated SMAD2 andSMAD3. In this way, SMAD2 may recruit substrates, such as SNON,for ubiquitin-mediated degradation. Enhances the inhibitoryactivity of SMAD7 and reduces the transcriptional activity ofSMAD2. Coexpression of SMURF2 with SMAD1 results in considerabledecrease in steady-state level of SMAD1 protein and a smallerdecrease of SMAD2 level. {ECO:0000269|PubMed:11389444,ECO:0000269|PubMed:12717440}. |
| 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 SMURF2_KAT8 |
| 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 SMURF2_KAT8 |
| 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 |
| SMURF2 | STAMBP, SMAD7, TGFBR1, TGFBR2, SMAD1, SMAD2, SMAD3, SKIL, SMURF1, TRAF2, TNFRSF1B, AIMP1, UBE2L3, NEDD4, SMAD5, SMAD6, RUNX3, RNF11, GSK3B, RHOA, ID1, ID3, KLF5, EGFR, RNF20, AXIN1, SMURF2, SPG20, DAZAP2, RUNX2, RLIM, USP15, CCM2, UBE2D1, UBE2D3, HSPB1, EFNB1, FBXL15, LAPTM5, ACOX3, FLNB, SNRNP70, CANX, TFPI2, DAB2, DGCR2, ARHGAP5, FAM175B, SF3A2, RNF111, TMEM139, TRAF4, TXNIP, ACBD3, CUEDC1, TNPO3, UBC, SMAD4, MRPS22, ILF2, YBX1, ACTA2, SMARCA2, ENAH, MRPS23, MRPS7, MYLK2, RBM14, KCTD12, MRPS31, SLC25A5, ESF1, DNAJC10, UBA52, SLC25A6, MAVS, BTRC, YY1, PTCH1, LATS1, LDLRAD4, UBE2D2, UBE2I, PIAS3, GLIS3, NEDD9, PRMT1, AIMP2, FUBP1, XPO1, NEDD8, SETD7, ITGB1BP1, SEMG2, MARS2, LINGO2, SKI, TOP2A | KAT8 | MORF4L1, TP53, KANSL1, BAZ2A, HIST1H4A, MSL1, MSL2, MSL3, HCFC1, MSL3P1, HIST1H3A, KMT2A, RNF2, RBBP5, WDR5, KAT8, ATM, TPR, PRKDC, OGT, CCAR2, PHF20, PHF20L1, MCRS1, H2AFX, YWHAZ, YWHAE, BRD4, TCEB3, FOXP3, SIRT1, TNK2, PPP1CB, DYRK1B, HECW2, PAF1, PLK1, HNRNPA1, HIST1H2BG, PLAU, TP53BP1 |
| - 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 SMURF2_KAT8 |
| 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 SMURF2_KAT8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KAT8 | C0036341 | Schizophrenia | 1 | PSYGENET |
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