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Fusion gene ID: 35091 |
FusionGeneSummary for SND1_SMURF2 |
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Fusion gene information | Fusion gene name: SND1_SMURF2 | Fusion gene ID: 35091 | Hgene | Tgene | Gene symbol | SND1 | SMURF2 | Gene ID | 27044 | 64750 |
Gene name | staphylococcal nuclease and tudor domain containing 1 | SMAD specific E3 ubiquitin protein ligase 2 | |
Synonyms | TDRD11|Tudor-SN|p100 | - | |
Cytomap | 7q32.1 | 17q23.3-q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | staphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11 | E3 ubiquitin-protein ligase SMURF2E3 ubiquitin ligase SMURF2HECT-type E3 ubiquitin transferase SMURF2SMAD ubiquitination regulatory factor 2hSMURF2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q7KZF4 | Q9HAU4 | |
Ensembl transtripts involved in fusion gene | ENST00000354725, ENST00000467238, | ENST00000262435, ENST00000578200, | |
Fusion gene scores | * DoF score | 13 X 14 X 7=1274 | 3 X 3 X 2=18 |
# samples | 20 | 3 | |
** MAII score | log2(20/1274*10)=-2.67129337248158 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: SND1 [Title/Abstract] AND SMURF2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SMURF2 | GO:0006511 | ubiquitin-dependent protein catabolic process | 14755250 |
Tgene | SMURF2 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 19255252 |
Tgene | SMURF2 | GO:0030579 | ubiquitin-dependent SMAD protein catabolic process | 19122240 |
Tgene | SMURF2 | GO:1901165 | positive regulation of trophoblast cell migration | 19255252 |
![]() (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 | M78490 | SND1 | chr7 | 127635582 | - | SMURF2 | chr17 | 62559813 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000354725 | ENST00000262435 | SND1 | chr7 | 127635582 | - | SMURF2 | chr17 | 62559813 | - |
intron-intron | ENST00000354725 | ENST00000578200 | SND1 | chr7 | 127635582 | - | SMURF2 | chr17 | 62559813 | - |
intron-intron | ENST00000467238 | ENST00000262435 | SND1 | chr7 | 127635582 | - | SMURF2 | chr17 | 62559813 | - |
intron-intron | ENST00000467238 | ENST00000578200 | SND1 | chr7 | 127635582 | - | SMURF2 | chr17 | 62559813 | - |
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FusionProtFeatures for SND1_SMURF2 |
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Hgene | Tgene |
SND1 | SMURF2 |
Functions as a bridging factor between STAT6 and thebasal transcription factor. Plays a role in PIM1 regulation of MYBactivity. Functions as a transcriptional coactivator for theEpstein-Barr virus nuclear antigen 2 (EBNA2).{ECO:0000269|PubMed:7651391}. | 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}. |
![]() * 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 SND1_SMURF2 |
![]() (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 SND1_SMURF2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SND1_SMURF2 |
![]() (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 SND1_SMURF2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SND1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | SND1 | C0024121 | Lung Neoplasms | 1 | CTD_human |