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Fusion gene ID: 35002 |
FusionGeneSummary for SMURF1_UAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMURF1_UAP1 | Fusion gene ID: 35002 | Hgene | Tgene | Gene symbol | SMURF1 | UAP1 | Gene ID | 57154 | 6675 |
| Gene name | SMAD specific E3 ubiquitin protein ligase 1 | UDP-N-acetylglucosamine pyrophosphorylase 1 | |
| Synonyms | - | AGX|AGX1|AGX2|SPAG2 | |
| Cytomap | 7q22.1 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase SMURF1E3 ubiquitin ligase SMURF1HECT-type E3 ubiquitin transferase SMURF1Smad ubiquitination regulatory factor 1Smad-specific E3 ubiquitin ligase 1hSMURF1 | UDP-N-acetylhexosamine pyrophosphorylaseUDP-N-acetylglucosamine diphosphorylase 1UDP-N-acetylhexosamine pyrophosphorylase 1antigen Xsperm associated antigen 2testis tissue sperm-binding protein Li 37a | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9HCE7 | Q16222 | |
| Ensembl transtripts involved in fusion gene | ENST00000361368, ENST00000361125, ENST00000480055, | ENST00000271469, ENST00000367926, ENST00000476240, ENST00000367924, ENST00000367925, | |
| Fusion gene scores | * DoF score | 16 X 5 X 12=960 | 3 X 3 X 3=27 |
| # samples | 15 | 3 | |
| ** MAII score | log2(15/960*10)=-2.67807190511264 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: SMURF1 [Title/Abstract] AND UAP1 [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 | SMURF1 | GO:0000209 | protein polyubiquitination | 19937093 |
| Hgene | SMURF1 | GO:0006511 | ubiquitin-dependent protein catabolic process | 10458166|12151385|19937093 |
| Hgene | SMURF1 | GO:0006611 | protein export from nucleus | 11278251 |
| Hgene | SMURF1 | GO:0016567 | protein ubiquitination | 11278251 |
| Hgene | SMURF1 | GO:0030154 | cell differentiation | 10458166 |
| Hgene | SMURF1 | GO:0030509 | BMP signaling pathway | 21572392 |
| Hgene | SMURF1 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 11278251|12151385 |
| Hgene | SMURF1 | GO:0030514 | negative regulation of BMP signaling pathway | 27214554 |
| Hgene | SMURF1 | GO:0030579 | ubiquitin-dependent SMAD protein catabolic process | 11278251|12151385 |
| Hgene | SMURF1 | GO:0032801 | receptor catabolic process | 12151385 |
| Hgene | SMURF1 | GO:0034394 | protein localization to cell surface | 12151385 |
| Hgene | SMURF1 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 11278251 |
| Hgene | SMURF1 | GO:1903861 | positive regulation of dendrite extension | 23999003 |
| 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 |
| ChiTaRS3.1 | AL042818 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| * 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 |
| intron-intron | ENST00000361368 | ENST00000271469 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361368 | ENST00000367926 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361368 | ENST00000476240 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361368 | ENST00000367924 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361368 | ENST00000367925 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361125 | ENST00000271469 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361125 | ENST00000367926 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361125 | ENST00000476240 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361125 | ENST00000367924 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000361125 | ENST00000367925 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000480055 | ENST00000271469 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000480055 | ENST00000367926 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000480055 | ENST00000476240 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000480055 | ENST00000367924 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
| intron-intron | ENST00000480055 | ENST00000367925 | SMURF1 | chr7 | 98647605 | + | UAP1 | chr1 | 162566157 | + |
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FusionProtFeatures for SMURF1_UAP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMURF1 | UAP1 |
| E3 ubiquitin-protein ligase that acts as a negativeregulator of BMP signaling pathway. Mediates ubiquitination anddegradation of SMAD1 and SMAD5, 2 receptor-regulated SMADsspecific for the BMP pathway. Promotes ubiquitination andsubsequent proteasomal degradation of TRAF family members andRHOA. Promotes ubiquitination and subsequent proteasomaldegradation of MAVS (PubMed:23087404). Plays a role in dendriteformation by melanocytes (PubMed:23999003).{ECO:0000269|PubMed:10458166, ECO:0000269|PubMed:19937093,ECO:0000269|PubMed:21402695, ECO:0000269|PubMed:23087404,ECO:0000269|PubMed:23999003}. | Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP andGalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higheractivity towards GalNAc-1-P, while isoform AGX2 has 8 times moreactivity towards GlcNAc-1-P. |
| 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 SMURF1_UAP1 |
| 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 SMURF1_UAP1 |
| 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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RelatedDrugs for SMURF1_UAP1 |
| 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 SMURF1_UAP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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