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Fusion gene ID: 10934 |
FusionGeneSummary for EDF1_ASPSCR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EDF1_ASPSCR1 | Fusion gene ID: 10934 | Hgene | Tgene | Gene symbol | EDF1 | ASPSCR1 | Gene ID | 8721 | 79058 |
| Gene name | endothelial differentiation related factor 1 | ASPSCR1, UBX domain containing tether for SLC2A4 | |
| Synonyms | CFAP280|EDF-1|MBF1 | ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9 | |
| Cytomap | 9q34.3 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endothelial differentiation-related factor 1multiprotein bridging factor 1 | tether containing UBX domain for GLUT4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome region, candidate 1alveolar soft part sarcoma locusr | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O60869 | Q9BZE9 | |
| Ensembl transtripts involved in fusion gene | ENST00000371649, ENST00000224073, ENST00000371648, | ENST00000306729, ENST00000306739, ENST00000580534, ENST00000581647, ENST00000582404, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 5 X 6=180 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EDF1 [Title/Abstract] AND ASPSCR1 [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 | EDF1 | GO:0043388 | positive regulation of DNA binding | 10567391 |
| 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 | UCS | TCGA-N5-A4RA-01A | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| * 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 |
| Frame-shift | ENST00000371649 | ENST00000306729 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| Frame-shift | ENST00000371649 | ENST00000306739 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| Frame-shift | ENST00000371649 | ENST00000580534 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| 5CDS-intron | ENST00000371649 | ENST00000581647 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| 5CDS-3UTR | ENST00000371649 | ENST00000582404 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| Frame-shift | ENST00000224073 | ENST00000306729 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| Frame-shift | ENST00000224073 | ENST00000306739 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| Frame-shift | ENST00000224073 | ENST00000580534 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| 5CDS-intron | ENST00000224073 | ENST00000581647 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| 5CDS-3UTR | ENST00000224073 | ENST00000582404 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| intron-3CDS | ENST00000371648 | ENST00000306729 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| intron-3CDS | ENST00000371648 | ENST00000306739 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| intron-3CDS | ENST00000371648 | ENST00000580534 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| intron-intron | ENST00000371648 | ENST00000581647 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
| intron-3UTR | ENST00000371648 | ENST00000582404 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
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FusionProtFeatures for EDF1_ASPSCR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EDF1 | ASPSCR1 |
| Transcriptional coactivator stimulating NR5A1 andligand-dependent NR1H3/LXRA and PPARG transcriptional activities.Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1.Regulates nitric oxid synthase activity probably by sequesteringcalmodulin in the cytoplasm. May function in endothelial cellsdifferentiation, hormone-induced cardiomyocytes hypertrophy andlipid metabolism. {ECO:0000269|PubMed:10567391,ECO:0000269|PubMed:12040021, ECO:0000269|PubMed:15112053,ECO:0000269|PubMed:9813014}. | Tethering protein that sequesters GLUT4-containingvesicles in the cytoplasm in the absence of insulin. Modulates theamount of GLUT4 that is available at the cell surface (Bysimilarity). Enhances VCP methylation catalyzed by VCPKMT.{ECO:0000250, ECO:0000269|PubMed:23349634}. |
| 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 EDF1_ASPSCR1 |
| 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 EDF1_ASPSCR1 |
| 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 |
| EDF1 | NR5A2, NR1H3, PPARG, RXRA, TBP, NR5A1, JUN, NRL, CEBPA, MAPK6, UBE2I, IDH3G, MEOX2, MOV10, SOX4, DNAJB1, DHX29, IMPDH1, RNASEH2A, HNRNPF, HIST1H3A, EWSR1, DPPA4, NANOG, RC3H1, TRIM25 | ASPSCR1 | UBC, VCP, ALPP, NPLOC4, UFD1L, VCPIP1, PHAX, NEDD4, UBXN6, APP, VCPKMT, DCAF11, KRT31, TCF4, TACC3, ADAMTSL4, KRTAP10-8, NOTCH2NL, EZH2, GAPDH, GLUL, UBXN2B, HPD, MAT1A, NSF, AGL, BANF1, DERA, YTHDF1, YTHDF2, NTRK1, UBXN2A, UBXN7, NSFL1C, UBXN10, FAF1, KCTD3, FAM136A, SHKBP1, HAO2, ASNA1, HK1, HACL1, SERPINB2, GLTP, FADS1 |
| - 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 EDF1_ASPSCR1 |
| 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 EDF1_ASPSCR1 |
| 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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