![]() |
||||||
|
![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:EDF1-ASPSCR1 (FusionGDB2 ID:HG8721TG79058) |
Fusion Gene Summary for EDF1-ASPSCR1 |
![]() |
Fusion gene information | Fusion gene name: EDF1-ASPSCR1 | Fusion gene ID: hg8721tg79058 | Hgene | Tgene | Gene symbol | EDF1 | ASPSCR1 | Gene ID | 8721 | 79058 |
Gene name | endothelial differentiation related factor 1 | ASPSCR1 tether for SLC2A4, UBX domain containing | |
Synonyms | CFAP280|EDF-1|MBF1 | ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9 | |
Cytomap | ('EDF1')('ASPSCR1') 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 GLUT4ASPSCR1, UBX domain containing tether for SLC2A4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome regio | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O60869 | Q9BZE9 | |
Ensembl transtripts involved in fusion gene | ENST00000224073, ENST00000371649, ENST00000371648, | ||
Fusion gene scores | * DoF score | 12 X 9 X 8=864 | 16 X 16 X 12=3072 |
# samples | 14 | 19 | |
** MAII score | log2(14/864*10)=-2.6256044852185 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/3072*10)=-4.01510689239021 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] | ||
Most frequent breakpoint | EDF1(139757358)-ASPSCR1(79974352), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | EDF1-ASPSCR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. EDF1-ASPSCR1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. EDF1-ASPSCR1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | EDF1 | GO:0043388 | positive regulation of DNA binding | 10567391 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | UCS | TCGA-N5-A4RA-01A | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
ChimerDB4 | UCS | TCGA-N5-A4RA | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
Top |
Fusion Gene ORF analysis for EDF1-ASPSCR1 |
![]() * 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-3UTR | ENST00000224073 | ENST00000582404 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
5CDS-3UTR | ENST00000371649 | ENST00000582404 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
5CDS-intron | ENST00000224073 | ENST00000581647 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
5CDS-intron | ENST00000371649 | ENST00000581647 | 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 | + |
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 | + |
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-3UTR | ENST00000371648 | ENST00000582404 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
intron-intron | ENST00000371648 | ENST00000581647 | EDF1 | chr9 | 139757358 | - | ASPSCR1 | chr17 | 79974352 | + |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for EDF1-ASPSCR1 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
EDF1 | chr9 | 139757357 | - | ASPSCR1 | chr17 | 79974351 | + | 0.000167751 | 0.9998323 |
EDF1 | chr9 | 139757357 | - | ASPSCR1 | chr17 | 79974351 | + | 0.000167751 | 0.9998323 |
EDF1 | chr9 | 139757357 | - | ASPSCR1 | chr17 | 79974351 | + | 0.000167751 | 0.9998323 |
EDF1 | chr9 | 139757357 | - | ASPSCR1 | chr17 | 79974351 | + | 0.000167751 | 0.9998323 |
![]() |
![]() |
Top |
Fusion Protein Features for EDF1-ASPSCR1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:139757358/:79974352) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
![]() |
![]() |
Hgene | Tgene |
EDF1 | ASPSCR1 |
FUNCTION: Transcriptional coactivator stimulating NR5A1 and ligand-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 sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism. {ECO:0000269|PubMed:10567391, ECO:0000269|PubMed:12040021, ECO:0000269|PubMed:15112053, ECO:0000269|PubMed:9813014}. | FUNCTION: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. {ECO:0000250, ECO:0000269|PubMed:23349634}. |
![]() * 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 |
Top |
Fusion Gene Sequence for EDF1-ASPSCR1 |
![]() |
Top |
Fusion Gene PPI Analysis for EDF1-ASPSCR1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for EDF1-ASPSCR1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for EDF1-ASPSCR1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C4518356 | MiT family translocation renal cell carcinoma | 3 | ORPHANET | |
Tgene | C0206657 | Alveolar Soft Part Sarcoma | 1 | CTD_human;ORPHANET |