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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 |