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Fusion gene ID: 12495 |
FusionGeneSummary for FAM118A_ESPL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM118A_ESPL1 | Fusion gene ID: 12495 | Hgene | Tgene | Gene symbol | FAM118A | ESPL1 | Gene ID | 55007 | 9700 |
| Gene name | family with sequence similarity 118 member A | extra spindle pole bodies like 1, separase | |
| Synonyms | C22orf8 | ESP1|SEPA | |
| Cytomap | 22q13.31 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM118AbK268H5.C22.4 | separincaspase-like protein ESPL1extra spindle pole bodies 1, separaseextra spindle pole bodies homolog 1extra spindle poles like 1extra spindle poles-like 1 proteinseparin, cysteine protease | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9NWS6 | Q14674 | |
| Ensembl transtripts involved in fusion gene | ENST00000491671, ENST00000216214, ENST00000441876, ENST00000405673, ENST00000405548, | ENST00000257934, ENST00000552462, ENST00000550026, | |
| Fusion gene scores | * DoF score | 7 X 4 X 6=168 | 2 X 2 X 2=8 |
| # samples | 7 | 2 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: FAM118A [Title/Abstract] AND ESPL1 [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 |
| 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 | AL046060 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| * 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-3CDS | ENST00000491671 | ENST00000257934 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000491671 | ENST00000552462 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-intron | ENST00000491671 | ENST00000550026 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000216214 | ENST00000257934 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000216214 | ENST00000552462 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-intron | ENST00000216214 | ENST00000550026 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000441876 | ENST00000257934 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000441876 | ENST00000552462 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-intron | ENST00000441876 | ENST00000550026 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000405673 | ENST00000257934 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000405673 | ENST00000552462 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-intron | ENST00000405673 | ENST00000550026 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000405548 | ENST00000257934 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-3CDS | ENST00000405548 | ENST00000552462 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
| intron-intron | ENST00000405548 | ENST00000550026 | FAM118A | chr22 | 45732948 | + | ESPL1 | chr12 | 53679941 | + |
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FusionProtFeatures for FAM118A_ESPL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM118A | ESPL1 |