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Fusion gene ID: 25444 |
FusionGeneSummary for OPHN1_AKIRIN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OPHN1_AKIRIN1 | Fusion gene ID: 25444 | Hgene | Tgene | Gene symbol | OPHN1 | AKIRIN1 | Gene ID | 4983 | 79647 |
| Gene name | oligophrenin 1 | akirin 1 | |
| Synonyms | ARHGAP41|MRX60|OPN1 | C1orf108|STRF2 | |
| Cytomap | Xq12 | 1p34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | oligophrenin-1mental retardation, X-linked 60oligophrenin-1, Rho-GTPase activating protein | akirin-1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O60890 | Q9H9L7 | |
| Ensembl transtripts involved in fusion gene | ENST00000355520, ENST00000540071, ENST00000484842, | ENST00000432648, ENST00000446189, ENST00000372984, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 7 X 8 X 3=168 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: OPHN1 [Title/Abstract] AND AKIRIN1 [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 | AA160383 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| * 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 | ENST00000355520 | ENST00000432648 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-intron | ENST00000355520 | ENST00000446189 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-intron | ENST00000355520 | ENST00000372984 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-3CDS | ENST00000540071 | ENST00000432648 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-intron | ENST00000540071 | ENST00000446189 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-intron | ENST00000540071 | ENST00000372984 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-3CDS | ENST00000484842 | ENST00000432648 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-intron | ENST00000484842 | ENST00000446189 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
| intron-intron | ENST00000484842 | ENST00000372984 | OPHN1 | chrX | 67352991 | - | AKIRIN1 | chr1 | 39466658 | + |
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FusionProtFeatures for OPHN1_AKIRIN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OPHN1 | AKIRIN1 |