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Fusion gene ID: 33948 |
FusionGeneSummary for SKAP1_HOXB9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SKAP1_HOXB9 | Fusion gene ID: 33948 | Hgene | Tgene | Gene symbol | SKAP1 | HOXB9 | Gene ID | 8631 | 3219 |
| Gene name | src kinase associated phosphoprotein 1 | homeobox B9 | |
| Synonyms | HEL-S-81p|SCAP1|SKAP55 | HOX-2.5|HOX2|HOX2E | |
| Cytomap | 17q21.32 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | src kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa | homeobox protein Hox-B9homeo box 2Ehomeo box B9homeobox protein Hox-2.5homeobox protein Hox-2E | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q86WV1 | P17482 | |
| Ensembl transtripts involved in fusion gene | ENST00000336915, ENST00000584924, | ENST00000311177, ENST00000550387, | |
| Fusion gene scores | * DoF score | 16 X 4 X 7=448 | 3 X 3 X 3=27 |
| # samples | 16 | 3 | |
| ** MAII score | log2(16/448*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SKAP1 [Title/Abstract] AND HOXB9 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 | SKAP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11909961 |
| Tgene | HOXB9 | GO:0060326 | cell chemotaxis | 19576624 |
| 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 | RV | OV | TCGA-VG-A8LO-01A | SKAP1 | chr17 | 46423267 | - | HOXB9 | chr17 | 46700497 | - |
| * 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 |
| In-frame | ENST00000336915 | ENST00000311177 | SKAP1 | chr17 | 46423267 | - | HOXB9 | chr17 | 46700497 | - |
| Frame-shift | ENST00000336915 | ENST00000550387 | SKAP1 | chr17 | 46423267 | - | HOXB9 | chr17 | 46700497 | - |
| In-frame | ENST00000584924 | ENST00000311177 | SKAP1 | chr17 | 46423267 | - | HOXB9 | chr17 | 46700497 | - |
| Frame-shift | ENST00000584924 | ENST00000550387 | SKAP1 | chr17 | 46423267 | - | HOXB9 | chr17 | 46700497 | - |
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FusionProtFeatures for SKAP1_HOXB9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SKAP1 | HOXB9 |