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Fusion gene ID: 16016 |
FusionGeneSummary for HEATR5B_TBL1X |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HEATR5B_TBL1X | Fusion gene ID: 16016 | Hgene | Tgene | Gene symbol | HEATR5B | TBL1X | Gene ID | 54497 | 6907 |
| Gene name | HEAT repeat containing 5B | transducin beta like 1 X-linked | |
| Synonyms | - | EBI|SMAP55|TBL1 | |
| Cytomap | 2p22.2 | Xp22.31-p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | HEAT repeat-containing protein 5B | F-box-like/WD repeat-containing protein TBL1Xtransducin beta like 1X-linkedtransducin beta-like protein 1Xtransducin-beta-like protein 1, X-linked | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9P2D3 | O60907 | |
| Ensembl transtripts involved in fusion gene | ENST00000233099, ENST00000354531, | ENST00000407597, ENST00000424279, ENST00000536365, ENST00000380961, ENST00000217964, ENST00000497555, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 7 X 8 X 2=112 |
| # samples | 5 | 8 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HEATR5B [Title/Abstract] AND TBL1X [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 |
| Tgene | TBL1X | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12628926 |
| Tgene | TBL1X | GO:0045893 | positive regulation of transcription, DNA-templated | 18193033 |
| Tgene | TBL1X | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18193033 |
| 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 | AW993932 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| * 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-intron | ENST00000233099 | ENST00000407597 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000233099 | ENST00000424279 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000233099 | ENST00000536365 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000233099 | ENST00000380961 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000233099 | ENST00000217964 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000233099 | ENST00000497555 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000354531 | ENST00000407597 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000354531 | ENST00000424279 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000354531 | ENST00000536365 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000354531 | ENST00000380961 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000354531 | ENST00000217964 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
| intron-intron | ENST00000354531 | ENST00000497555 | HEATR5B | chr2 | 37244584 | + | TBL1X | chrX | 9596866 | - |
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FusionProtFeatures for HEATR5B_TBL1X |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HEATR5B | TBL1X |