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Fusion gene ID: 39133 |
FusionGeneSummary for TP53BP1_ATP8B4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TP53BP1_ATP8B4 | Fusion gene ID: 39133 | Hgene | Tgene | Gene symbol | TP53BP1 | ATP8B4 | Gene ID | 7158 | 79895 |
| Gene name | tumor protein p53 binding protein 1 | ATPase phospholipid transporting 8B4 (putative) | |
| Synonyms | 53BP1|TDRD30|TP53|p202|p53BP1 | ATPIM | |
| Cytomap | 15q15.3 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TP53-binding protein 1p53-binding protein 1tumor protein 53-binding protein, 1tumor suppressor p53-binding protein 1 | probable phospholipid-transporting ATPase IMATPase, class I, type 8B, member 4P4-ATPase flippase complex alpha subunit ATP8B4potential phospholipid-transporting ATPase IM | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q12888 | Q8TF62 | |
| Ensembl transtripts involved in fusion gene | ENST00000263801, ENST00000382039, ENST00000382044, ENST00000450115, ENST00000605155, | ENST00000284509, ENST00000559829, ENST00000558959, | |
| Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 7 X 6 X 5=210 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TP53BP1 [Title/Abstract] AND ATP8B4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | TP53BP1 | GO:0006303 | double-strand break repair via nonhomologous end joining | 23333306|23760478|28241136 |
| Hgene | TP53BP1 | GO:0006974 | cellular response to DNA damage stimulus | 17500065|28241136 |
| Hgene | TP53BP1 | GO:0045830 | positive regulation of isotype switching | 23345425 |
| Hgene | TP53BP1 | GO:0051260 | protein homooligomerization | 23345425 |
| Hgene | TP53BP1 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 23333306|23345425 |
| 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 | SARC | TCGA-FX-A3NK-01A | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| * 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 | ENST00000263801 | ENST00000284509 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000263801 | ENST00000559829 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| 5CDS-intron | ENST00000263801 | ENST00000558959 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000382039 | ENST00000284509 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000382039 | ENST00000559829 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| 5CDS-intron | ENST00000382039 | ENST00000558959 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000382044 | ENST00000284509 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000382044 | ENST00000559829 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| 5CDS-intron | ENST00000382044 | ENST00000558959 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000450115 | ENST00000284509 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| Frame-shift | ENST00000450115 | ENST00000559829 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| 5CDS-intron | ENST00000450115 | ENST00000558959 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| intron-3CDS | ENST00000605155 | ENST00000284509 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| intron-3CDS | ENST00000605155 | ENST00000559829 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
| intron-intron | ENST00000605155 | ENST00000558959 | TP53BP1 | chr15 | 43762056 | - | ATP8B4 | chr15 | 50366382 | - |
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FusionProtFeatures for TP53BP1_ATP8B4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TP53BP1 | ATP8B4 |