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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 |
| Double-strand break (DSB) repair protein involved inresponse to DNA damage, telomere dynamics and class-switchrecombination (CSR) during antibody genesis (PubMed:12364621,PubMed:22553214, PubMed:23333306, PubMed:17190600,PubMed:21144835, PubMed:28241136). Plays a key role in the repairof double-strand DNA breaks (DSBs) in response to DNA damage bypromoting non-homologous end joining (NHEJ)-mediated repair ofDSBs and specifically counteracting the function of the homologousrecombination (HR) repair protein BRCA1 (PubMed:22553214,PubMed:23727112, PubMed:23333306). In response to DSBs,phosphorylation by ATM promotes interaction with RIF1 anddissociation from NUDT16L1/TIRR, leading to recruitment to DSBssites (PubMed:28241136). Recruited to DSBs sites by recognizingand binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub)and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histonemarks that are present at DSBs sites (PubMed:23760478,PubMed:28241136, PubMed:17190600). Required for immunoglobulinclass-switch recombination (CSR) during antibody genesis, aprocess that involves the generation of DNA DSBs(PubMed:23345425). Participates to the repair and the orientationof the broken DNA ends during CSR (By similarity). In contrast, itis not required for classic NHEJ and V(D)J recombination (Bysimilarity). Promotes NHEJ of dysfunctional telomeres viainteraction with PAXIP1 (PubMed:23727112).{ECO:0000250|UniProtKB:P70399, ECO:0000269|PubMed:12364621,ECO:0000269|PubMed:17190600, ECO:0000269|PubMed:21144835,ECO:0000269|PubMed:22553214, ECO:0000269|PubMed:23333306,ECO:0000269|PubMed:23345425, ECO:0000269|PubMed:23727112,ECO:0000269|PubMed:23760478, ECO:0000269|PubMed:28241136}. | Component of a P4-ATPase flippase complex whichcatalyzes the hydrolysis of ATP coupled to the transport ofaminophospholipids from the outer to the inner leaflet of variousmembranes and ensures the maintenance of asymmetric distributionof phospholipids. Phospholipid translocation seems also to beimplicated in vesicle formation and in uptake of lipid signalingmolecules (Probable). {ECO:0000305}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TP53BP1_ATP8B4 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for TP53BP1_ATP8B4 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| TP53BP1 | TP53, RPA2, BLM, H2AFX, PAXIP1, CHEK1, DYNLL1, ATM, DCLRE1A, NFKB1, RPA1, E2F1, TFDP1, BRCA1, CHEK2, RAD18, USP28, UBE2I, PIAS4, RNF8, RNF168, MDC1, MCPH1, HDAC4, TP53I3, EP300, SETD8, HIST1H4A, HIST1H3A, ARAP1, NCOA3, SIRT7, COPS5, NEK1, NUP107, CCNT1, ACAA2, LIG4, ACR, PCNT, PSMD8, SDHB, SPAG9, GALNTL5, AAMP, CAPZA1, CAPZB, CDC27, CUX1, ARID3A, FASN, FLNA, XRCC6, KPNA1, KPNB1, KPNA3, MCM6, NUMA1, PCMT1, MAPK1, MAPK3, PSMC5, PTPN9, DPF2, RFC2, SAFB, SRSF1, SMARCD1, TMPO, TP73, TRPS1, DNAJC7, XRCC5, YWHAZ, DEK, HAT1, CDC23, CDC16, MTA2, ANAPC10, GNB2L1, PAICS, MYL12A, NUDC, STRAP, CBX3, CLASP2, RCOR1, SUN2, DHRS7B, CACYBP, ANAPC2, ANAPC4, ANAPC5, ANAPC7, PELO, UGGT1, BEND3, ANAPC1, ZBTB10, ANAPC16, FLCN, VCP, CDK1, CCNB1, PLK1, HIST2H4A, MEOX2, VAC14, UBE2L3, ENO1, SHMT2, MOV10, NXF1, MSL1, EED, SUMO2, KDM1A, THAP10, NUP50, POLR1C, SUB1, SMC6, FOXK1, FOXK2, UBC, TRIM28, PCGF1, DPPA4, NANOG, POU5F1, NFATC2, NUDT16L1, MRPS7, PRPF38A, BUB1, KAT8, LMNA | ATP8B4 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TP53BP1_ATP8B4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TP53BP1_ATP8B4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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