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Fusion gene ID: 39138 |
FusionGeneSummary for TP53BP1_TP53BP1 |
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Fusion gene information | Fusion gene name: TP53BP1_TP53BP1 | Fusion gene ID: 39138 | Hgene | Tgene | Gene symbol | TP53BP1 | TP53BP1 | Gene ID | 7158 | 7158 |
Gene name | tumor protein p53 binding protein 1 | tumor protein p53 binding protein 1 | |
Synonyms | 53BP1|TDRD30|TP53|p202|p53BP1 | 53BP1|TDRD30|TP53|p202|p53BP1 | |
Cytomap | 15q15.3 | 15q15.3 | |
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 | TP53-binding protein 1p53-binding protein 1tumor protein 53-binding protein, 1tumor suppressor p53-binding protein 1 | |
Modification date | 20180527 | 20180527 | |
UniProtAcc | Q12888 | Q12888 | |
Ensembl transtripts involved in fusion gene | ENST00000263801, ENST00000382039, ENST00000382044, ENST00000450115, ENST00000605155, | ENST00000263801, ENST00000382039, ENST00000382044, ENST00000450115, ENST00000605155, | |
Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 4 X 4 X 2=32 |
# samples | 6 | 4 | |
** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TP53BP1 [Title/Abstract] AND TP53BP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. 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. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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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 |
Tgene | TP53BP1 | GO:0006303 | double-strand break repair via nonhomologous end joining | 23333306|23760478|28241136 |
Tgene | TP53BP1 | GO:0006974 | cellular response to DNA damage stimulus | 17500065|28241136 |
Tgene | TP53BP1 | GO:0045830 | positive regulation of isotype switching | 23345425 |
Tgene | TP53BP1 | GO:0051260 | protein homooligomerization | 23345425 |
Tgene | TP53BP1 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 23333306|23345425 |
![]() (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 | BF357747 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000263801 | ENST00000263801 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000263801 | ENST00000382039 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000263801 | ENST00000382044 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000263801 | ENST00000450115 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5CDS-intron | ENST00000263801 | ENST00000605155 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382039 | ENST00000263801 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382039 | ENST00000382039 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382039 | ENST00000382044 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382039 | ENST00000450115 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5CDS-intron | ENST00000382039 | ENST00000605155 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382044 | ENST00000263801 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382044 | ENST00000382039 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382044 | ENST00000382044 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000382044 | ENST00000450115 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5CDS-intron | ENST00000382044 | ENST00000605155 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000450115 | ENST00000263801 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000450115 | ENST00000382039 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000450115 | ENST00000382044 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
In-frame | ENST00000450115 | ENST00000450115 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5CDS-intron | ENST00000450115 | ENST00000605155 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5UTR-3CDS | ENST00000605155 | ENST00000263801 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5UTR-3CDS | ENST00000605155 | ENST00000382039 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5UTR-3CDS | ENST00000605155 | ENST00000382044 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5UTR-3CDS | ENST00000605155 | ENST00000450115 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
5UTR-intron | ENST00000605155 | ENST00000605155 | TP53BP1 | chr15 | 43748090 | - | TP53BP1 | chr15 | 43762265 | - |
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FusionProtFeatures for TP53BP1_TP53BP1 |
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Hgene | Tgene |
TP53BP1 | TP53BP1 |
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}. | 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}. |
![]() * 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 |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1642_1646 | 388 | 1973 | Compositional bias | Note=Poly-Ser |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1760_1764 | 388 | 1973 | Compositional bias | Note=Poly-Glu |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1642_1646 | 393 | 1978 | Compositional bias | Note=Poly-Ser |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1760_1764 | 393 | 1978 | Compositional bias | Note=Poly-Glu |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1724_1848 | 388 | 1973 | Domain | BRCT 1 |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1864_1964 | 388 | 1973 | Domain | BRCT 2 |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1724_1848 | 393 | 1978 | Domain | BRCT 1 |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1864_1964 | 393 | 1978 | Domain | BRCT 2 |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1396_1403 | 388 | 1973 | Motif | GAR |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1604_1631 | 388 | 1973 | Motif | UDR |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1396_1403 | 393 | 1978 | Motif | GAR |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1604_1631 | 393 | 1978 | Motif | UDR |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1484_1603 | 388 | 1973 | Region | Tudor-like |
Tgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1484_1603 | 393 | 1978 | Region | Tudor-like |
- 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 |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1642_1646 | 900 | 1973 | Compositional bias | Note=Poly-Ser |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1760_1764 | 900 | 1973 | Compositional bias | Note=Poly-Glu |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1642_1646 | 905 | 1978 | Compositional bias | Note=Poly-Ser |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1760_1764 | 905 | 1978 | Compositional bias | Note=Poly-Glu |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1724_1848 | 900 | 1973 | Domain | BRCT 1 |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1864_1964 | 900 | 1973 | Domain | BRCT 2 |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1724_1848 | 905 | 1978 | Domain | BRCT 1 |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1864_1964 | 905 | 1978 | Domain | BRCT 2 |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1396_1403 | 900 | 1973 | Motif | GAR |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1604_1631 | 900 | 1973 | Motif | UDR |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1396_1403 | 905 | 1978 | Motif | GAR |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1604_1631 | 905 | 1978 | Motif | UDR |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1484_1603 | 900 | 1973 | Region | Tudor-like |
Hgene | >TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1484_1603 | 905 | 1978 | Region | Tudor-like |
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FusionGeneSequence for TP53BP1_TP53BP1 |
![]() (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_TP53BP1 |
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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 | 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 9 | 28 | 1495_1523 | 388 | 1973 | dimethylated histone H4 |
Tgene | TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 9 | 28 | 1495_1523 | 393 | 1978 | dimethylated histone H4 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000263801 | - | 12 | 28 | 1495_1523 | 900 | 1973 | dimethylated histone H4 |
Hgene | TP53BP1 | chr15:43748090 | chr15:43762265 | ENST00000382044 | - | 12 | 28 | 1495_1523 | 905 | 1978 | dimethylated histone H4 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TP53BP1_TP53BP1 |
![]() (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_TP53BP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |