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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 39138

FusionGeneSummary for TP53BP1_TP53BP1

check button Fusion gene summary
Fusion gene informationFusion gene name: TP53BP1_TP53BP1
Fusion gene ID: 39138
HgeneTgene
Gene symbol

TP53BP1

TP53BP1

Gene ID

7158

7158

Gene nametumor protein p53 binding protein 1tumor protein p53 binding protein 1
Synonyms53BP1|TDRD30|TP53|p202|p53BP153BP1|TDRD30|TP53|p202|p53BP1
Cytomap

15q15.3

15q15.3

Type of geneprotein-codingprotein-coding
DescriptionTP53-binding protein 1p53-binding protein 1tumor protein 53-binding protein, 1tumor suppressor p53-binding protein 1TP53-binding protein 1p53-binding protein 1tumor protein 53-binding protein, 1tumor suppressor p53-binding protein 1
Modification date2018052720180527
UniProtAcc

Q12888

Q12888

Ensembl transtripts involved in fusion geneENST00000263801, ENST00000382039, 
ENST00000382044, ENST00000450115, 
ENST00000605155, 
ENST00000263801, 
ENST00000382039, ENST00000382044, 
ENST00000450115, ENST00000605155, 
Fusion gene scores* DoF score6 X 6 X 5=1804 X 4 X 2=32
# samples 64
** MAII scorelog2(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 annotationTumor 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTP53BP1

GO:0006303

double-strand break repair via nonhomologous end joining

23333306|23760478|28241136

HgeneTP53BP1

GO:0006974

cellular response to DNA damage stimulus

17500065|28241136

HgeneTP53BP1

GO:0045830

positive regulation of isotype switching

23345425

HgeneTP53BP1

GO:0051260

protein homooligomerization

23345425

HgeneTP53BP1

GO:2000042

negative regulation of double-strand break repair via homologous recombination

23333306|23345425

TgeneTP53BP1

GO:0006303

double-strand break repair via nonhomologous end joining

23333306|23760478|28241136

TgeneTP53BP1

GO:0006974

cellular response to DNA damage stimulus

17500065|28241136

TgeneTP53BP1

GO:0045830

positive regulation of isotype switching

23345425

TgeneTP53BP1

GO:0051260

protein homooligomerization

23345425

TgeneTP53BP1

GO:2000042

negative regulation of double-strand break repair via homologous recombination

23333306|23345425


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF357747TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000263801ENST00000263801TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000263801ENST00000382039TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000263801ENST00000382044TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000263801ENST00000450115TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5CDS-intronENST00000263801ENST00000605155TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382039ENST00000263801TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382039ENST00000382039TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382039ENST00000382044TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382039ENST00000450115TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5CDS-intronENST00000382039ENST00000605155TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382044ENST00000263801TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382044ENST00000382039TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382044ENST00000382044TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000382044ENST00000450115TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5CDS-intronENST00000382044ENST00000605155TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000450115ENST00000263801TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000450115ENST00000382039TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000450115ENST00000382044TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
In-frameENST00000450115ENST00000450115TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5CDS-intronENST00000450115ENST00000605155TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5UTR-3CDSENST00000605155ENST00000263801TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5UTR-3CDSENST00000605155ENST00000382039TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5UTR-3CDSENST00000605155ENST00000382044TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5UTR-3CDSENST00000605155ENST00000450115TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-
5UTR-intronENST00000605155ENST00000605155TP53BP1chr15

43748090

-TP53BP1chr15

43762265

-

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FusionProtFeatures for TP53BP1_TP53BP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TP53BP1

Q12888

TP53BP1

Q12888

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}.

check buttonRetention 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

download page

.

* 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.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281642_16463881973Compositional biasNote=Poly-Ser
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281760_17643881973Compositional biasNote=Poly-Glu
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281642_16463931978Compositional biasNote=Poly-Ser
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281760_17643931978Compositional biasNote=Poly-Glu
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281724_18483881973DomainBRCT 1
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281864_19643881973DomainBRCT 2
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281724_18483931978DomainBRCT 1
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281864_19643931978DomainBRCT 2
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281396_14033881973MotifGAR
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281604_16313881973MotifUDR
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281396_14033931978MotifGAR
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281604_16313931978MotifUDR
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281484_16033881973RegionTudor-like
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281484_16033931978RegionTudor-like

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281642_16469001973Compositional biasNote=Poly-Ser
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281760_17649001973Compositional biasNote=Poly-Glu
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281642_16469051978Compositional biasNote=Poly-Ser
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281760_17649051978Compositional biasNote=Poly-Glu
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281724_18489001973DomainBRCT 1
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281864_19649001973DomainBRCT 2
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281724_18489051978DomainBRCT 1
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281864_19649051978DomainBRCT 2
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281396_14039001973MotifGAR
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281604_16319001973MotifUDR
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281396_14039051978MotifGAR
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281604_16319051978MotifUDR
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281484_16039001973RegionTudor-like
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281484_16039051978RegionTudor-like


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FusionGeneSequence for TP53BP1_TP53BP1


check button 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_TP53BP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
TP53BP1TP53, 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, LMNATP53BP1TP53, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-9281495_15233881973dimethylated histone H4
TgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-9281495_15233931978dimethylated histone H4


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000263801-12281495_15239001973dimethylated histone H4
HgeneTP53BP1chr15:43748090chr15:43762265ENST00000382044-12281495_15239051978dimethylated histone H4


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TP53BP1_TP53BP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TP53BP1_TP53BP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource