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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: 39139

FusionGeneSummary for TP53BP2_GRHL2

check button Fusion gene summary
Fusion gene informationFusion gene name: TP53BP2_GRHL2
Fusion gene ID: 39139
HgeneTgene
Gene symbol

TP53BP2

GRHL2

Gene ID

7159

79977

Gene nametumor protein p53 binding protein 2grainyhead like transcription factor 2
Synonyms53BP2|ASPP2|BBP|P53BP2|PPP1R13ABOM|DFNA28|ECTDS|TFCP2L3
Cytomap

1q41

8q22.3

Type of geneprotein-codingprotein-coding
Descriptionapoptosis-stimulating of p53 protein 2BCL2-binding proteinapoptosis-stimulating protein of p53, 2renal carcinoma antigen NY-REN-51tumor suppressor p53-binding protein 2grainyhead-like protein 2 homologbrother of mammalian grainyheadgrainyhead-like 2transcription factor CP2-like 3
Modification date2018052320180523
UniProtAcc

Q13625

Q6ISB3

Ensembl transtripts involved in fusion geneENST00000391878, ENST00000343537, 
ENST00000391879, ENST00000498843, 
ENST00000251808, ENST00000395927, 
ENST00000517674, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 3 X 3=27
# samples 33
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TP53BP2 [Title/Abstract] AND GRHL2 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTP53BP2

GO:0072332

intrinsic apoptotic signaling pathway by p53 class mediator

11684014

TgeneGRHL2

GO:0008544

epidermis development

23254293

TgeneGRHL2

GO:0044030

regulation of DNA methylation

23254293

TgeneGRHL2

GO:0045617

negative regulation of keratinocyte differentiation

23254293

TgeneGRHL2

GO:0045944

positive regulation of transcription by RNA polymerase II

23814079


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
TCGALDOVTCGA-61-2092-01ATP53BP2chr1

224001942

-GRHL2chr8

102631767

+
* 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
5UTR-3CDSENST00000391878ENST00000251808TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
5UTR-3CDSENST00000391878ENST00000395927TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
5UTR-intronENST00000391878ENST00000517674TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
Frame-shiftENST00000343537ENST00000251808TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
Frame-shiftENST00000343537ENST00000395927TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
5CDS-intronENST00000343537ENST00000517674TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
intron-3CDSENST00000391879ENST00000251808TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
intron-3CDSENST00000391879ENST00000395927TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
intron-intronENST00000391879ENST00000517674TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
intron-3CDSENST00000498843ENST00000251808TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
intron-3CDSENST00000498843ENST00000395927TP53BP2chr1

224001942

-GRHL2chr8

102631767

+
intron-intronENST00000498843ENST00000517674TP53BP2chr1

224001942

-GRHL2chr8

102631767

+

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FusionProtFeatures for TP53BP2_GRHL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TP53BP2

Q13625

GRHL2

Q6ISB3

Regulator that plays a central role in regulation ofapoptosis and cell growth via its interactions. Regulates TP53 byenhancing the DNA binding and transactivation function of TP53 onthe promoters of proapoptotic genes in vivo. Inhibits the abilityof APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1ability to induce apoptosis. Impedes cell cycle progression atG2/M. Its apoptosis-stimulating activity is inhibited by itsinteraction with DDX42. {ECO:0000269|PubMed:11684014,ECO:0000269|PubMed:12694406, ECO:0000269|PubMed:19377511}. Transcription factor playing an important role inprimary neurulation and in epithelial development(PubMed:29309642, PubMed:25152456). Binds directly to theconsensus DNA sequence 5'-AACCGGTT-3' acting as an activator andrepressor on distinct target genes (By similarity). Duringembryogenesis, plays unique and cooperative roles with GRHL3 inestablishing distinct zones of primary neurulation. Essential forclosure 3 (rostral end of the forebrain), functions cooperativelywith GRHL3 in closure 2 (forebrain/midbrain boundary) andposterior neuropore closure (By similarity). Regulates epithelialmorphogenesis acting as a target gene-associated transcriptionalactivator of apical junctional complex components. Up-regulates ofCLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4protein and its localization at tight junctions (By similarity).Comprises an essential component of the transcriptional machinerythat establishes appropriate expression levels of CLDN4 and CDH1in different types of epithelia. Exhibits functional redundancywith GRHL3 in epidermal morphogenetic events and epidermal woundrepair (By similarity). In lung, forms a regulatory loop withNKX2-1 that coordinates lung epithelial cell morphogenesis anddifferentiation (By similarity). In keratinocytes, plays a role intelomerase activation during cellular proliferation, regulatesTERT expression by binding to TERT promoter region and inhibitingDNA methylation at the 5'-CpG island, possibly by interfering withDNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). Inaddition, impairs keratinocyte differentiation and epidermalfunction by inhibiting the expression of genes clustered at theepidermal differentiation complex (EDC) as well as GRHL1 and GRHL3through epigenetic mechanisms (PubMed:23254293).{ECO:0000250|UniProtKB:Q8K5C0, ECO:0000269|PubMed:19015635,ECO:0000269|PubMed:20938050, ECO:0000269|PubMed:20978075,ECO:0000269|PubMed:23254293, ECO:0000269|PubMed:25152456,ECO:0000269|PubMed:29309642, ECO:0000305|PubMed:12175488}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TP53BP2_GRHL2


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 TP53BP2_GRHL2


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
TP53BP2BCL2, USP4, MRPL20, EEF1A1, KIF5A, PTN, UTP14A, UNC119, YAP1, TP53, BECN1, MAPK8IP2, CSNK2B, BCL2L1, PLK1, PPHLN1, PPP1CA, WWTR1, NAE1, ATXN7, PPP1CC, YWHAE, SIAH2, SIAH1, YWHAQ, AMOT, AMOTL2, LATS2, YWHAB, PRKAB2, GRB2, POLR2L, PPP1CB, ZNF26, TCL1A, HIST1H2BC, LMO4, TRAF4, TANK, NDC80, BAIAP2, NXF1, HNRNPUL1, PRPF31, UBASH3A, DCUN1D1, TBC1D22B, MTMR14, OTUB2, CCDC92, PLEKHN1, ZGPAT, ATPAF2, SSX2IP, CWF19L2, TXLNA, NUTM1, EP300, FRMD6, CCDC101, SRGAP3, HOMER1, RASSF8, RASSF7, ANXA1, CCDC85B, CCDC85C, CPVL, HSPH1, HSPA4, PPP1R2, PARD3, RASSF9, PPP1R3A, RASSF10, ITCH, STAM2, MED4, OFD1, PCM1, CEP97, CEP104, CEP162, CEP120, CEP152, CNTROB, CEP128, CEP135, CEP44, CEP89, CNTRL, FBF1, NINL, NIN, ODF2, RPGRIP1L, SCLT1, DYNLT1, RPGRIP1, CENPJ, YWHAH, YWHAZ, PARD6A, PARD6B, CDH1, PRPF19, P4HA3, APC2, PPP1R7GRHL2GRHL3, APP, LMO4, GRHL1, FOXA1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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


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RelatedDrugs for TP53BP2_GRHL2


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 TP53BP2_GRHL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGRHL2C4014987ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME1ORPHANET;UNIPROT