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TP53BP1 (tumor protein p53 binding protein 1)

Identity

Other names53BP1
TDRD30
TP53
p202
p53BP1
HGNC (Hugo) TP53BP1
LocusID (NCBI) 7158
Atlas_Id 189
Location 15q15.3  [Link to chromosome band 15q15]
Location_base_pair Starts at 43699412 and ends at 43785354 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DOCK10 (2q36.2) / TP53BP1 (15q15.3)KATNBL1 (15q14) / TP53BP1 (15q15.3)PGK1 (Xq21.1) / TP53BP1 (15q15.3)
TP53BP1 (15q15.3) / CLEC18A (16q22.1)TP53BP1 (15q15.3) / DMXL2 (15q21.2)TP53BP1 (15q15.3) / PDGFRB (5q32)
TP53BP1 (15q15.3) / STAU2 (8q21.11)TP53BP1 (15q15.3) / TP53BP1 (15q15.3)TP53BP1 15q15.3 / DMXL2 15q21.2
TP53BP1 15q15.3 / STAU2 8q21.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;15)(q33;q22) TP53BP1/PDGFRB

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dysplastic nevus syndrome (DNS)

External links

Nomenclature
HGNC (Hugo)TP53BP1   11999
Cards
Entrez_Gene (NCBI)TP53BP1  7158  tumor protein p53 binding protein 1
Aliases53BP1; TDRD30; TP53; p202; 
p53BP1
GeneCards (Weizmann)TP53BP1
Ensembl hg19 (Hinxton)ENSG00000067369 [Gene_View]  chr15:43699412-43785354 [Contig_View]  TP53BP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000067369 [Gene_View]  chr15:43699412-43785354 [Contig_View]  TP53BP1 [Vega]
ICGC DataPortalENSG00000067369
TCGA cBioPortalTP53BP1
AceView (NCBI)TP53BP1
Genatlas (Paris)TP53BP1
WikiGenes7158
SOURCE (Princeton)TP53BP1
Genomic and cartography
GoldenPath hg19 (UCSC)TP53BP1  -     chr15:43699412-43785354 -  15q15.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TP53BP1  -     15q15.3   [Description]    (hg38-Dec_2013)
EnsemblTP53BP1 - 15q15.3 [CytoView hg19]  TP53BP1 - 15q15.3 [CytoView hg38]
Mapping of homologs : NCBITP53BP1 [Mapview hg19]  TP53BP1 [Mapview hg38]
OMIM605230   
Gene and transcription
Genbank (Entrez)AB210025 AF078776 AK123418 AK125173 AK292915
RefSeq transcript (Entrez)NM_001141979 NM_001141980 NM_005657
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)TP53BP1
Cluster EST : UnigeneHs.584887 [ NCBI ]
CGAP (NCI)Hs.584887
Alternative Splicing GalleryENSG00000067369
Gene ExpressionTP53BP1 [ NCBI-GEO ]   TP53BP1 [ EBI - ARRAY_EXPRESS ]   TP53BP1 [ SEEK ]   TP53BP1 [ MEM ]
Gene Expression Viewer (FireBrowse)TP53BP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7158
GTEX Portal (Tissue expression)TP53BP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12888 (Uniprot)
NextProtQ12888  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12888
Splice isoforms : SwissVarQ12888 (Swissvar)
PhosPhoSitePlusQ12888
Domaine pattern : Prosite (Expaxy)BRCT (PS50172)   
Domains : Interpro (EBI)53-BP1_Tudor    BRCT_dom    Rib_L2_dom2   
Domain families : Pfam (Sanger)53-BP1_Tudor (PF09038)   
Domain families : Pfam (NCBI)pfam09038   
Domain families : Smart (EMBL)BRCT (SM00292)  
DMDM Disease mutations7158
Blocks (Seattle)TP53BP1
PDB (SRS)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
PDB (PDBSum)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
PDB (IMB)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
PDB (RSDB)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
Structural Biology KnowledgeBase1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
SCOP (Structural Classification of Proteins)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
CATH (Classification of proteins structures)1GZH    1KZY    1XNI    2G3R    2IG0    2LVM    2MWO    2MWP    3LGF    3LGL    3LH0    4CRI    4RG2    4X34    5ECG   
SuperfamilyQ12888
Human Protein AtlasENSG00000067369
Peptide AtlasQ12888
HPRD05569
IPIIPI00029778   IPI00742743   IPI00657708   IPI00657704   IPI00853388   IPI00853439   IPI00877813   IPI00894549   IPI00892902   
Protein Interaction databases
DIP (DOE-UCLA)Q12888
IntAct (EBI)Q12888
FunCoupENSG00000067369
BioGRIDTP53BP1
STRING (EMBL)TP53BP1
ZODIACTP53BP1
Ontologies - Pathways
QuickGOQ12888
Ontology : AmiGODNA damage checkpoint  condensed chromosome kinetochore  chromosome, telomeric region  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription cofactor activity  p53 binding  DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  double-strand break repair via nonhomologous end joining  transcription, DNA-templated  cellular response to DNA damage stimulus  protein sumoylation  methylated histone binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of sequence-specific DNA binding transcription factor activity  cellular response to X-ray  
Ontology : EGO-EBIDNA damage checkpoint  condensed chromosome kinetochore  chromosome, telomeric region  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription cofactor activity  p53 binding  DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  double-strand break repair via nonhomologous end joining  transcription, DNA-templated  cellular response to DNA damage stimulus  protein sumoylation  methylated histone binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of sequence-specific DNA binding transcription factor activity  cellular response to X-ray  
NDEx NetworkTP53BP1
Atlas of Cancer Signalling NetworkTP53BP1
Wikipedia pathwaysTP53BP1
Orthology - Evolution
OrthoDB7158
GeneTree (enSembl)ENSG00000067369
Phylogenetic Trees/Animal Genes : TreeFamTP53BP1
Homologs : HomoloGeneTP53BP1
Homology/Alignments : Family Browser (UCSC)TP53BP1
Gene fusions - Rearrangements
Fusion: TCGATP53BP1 15q15.3 DMXL2 15q21.2 BRCA
Fusion: TCGATP53BP1 15q15.3 STAU2 8q21.11 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerTP53BP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TP53BP1
dbVarTP53BP1
ClinVarTP53BP1
1000_GenomesTP53BP1 
Exome Variant ServerTP53BP1
ExAC (Exome Aggregation Consortium)TP53BP1 (select the gene name)
Genetic variants : HAPMAP7158
Genomic Variants (DGV)TP53BP1 [DGVbeta]
Mutations
ICGC Data PortalTP53BP1 
TCGA Data PortalTP53BP1 
Broad Tumor PortalTP53BP1
OASIS PortalTP53BP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTP53BP1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TP53BP1
DgiDB (Drug Gene Interaction Database)TP53BP1
DoCM (Curated mutations)TP53BP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TP53BP1 (select a term)
intoGenTP53BP1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:43699412-43785354  ENSG00000067369
CONAN: Copy Number AnalysisTP53BP1 
Mutations and Diseases : HGMDTP53BP1
OMIM605230   
MedgenTP53BP1
Genetic Testing Registry TP53BP1
NextProtQ12888 [Medical]
TSGene7158
GENETestsTP53BP1
Huge Navigator TP53BP1 [HugePedia]
snp3D : Map Gene to Disease7158
BioCentury BCIQTP53BP1
ClinGenTP53BP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7158
Chemical/Pharm GKB GenePA36680
Clinical trialTP53BP1
Miscellaneous
canSAR (ICR)TP53BP1 (select the gene name)
Probes
Litterature
PubMed200 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTP53BP1
EVEXTP53BP1
GoPubMedTP53BP1
iHOPTP53BP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:17:29 CEST 2016

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