mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for TP53BP1
Gene summary
Basic gene Info.Gene symbolTP53BP1
Gene nametumor protein p53 binding protein 1
Synonyms53BP1|p202
CytomapUCSC genome browser: 15q15-q21
Type of geneprotein-coding
RefGenesNM_001141979.1,
NM_001141980.1,NM_005657.2,
Descriptionp53-binding protein 1p53BP1tumor protein 53-binding protein, 1tumor protein p53-binding protein, 1tumor suppressor p53-binding protein 1
Modification date20141207
dbXrefs MIM : 605230
HGNC : HGNC
Ensembl : ENSG00000067369
HPRD : 05569
Vega : OTTHUMG00000059757
ProteinUniProt: Q12888
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TP53BP1
BioGPS: 7158
PathwayNCI Pathway Interaction Database: TP53BP1
KEGG: TP53BP1
REACTOME: TP53BP1
Pathway Commons: TP53BP1
ContextiHOP: TP53BP1
ligand binding site mutation search in PubMed: TP53BP1
UCL Cancer Institute: TP53BP1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006974cellular response to DNA damage stimulus17500065


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Ligand binding site mutations for TP53BP1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K1514Y1515SBLCA1
K1814Y1815CBRCA1
Y1500,Y1502F1501VCOAD1
R1811R1811QCOAD1
K1582,M1584R1583LCOAD1
L1540L1540QLUAD1
K1773F1771LLUAD1
S1503G1504RSTAD1
G5G5EUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for TP53BP1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
L1540L1540Q-1.5212522
R1811R1811Q-0.9816251
Y1500F1501V-0.70508638
Y1502F1501V-0.70508638
K1814Y1815C-0.66527398
K1582R1583L-0.6152918
M1584R1583L-0.6152918
S1503G1504R-0.56567382
K1773F1771L-0.56293434
K1514Y1515S-0.19861096
G5G5E-0.085309772
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for TP53BP1 from PDB

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Differential gene expression and gene-gene network for TP53BP1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of TP53BP1 and the right PPI network was created from samples without mutations in the LBS of TP53BP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for TP53BP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for TP53BP1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TP53BP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (TYR,ILE,SER,PRO,LEU,LYS)4criAK1514
UNXUNKNOWN ATOM OR LIGAND4rg2AK1582 M1584
IIIPeptide ligand (SEP,GLN,GLU,TYR)5ecgCK1773 R1811 K1814
IIIPeptide ligand (SEP,GLN,GLU,TYR)5ecgDK1773 R1811 K1814
UNXUNKNOWN ATOM OR LIGAND4rg2AL1540
3OO3-BROMO-N-[3-(TERT-BUTYLAMINO)PROPYL]BENZAMIDE4rg2BM1584
UNXUNKNOWN ATOM OR LIGAND4rg2BS1503 M1584
IIIPeptide ligand (ARG,LYS)2ig0AY1500 Y1502
IIIPeptide ligand (ILE,TYR,ILE,SER,PRO,LEU,LYS)4criAY1500 Y1502
IIIPeptide ligand (TYR,ILE,SER,PRO,LEU,LYS)4criBY1500 Y1502
IIIPeptide ligand (SER,THR,SER,ARG,HIS,LYS,LYS,LEU,MET,PHE,LYS,THR)2mwpAY1500 Y1502
IIIPeptide ligand (GLY,ALA,LYS,ARG,HIS,ARG,LYS,VAL,LEU,ARG,ASP,ASN,ILE,GLN)2lvmAY1500 Y1502 M1584
IIIPeptide ligand (ARG,ALA,HIS,SER,SER,HIS,LEU,LYS,SER,LYS,LYS,GLY,GLN,SER,THR)2mwoAY1500 Y1502 M1584
IIIPeptide ligand (SER,ARG,HIS,ALY,MLY,LEU,MET,PHE)4x34BY1500 Y1502 M1584
LYSLYSINE3lgfAY1502
LYSLYSINE3lglAY1502
LYSLYSINE3lh0AY1502
IIIPeptide ligand (THR,SER,ARG,HIS,ALY,MLY,LEU,MET,PHE,LYS)4x34AY1502
3OO3-BROMO-N-[3-(TERT-BUTYLAMINO)PROPYL]BENZAMIDE4rg2AY1502 M1584
UNXUNKNOWN ATOM OR LIGAND4rg2AY1502 S1503 M1584


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Conservation information for LBS of TP53BP1
Multiple alignments for Q12888 in multiple species
LBSAA sequence# speciesSpecies


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