mutLBSgeneDB |
Gene summary for TP53BP1 |
Gene summary |
Basic gene Info. | Gene symbol | TP53BP1 |
Gene name | tumor protein p53 binding protein 1 | |
Synonyms | 53BP1|p202 | |
Cytomap | UCSC genome browser: 15q15-q21 | |
Type of gene | protein-coding | |
RefGenes | NM_001141979.1, NM_001141980.1,NM_005657.2, | |
Description | p53-binding protein 1p53BP1tumor protein 53-binding protein, 1tumor protein p53-binding protein, 1tumor suppressor p53-binding protein 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 605230 | |
HGNC : HGNC | ||
Ensembl : ENSG00000067369 | ||
HPRD : 05569 | ||
Vega : OTTHUMG00000059757 | ||
Protein | UniProt: Q12888 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TP53BP1 | |
BioGPS: 7158 | ||
Pathway | NCI Pathway Interaction Database: TP53BP1 | |
KEGG: TP53BP1 | ||
REACTOME: TP53BP1 | ||
Pathway Commons: TP53BP1 | ||
Context | iHOP: TP53BP1 | |
ligand binding site mutation search in PubMed: TP53BP1 | ||
UCL Cancer Institute: TP53BP1 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0006974 | cellular response to DNA damage stimulus | 17500065 |
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Ligand binding site mutations for TP53BP1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | K1514 | Y1515S | BLCA | 1 | K1814 | Y1815C | BRCA | 1 | Y1500,Y1502 | F1501V | COAD | 1 | R1811 | R1811Q | COAD | 1 | K1582,M1584 | R1583L | COAD | 1 | L1540 | L1540Q | LUAD | 1 | K1773 | F1771L | LUAD | 1 | S1503 | G1504R | STAD | 1 | G5 | G5E | UCEC | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | L1540 | L1540Q | -1.5212522 | R1811 | R1811Q | -0.9816251 | Y1500 | F1501V | -0.70508638 | Y1502 | F1501V | -0.70508638 | K1814 | Y1815C | -0.66527398 | K1582 | R1583L | -0.6152918 | M1584 | R1583L | -0.6152918 | S1503 | G1504R | -0.56567382 | K1773 | F1771L | -0.56293434 | K1514 | Y1515S | -0.19861096 | G5 | G5E | -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) |
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Phenotype information for TP53BP1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of TP53BP1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (TYR,ILE,SER,PRO,LEU,LYS) | 4cri | A | K1514 | UNX | UNKNOWN ATOM OR LIGAND | 4rg2 | A | K1582 M1584 | III | Peptide ligand (SEP,GLN,GLU,TYR) | 5ecg | C | K1773 R1811 K1814 | III | Peptide ligand (SEP,GLN,GLU,TYR) | 5ecg | D | K1773 R1811 K1814 | UNX | UNKNOWN ATOM OR LIGAND | 4rg2 | A | L1540 | 3OO | 3-BROMO-N-[3-(TERT-BUTYLAMINO)PROPYL]BENZAMIDE | 4rg2 | B | M1584 | UNX | UNKNOWN ATOM OR LIGAND | 4rg2 | B | S1503 M1584 | III | Peptide ligand (ARG,LYS) | 2ig0 | A | Y1500 Y1502 | III | Peptide ligand (ILE,TYR,ILE,SER,PRO,LEU,LYS) | 4cri | A | Y1500 Y1502 | III | Peptide ligand (TYR,ILE,SER,PRO,LEU,LYS) | 4cri | B | Y1500 Y1502 | III | Peptide ligand (SER,THR,SER,ARG,HIS,LYS,LYS,LEU,MET,PHE,LYS,THR) | 2mwp | A | Y1500 Y1502 | III | Peptide ligand (GLY,ALA,LYS,ARG,HIS,ARG,LYS,VAL,LEU,ARG,ASP,ASN,ILE,GLN) | 2lvm | A | Y1500 Y1502 M1584 | III | Peptide ligand (ARG,ALA,HIS,SER,SER,HIS,LEU,LYS,SER,LYS,LYS,GLY,GLN,SER,THR) | 2mwo | A | Y1500 Y1502 M1584 | III | Peptide ligand (SER,ARG,HIS,ALY,MLY,LEU,MET,PHE) | 4x34 | B | Y1500 Y1502 M1584 | LYS | LYSINE | 3lgf | A | Y1502 | LYS | LYSINE | 3lgl | A | Y1502 | LYS | LYSINE | 3lh0 | A | Y1502 | III | Peptide ligand (THR,SER,ARG,HIS,ALY,MLY,LEU,MET,PHE,LYS) | 4x34 | A | Y1502 | 3OO | 3-BROMO-N-[3-(TERT-BUTYLAMINO)PROPYL]BENZAMIDE | 4rg2 | A | Y1502 M1584 | UNX | UNKNOWN ATOM OR LIGAND | 4rg2 | A | Y1502 S1503 M1584 |
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Conservation information for LBS of TP53BP1 |
Multiple alignments for Q12888 in multiple species |
LBS | AA sequence | # species | Species |
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