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 XRCC1
Gene summary
Basic gene Info.Gene symbolXRCC1
Gene nameX-ray repair complementing defective repair in Chinese hamster cells 1
CytomapUCSC genome browser: 19q13.2
Type of geneprotein-coding
DescriptionDNA repair protein XRCC1X-ray repair cross-complementing protein 1
Modification date20141222
dbXrefs MIM : 194360
Ensembl : ENSG00000073050
HPRD : 01909
Vega : OTTHUMG00000182699
ProteinUniProt: P18887
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_XRCC1
BioGPS: 7515
PathwayNCI Pathway Interaction Database: XRCC1
Pathway Commons: XRCC1
ContextiHOP: XRCC1
ligand binding site mutation search in PubMed: XRCC1
UCL Cancer Institute: XRCC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for XRCC1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for XRCC1
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
(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 XRCC1 from PDB

Differential gene expression and gene-gene network for XRCC1
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 XRCC1 and the right PPI network was created from samples without mutations in the LBS of XRCC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for XRCC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0038356Stomach Neoplasms19Biomarker, GeneticVariation
umls:C1961102Precursor Cell Lymphoblastic Leukemia-Lymphoma9Biomarker, GeneticVariation
umls:C0279626Esophageal Squamous Cell Carcinoma9Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms4Biomarker, GeneticVariation
umls:C0028797Occupational Diseases3Biomarker, GeneticVariation
umls:C0025500Mesothelioma2Biomarker, GeneticVariation
umls:C0038362Stomatitis2Biomarker, GeneticVariation
umls:C1449861Micronuclei, Chromosome-Defective2Biomarker

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

Pharmacological information for XRCC1
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 XRCC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of XRCC1
Multiple alignments for P18887 in multiple species
LBSAA sequence# speciesSpecies
E33Homo sapiens, Mus musculus, Rattus norvegicus
E81GATAGEQDYEV2Mus musculus, Rattus norvegicus
E81G--AGEQDYEV1Homo sapiens
K129RWDRVKIVCSQ3Homo sapiens, Mus musculus, Rattus norvegicus
P23Homo sapiens, Mus musculus, Rattus norvegicus
R7PEISLRHVVSC2Mus musculus, Rattus norvegicus
R7PEIRLRHVVSC1Homo sapiens
S44GEKTISVVLQL3Homo sapiens, Mus musculus, Rattus norvegicus

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