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 ERCC1
Gene summary
Basic gene Info.Gene symbolERCC1
Gene nameexcision repair cross-complementation group 1
CytomapUCSC genome browser: 19q13.32
Type of geneprotein-coding
DescriptionDNA excision repair protein ERCC-1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Modification date20141222
dbXrefs MIM : 126380
Ensembl : ENSG00000012061
HPRD : 00533
Vega : OTTHUMG00000182121
ProteinUniProt: P07992
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ERCC1
BioGPS: 2067
PathwayNCI Pathway Interaction Database: ERCC1
Pathway Commons: ERCC1
ContextiHOP: ERCC1
ligand binding site mutation search in PubMed: ERCC1
UCL Cancer Institute: ERCC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000737DNA catabolic process, endonucleolytic7559382
GO:0006289nucleotide-excision repair3290851

Ligand binding site mutations for ERCC1
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 ERCC1
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 ERCC1 from PDB

Differential gene expression and gene-gene network for ERCC1
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 ERCC1 and the right PPI network was created from samples without mutations in the LBS of ERCC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ERCC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007131Carcinoma, Non-Small-Cell Lung116AlteredExpression, Biomarker, GeneticVariation
umls:C0038356Stomach Neoplasms8Biomarker, GeneticVariation
umls:C0027627Neoplasm Metastasis6AlteredExpression, Biomarker, GeneticVariation
umls:C0152013Adenocarcinoma of lung6Biomarker
umls:C0027651Neoplasms5AlteredExpression, Biomarker, GeneticVariation
umls:C0025202Melanoma4Biomarker, GeneticVariation
umls:C2931822Nasopharyngeal carcinoma4AlteredExpression, Biomarker
umls:C0039590Testicular Neoplasms3AlteredExpression, Biomarker
umls:C0007873Uterine Cervical Neoplasms2Biomarker
umls:C1853100Cerebrooculofacioskeletal Syndrome 41Biomarker, GeneticVariation
umls:C0031117Peripheral Nervous System Diseases1Biomarker, GeneticVariation
umls:C0311375Arsenic Poisoning1Biomarker
umls:C0027658Neoplasms, Germ Cell and Embryonal1Biomarker

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

Pharmacological information for ERCC1
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 ERCC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ERCC1
Multiple alignments for P07992 in multiple species
LBSAA sequence# speciesSpecies
D174LLVQVDVKDPQ3Homo sapiens, Mus musculus, Bos taurus
D174VLCHVDVEDTV1Arabidopsis thaliana
D174LLILVDVENHQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F140STCALFLSLRY3Homo sapiens, Mus musculus, Bos taurus
F140NSCALYLSLRY1Arabidopsis thaliana
F140GICSLFLSLKY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G109SPRQRGNPVLK2Homo sapiens, Mus musculus
G109SHRQKGNPLLK1Arabidopsis thaliana
G109NPRQKGNPLLP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G109SPRQRGNPVLR1Bos taurus
L141TCALFLSLRYH3Homo sapiens, Mus musculus, Bos taurus
L141SCALYLSLRYH1Arabidopsis thaliana
L141ICSLFLSLKYH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L148LRYHNLHPDYI3Homo sapiens, Mus musculus, Bos taurus
L148LRYHLLHPDYL1Arabidopsis thaliana
L148LKYHHLHPEYI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N110PRQRGNPVLKF2Homo sapiens, Mus musculus
N110HRQKGNPLLKH1Arabidopsis thaliana
N110PRQKGNPLLPH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N110PRQRGNPVLRF1Bos taurus
R106IIVSPRQRGNP3Homo sapiens, Mus musculus, Bos taurus
R106ILVSHRQKGNP1Arabidopsis thaliana
R106ILVNPRQKGNP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R108VSPRQRGNPVL3Homo sapiens, Mus musculus, Bos taurus
R108VSHRQKGNPLL1Arabidopsis thaliana
R108VNPRQKGNPLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R144LFLSLRYHNLH3Homo sapiens, Mus musculus, Bos taurus
R144LYLSLRYHLLH1Arabidopsis thaliana
R144LFLSLKYHHLH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S142CALFLSLRYHN3Homo sapiens, Mus musculus, Bos taurus
S142CALYLSLRYHL1Arabidopsis thaliana
S142CSLFLSLKYHH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y145FLSLRYHNLHP3Homo sapiens, Mus musculus, Bos taurus
Y145YLSLRYHLLHP1Arabidopsis thaliana
Y145FLSLKYHHLHP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y152NLHPDYIHGRL1Homo sapiens
Y152LLHPDYLYFRI1Arabidopsis thaliana
Y152HLHPEYIYSRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y152NLHPDYIHERL1Mus musculus
Y152NLHPDYIHQRL1Bos taurus

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