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 ERCC4
Gene summary
Basic gene Info.Gene symbolERCC4
Gene nameexcision repair cross-complementation group 4
CytomapUCSC genome browser: 16p13.12
Type of geneprotein-coding
DescriptionDNA excision repair protein ERCC-4DNA repair endonuclease XPFDNA repair protein complementing XP-F cellsexcision repair cross-complementing rodent repair deficiency, complementation group 4excision-repair, complementing defective, in Chinese hamsterx
Modification date20141219
dbXrefs MIM : 133520
Ensembl : ENSG00000175595
HPRD : 00594
Vega : OTTHUMG00000048194
ProteinUniProt: Q92889
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ERCC4
BioGPS: 2072
PathwayNCI Pathway Interaction Database: ERCC4
Pathway Commons: ERCC4
ContextiHOP: ERCC4
ligand binding site mutation search in PubMed: ERCC4
UCL Cancer Institute: ERCC4
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, endonucleolytic10413517
GO:0006289nucleotide-excision repair10644440
GO:0033683nucleotide-excision repair, DNA incision10413517

Ligand binding site mutations for ERCC4

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 ERCC4
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 ERCC4 from PDB

Differential gene expression and gene-gene network for ERCC4
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 ERCC4 and the right PPI network was created from samples without mutations in the LBS of ERCC4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ERCC4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268140Xeroderma Pigmentosum, Complementation Group F12Biomarker, GeneticVariation
umls:C0039590Testicular Neoplasms2AlteredExpression, Biomarker
umls:C1970416XFE Progeroid Syndrome1Biomarker, GeneticVariation
umls:C0311375Arsenic Poisoning1Biomarker
umls:C1449861Micronuclei, Chromosome-Defective1Biomarker
umls:C0027627Neoplasm Metastasis1Biomarker
umls:C0027658Neoplasms, Germ Cell and Embryonal1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0005695Urinary Bladder Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
137879V870Inot providedGermlineMedGen:CN169374

Pharmacological information for ERCC4
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 ERCC4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ERCC4
Multiple alignments for Q92889 in multiple species
LBSAA sequence# speciesSpecies
E875VKNIAELAALS1Homo sapiens
E875IKSFNKLQKLS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E875VKDIQEASETS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E875CKSLAELASLP1Arabidopsis thaliana
E875GGSLRQLLLRS1Drosophila melanogaster
E875VKNIAELATLS1Mus musculus
G889LTSILGNAANA1Homo sapiens
G889INELINDEDLT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G889WSELIG-PEAG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G889LAELMGGHKVA1Arabidopsis thaliana
G889LEELLQSQESA1Drosophila melanogaster
G889LTTILGHSGNA1Mus musculus
H868CRSLMH-HVKN1Homo sapiens
H868YFNLRK-KIKS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H868YRNVFYGGVKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H868YRSIME-KCKS1Arabidopsis thaliana
H868IHGLLR-KGGS1Drosophila melanogaster
H868CRSLMN-QVKN1Mus musculus
H869SLMH-HVKNIA1Homo sapiens
H869NLRK-KIKSFN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H869NVFYGGVKDIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H869SIME-KCKSLA1Arabidopsis thaliana
H869GLLR-KGGSLR1Drosophila melanogaster
H869SLMN-QVKNIA1Mus musculus
I887DELTSILGNAA1Homo sapiens
I887NEINELINDED1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I887RKWSELIG-PE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I887ETLAELMGGHK1Arabidopsis thaliana
I887KELEELLQSQE1Drosophila melanogaster
I887ERLTTILGHSG1Mus musculus
K861PGVNAKNCRSL2Homo sapiens, Mus musculus
K861PGVSKIDYFNL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K861PYITMKNYRNV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K861PGVSDANYRSI1Arabidopsis thaliana
K861PGVHTRNIHGL1Drosophila melanogaster
K871MH-HVKNIAEL1Homo sapiens
K871RK-KIKSFNKL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K871FYGGVKDIQEA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K871ME-KCKSLAEL1Arabidopsis thaliana
K871LR-KGGSLRQL1Drosophila melanogaster
K871MN-QVKNIAEL1Mus musculus
L888ELTSILGNAAN1Homo sapiens
L888EINELINDEDL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L888KWSELIG-PEA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L888TLAELMGGHKV1Arabidopsis thaliana
L888ELEELLQSQES1Drosophila melanogaster
L888RLTTILGHSGN1Mus musculus
N862GVNAKNCRSLM2Homo sapiens, Mus musculus
N862GVSKIDYFNLR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N862YITMKNYRNVF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N862GVSDANYRSIM1Arabidopsis thaliana
N862GVHTRNIHGLL1Drosophila melanogaster
N890TSILGNAANAK1Homo sapiens
N890NELINDEDLTD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N890SELIG-PEAGR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N890AELMGGHKVAK1Arabidopsis thaliana
N890EELLQSQESAK1Drosophila melanogaster
N890TTILGHSGNAK1Mus musculus
R864NAKNCRSLMH-1Homo sapiens
R864SKIDYFNLRK-1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R864TMKNYRNVFYG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R864SDANYRSIME-1Arabidopsis thaliana
R864HTRNIHGLLR-1Drosophila melanogaster
R864NAKNCRSLMN-1Mus musculus
S865AKNCRSLMH-H1Homo sapiens
S865KIDYFNLRK-K1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S865MKNYRNVFYGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S865DANYRSIME-K1Arabidopsis thaliana
S865TRNIHGLLR-K1Drosophila melanogaster
S865AKNCRSLMN-Q1Mus musculus
S886QDELTSILGNA1Homo sapiens
S886WNEINELINDE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S886ERKWSELIG-P1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S886VETLAELMGGH1Arabidopsis thaliana
S886QKELEELLQSQ1Drosophila melanogaster
S886LERLTTILGHS1Mus musculus
V870LMH-HVKNIAE1Homo sapiens
V870LRK-KIKSFNK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V870VFYGGVKDIQE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V870IME-KCKSLAE1Arabidopsis thaliana
V870LLR-KGGSLRQ1Drosophila melanogaster
V870LMN-QVKNIAE1Mus musculus

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