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mutLBSgeneDB |
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| Gene summary for ERCC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ERCC1 |
| Gene name | excision repair cross-complementation group 1 | |
| Synonyms | COFS4|RAD10|UV20 | |
| Cytomap | UCSC genome browser: 19q13.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001166049.1, NM_001983.3,NM_202001.2, | |
| Description | DNA excision repair protein ERCC-1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 126380 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000012061 | ||
| HPRD : 00533 | ||
| Vega : OTTHUMG00000182121 | ||
| Protein | UniProt: P07992 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ERCC1 | |
| BioGPS: 2067 | ||
| Pathway | NCI Pathway Interaction Database: ERCC1 | |
| KEGG: ERCC1 | ||
| REACTOME: ERCC1 | ||
| Pathway Commons: ERCC1 | ||
| Context | iHOP: ERCC1 | |
| ligand binding site mutation search in PubMed: ERCC1 | ||
| UCL Cancer Institute: ERCC1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000737 | DNA catabolic process, endonucleolytic | 7559382 | GO:0006289 | nucleotide-excision repair | 3290851 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F140 | F140I | UCEC | 1 | N110 | V112I | 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 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 |
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| 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 | N110 | V112I | -1.0444317 | F140 | F140I | -0.20196871 |
| (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 |
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| 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) |
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| Phenotype information for ERCC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 116 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0038356 | Stomach Neoplasms | 8 | Biomarker, GeneticVariation |
| umls:C0027627 | Neoplasm Metastasis | 6 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0152013 | Adenocarcinoma of lung | 6 | Biomarker |
| umls:C0027651 | Neoplasms | 5 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0025202 | Melanoma | 4 | Biomarker, GeneticVariation |
| umls:C2931822 | Nasopharyngeal carcinoma | 4 | AlteredExpression, Biomarker |
| umls:C0039590 | Testicular Neoplasms | 3 | AlteredExpression, Biomarker |
| umls:C0007873 | Uterine Cervical Neoplasms | 2 | Biomarker |
| umls:C1853100 | Cerebrooculofacioskeletal Syndrome 4 | 1 | Biomarker, GeneticVariation |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker, GeneticVariation |
| umls:C0311375 | Arsenic Poisoning | 1 | Biomarker |
| umls:C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ERCC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LYS,ILE,ILE,ASP,THR,GLY,GLY,GLY,PHE,ILE,LEU) | 2jnw | A | N110 F140 |
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| Conservation information for LBS of ERCC1 |
| Multiple alignments for P07992 in multiple species |
| LBS | AA sequence | # species | Species | D174 | LLVQVDVKDPQ | 3 | Homo sapiens, Mus musculus, Bos taurus | D174 | VLCHVDVEDTV | 1 | Arabidopsis thaliana | D174 | LLILVDVENHQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F140 | STCALFLSLRY | 3 | Homo sapiens, Mus musculus, Bos taurus | F140 | NSCALYLSLRY | 1 | Arabidopsis thaliana | F140 | GICSLFLSLKY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G109 | SPRQRGNPVLK | 2 | Homo sapiens, Mus musculus | G109 | SHRQKGNPLLK | 1 | Arabidopsis thaliana | G109 | NPRQKGNPLLP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G109 | SPRQRGNPVLR | 1 | Bos taurus | L141 | TCALFLSLRYH | 3 | Homo sapiens, Mus musculus, Bos taurus | L141 | SCALYLSLRYH | 1 | Arabidopsis thaliana | L141 | ICSLFLSLKYH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L148 | LRYHNLHPDYI | 3 | Homo sapiens, Mus musculus, Bos taurus | L148 | LRYHLLHPDYL | 1 | Arabidopsis thaliana | L148 | LKYHHLHPEYI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N110 | PRQRGNPVLKF | 2 | Homo sapiens, Mus musculus | N110 | HRQKGNPLLKH | 1 | Arabidopsis thaliana | N110 | PRQKGNPLLPH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N110 | PRQRGNPVLRF | 1 | Bos taurus | R106 | IIVSPRQRGNP | 3 | Homo sapiens, Mus musculus, Bos taurus | R106 | ILVSHRQKGNP | 1 | Arabidopsis thaliana | R106 | ILVNPRQKGNP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R108 | VSPRQRGNPVL | 3 | Homo sapiens, Mus musculus, Bos taurus | R108 | VSHRQKGNPLL | 1 | Arabidopsis thaliana | R108 | VNPRQKGNPLL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R144 | LFLSLRYHNLH | 3 | Homo sapiens, Mus musculus, Bos taurus | R144 | LYLSLRYHLLH | 1 | Arabidopsis thaliana | R144 | LFLSLKYHHLH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S142 | CALFLSLRYHN | 3 | Homo sapiens, Mus musculus, Bos taurus | S142 | CALYLSLRYHL | 1 | Arabidopsis thaliana | S142 | CSLFLSLKYHH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y145 | FLSLRYHNLHP | 3 | Homo sapiens, Mus musculus, Bos taurus | Y145 | YLSLRYHLLHP | 1 | Arabidopsis thaliana | Y145 | FLSLKYHHLHP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y152 | NLHPDYIHGRL | 1 | Homo sapiens | Y152 | LLHPDYLYFRI | 1 | Arabidopsis thaliana | Y152 | HLHPEYIYSRI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y152 | NLHPDYIHERL | 1 | Mus musculus | Y152 | NLHPDYIHQRL | 1 | Bos taurus |
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