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mutLBSgeneDB |
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| Gene summary for ERCC4 |
 Gene summary |
| Basic gene Info. | Gene symbol | ERCC4 |
| Gene name | excision repair cross-complementation group 4 | |
| Synonyms | ERCC11|FANCQ|RAD1|XPF | |
| Cytomap | UCSC genome browser: 16p13.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005236.2, | |
| Description | DNA 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 date | 20141219 | |
| dbXrefs | MIM : 133520 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000175595 | ||
| HPRD : 00594 | ||
| Vega : OTTHUMG00000048194 | ||
| Protein | UniProt: Q92889 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ERCC4 | |
| BioGPS: 2072 | ||
| Pathway | NCI Pathway Interaction Database: ERCC4 | |
| KEGG: ERCC4 | ||
| REACTOME: ERCC4 | ||
| Pathway Commons: ERCC4 | ||
| Context | iHOP: ERCC4 | |
| ligand binding site mutation search in PubMed: ERCC4 | ||
| UCL Cancer Institute: ERCC4 | ||
| 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 | 10413517 | GO:0006289 | nucleotide-excision repair | 10644440 | GO:0033683 | nucleotide-excision repair, DNA incision | 10413517 |
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| Ligand binding site mutations for ERCC4 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V870 | V870I | COAD | 1 | R864 | R864L | LUAD | 1 | S886 | T885M | 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 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 |
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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 | V870 | V870I | -0.99962836 | R864 | R864L | -0.25753142 | S886 | T885M | -0.027978957 |
| (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 |
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| 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) |
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| Phenotype information for ERCC4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268140 | Xeroderma Pigmentosum, Complementation Group F | 12 | Biomarker, GeneticVariation |
| umls:C0039590 | Testicular Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C1970416 | XFE Progeroid Syndrome | 1 | Biomarker, GeneticVariation |
| umls:C0311375 | Arsenic Poisoning | 1 | Biomarker |
| umls:C1449861 | Micronuclei, Chromosome-Defective | 1 | Biomarker |
| umls:C0027627 | Neoplasm Metastasis | 1 | Biomarker |
| umls:C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| umls:C2825055 | Recurrence | 1 | Biomarker |
| umls:C0005695 | Urinary Bladder Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 137879 | V870I | not provided | Germline | MedGen:CN169374 |
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| 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. |
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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 ERCC4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ERCC4 |
| Multiple alignments for Q92889 in multiple species |
| LBS | AA sequence | # species | Species | E875 | VKNIAELAALS | 1 | Homo sapiens | E875 | IKSFNKLQKLS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E875 | VKDIQEASETS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E875 | CKSLAELASLP | 1 | Arabidopsis thaliana | E875 | GGSLRQLLLRS | 1 | Drosophila melanogaster | E875 | VKNIAELATLS | 1 | Mus musculus | G889 | LTSILGNAANA | 1 | Homo sapiens | G889 | INELINDEDLT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G889 | WSELIG-PEAG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G889 | LAELMGGHKVA | 1 | Arabidopsis thaliana | G889 | LEELLQSQESA | 1 | Drosophila melanogaster | G889 | LTTILGHSGNA | 1 | Mus musculus | H868 | CRSLMH-HVKN | 1 | Homo sapiens | H868 | YFNLRK-KIKS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H868 | YRNVFYGGVKD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H868 | YRSIME-KCKS | 1 | Arabidopsis thaliana | H868 | IHGLLR-KGGS | 1 | Drosophila melanogaster | H868 | CRSLMN-QVKN | 1 | Mus musculus | H869 | SLMH-HVKNIA | 1 | Homo sapiens | H869 | NLRK-KIKSFN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H869 | NVFYGGVKDIQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H869 | SIME-KCKSLA | 1 | Arabidopsis thaliana | H869 | GLLR-KGGSLR | 1 | Drosophila melanogaster | H869 | SLMN-QVKNIA | 1 | Mus musculus | I887 | DELTSILGNAA | 1 | Homo sapiens | I887 | NEINELINDED | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I887 | RKWSELIG-PE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I887 | ETLAELMGGHK | 1 | Arabidopsis thaliana | I887 | KELEELLQSQE | 1 | Drosophila melanogaster | I887 | ERLTTILGHSG | 1 | Mus musculus | K861 | PGVNAKNCRSL | 2 | Homo sapiens, Mus musculus | K861 | PGVSKIDYFNL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K861 | PYITMKNYRNV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K861 | PGVSDANYRSI | 1 | Arabidopsis thaliana | K861 | PGVHTRNIHGL | 1 | Drosophila melanogaster | K871 | MH-HVKNIAEL | 1 | Homo sapiens | K871 | RK-KIKSFNKL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K871 | FYGGVKDIQEA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K871 | ME-KCKSLAEL | 1 | Arabidopsis thaliana | K871 | LR-KGGSLRQL | 1 | Drosophila melanogaster | K871 | MN-QVKNIAEL | 1 | Mus musculus | L888 | ELTSILGNAAN | 1 | Homo sapiens | L888 | EINELINDEDL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L888 | KWSELIG-PEA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L888 | TLAELMGGHKV | 1 | Arabidopsis thaliana | L888 | ELEELLQSQES | 1 | Drosophila melanogaster | L888 | RLTTILGHSGN | 1 | Mus musculus | N862 | GVNAKNCRSLM | 2 | Homo sapiens, Mus musculus | N862 | GVSKIDYFNLR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N862 | YITMKNYRNVF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N862 | GVSDANYRSIM | 1 | Arabidopsis thaliana | N862 | GVHTRNIHGLL | 1 | Drosophila melanogaster | N890 | TSILGNAANAK | 1 | Homo sapiens | N890 | NELINDEDLTD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N890 | SELIG-PEAGR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N890 | AELMGGHKVAK | 1 | Arabidopsis thaliana | N890 | EELLQSQESAK | 1 | Drosophila melanogaster | N890 | TTILGHSGNAK | 1 | Mus musculus | R864 | NAKNCRSLMH- | 1 | Homo sapiens | R864 | SKIDYFNLRK- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R864 | TMKNYRNVFYG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R864 | SDANYRSIME- | 1 | Arabidopsis thaliana | R864 | HTRNIHGLLR- | 1 | Drosophila melanogaster | R864 | NAKNCRSLMN- | 1 | Mus musculus | S865 | AKNCRSLMH-H | 1 | Homo sapiens | S865 | KIDYFNLRK-K | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S865 | MKNYRNVFYGG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S865 | DANYRSIME-K | 1 | Arabidopsis thaliana | S865 | TRNIHGLLR-K | 1 | Drosophila melanogaster | S865 | AKNCRSLMN-Q | 1 | Mus musculus | S886 | QDELTSILGNA | 1 | Homo sapiens | S886 | WNEINELINDE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S886 | ERKWSELIG-P | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S886 | VETLAELMGGH | 1 | Arabidopsis thaliana | S886 | QKELEELLQSQ | 1 | Drosophila melanogaster | S886 | LERLTTILGHS | 1 | Mus musculus | V870 | LMH-HVKNIAE | 1 | Homo sapiens | V870 | LRK-KIKSFNK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V870 | VFYGGVKDIQE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V870 | IME-KCKSLAE | 1 | Arabidopsis thaliana | V870 | LLR-KGGSLRQ | 1 | Drosophila melanogaster | V870 | LMN-QVKNIAE | 1 | Mus musculus |
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