|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for XRCC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | XRCC1 |
| Gene name | X-ray repair complementing defective repair in Chinese hamster cells 1 | |
| Synonyms | RCC | |
| Cytomap | UCSC genome browser: 19q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006297.2, | |
| Description | DNA repair protein XRCC1X-ray repair cross-complementing protein 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 194360 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000073050 | ||
| HPRD : 01909 | ||
| Vega : OTTHUMG00000182699 | ||
| Protein | UniProt: P18887 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_XRCC1 | |
| BioGPS: 7515 | ||
| Pathway | NCI Pathway Interaction Database: XRCC1 | |
| KEGG: XRCC1 | ||
| REACTOME: XRCC1 | ||
| Pathway Commons: XRCC1 | ||
| Context | iHOP: XRCC1 | |
| ligand binding site mutation search in PubMed: XRCC1 | ||
| UCL Cancer Institute: XRCC1 | ||
| 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 |
| Top |
| 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 |
| LBS | AAchange of nsSNV | Cancer type | # samples | E81 | E81D | LUSC | 1 | K129 | R127L | SKCM | 1 | K129 | K129E | 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. |
| Top |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | K129 | R127L | -0.93803962 | E81 | E81D | -0.40399581 | K129 | K129E | -0.35989414 |
| (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 |
| Top |
| 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) |
| Top |
| Top |
| Phenotype information for XRCC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0038356 | Stomach Neoplasms | 19 | Biomarker, GeneticVariation |
| umls:C1961102 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | 9 | Biomarker, GeneticVariation |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 9 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 4 | Biomarker, GeneticVariation |
| umls:C0028797 | Occupational Diseases | 3 | Biomarker, GeneticVariation |
| umls:C0041834 | Erythema | 3 | Biomarker |
| umls:C0025500 | Mesothelioma | 2 | Biomarker, GeneticVariation |
| umls:C0038362 | Stomatitis | 2 | Biomarker, GeneticVariation |
| umls:C1449861 | Micronuclei, Chromosome-Defective | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of XRCC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CO3 | CARBONATE | 3lqc | A | E81 K129 |
| Top |
| Conservation information for LBS of XRCC1 |
| Multiple alignments for P18887 in multiple species |
| LBS | AA sequence | # species | Species | E3 | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E81 | GATAGEQDYEV | 2 | Mus musculus, Rattus norvegicus | E81 | G--AGEQDYEV | 1 | Homo sapiens | K129 | RWDRVKIVCSQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P2 | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R7 | PEISLRHVVSC | 2 | Mus musculus, Rattus norvegicus | R7 | PEIRLRHVVSC | 1 | Homo sapiens | S44 | GEKTISVVLQL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |