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mutLBSgeneDB |
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| Gene summary for XRCC5 |
 Gene summary |
| Basic gene Info. | Gene symbol | XRCC5 |
| Gene name | X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) | |
| Synonyms | KARP-1|KARP1|KU80|KUB2|Ku86|NFIV | |
| Cytomap | UCSC genome browser: 2q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021141.3, | |
| Description | 86 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 2ATP-dependent DNA helicase II 80 kDa subunitCTC box-binding factor 85 kDa subunitCTC85CTCBFDNA repair protein XRCC5Ku autoantigen, 80kDaKu86 autoantigen related protein 1TLAAX-ray | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 194364 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000079246 | ||
| HPRD : 08935 | ||
| Vega : OTTHUMG00000133059 | ||
| Protein | UniProt: P13010 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_XRCC5 | |
| BioGPS: 7520 | ||
| Pathway | NCI Pathway Interaction Database: XRCC5 | |
| KEGG: XRCC5 | ||
| REACTOME: XRCC5 | ||
| Pathway Commons: XRCC5 | ||
| Context | iHOP: XRCC5 | |
| ligand binding site mutation search in PubMed: XRCC5 | ||
| UCL Cancer Institute: XRCC5 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for XRCC5 |
| 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 | W276 | T277A | BLCA | 1 | W276 | T277P | COAD | 1 | L85 | M84I | LUSC | 1 | Y397 | A396V | STAD | 1 | K7 | A9T | THCA | 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 XRCC5 |
| 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 | W276 | T277A | -1.4297744 | W276 | T277P | -1.2002988 | K7 | A9T | -1.161335 | Y397 | A396V | -0.94798802 | L85 | M84I | -0.91805931 |
| (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 XRCC5 from PDB |
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| Differential gene expression and gene-gene network for XRCC5 |
| 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 XRCC5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for XRCC5 |
| 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 XRCC5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1jey | B | K7 L85 Y397 | NUC | Nucleic Acids | 1jey | B | W276 |
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| Conservation information for LBS of XRCC5 |
| Multiple alignments for P13010 in multiple species |
| LBS | AA sequence | # species | Species | A401 | YDK-RANPQVG | 1 | Homo sapiens | A401 | SKD-KGVPVLL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A401 | WRNGQGNVVVG | 1 | Arabidopsis thaliana | A401 | YDK-RSNPQVG | 1 | Mus musculus | D398 | VRYAYDK-RAN | 1 | Homo sapiens | D398 | ARFVSKD-KGV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D398 | VRCVWRNGQGN | 1 | Arabidopsis thaliana | D398 | VRYAYDK-RSN | 1 | Mus musculus | E53 | ENK-DEIALVL | 1 | Homo sapiens | E53 | NRKTDVVGIVG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E53 | NKY-DEVGIVV | 1 | Arabidopsis thaliana | E53 | ESK-DEIALVL | 1 | Mus musculus | K125 | HETIGKKFEKR | 1 | Homo sapiens | K125 | RHCKKNKWKKK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K125 | KMYGNAHKGKK | 1 | Arabidopsis thaliana | K125 | RETIGKKFGKK | 1 | Mus musculus | K126 | ETIGKKFEKRH | 1 | Homo sapiens | K126 | HCKKNKWKKKM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K126 | MYGNAHKGKKR | 1 | Arabidopsis thaliana | K126 | ETIGKKFGKKH | 1 | Mus musculus | K265 | RIAAYKSILQE | 1 | Homo sapiens | K265 | QVERYPRTRLT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K265 | KVWVYKKVAEE | 1 | Arabidopsis thaliana | K265 | KIVAYKSIVQE | 1 | Mus musculus | K325 | IVPFSKVDEEQ | 1 | Homo sapiens | K325 | IVPISRSDEDV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K325 | VIPISPDQIET | 1 | Arabidopsis thaliana | K325 | IIPFSKVDEEQ | 1 | Mus musculus | K338 | YKSEGKCFSVL | 2 | Homo sapiens, Mus musculus | K338 | LDTI-PGYEIL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K338 | FKTD-KGMKLL | 1 | Arabidopsis thaliana | K399 | RYAYDK-RANP | 1 | Homo sapiens | K399 | RFVSKD-KGVP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K399 | RCVWRNGQGNV | 1 | Arabidopsis thaliana | K399 | RYAYDK-RSNP | 1 | Mus musculus | K7 | VRSGNKAAVVL | 1 | Homo sapiens | K7 | --MSDKECTVF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K7 | -MARNREGLVL | 1 | Arabidopsis thaliana | K7 | AWSGNKAAVVL | 1 | Mus musculus | L85 | HRHLMLPDFDL | 1 | Homo sapiens | L85 | LYPIQTALFSK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L85 | LRNIRV--VDE | 1 | Arabidopsis thaliana | L85 | CRHLMLPDFDL | 1 | Mus musculus | N402 | DK-RANPQVGV | 1 | Homo sapiens | N402 | KD-KGVPVLLV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N402 | RNGQGNVVVGV | 1 | Arabidopsis thaliana | N402 | DK-RSNPQVGV | 1 | Mus musculus | R242 | FKKIERHSIH- | 1 | Homo sapiens | R242 | -KPWVRKVRPV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R242 | LK--TRRVAPV | 1 | Arabidopsis thaliana | R242 | FKKIERRSMP- | 1 | Mus musculus | R400 | AYDK-RANPQV | 1 | Homo sapiens | R400 | VSKD-KGVPVL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R400 | VWRNGQGNVVV | 1 | Arabidopsis thaliana | R400 | AYDK-RSNPQV | 1 | Mus musculus | R431 | FMEDLRQYMFS | 2 | Homo sapiens, Mus musculus | R431 | FAEDVRPYSFS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R431 | FAEDVREFPFP | 1 | Arabidopsis thaliana | R486 | KIPNPRFQRLF | 1 | Homo sapiens | R486 | NTFSMIPHRLQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R486 | LTPNPVLQRFY | 1 | Arabidopsis thaliana | R486 | KIPNPEFQRLY | 1 | Mus musculus | T275 | ERVKKTWTVVD | 1 | Homo sapiens | T275 | TKPPTSSAFYE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T275 | ERLPTLKMYSD | 1 | Arabidopsis thaliana | T275 | EKFKKSWVVVD | 1 | Mus musculus | W276 | RVKKTWTVVD- | 1 | Homo sapiens | W276 | KPPTSSAFYEN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W276 | RLPTLKMYSDK | 1 | Arabidopsis thaliana | W276 | KFKKSWVVVD- | 1 | Mus musculus | Y397 | IVRYAYDK-RA | 1 | Homo sapiens | Y397 | LARFVSKD-KG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y397 | IVRCVWRNGQG | 1 | Arabidopsis thaliana | Y397 | IVRYAYDK-RS | 1 | Mus musculus |
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