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mutLBSgeneDB |
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| Gene summary for XRCC6 |
 Gene summary |
| Basic gene Info. | Gene symbol | XRCC6 |
| Gene name | X-ray repair complementing defective repair in Chinese hamster cells 6 | |
| Synonyms | CTC75|CTCBF|G22P1|KU70|ML8|TLAA | |
| Cytomap | UCSC genome browser: 22q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001288976.1, NM_001288977.1,NM_001288978.1,NM_001469.4, | |
| Description | 5'-dRP lyase Ku705'-deoxyribose-5-phosphate lyase Ku7070 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 1ATP-dependent DNA helicase II 70 kDa subunitATP-dependent DNA helicase II, 70 kDa subunitCTC box binding factor 75 kDa subunitCT | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 152690 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196419 | ||
| HPRD : 01071 | ||
| Vega : OTTHUMG00000151190 | ||
| Protein | UniProt: P12956 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_XRCC6 | |
| BioGPS: 2547 | ||
| Pathway | NCI Pathway Interaction Database: XRCC6 | |
| KEGG: XRCC6 | ||
| REACTOME: XRCC6 | ||
| Pathway Commons: XRCC6 | ||
| Context | iHOP: XRCC6 | |
| ligand binding site mutation search in PubMed: XRCC6 | ||
| UCL Cancer Institute: XRCC6 | ||
| 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 | GO:0045893 | positive regulation of transcription, DNA-templated | 12145306 |
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| Ligand binding site mutations for XRCC6 |
| 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 | P285 | P284S | BLCA | 1 | K282 | K282N | COAD | 1 | Q278,K282 | A280S | COAD | 1 | R403 | R403S | LUAD | 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 XRCC6 |
| 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 | R403 | R403S | -1.336139 | P285 | P284S | -1.2593214 | Q278 | A280S | -0.99241652 | K282 | A280S | -0.99241652 | K282 | K282N | -0.69954077 |
| (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 XRCC6 from PDB |
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| Differential gene expression and gene-gene network for XRCC6 |
| 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 XRCC6 |
| 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 XRCC6 |
| 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 XRCC6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1jey | A | K282 P285 R403 | NUC | Nucleic Acids | 1jey | A | Q278 |
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| Conservation information for LBS of XRCC6 |
| Multiple alignments for P12956 in multiple species |
| LBS | AA sequence | # species | Species | A255 | ETRKRALSRLK | 1 | Homo sapiens | A255 | KEVKRIMFQCP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A255 | KEIKRIKFRCP | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | A255 | DFLRRCLGHFS | 1 | Drosophila melanogaster | A255 | QKPKRAHFHLK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A255 | ETKKRVLSRLK | 1 | Mus musculus | A255 | VLAKRIAKRIT | 1 | Arabidopsis thaliana | A255 | MMKKRKVKTLA | 1 | Oryza sativa subsp. japonica | K282 | VQKALKPPPIK | 1 | Homo sapiens | K282 | YTHEKAGVRYK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K282 | VSHEIPGSKYK | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | K282 | FQRRAYPRKVQ | 1 | Drosophila melanogaster | K282 | LKRLESAKTNW | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K282 | VQKANKPFPVR | 1 | Mus musculus | K282 | LRPAIPGSITW | 1 | Arabidopsis thaliana | K282 | IRSTTPGAITW | 1 | Oryza sativa subsp. japonica | K338 | ETEELKRFDDP | 1 | Homo sapiens | K338 | QDQIVMEAYTQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K338 | ENLKIQSGYSE | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | K338 | QLNRVRNLHKP | 1 | Drosophila melanogaster | K338 | ELNKVRSFEPP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K338 | ETEELKRFDEP | 1 | Mus musculus | K338 | ELSQVKRISTG | 1 | Arabidopsis thaliana | K338 | ELSDVKRVSSH | 1 | Oryza sativa subsp. japonica | L256 | TRKRALSRLKL | 1 | Homo sapiens | L256 | EVKRIMFQCPL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L256 | EIKRIKFRCPL | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | L256 | FLRRCLGHFSF | 1 | Drosophila melanogaster | L256 | KPKRAHFHLKM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L256 | TKKRVLSRLKF | 1 | Mus musculus | L256 | LAKRIAKRITF | 1 | Arabidopsis thaliana | L256 | MKKRKVKTLAF | 1 | Oryza sativa subsp. japonica | P285 | ALKPPPIKLYR | 1 | Homo sapiens | P285 | EKAGVRYKLVY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P285 | EIPGSKYKLVY | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | P285 | RAYPRKVQILR | 1 | Drosophila melanogaster | P285 | LESAKTNWVYA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P285 | ANKPFPVRLYR | 1 | Mus musculus | P285 | AIPGSITWLDS | 1 | Arabidopsis thaliana | P285 | TTPGAITWLDS | 1 | Oryza sativa subsp. japonica | Q278 | IYNLVQKALKP | 1 | Homo sapiens | Q278 | GYTMYTHEKAG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q278 | GYTIVSHEIPG | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | Q278 | YYNYFQRRAYP | 1 | Drosophila melanogaster | Q278 | AFILLKRLESA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q278 | IYNLVQKANKP | 1 | Mus musculus | Q278 | GYALLRPAIPG | 1 | Arabidopsis thaliana | Q278 | TYALIRSTTPG | 1 | Oryza sativa subsp. japonica | R254 | KETRKRALSRL | 1 | Homo sapiens | R254 | KKEVKRIMFQC | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R254 | TKEIKRIKFRC | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | R254 | QDFLRRCLGHF | 1 | Drosophila melanogaster | R254 | LQKPKRAHFHL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R254 | KETKKRVLSRL | 1 | Mus musculus | R254 | RVLAKRIAKRI | 1 | Arabidopsis thaliana | R254 | RMMKKRKVKTL | 1 | Oryza sativa subsp. japonica | R403 | CRYTPRRNIPP | 1 | Homo sapiens | R403 | LWGKLKSNSHP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R403 | VWGKLRPNSPP | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | R403 | CLFMCKRKSIP | 1 | Drosophila melanogaster | R403 | AWFVSRPNANP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R403 | CRYTPRKNVSP | 1 | Mus musculus | R403 | AFYGGTTP--P | 1 | Arabidopsis thaliana | R403 | AFYGNPTR--P | 1 | Oryza sativa subsp. japonica | R404 | RYTPRRNIPPY | 1 | Homo sapiens | R404 | WGKLKSNSHPS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R404 | WGKLRPNSPPS | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | R404 | LFMCKRKSIPR | 1 | Drosophila melanogaster | R404 | WFVSRPNANPC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R404 | RYTPRKNVSPY | 1 | Mus musculus | R404 | FYGGTTP--PR | 1 | Arabidopsis thaliana | R404 | FYGNPTR--PQ | 1 | Oryza sativa subsp. japonica | R80 | IISSDRDLLAV | 2 | Homo sapiens, Mus musculus | R80 | VITRPGTAIGC | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R80 | VVVMPSTAVGC | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | R80 | LLVNDKDLIGL | 1 | Drosophila melanogaster | R80 | VITNPSDIMGV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R80 | IINRSNDEIAI | 1 | Arabidopsis thaliana | R80 | IIGRSYDEVAI | 1 | Oryza sativa subsp. japonica | S257 | RKRALSRLKLK | 1 | Homo sapiens | S257 | VKRIMFQCPLI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S257 | IKRIKFRCPLM | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | S257 | LRRCLGHFSFY | 1 | Drosophila melanogaster | S257 | PKRAHFHLKMD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S257 | KKRVLSRLKFK | 1 | Mus musculus | S257 | AKRIAKRITFV | 1 | Arabidopsis thaliana | S257 | KKRKVKTLAFA | 1 | Oryza sativa subsp. japonica | S78 | SKIISSDRDLL | 2 | Homo sapiens, Mus musculus | S78 | QLVITRPGTAI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S78 | QLVVVMPSTAV | 1 | Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37) | S78 | SGLLVNDKDLI | 1 | Drosophila melanogaster | S78 | QRVITNPSDIM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S78 | AHIINRSNDEI | 1 | Arabidopsis thaliana | S78 | TQIIGRSYDEV | 1 | Oryza sativa subsp. japonica |
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