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mutLBSgeneDB |
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| Gene summary for NHEJ1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NHEJ1 |
| Gene name | nonhomologous end-joining factor 1 | |
| Synonyms | XLF | |
| Cytomap | UCSC genome browser: 2q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024782.2, | |
| Description | XRCC4-like factornon-homologous end-joining factor 1protein cernunnos | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 611290 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000187736 | ||
| HPRD : 07784 | ||
| Vega : OTTHUMG00000133127 | ||
| Protein | UniProt: Q9H9Q4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NHEJ1 | |
| BioGPS: 79840 | ||
| Pathway | NCI Pathway Interaction Database: NHEJ1 | |
| KEGG: NHEJ1 | ||
| REACTOME: NHEJ1 | ||
| Pathway Commons: NHEJ1 | ||
| Context | iHOP: NHEJ1 | |
| ligand binding site mutation search in PubMed: NHEJ1 | ||
| UCL Cancer Institute: NHEJ1 | ||
| 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:0010212 | response to ionizing radiation | 16439205 |
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| Ligand binding site mutations for NHEJ1 |
| 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 | R107 | R109Q | UCEC | 3 |
| 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 NHEJ1 |
| 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 | R107 | R109Q | -0.83383597 |
| (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 NHEJ1 from PDB |
| PDB ID | PDB title | PDB structure | 2QM4 | Crystal structure of human XLF/Cernunnos, a non-homologous end-joining factor |  |
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| Differential gene expression and gene-gene network for NHEJ1 |
| 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 NHEJ1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1969799 | Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation | 3 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NHEJ1 |
| 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 NHEJ1 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 NHEJ1 |
| Multiple alignments for Q9H9Q4 in multiple species |
| LBS | AA sequence | # species | Species | E60 | SQRAKELNKRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E60 | QSRAQDLNKRL | 1 | Danio rerio | H122 | FYWNFHCMLAS | 1 | Homo sapiens | H122 | FYWEFRCTTTP | 1 | Danio rerio | H122 | FSWHFHCIPAS | 1 | Mus musculus | H122 | FNWHFHCLPAS | 1 | Rattus norvegicus | I105 | VADALILRVRS | 1 | Homo sapiens | I105 | HGESLTVKLKS | 1 | Danio rerio | I105 | GEEGLILRVQS | 1 | Mus musculus | I105 | GEEVLILRVRS | 1 | Rattus norvegicus | R107 | DALILRVRSEL | 1 | Homo sapiens | R107 | ESLTVKLKSEL | 1 | Danio rerio | R107 | EGLILRVQSEL | 1 | Mus musculus | R107 | EVLILRVRSEL | 1 | Rattus norvegicus |
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