mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NHEJ1
Gene summary
Basic gene Info.Gene symbolNHEJ1
Gene namenonhomologous end-joining factor 1
CytomapUCSC genome browser: 2q35
Type of geneprotein-coding
DescriptionXRCC4-like factornon-homologous end-joining factor 1protein cernunnos
Modification date20141221
dbXrefs MIM : 611290
Ensembl : ENSG00000187736
HPRD : 07784
Vega : OTTHUMG00000133127
ProteinUniProt: Q9H9Q4
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NHEJ1
BioGPS: 79840
PathwayNCI Pathway Interaction Database: NHEJ1
Pathway Commons: NHEJ1
ContextiHOP: NHEJ1
ligand binding site mutation search in PubMed: NHEJ1
UCL Cancer Institute: NHEJ1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0010212response to ionizing radiation16439205

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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 IDPDB titlePDB structure
2QM4Crystal structure of human XLF/Cernunnos, a non-homologous end-joining factor

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)
* Left PPI network was created from samples with mutations in the LBS of NHEJ1 and the right PPI network was created from samples without mutations in the LBS of NHEJ1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for NHEJ1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1969799Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation3Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for NHEJ1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NHEJ1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of NHEJ1
Multiple alignments for Q9H9Q4 in multiple species
LBSAA sequence# speciesSpecies
E60SQRAKELNKRL3Homo sapiens, Mus musculus, Rattus norvegicus
E60QSRAQDLNKRL1Danio rerio
H122FYWNFHCMLAS1Homo sapiens
H122FYWEFRCTTTP1Danio rerio
H122FSWHFHCIPAS1Mus musculus
H122FNWHFHCLPAS1Rattus norvegicus
I105VADALILRVRS1Homo sapiens
I105HGESLTVKLKS1Danio rerio
I105GEEGLILRVQS1Mus musculus
I105GEEVLILRVRS1Rattus norvegicus
R107DALILRVRSEL1Homo sapiens
R107ESLTVKLKSEL1Danio rerio
R107EGLILRVQSEL1Mus musculus
R107EVLILRVRSEL1Rattus norvegicus

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