mutLBSgeneDB

mutLBSgeneDB
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 DUS2
Gene summary
Basic gene Info.Gene symbolDUS2
Gene namedihydrouridine synthase 2
SynonymsDUS2L|SMM1|URLC8
CytomapUCSC genome browser: 16q22.1
Type of geneprotein-coding
RefGenesNM_001271762.1,
NM_001271763.1,NM_017803.4,
DescriptionSMM1 homologdihydrouridine synthase 2-like, SMM1 homologtRNA-dihydrouridine(20) synthase [NAD(P)+]-likeup-regulated in lung cancer protein 8
Modification date20141207
dbXrefs MIM : 609707
HGNC : HGNC
Ensembl : ENSG00000167264
HPRD : 08624
Vega : OTTHUMG00000137538
ProteinUniProt: Q9NX74
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DUS2
BioGPS: 54920
PathwayNCI Pathway Interaction Database: DUS2
KEGG: DUS2
REACTOME: DUS2
Pathway Commons: DUS2
ContextiHOP: DUS2
ligand binding site mutation search in PubMed: DUS2
UCL Cancer Institute: DUS2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006469negative regulation of protein kinase activity18096616
GO:0060548negative regulation of cell death18096616


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Ligand binding site mutations for DUS2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V20R21LLUAD1
G216G216VLUAD1
E43L44PSKCM1
H183V182ITHCA1
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 DUS2
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
E43L44P-1.1787514
H183V182I-1.1267951
V20R21L-0.72012311
G216G216V-0.59259412
(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 DUS2 from PDB

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Differential gene expression and gene-gene network for DUS2
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 DUS2 and the right PPI network was created from samples without mutations in the LBS of DUS2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for DUS2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for DUS2
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DUS2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FNRREDUCED FMN4xp7AV20 E43 H183 G216
FMNFLAVIN MONONUCLEOTIDE4wfsAV20 E43 H183 G216


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Conservation information for LBS of DUS2
Multiple alignments for Q9NX74 in multiple species
LBSAA sequence# speciesSpecies


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