mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 QDPR
Gene summary
Basic gene Info.Gene symbolQDPR
Gene namequinoid dihydropteridine reductase
SynonymsDHPR|PKU2|SDR33C1
CytomapUCSC genome browser: 4p15.31
Type of geneprotein-coding
RefGenesNM_000320.2,
Description6,7-dihydropteridine reductaseHDHPRdihydropteridine reductaseshort chain dehydrogenase/reductase family 33C, member 1
Modification date20141207
dbXrefs MIM : 612676
HGNC : HGNC
Ensembl : ENSG00000151552
HPRD : 02025
Vega : OTTHUMG00000128537
ProteinUniProt: P09417
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_QDPR
BioGPS: 5860
PathwayNCI Pathway Interaction Database: QDPR
KEGG: QDPR
REACTOME: QDPR
Pathway Commons: QDPR
ContextiHOP: QDPR
ligand binding site mutation search in PubMed: QDPR
UCL Cancer Institute: QDPR
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


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Ligand binding site mutations for QDPR

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G89G89EKIRC1
V86L84FSKCM1
N190P188TUCEC1
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 QDPR
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
N190P188T-1.6290809
V86L84F-0.90734092
G89G89E-0.56950923
(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 QDPR from PDB

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Differential gene expression and gene-gene network for QDPR
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 QDPR and the right PPI network was created from samples without mutations in the LBS of QDPR. 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 QDPR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268465dhpr deficiency8Biomarker, GeneticVariation

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

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Pharmacological information for QDPR
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00157NADHSmall molecule
ExperimentalDB038142-(N-Morpholino)-Ethanesulfonic AcidSmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of QDPR
Multiple alignments for P09417 in multiple species
LBSAA sequence# speciesSpecies
A135GLLTLAGAKAA3Homo sapiens, Mus musculus, Rattus norvegicus
A135GLLTLAGARAA1Bos taurus
A21YGGRGALGSRC4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A87AILCVAGGWAG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D41WVASIDVVENE2Mus musculus, Rattus norvegicus
D41WVASVDVVENE1Homo sapiens
D41WVASIDVQENE1Bos taurus
G136LLTLAGAKAAL3Homo sapiens, Mus musculus, Rattus norvegicus
G136LLTLAGARAAL1Bos taurus
G17RVLVYGGRGAL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G20VYGGRGALGSR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G88ILCVAGGWAGG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G89LCVAGGWAGGN4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K154GYGMAKGAVHQ3Homo sapiens, Mus musculus, Rattus norvegicus
K154GYGMAKAAVHQ1Bos taurus
L185VLPVTLDTPMN3Homo sapiens, Mus musculus, Rattus norvegicus
L185LLPVTLDTPVN1Bos taurus
L22GGRGALGSRCV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N190LDTPMNRKSMP3Homo sapiens, Mus musculus, Rattus norvegicus
N190LDTPVNRKSMP1Bos taurus
P182AIAVLPVTLDT3Homo sapiens, Mus musculus, Rattus norvegicus
P182AVALLPVTLDT1Bos taurus
Q110DLMWKQSIWTS2Homo sapiens, Rattus norvegicus
Q110DLMWKQSVWTS1Bos taurus
Q110DMMWKQSMWTS1Mus musculus
R19LVYGGRGALGS4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T114KQSIWTSTISS2Homo sapiens, Rattus norvegicus
T114KQSVWTSTISS1Bos taurus
T114KQSMWTSTISS1Mus musculus
T184AVLPVTLDTPM3Homo sapiens, Mus musculus, Rattus norvegicus
T184ALLPVTLDTPV1Bos taurus
V183IAVLPVTLDTP3Homo sapiens, Mus musculus, Rattus norvegicus
V183VALLPVTLDTP1Bos taurus
V40WWVASIDVVEN2Mus musculus, Rattus norvegicus
V40WWVASVDVVEN1Homo sapiens
V40WWVASIDVQEN1Bos taurus
V54SASIIVKMTDS1Homo sapiens
V54SANVVVKMTDS1Bos taurus
V54SASVVVKMTDS1Mus musculus
V54SASVIVKMTDS1Rattus norvegicus
V86DAILCVAGGWA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y150PGMIGYGMAKG3Homo sapiens, Mus musculus, Rattus norvegicus
Y150PGMIGYGMAKA1Bos taurus
Y16RRVLVYGGRGA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus


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