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 GRHPR
Gene summary
Basic gene Info.Gene symbolGRHPR
Gene nameglyoxylate reductase/hydroxypyruvate reductase
SynonymsGLXR|GLYD|PH2
CytomapUCSC genome browser: 9q12
Type of geneprotein-coding
RefGenesNM_012203.1,
Descriptionglycerate-2-dehydrogenase
Modification date20141219
dbXrefs MIM : 604296
HGNC : HGNC
Ensembl : ENSG00000137106
HPRD : 05052
Vega : OTTHUMG00000019914
ProteinUniProt: Q9UBQ7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GRHPR
BioGPS: 9380
PathwayNCI Pathway Interaction Database: GRHPR
KEGG: GRHPR
REACTOME: GRHPR
Pathway Commons: GRHPR
ContextiHOP: GRHPR
ligand binding site mutation search in PubMed: GRHPR
UCL Cancer Institute: GRHPR
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:0051259protein oligomerization16756993
GO:0055114oxidation-reduction process10484776


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Ligand binding site mutations for GRHPR
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
R188E190QBLCA1
R245D247YCOAD1
S82M81VCOAD1
R245D247ELUAD1
L107D105HSKCM1
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 GRHPR
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
R245D247Y-0.86690423
R245D247E-0.77772446
S82M81V-0.73138155
L107D105H-0.50056868
R188E190Q-0.47454191
(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 GRHPR from PDB

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Differential gene expression and gene-gene network for GRHPR
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 GRHPR and the right PPI network was created from samples without mutations in the LBS of GRHPR. 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 GRHPR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268165Primary hyperoxaluria type 28Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for GRHPR
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 GRHPR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NDPNADPH2gcgAR188 R245
NDPNADPH2gcgBR188 R245
NDPNADPH2gcgCR188 R245
NDPNADPH2gcgDR188 R245
DGYD-GLYCERIC ACID2gcgAS82 L107 R245
DGYD-GLYCERIC ACID2gcgCS82 L107 R245


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Conservation information for LBS of GRHPR
Multiple alignments for Q9UBQ7 in multiple species
LBSAA sequence# speciesSpecies
A215DFIVVACSLTP1Homo sapiens
A215DILVVACPLTE1Arabidopsis thaliana
A215DFIVVSCSLTP1Mus musculus
C216FIVVACSLTPA1Homo sapiens
C216ILVVACPLTEQ1Arabidopsis thaliana
C216FIVVSCSLTPD1Mus musculus
D269AAAGLDVTSPE1Homo sapiens
D269GGAALDVFEQE1Arabidopsis thaliana
D269AAAGLDVTTPE1Mus musculus
G160TVGIIGLGRIG1Homo sapiens
G160SVGIIGLGRIG1Arabidopsis thaliana
G160TVGIVGLGRIG1Mus musculus
G162GIIGLGRIGQA1Homo sapiens
G162GIIGLGRIGTA1Arabidopsis thaliana
G162GIVGLGRIGQA1Mus musculus
G184RFLYTGRQPRP2Homo sapiens, Mus musculus
G184-INYYSRTIKP1Arabidopsis thaliana
G295ILPHIGSATHR1Homo sapiens
G295LLPHVGSGTVE1Arabidopsis thaliana
G295ILPHIGSATYK1Mus musculus
G84STMSVGIDHLA1Homo sapiens
G84SSFSVGLDKID1Arabidopsis thaliana
G84STLSVGVDHLA1Mus musculus
H293CVILPHIGSAT2Homo sapiens, Mus musculus
H293VVLLPHVGSGT1Arabidopsis thaliana
I159STVGIIGLGRI1Homo sapiens
I159KSVGIIGLGRI1Arabidopsis thaliana
I159STVGIVGLGRI1Mus musculus
I164IGLGRIGQAIA1Homo sapiens
I164IGLGRIGTAIA1Arabidopsis thaliana
I164VGLGRIGQAIA1Mus musculus
I243AVFINISRGDV1Homo sapiens
I243GVLINIGRGPH1Arabidopsis thaliana
I243AIFINISRGDV1Mus musculus
L107YTPDVLTDTTA1Homo sapiens
L107NTPDVLTEDVA1Arabidopsis thaliana
L107YTPGVLTDATA1Mus musculus
L161VGIIGLGRIGQ1Homo sapiens
L161VGIIGLGRIGT1Arabidopsis thaliana
L161VGIVGLGRIGQ1Mus musculus
L59GLLCLLSDHVD1Homo sapiens
L59-VVGNASAGAD1Arabidopsis thaliana
L59GLLCRLSDRVD1Mus musculus
Q186LYTGRQPRPEE1Homo sapiens
Q186NYYSRTIKPDV1Arabidopsis thaliana
Q186LYTGRQPRPQE1Mus musculus
R163IIGLGRIGQAI1Homo sapiens
R163IIGLGRIGTAI1Arabidopsis thaliana
R163IVGLGRIGQAI1Mus musculus
R185FLYTGRQPRPE1Homo sapiens
R185INYYSRTIKPD1Arabidopsis thaliana
R185FLYTGRQPRPQ1Mus musculus
R188TGRQPRPEEAA1Homo sapiens
R188YSRTIKPDVAY1Arabidopsis thaliana
R188TGRQPRPQEAA1Mus musculus
R245FINISRGDVVN2Homo sapiens, Mus musculus
R245LINIGRGPHVD1Arabidopsis thaliana
S217IVVACSLTPAT1Homo sapiens
S217LVVACPLTEQT1Arabidopsis thaliana
S217IVVSCSLTPDT1Mus musculus
S244VFINISRGDVV1Homo sapiens
S244VLINIGRGPHV1Arabidopsis thaliana
S244IFINISRGDVV1Mus musculus
S296LPHIGSATHRT1Homo sapiens
S296LPHVGSGTVET1Arabidopsis thaliana
S296LPHIGSATYKT1Mus musculus
S82VISTMSVGIDH1Homo sapiens
S82IVSSFSVGLDK1Arabidopsis thaliana
S82VISTLSVGVDH1Mus musculus
T111VLTDTTAELAV1Homo sapiens
T111VLTEDVADLAI1Arabidopsis thaliana
T111VLTDATAELAV1Mus musculus
T183QRFLYTGRQPR2Homo sapiens, Mus musculus
T183P-INYYSRTIK1Arabidopsis thaliana
T222SLTPATEGLCN1Homo sapiens
T222PLTEQTRHIVD1Arabidopsis thaliana
T222SLTPDTMGLCS1Mus musculus
V83ISTMSVGIDHL1Homo sapiens
V83VSSFSVGLDKI1Arabidopsis thaliana
V83ISTLSVGVDHL1Mus musculus


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