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 UMPS
Gene summary
Basic gene Info.Gene symbolUMPS
Gene nameuridine monophosphate synthetase
SynonymsOPRT
CytomapUCSC genome browser: 3q13
Type of geneprotein-coding
RefGenesNM_000373.3,
NR_033434.1,NR_033437.1,
DescriptionOMPdecaseOPRTaseUMP synthaseorotate phosphoribosyltransferaseorotidine 5'-phosphate decarboxylaseuridine 5'-monophosphate synthase
Modification date20141207
dbXrefs MIM : 613891
HGNC : HGNC
HPRD : 02022
ProteinUniProt: P11172
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_UMPS
BioGPS: 7372
PathwayNCI Pathway Interaction Database: UMPS
KEGG: UMPS
REACTOME: UMPS
Pathway Commons: UMPS
ContextiHOP: UMPS
ligand binding site mutation search in PubMed: UMPS
UCL Cancer Institute: UMPS
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:0006222UMP biosynthetic process11730338


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Ligand binding site mutations for UMPS
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
K314K314TCOAD1
I448I446SCOAD1
D312,F310E311KKIRC1
K281K281NLUAD1
Q430G429SLUAD1
E232P234AOV1
R451R451CSTAD1
R451R451CUCEC1
R451R451HUCEC1
V125,T127V126AUCEC1
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 UMPS
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
I448I446S-1.6223852
D312E311K-1.1894511
F310E311K-1.1894511
K314K314T-1.0931863
V125V126A-1.0631898
T127V126A-1.0631898
K281K281N-1.033769
R451R451H-0.87482748
Q430G429S-0.77832326
R451R451C-0.63944561
E232P234A-0.57900707
(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 UMPS from PDB

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Differential gene expression and gene-gene network for UMPS
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 UMPS and the right PPI network was created from samples without mutations in the LBS of UMPS. 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 UMPS
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009404Colorectal Neoplasms7AlteredExpression, Biomarker
umls:C0038356Stomach Neoplasms6AlteredExpression, Biomarker, GeneticVariation
umls:C0268130Oroticaciduria 12Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms2AlteredExpression, Biomarker
umls:C2239176Carcinoma, Hepatocellular2Biomarker
umls:C0009375Colonic Neoplasms2Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms2Biomarker
umls:C0949116Anemia, Hypoplastic, Congenital1Biomarker
umls:C0002895Anemia, Sickle Cell1Biomarker
umls:C0005283beta-Thalassemia1Biomarker
umls:C0007137Carcinoma, Squamous Cell1Biomarker
umls:C0023440Leukemia, Erythroblastic, Acute1Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0037889Spherocytosis, Hereditary1Biomarker
umls:C0268128Orotic aciduria1Biomarker, GeneticVariation

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

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Pharmacological information for UMPS
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
ExperimentalDB028906-Hydroxyuridine-5'-PhosphateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of UMPS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GOLGLYCEROL2qceAE232
GOLGLYCEROL2qceAK281
IODIODIDE2qchAK281 D312 K314 I448
U5PUMP2qcdAK281 D312 K314 Q430 R451
U5PUMP2qcdBK281 D312 K314 Q430 R451
5BU5-BROMO-URIDINE-5'-MONOPHOSPHATE2qcgBK281 D312 K314 Q430 R451
5IUIDUMP2qchBK281 D312 K314 Q430 R451
U5PUMP2qcnAK281 D312 K314 Q430 R451
U5PUMP2qcnBK281 D312 K314 Q430 R451
U5PUMP2v30AK281 D312 K314 Q430 R451
U5PUMP2v30BK281 D312 K314 Q430 R451
U5PUMP3ex1AK281 D312 K314 Q430 R451
6CN6-AMINOURIDINE 5'-MONOPHOSPHATE3ex1BK281 D312 K314 Q430 R451
6CN6-AMINOURIDINE 5'-MONOPHOSPHATE3ex2AK281 D312 K314 Q430 R451
6CN6-AMINOURIDINE 5'-MONOPHOSPHATE3ex2BK281 D312 K314 Q430 R451
U5PUMP3ex3AK281 D312 K314 Q430 R451
U5PUMP3ex3BK281 D312 K314 Q430 R451
BMP6-HYDROXYURIDINE-5'-PHOSPHATE3ex4AK281 D312 K314 Q430 R451
5BU5-BROMO-URIDINE-5'-MONOPHOSPHATE2qcgAK281 D312 Q430 R451
BMP6-HYDROXYURIDINE-5'-PHOSPHATE3ewxAK281 D312 Q430 R451
U5PUMP3ewyAK281 D312 Q430 R451
CNU5-CYANO-UMP3ewzAK281 D312 Q430 R451
CNU5-CYANO-UMP3ewzBK281 D312 Q430 R451
IODIODIDE2qchBK281 F310 D312 K314 I448
5FU5-FLUORO-URIDINE-5'-MONOPHOSPHATE2qcfAK281 K314 Q430 R451
5IUIDUMP2qchAK281 K314 Q430 R451
UMPDUMP2qchAK281 K314 Q430 R451
UMPDUMP2qchBK281 K314 Q430 R451
OMPOROTIDINE-5'-MONOPHOSPHATE2qclAK281 K314 Q430 R451
OMPOROTIDINE-5'-MONOPHOSPHATE2qclBK281 K314 Q430 R451
UEP6-ETHYLURIDINE 5'-PHOSPHATE3ewuAK281 K314 Q430 R451
UEP6-ETHYLURIDINE 5'-PHOSPHATE3ewuBK281 K314 Q430 R451
U1P6-[(E)-IMINOMETHYL]URIDINE 5'-PHOSPHATE3ewwAK281 K314 Q430 R451
U1P6-[(E)-IMINOMETHYL]URIDINE 5'-PHOSPHATE3ewwBK281 K314 Q430 R451
U5PUMP3ex6BK281 K314 Q430 R451
JW56-(HYDROXYMETHYL)URIDINE 5'-(DIHYDROGEN PHOSPHATE)2qcmAK281 Q430 R451
SO4SULFATE2qceAQ430 R451
OMPOROTIDINE-5'-MONOPHOSPHATE2wnsAV125 T127
OMPOROTIDINE-5'-MONOPHOSPHATE2wnsBV125 T127


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Conservation information for LBS of UMPS
Multiple alignments for P11172 in multiple species
LBSAA sequence# speciesSpecies
A229ELSFGARAELP3Homo sapiens, Bos taurus, Mus musculus
A229KLTYENRANLA1Drosophila melanogaster
A229VLGFKERSELS1Arabidopsis thaliana
A229RKGFAERAGLA1Oryza sativa subsp. japonica
D259LCLSADVSLAR1Homo sapiens
D259LCLAADLTHAD1Drosophila melanogaster
D259LCLSADVSESR1Bos taurus
D259LCLSADVSEAR1Mus musculus
D259LCLAADVGTAA1Arabidopsis thaliana
D259LCVAADVGTAK1Oryza sativa subsp. japonica
D312FLIFEDRKFAD5Homo sapiens, Bos taurus, Mus musculus, Arabidopsis thaliana, Oryza sativa subsp. japonica
D312FLLMEDRKFAD1Drosophila melanogaster
D317DRKFADIGNTV6Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Arabidopsis thaliana, Oryza sativa subsp. japonica
E123TCLIIEDVVTS1Homo sapiens
E123TCLIVEDVVTS1Drosophila melanogaster
E123TCLIIEDVVSS1Bos taurus
E123TCLVIEDVVTS1Mus musculus
E123TCLIIEDLVTS1Arabidopsis thaliana
E123AVLIIEDLVTS1Oryza sativa subsp. japonica
E232FGARAELPGTH2Bos taurus, Mus musculus
E232FGARAELPRIH1Homo sapiens
E232YENRANLAK-S1Drosophila melanogaster
E232FKERSELSK-N1Arabidopsis thaliana
E232FAERAGLAK-N1Oryza sativa subsp. japonica
F310HEFLIFEDRKF3Homo sapiens, Bos taurus, Mus musculus
F310HNFLLMEDRKF1Drosophila melanogaster
F310HKFLIFEDRKF1Arabidopsis thaliana
F310HNFLIFEDRKF1Oryza sativa subsp. japonica
G129DLVTSGASVLE2Arabidopsis thaliana, Oryza sativa subsp. japonica
G129DVVTSGSSVLE1Homo sapiens
G129DVVTSGSSILD1Drosophila melanogaster
G129DVVSSGSSVWE1Bos taurus
G129DVVTSGASVLE1Mus musculus
G228KELSFGARAEL3Homo sapiens, Bos taurus, Mus musculus
G228TKLTYENRANL1Drosophila melanogaster
G228RVLGFKERSEL1Arabidopsis thaliana
G228VRKGFAERAGL1Oryza sativa subsp. japonica
G450DIIIVGRGIIK2Arabidopsis thaliana, Oryza sativa subsp. japonica
G450DIIIVGRGIIS1Homo sapiens
G450DIGVVGRGILK1Drosophila melanogaster
G450DIIIVGRGIIA1Bos taurus
G450DVIIVGRGILA1Mus musculus
H283CMLKTHVDILN2Homo sapiens, Mus musculus
H283CLLKTHVDIVE1Drosophila melanogaster
H283CLLKIHVDILN1Bos taurus
H283CLLKTHVDILP1Arabidopsis thaliana
H283CMLKTHVDILS1Oryza sativa subsp. japonica
I318RKFADIGNTVK3Homo sapiens, Bos taurus, Mus musculus
I318RKFADIGNTVT2Arabidopsis thaliana, Oryza sativa subsp. japonica
I318RKFADIGNTVS1Drosophila melanogaster
I368RGLLLLAEMSS2Arabidopsis thaliana, Oryza sativa subsp. japonica
I368RGCLLIAEMSS1Homo sapiens
I368RGVFLLAEMSA1Drosophila melanogaster
I368RACLLVAEMSS1Bos taurus
I368RACLLIAEMSS1Mus musculus
I38SSPVYIDLRGI2Bos taurus, Mus musculus
I38SSPIYIDLRGI1Homo sapiens
I38NSPVYFDLRVI1Drosophila melanogaster
I38FSPVYIDLRLI1Arabidopsis thaliana
I38TSPIYLDLRAL1Oryza sativa subsp. japonica
I401FVIGFISGSRV2Bos taurus, Mus musculus
I401FVVGFISGSRV1Homo sapiens
I401--VDFVAGVVC1Drosophila melanogaster
I401FVMGFISVNPA1Arabidopsis thaliana
I401FVIGFISVNPA1Oryza sativa subsp. japonica
I448GSDIIIVGRGI4Homo sapiens, Bos taurus, Arabidopsis thaliana, Oryza sativa subsp. japonica
I448GADIGVVGRGI1Drosophila melanogaster
I448GSDVIIVGRGI1Mus musculus
K281SICMLKTHVDI2Homo sapiens, Mus musculus
K281YICLLKTHVDI1Drosophila melanogaster
K281RICLLKIHVDI1Bos taurus
K281EICLLKTHVDI1Arabidopsis thaliana
K281EICMLKTHVDI1Oryza sativa subsp. japonica
K29GDFVLKSGLSS1Homo sapiens
K29GDFKMKVGINS1Drosophila melanogaster
K29GNFVLKSGLSS1Bos taurus
K29GSFVLKSGLSS1Mus musculus
K29GNFKLKSGIFS1Arabidopsis thaliana
K29GTFVLKSGITS1Oryza sativa subsp. japonica
K314IFEDRKFADIG5Homo sapiens, Bos taurus, Mus musculus, Arabidopsis thaliana, Oryza sativa subsp. japonica
K314LMEDRKFADIG1Drosophila melanogaster
L28FGDFVLKSGLS1Homo sapiens
L28FGDFKMKVGIN1Drosophila melanogaster
L28FGNFVLKSGLS1Bos taurus
L28FGSFVLKSGLS1Mus musculus
L28FGNFKLKSGIF1Arabidopsis thaliana
L28FGTFVLKSGIT1Oryza sativa subsp. japonica
M371LLLAEMSSAGN2Arabidopsis thaliana, Oryza sativa subsp. japonica
M371LLIAEMSSTGS1Homo sapiens
M371FLLAEMSASGN1Drosophila melanogaster
M371LLVAEMSSAGT1Bos taurus
M371LLIAEMSSAGS1Mus musculus
N341WADLVNAHVVP1Homo sapiens
N341WADLVTAHTLP1Drosophila melanogaster
N341WADLVNAHAVP1Bos taurus
N341WADIVNAHVVP1Mus musculus
N341WADIINAHVIS1Arabidopsis thaliana
N341WADIVNAHIIP1Oryza sativa subsp. japonica
P417FLHLTPGVQLE3Homo sapiens, Bos taurus, Mus musculus
P417LLQLTPGVKID1Drosophila melanogaster
P417MIHATPGVQMV1Arabidopsis thaliana
P417FIHATPGVQMV1Oryza sativa subsp. japonica
Q430GDALGQQYNTP2Arabidopsis thaliana, Oryza sativa subsp. japonica
Q430GDNLGQQYNSP1Homo sapiens
Q430VDQLGQQYQSP1Drosophila melanogaster
Q430GDNLGQQYHSP1Bos taurus
Q430GDHLGQQYNSP1Mus musculus
R155IVLLDREQGGK2Homo sapiens, Mus musculus
R155VVVVDREQGGV1Drosophila melanogaster
R155VVLVDREQGGR1Bos taurus
R155VVLIDRQQGGR1Arabidopsis thaliana
R155VVVVDREQGGR1Oryza sativa subsp. japonica
R451IIIVGRGIIKA2Arabidopsis thaliana, Oryza sativa subsp. japonica
R451IIIVGRGIISA1Homo sapiens
R451IGVVGRGILKA1Drosophila melanogaster
R451IIIVGRGIIAS1Bos taurus
R451VIIVGRGILAA1Mus musculus
S128EDLVTSGASVL2Arabidopsis thaliana, Oryza sativa subsp. japonica
S128EDVVTSGSSVL1Homo sapiens
S128EDVVTSGSSIL1Drosophila melanogaster
S128EDVVSSGSSVW1Bos taurus
S128EDVVTSGASVL1Mus musculus
S131VTSGASVLETA2Arabidopsis thaliana, Oryza sativa subsp. japonica
S131VTSGSSVLETV1Homo sapiens
S131VTSGSSILDTV1Drosophila melanogaster
S131VSSGSSVWETA1Bos taurus
S131VTSGASVLETV1Mus musculus
S257TNLCLSADVSE2Bos taurus, Mus musculus
S257TNLCLSADVSL1Homo sapiens
S257TNLCLAADLTH1Drosophila melanogaster
S257TNLCLAADVGT1Arabidopsis thaliana
S257SNLCVAADVGT1Oryza sativa subsp. japonica
S372LLAEMSSAGNL2Arabidopsis thaliana, Oryza sativa subsp. japonica
S372LIAEMSSTGSL1Homo sapiens
S372LLAEMSASGNL1Drosophila melanogaster
S372LVAEMSSAGTL1Bos taurus
S372LIAEMSSAGSL1Mus musculus
T127IEDLVTSGASV2Arabidopsis thaliana, Oryza sativa subsp. japonica
T127IEDVVTSGSSV1Homo sapiens
T127VEDVVTSGSSI1Drosophila melanogaster
T127IEDVVSSGSSV1Bos taurus
T127IEDVVTSGASV1Mus musculus
T321ADIGNTVKKQY3Homo sapiens, Bos taurus, Mus musculus
T321ADIGNTVTMQY2Arabidopsis thaliana, Oryza sativa subsp. japonica
T321ADIGNTVSLQY1Drosophila melanogaster
V125LIIEDLVTSGA2Arabidopsis thaliana, Oryza sativa subsp. japonica
V125LIIEDVVTSGS1Homo sapiens
V125LIVEDVVTSGS1Drosophila melanogaster
V125LIIEDVVSSGS1Bos taurus
V125LVIEDVVTSGA1Mus musculus
V449SDIIIVGRGII4Homo sapiens, Bos taurus, Arabidopsis thaliana, Oryza sativa subsp. japonica
V449ADIGVVGRGIL1Drosophila melanogaster
V449SDVIIVGRGIL1Mus musculus
Y37LSSPVYIDLRG2Bos taurus, Mus musculus
Y37LSSPIYIDLRG1Homo sapiens
Y37INSPVYFDLRV1Drosophila melanogaster
Y37IFSPVYIDLRL1Arabidopsis thaliana
Y37ITSPIYLDLRA1Oryza sativa subsp. japonica
Y432ALGQQYNTPHS2Arabidopsis thaliana, Oryza sativa subsp. japonica
Y432NLGQQYNSPQE1Homo sapiens
Y432QLGQQYQSPEH1Drosophila melanogaster
Y432NLGQQYHSPQE1Bos taurus
Y432HLGQQYNSPQE1Mus musculus


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