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 THTPA
Gene summary
Basic gene Info.Gene symbolTHTPA
Gene namethiamine triphosphatase
SynonymsTHTP|THTPASE
CytomapUCSC genome browser: 14q11.2
Type of geneprotein-coding
RefGenesNM_001126339.3,
NM_001256062.2,NM_001256321.2,NM_001256322.2,NM_001256323.2,
NM_024328.5,NR_023314.4,NR_046051.1,NR_046052.1,
Descriptionthiamine-triphosphatase
Modification date20141207
dbXrefs MIM : 611612
HGNC : HGNC
Ensembl : ENSG00000259431
HPRD : 15505
Vega : OTTHUMG00000172558
ProteinUniProt: Q9BU02
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_THTPA
BioGPS: 79178
PathwayNCI Pathway Interaction Database: THTPA
KEGG: THTPA
REACTOME: THTPA
Pathway Commons: THTPA
ContextiHOP: THTPA
ligand binding site mutation search in PubMed: THTPA
UCL Cancer Institute: THTPA
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:0016311dephosphorylation11827967


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Ligand binding site mutations for THTPA
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
R57,R55R56QOV1
K65K65RPRAD1
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 THTPA
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
R55R56Q-1.0060705
R57R56Q-1.0060705
K65K65R-0.20712913
(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 THTPA from PDB

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Differential gene expression and gene-gene network for THTPA
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 THTPA and the right PPI network was created from samples without mutations in the LBS of THTPA. 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 THTPA
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 THTPA
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 THTPA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
3POTRIPHOSPHATE(5-)3tvlAR55 R57 K65
3POTRIPHOSPHATE(5-)3tvlBR55 R57 K65


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Conservation information for LBS of THTPA
Multiple alignments for Q9BU02 in multiple species
LBSAA sequence# speciesSpecies
A192QETAPAKLIVY1Homo sapiens
A192QEEAPAKLMVY1Mus musculus
A192QEKAPAKLLVY1Rattus norvegicus
A192QGRAPAKLIVY1Bos taurus
E157GYAVGEVEALV2Homo sapiens, Bos taurus
E157GYAVGEVEAMV1Mus musculus
E157GYAVGEVEAVV1Rattus norvegicus
K11IEVERKFLPGP1Homo sapiens
K11IEVERKFAPGP1Mus musculus
K11IEVERKFTPGP1Rattus norvegicus
K11IEVERKFVPGP1Bos taurus
K193ETAPAKLIVYL1Homo sapiens
K193EEAPAKLMVYL1Mus musculus
K193EKAPAKLLVYL1Rattus norvegicus
K193GRAPAKLIVYL1Bos taurus
K65SGWELKCPGAA2Homo sapiens, Bos taurus
K65SGWELKCPGVT1Mus musculus
K65SGWEFKCPGVT1Rattus norvegicus
R125SFVTKRSAWKL2Homo sapiens, Bos taurus
R125SFITTRSSWKL2Mus musculus, Rattus norvegicus
R55SDHWLRQREGS2Mus musculus, Rattus norvegicus
R55ADHWLRRREDS1Homo sapiens
R55ADYWLRQREGS1Bos taurus
R57HWLRQREGSGW2Mus musculus, Rattus norvegicus
R57HWLRRREDSGW1Homo sapiens
R57YWLRQREGSGW1Bos taurus
Y39TFRDTYYDTSE2Mus musculus, Rattus norvegicus
Y39TFRDTYYDTPE1Homo sapiens
Y39TFRDSYYDTPE1Bos taurus


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