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 TKT
Gene summary
Basic gene Info.Gene symbolTKT
Gene nametransketolase
SynonymsHEL107|TK|TKT1
CytomapUCSC genome browser: 3p14.3
Type of geneprotein-coding
RefGenesNM_001064.3,
NM_001135055.2,NM_001258028.1,NR_047580.1,NM_001135056.1,
NR_047579.1,
Descriptionepididymis luminal protein 107
Modification date20141211
dbXrefs MIM : 606781
HGNC : HGNC
Ensembl : ENSG00000163931
HPRD : 06001
Vega : OTTHUMG00000158192
ProteinUniProt: P29401
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TKT
BioGPS: 7086
PathwayNCI Pathway Interaction Database: TKT
KEGG: TKT
REACTOME: TKT
Pathway Commons: TKT
ContextiHOP: TKT
ligand binding site mutation search in PubMed: TKT
UCL Cancer Institute: TKT
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:0046166glyceraldehyde-3-phosphate biosynthetic process9611778


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Ligand binding site mutations for TKT
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
Q428A430TUCEC1
H258S256YUCEC1
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 TKT
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
H258S256Y-0.9239579
Q428A430T-0.63511754
(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 TKT from PDB

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Differential gene expression and gene-gene network for TKT
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 TKT and the right PPI network was created from samples without mutations in the LBS of TKT. 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 TKT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0349464Korsakoff Syndrome5Biomarker
umls:C0043121Wernicke Encephalopathy3Biomarker
umls:C0003130Anoxia1Biomarker
umls:C0007097Carcinoma1Biomarker
umls:C0024667Mammary Neoplasms, Animal1Biomarker
umls:C0024668Mammary Neoplasms, Experimental1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker

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

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Pharmacological information for TKT
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 TKT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
TPPTHIAMINE(1+) DIPHOSPHATE(3-)3mosAH258
TDPTHIAMINE(1+) DIPHOSPHATE3ooyAH258
TDPTHIAMINE(1+) DIPHOSPHATE3ooyBH258
S6PSORBITOL 6-PHOSPHATE4kxuAH258
TDPTHIAMINE(1+) DIPHOSPHATE4kxuAH258
TDPTHIAMINE(1+) DIPHOSPHATE4kxvAH258
DX5D-XYLITOL-5-PHOSPHATE4kxvAH258
TDPTHIAMINE(1+) DIPHOSPHATE4kxwAH258
DX5D-XYLITOL-5-PHOSPHATE4kxwAH258
DX5D-XYLITOL-5-PHOSPHATE4kxwAH258
1Y7(2R,3R,4S,5R,6S)-2,3,4,5,6,7-HEXAHYDROXYHEPTYL DIHYDROGEN PHOSPHATE4kxxAH258
TDPTHIAMINE(1+) DIPHOSPHATE4kxxAH258
1U02-{4-[(4-AMINO-2-METHYLPYRIMIDIN-5-YL)METHYL]-5-[(1R)- 1,2-DIHYDROXYETHYL]-3-METHYLTHIOPHEN-2-YL}ETHYL TRIHYDROGEN DIPHOSPHATE4kxyAH258
1U02-{4-[(4-AMINO-2-METHYLPYRIMIDIN-5-YL)METHYL]-5-[(1R)- 1,2-DIHYDROXYETHYL]-3-METHYLTHIOPHEN-2-YL}ETHYL TRIHYDROGEN DIPHOSPHATE4kxyBH258
TDPTHIAMINE(1+) DIPHOSPHATE3ooyAQ428
TDPTHIAMINE(1+) DIPHOSPHATE3ooyBQ428
1U02-{4-[(4-AMINO-2-METHYLPYRIMIDIN-5-YL)METHYL]-5-[(1R)- 1,2-DIHYDROXYETHYL]-3-METHYLTHIOPHEN-2-YL}ETHYL TRIHYDROGEN DIPHOSPHATE4kxyAQ428
1U02-{4-[(4-AMINO-2-METHYLPYRIMIDIN-5-YL)METHYL]-5-[(1R)- 1,2-DIHYDROXYETHYL]-3-METHYLTHIOPHEN-2-YL}ETHYL TRIHYDROGEN DIPHOSPHATE4kxyBQ428


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Conservation information for LBS of TKT
Multiple alignments for P29401 in multiple species
LBSAA sequence# speciesSpecies
D155YCLLGDGELSE2Homo sapiens, Pan troglodytes
D155YCMLGDGEVSE2Mus musculus, Rattus norvegicus
D155YCMLGDGELSE1Bos taurus
D341IALDGDTKNST5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
E157LLGDGELSEGS2Homo sapiens, Pan troglodytes
E157MLGDGEVSEGS2Mus musculus, Rattus norvegicus
E157MLGDGELSEGS1Bos taurus
E160DGELSEGSVWE3Homo sapiens, Bos taurus, Pan troglodytes
E160DGEVSEGSVWE2Mus musculus, Rattus norvegicus
E366ECYIAEQNMVS5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
F392STFAAFFTRAF5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
G123TDVATGSLGQG5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
G154VYCLLGDGELS2Homo sapiens, Pan troglodytes
G154VYCMLGDGEVS2Mus musculus, Rattus norvegicus
G154VYCMLGDGELS1Bos taurus
G156CLLGDGELSEG2Homo sapiens, Pan troglodytes
G156CMLGDGEVSEG2Mus musculus, Rattus norvegicus
G156CMLGDGELSEG1Bos taurus
G188DINRLGQSDPA5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
H110SDLDGHPVPKQ5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
H258DKESWHGKPLP2Homo sapiens, Bos taurus
H258DKEAWHGKPLP2Mus musculus, Rattus norvegicus
H258GKESWHGKPFP1Pan troglodytes
H37AAGSGHPTSCC5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
H77VLSKGHAAPIL5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
I364FIECYIAEQNM5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
K244IAKTFKGRGIT5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
K75RFVLSKGHAAP5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
L125VATGSLGQGLG5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
L187LDINRLGQSDP3Homo sapiens, Bos taurus, Pan troglodytes
L187FDINRLGQSDP2Mus musculus, Rattus norvegicus
N185AILDINRLGQS3Homo sapiens, Bos taurus, Pan troglodytes
N185AIFDINRLGQS2Mus musculus, Rattus norvegicus
Q189INRLGQSDPAP5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
Q428EDGPSQMALED5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
R395AAFFTRAFDQI5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
S124DVATGSLGQGL5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
S40SGHPTSCCSAA5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus
T342ALDGDTKNSTF5Homo sapiens, Bos taurus, Pan troglodytes, Mus musculus, Rattus norvegicus


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