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mutLBSgeneDB |
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| Gene summary for THTPA |
 Gene summary |
| Basic gene Info. | Gene symbol | THTPA |
| Gene name | thiamine triphosphatase | |
| Synonyms | THTP|THTPASE | |
| Cytomap | UCSC genome browser: 14q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_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, | |
| Description | thiamine-triphosphatase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611612 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000259431 | ||
| HPRD : 15505 | ||
| Vega : OTTHUMG00000172558 | ||
| Protein | UniProt: Q9BU02 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_THTPA | |
| BioGPS: 79178 | ||
| Pathway | NCI Pathway Interaction Database: THTPA | |
| KEGG: THTPA | ||
| REACTOME: THTPA | ||
| Pathway Commons: THTPA | ||
| Context | iHOP: THTPA | |
| ligand binding site mutation search in PubMed: THTPA | ||
| UCL Cancer Institute: THTPA | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0016311 | dephosphorylation | 11827967 |
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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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R57,R55 | R56Q | OV | 1 | K65 | K65R | PRAD | 1 |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | R55 | R56Q | -1.0060705 | R57 | R56Q | -1.0060705 | K65 | K65R | -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) |
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| Phenotype information for THTPA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of THTPA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 3PO | TRIPHOSPHATE(5-) | 3tvl | A | R55 R57 K65 | 3PO | TRIPHOSPHATE(5-) | 3tvl | B | R55 R57 K65 |
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| Conservation information for LBS of THTPA |
| Multiple alignments for Q9BU02 in multiple species |
| LBS | AA sequence | # species | Species | A192 | QETAPAKLIVY | 1 | Homo sapiens | A192 | QEEAPAKLMVY | 1 | Mus musculus | A192 | QEKAPAKLLVY | 1 | Rattus norvegicus | A192 | QGRAPAKLIVY | 1 | Bos taurus | E157 | GYAVGEVEALV | 2 | Homo sapiens, Bos taurus | E157 | GYAVGEVEAMV | 1 | Mus musculus | E157 | GYAVGEVEAVV | 1 | Rattus norvegicus | K11 | IEVERKFLPGP | 1 | Homo sapiens | K11 | IEVERKFAPGP | 1 | Mus musculus | K11 | IEVERKFTPGP | 1 | Rattus norvegicus | K11 | IEVERKFVPGP | 1 | Bos taurus | K193 | ETAPAKLIVYL | 1 | Homo sapiens | K193 | EEAPAKLMVYL | 1 | Mus musculus | K193 | EKAPAKLLVYL | 1 | Rattus norvegicus | K193 | GRAPAKLIVYL | 1 | Bos taurus | K65 | SGWELKCPGAA | 2 | Homo sapiens, Bos taurus | K65 | SGWELKCPGVT | 1 | Mus musculus | K65 | SGWEFKCPGVT | 1 | Rattus norvegicus | R125 | SFVTKRSAWKL | 2 | Homo sapiens, Bos taurus | R125 | SFITTRSSWKL | 2 | Mus musculus, Rattus norvegicus | R55 | SDHWLRQREGS | 2 | Mus musculus, Rattus norvegicus | R55 | ADHWLRRREDS | 1 | Homo sapiens | R55 | ADYWLRQREGS | 1 | Bos taurus | R57 | HWLRQREGSGW | 2 | Mus musculus, Rattus norvegicus | R57 | HWLRRREDSGW | 1 | Homo sapiens | R57 | YWLRQREGSGW | 1 | Bos taurus | Y39 | TFRDTYYDTSE | 2 | Mus musculus, Rattus norvegicus | Y39 | TFRDTYYDTPE | 1 | Homo sapiens | Y39 | TFRDSYYDTPE | 1 | Bos taurus |
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