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mutLBSgeneDB |
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| Gene summary for TPMT |
 Gene summary |
| Basic gene Info. | Gene symbol | TPMT |
| Gene name | thiopurine S-methyltransferase | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 6p22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000367.3, | |
| Description | S-adenosyl-L-methionine:thiopurine S-methyltransferase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 187680 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137364 | ||
| HPRD : 01760 | ||
| Vega : OTTHUMG00000014317 | ||
| Protein | UniProt: P51580 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TPMT | |
| BioGPS: 7172 | ||
| Pathway | NCI Pathway Interaction Database: TPMT | |
| KEGG: TPMT | ||
| REACTOME: TPMT | ||
| Pathway Commons: TPMT | ||
| Context | iHOP: TPMT | |
| ligand binding site mutation search in PubMed: TPMT | ||
| UCL Cancer Institute: TPMT | ||
| 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 |
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| Ligand binding site mutations for TPMT |
| 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 | W29 | Q30R | COAD | 1 | W29 | E28Q | STAD | 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 TPMT |
| 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 | W29 | E28Q | -1.8278175 | W29 | Q30R | -0.90800948 |
| (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 TPMT from PDB |
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| Differential gene expression and gene-gene network for TPMT |
| 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 TPMT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023530 | Leukopenia | 32 | Biomarker, GeneticVariation |
| umls:C0342801 | Thiopurine S methyltranferase deficiency | 14 | Biomarker, GeneticVariation |
| umls:C0027947 | Neutropenia | 6 | Biomarker, GeneticVariation |
| umls:C2750088 | HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TPMT |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB01250 | Olsalazine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TPMT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2bzg | A | W29 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2h11 | A | W29 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2h11 | B | W29 |
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| Conservation information for LBS of TPMT |
| Multiple alignments for P51580 in multiple species |
| LBS | AA sequence | # species | Species | A157 | RGALVAINPGD | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Canis lupus familiaris | A157 | RGALVAVNPSD | 1 | Bos taurus | C133 | ISLYCCSIFDL | 3 | Homo sapiens, Mus musculus, Pan troglodytes | C133 | ISLYCCSLFDL | 1 | Canis lupus familiaris | C133 | ISLYCCNLFDL | 1 | Bos taurus | C70 | VFFPLCGKAVE | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | C70 | VFFPLCGKAIE | 1 | Mus musculus | E90 | SVVGVEISELG | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | E90 | TVVGVEISEIG | 1 | Mus musculus | F40 | NGKTAFHQEQG | 2 | Homo sapiens, Pan troglodytes | F40 | TRHISFHQEQG | 1 | Mus musculus | F40 | SRRIGFHQEQG | 1 | Canis lupus familiaris | F40 | NHKTGFHQEQG | 1 | Bos taurus | G153 | MIWDRGALVAI | 2 | Homo sapiens, Pan troglodytes | G153 | RIWDRGALVAI | 2 | Mus musculus, Canis lupus familiaris | G153 | RIWDRGALVAV | 1 | Bos taurus | I135 | LYCCSIFDLPR | 3 | Homo sapiens, Mus musculus, Pan troglodytes | I135 | LYCCSLFDLPR | 1 | Canis lupus familiaris | I135 | LYCCNLFDLPR | 1 | Bos taurus | I91 | VVGVEISELGI | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | I91 | VVGVEISEIGI | 1 | Mus musculus | L26 | NQVLTLEEWQD | 2 | Homo sapiens, Pan troglodytes | L26 | NQVLTLEDWKE | 1 | Mus musculus | L26 | NRVLTLEEWQE | 1 | Canis lupus familiaris | L26 | DRVLTLEEWQE | 1 | Bos taurus | L69 | RVFFPLCGKAV | 4 | Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus | L69 | RVFFPLCGKAI | 1 | Mus musculus | R152 | DRIWDRGALVA | 3 | Mus musculus, Canis lupus familiaris, Bos taurus | R152 | DMIWDRGALVA | 2 | Homo sapiens, Pan troglodytes | S134 | SLYCCSIFDLP | 3 | Homo sapiens, Mus musculus, Pan troglodytes | S134 | SLYCCSLFDLP | 1 | Canis lupus familiaris | S134 | SLYCCNLFDLP | 1 | Bos taurus | W29 | LTLEEWQDKWV | 2 | Homo sapiens, Pan troglodytes | W29 | LTLEEWQEKWV | 2 | Canis lupus familiaris, Bos taurus | W29 | LTLEDWKEKWV | 1 | Mus musculus | W33 | EWQDKWVNGKT | 2 | Homo sapiens, Pan troglodytes | W33 | DWKEKWVTRHI | 1 | Mus musculus | W33 | EWQEKWVSRRI | 1 | Canis lupus familiaris | W33 | EWQEKWVNHKT | 1 | Bos taurus |
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