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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for TPMT |
Basic gene info. | Gene symbol | TPMT |
Gene name | thiopurine S-methyltransferase | |
Synonyms | - | |
Cytomap | UCSC genome browser: 6p22.3 | |
Genomic location | chr6 :18128544-18155374 | |
Type of gene | protein-coding | |
RefGenes | NM_000367.3, | |
Ensembl id | ENSG00000137364 | |
Description | S-adenosyl-L-methionine:thiopurine S-methyltransferase | |
Modification date | 20141222 | |
dbXrefs | MIM : 187680 | |
HGNC : HGNC | ||
Ensembl : ENSG00000137364 | ||
HPRD : 01760 | ||
Vega : OTTHUMG00000014317 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TPMT | |
BioGPS: 7172 | ||
Gene Expression Atlas: ENSG00000137364 | ||
The Human Protein Atlas: ENSG00000137364 | ||
Pathway | NCI Pathway Interaction Database: TPMT | |
KEGG: TPMT | ||
REACTOME: TPMT | ||
ConsensusPathDB | ||
Pathway Commons: TPMT | ||
Metabolism | MetaCyc: TPMT | |
HUMANCyc: TPMT | ||
Regulation | Ensembl's Regulation: ENSG00000137364 | |
miRBase: chr6 :18,128,544-18,155,374 | ||
TargetScan: NM_000367 | ||
cisRED: ENSG00000137364 | ||
Context | iHOP: TPMT | |
cancer metabolism search in PubMed: TPMT | ||
UCL Cancer Institute: TPMT | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for TPMT(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: TPMT |
Familial Cancer Database: TPMT |
* This gene is included in those cancer gene databases. |
. | ||||||||||||||||||||
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
KEGG_DRUG_METABOLISM_OTHER_ENZYMES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: TPMT |
MedGen: TPMT (Human Medical Genetics with Condition) | |
ClinVar: TPMT | |
Phenotype | MGI: TPMT (International Mouse Phenotyping Consortium) |
PhenomicDB: TPMT |
Mutations for TPMT |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows TPMT related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BU608204 | TPMT | 19 | 350 | 6 | 18129945 | 18130276 | PHACTR2 | 348 | 658 | 6 | 144148681 | 144148991 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=15) | (# total SNVs=5) |
(# total SNVs=0) | (# total SNVs=1) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr6:18148082-18148082 | p.L69V | 2 |
chr6:18139944-18139944 | p.S124Y | 2 |
chr6:18149270-18149270 | p.Q30R | 1 |
chr6:18130994-18130994 | p.R215C | 1 |
chr6:18143892-18143893 | p.T101fs*22 | 1 |
chr6:18149277-18149277 | p.E28Q | 1 |
chr6:18132364-18132364 | p.G209S | 1 |
chr6:18143897-18143897 | p.F99C | 1 |
chr6:18149297-18149297 | p.N21T | 1 |
chr6:18132371-18132371 | p.R206R | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 1 |   | 5 |   |   |   |   |   |   |   | 1 |   |   |   |   | 2 | 2 |   | 2 |
# mutation |   | 1 |   | 5 |   |   |   |   |   |   |   | 1 |   |   |   |   | 2 | 2 |   | 2 |
nonsynonymous SNV |   |   |   | 3 |   |   |   |   |   |   |   | 1 |   |   |   |   | 2 | 1 |   | 2 |
synonymous SNV |   | 1 |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr6:18139944 | p.S124Y | 2 |
chr6:18132364 | p.G209S | 1 |
chr6:18132371 | p.R206R | 1 |
chr6:18134087 | p.K176N | 1 |
chr6:18134095 | p.L174L | 1 |
chr6:18139903 | p.L138I | 1 |
chr6:18143837 | p.K119T | 1 |
chr6:18148086 | p.F67F | 1 |
chr6:18149254 | p.N35N | 1 |
chr6:18149270 | p.Q30R | 1 |
Other DBs for Point Mutations |
Copy Number for TPMT in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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Gene Expression for TPMT |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
ACOT13,LINC00305,C6orf62,MCUR1,DEK,FAM8A1,HIST1H2BB, JARID2,KDM1B,KIF13A,MRS2,NHLRC1,NUP153,RIT2, RNF144B,SLC35B3,SSR1,TDP2,TPMT,ZNF184,ZNF271P | AAGAB,AGPAT5,ATP6V1G1,BUB3,RHNO1,VWA9,C3orf14, CD9,CDS1,HAT1,HSBP1,LCA5L,LRRC42,MTHFD2, POLB,PPA2,SRP54,SSX2IP,SVIP,TPMT,USP10 | ||||
ASS1,BAK1,BCL10,GSKIP,CYSTM1,F2RL1,GPA33, IFNGR1,KDM1B,LGALS3,LGR4,LRRC1,MALL,MOB3B, PLS1,PPP1R11,RPS6KA1,SLC35A3,TMEM45B,TMEM54,TPMT | ABHD3,ARPC5,CYSTM1,ABRACL,CDC42SE2,CHMP2B,MICU2, GHITM,HIGD1A,HN1,LRRC19,MYL12A,MYL12B,NAT1, ORMDL2,PEX13,SLMO2,STX12,TPMT,UBE2A,VPS26A |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for TPMT |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB01250 | thiopurine S-methyltransferase | approved | Olsalazine | ||
DB01234 | thiopurine S-methyltransferase | approved; investigational | Dexamethasone | ||
DB00650 | thiopurine S-methyltransferase | approved | Leucovorin | ||
DB01248 | thiopurine S-methyltransferase | approved; investigational | Docetaxel | ||
DB00640 | thiopurine S-methyltransferase | approved; investigational | Adenosine | ||
DB00134 | thiopurine S-methyltransferase | approved; nutraceutical | L-Methionine | ||
DB01327 | thiopurine S-methyltransferase | approved | Cefazolin | ||
DB00544 | thiopurine S-methyltransferase | approved | Fluorouracil | ||
DB00762 | thiopurine S-methyltransferase | approved; investigational | Irinotecan | ||
DB00987 | thiopurine S-methyltransferase | approved; investigational | Cytarabine | ||
DB00694 | thiopurine S-methyltransferase | approved | Daunorubicin | ||
DB00773 | thiopurine S-methyltransferase | approved | Etoposide | ||
DB01033 | thiopurine S-methyltransferase | approved | Mercaptopurine | ||
DB00563 | thiopurine S-methyltransferase | approved | Methotrexate | ||
DB00635 | thiopurine S-methyltransferase | approved | Prednisone | ||
DB00541 | thiopurine S-methyltransferase | approved; investigational | Vincristine | ||
DB00352 | thiopurine S-methyltransferase | approved | Thioguanine | ||
DB00993 | thiopurine S-methyltransferase | approved | Azathioprine | ||
DB01454 | thiopurine S-methyltransferase | illicit; experimental | 3,4-Methylenedioxymethamphetamine | ||
DB00668 | thiopurine S-methyltransferase | approved | Epinephrine | ||
DB00795 | thiopurine S-methyltransferase | approved | Sulfasalazine | ||
DB00515 | thiopurine S-methyltransferase | approved | Cisplatin |
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Cross referenced IDs for TPMT |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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