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TPMT (thiopurine S-methyltransferase)

Identity

Other names-
HGNC (Hugo) TPMT
LocusID (NCBI) 7172
Location 6p22.3
Location_base_pair Starts at 18128545 and ends at 18155374 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TPMT   12014
Cards
Entrez_Gene (NCBI)TPMT  7172  thiopurine S-methyltransferase
GeneCards (Weizmann)TPMT
Ensembl hg19 (Hinxton)ENSG00000137364 [Gene_View]  chr6:18128545-18155374 [Contig_View]  TPMT [Vega]
Ensembl hg38 (Hinxton)ENSG00000137364 [Gene_View]  chr6:18128545-18155374 [Contig_View]  TPMT [Vega]
ICGC DataPortalENSG00000137364
cBioPortalTPMT
AceView (NCBI)TPMT
Genatlas (Paris)TPMT
WikiGenes7172
SOURCE (Princeton)TPMT
Genomic and cartography
GoldenPath hg19 (UCSC)TPMT  -     chr6:18128545-18155374 -  6p22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TPMT  -     6p22.3   [Description]    (hg38-Dec_2013)
EnsemblTPMT - 6p22.3 [CytoView hg19]  TPMT - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBITPMT [Mapview hg19]  TPMT [Mapview hg38]
OMIM187680   610460   
Gene and transcription
Genbank (Entrez)AA746081 AA825975 AF021876 AF021877 AK310420
RefSeq transcript (Entrez)NM_000367
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_012137 NT_007592 NW_001838973 NW_004929326
Consensus coding sequences : CCDS (NCBI)TPMT
Cluster EST : UnigeneHs.444319 [ NCBI ]
CGAP (NCI)Hs.444319
Alternative Splicing : Fast-db (Paris)GSHG0026337
Alternative Splicing GalleryENSG00000137364
Gene ExpressionTPMT [ NCBI-GEO ]     TPMT [ SEEK ]   TPMT [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51580 (Uniprot)
NextProtP51580  [Medical]
With graphics : InterProP51580
Splice isoforms : SwissVarP51580 (Swissvar)
Catalytic activity : Enzyme2.1.1.67 [ Enzyme-Expasy ]   2.1.1.672.1.1.67 [ IntEnz-EBI ]   2.1.1.67 [ BRENDA ]   2.1.1.67 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)SAM_MT_TPMT (PS51585)   
Domains : Interpro (EBI)SAM-dependent_MTases-like    Thiopurine_S-MeTrfase    TPMT   
Related proteins : CluSTrP51580
Domain families : Pfam (Sanger)TPMT (PF05724)   
Domain families : Pfam (NCBI)pfam05724   
DMDM Disease mutations7172
Blocks (Seattle)P51580
PDB (SRS)2BZG    2H11   
PDB (PDBSum)2BZG    2H11   
PDB (IMB)2BZG    2H11   
PDB (RSDB)2BZG    2H11   
Human Protein AtlasENSG00000137364
Peptide AtlasP51580
HPRD01760
IPIIPI00019400   
Protein Interaction databases
DIP (DOE-UCLA)P51580
IntAct (EBI)P51580
FunCoupENSG00000137364
BioGRIDTPMT
IntegromeDBTPMT
STRING (EMBL)TPMT
Ontologies - Pathways
QuickGOP51580
Ontology : AmiGOcytosol  nucleobase-containing compound metabolic process  xenobiotic metabolic process  thiopurine S-methyltransferase activity  methylation  response to testosterone  small molecule metabolic process  extracellular vesicular exosome  
Ontology : EGO-EBIcytosol  nucleobase-containing compound metabolic process  xenobiotic metabolic process  thiopurine S-methyltransferase activity  methylation  response to testosterone  small molecule metabolic process  extracellular vesicular exosome  
Pathways : KEGGDrug metabolism - other enzymes   
Protein Interaction DatabaseTPMT
DoCM (Curated mutations)TPMT
Wikipedia pathwaysTPMT
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTPMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPMT
dbVarTPMT
ClinVarTPMT
1000_GenomesTPMT 
Exome Variant ServerTPMT
SNP (GeneSNP Utah)TPMT
SNP : HGBaseTPMT
Genetic variants : HAPMAPTPMT
Genomic VariantsTPMT  TPMT [DGVbeta]
Mutations
ICGC Data PortalENSG00000137364 
Somatic Mutations in Cancer : COSMICTPMT 
CONAN: Copy Number AnalysisTPMT 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:18128545-18155374
Mutations and Diseases : HGMDTPMT
OMIM187680    610460   
MedgenTPMT
NextProtP51580 [Medical]
GENETestsTPMT
Disease Genetic AssociationTPMT
Huge Navigator TPMT [HugePedia]  TPMT [HugeCancerGEM]
snp3D : Map Gene to Disease7172
DGIdb (Drug Gene Interaction db)TPMT
General knowledge
Homologs : HomoloGeneTPMT
Homology/Alignments : Family Browser (UCSC)TPMT
Phylogenetic Trees/Animal Genes : TreeFamTPMT
Chemical/Protein Interactions : CTD7172
Chemical/Pharm GKB GenePA356
Clinical trialTPMT
Cancer Resource (Charite)ENSG00000137364
Other databases
Probes
Litterature
PubMed223 Pubmed reference(s) in Entrez
CoreMineTPMT
GoPubMedTPMT
iHOPTPMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:02:40 CET 2014

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