Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TPMT (thiopurine S-methyltransferase)

Identity

Other aliasTPMTD
HGNC (Hugo) TPMT
LocusID (NCBI) 7172
Atlas_Id 42680
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 18128314 and ends at 18155169 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KIF13A (6p22.3) / TPMT (6p22.3)NF1 (17q11.2) / TPMT (6p22.3)RANBP9 (6p23) / TPMT (6p22.3)
TPMT (6p22.3) / PHACTR2 (6q24.2)KIF13A 6p22.3 / TPMT 6p22.3NF1 17q11.2 / TPMT 6p22.3
RANBP9 6p23 / TPMT 6p22.3

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
LRG (Locus Reference Genomic)LRG_874
Cards
Entrez_Gene (NCBI)TPMT  7172  thiopurine S-methyltransferase
AliasesTPMTD
GeneCards (Weizmann)TPMT
Ensembl hg19 (Hinxton)ENSG00000137364 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137364 [Gene_View]  chr6:18128314-18155169 [Contig_View]  TPMT [Vega]
ICGC DataPortalENSG00000137364
TCGA cBioPortalTPMT
AceView (NCBI)TPMT
Genatlas (Paris)TPMT
WikiGenes7172
SOURCE (Princeton)TPMT
Genetics Home Reference (NIH)TPMT
Genomic and cartography
GoldenPath hg38 (UCSC)TPMT  -     chr6:18128314-18155169 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPMT  -     6p22.3   [Description]    (hg19-Feb_2009)
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 NM_001346817 NM_001346818
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TPMT
Cluster EST : UnigeneHs.444319 [ NCBI ]
CGAP (NCI)Hs.444319
Alternative Splicing GalleryENSG00000137364
Gene ExpressionTPMT [ NCBI-GEO ]   TPMT [ EBI - ARRAY_EXPRESS ]   TPMT [ SEEK ]   TPMT [ MEM ]
Gene Expression Viewer (FireBrowse)TPMT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7172
GTEX Portal (Tissue expression)TPMT
Human Protein AtlasENSG00000137364-TPMT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51580   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51580  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51580
Splice isoforms : SwissVarP51580
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 ]   
PhosPhoSitePlusP51580
Domaine pattern : Prosite (Expaxy)SAM_MT_TPMT (PS51585)   
Domains : Interpro (EBI)SAM-dependent_MTases    Thiopurine_S-MeTrfase    TPMT   
Domain families : Pfam (Sanger)TPMT (PF05724)   
Domain families : Pfam (NCBI)pfam05724   
Conserved Domain (NCBI)TPMT
DMDM Disease mutations7172
Blocks (Seattle)TPMT
PDB (SRS)2BZG    2H11   
PDB (PDBSum)2BZG    2H11   
PDB (IMB)2BZG    2H11   
PDB (RSDB)2BZG    2H11   
Structural Biology KnowledgeBase2BZG    2H11   
SCOP (Structural Classification of Proteins)2BZG    2H11   
CATH (Classification of proteins structures)2BZG    2H11   
SuperfamilyP51580
Human Protein Atlas [tissue]ENSG00000137364-TPMT [tissue]
Peptide AtlasP51580
HPRD01760
IPIIPI00019400   
Protein Interaction databases
DIP (DOE-UCLA)P51580
IntAct (EBI)P51580
FunCoupENSG00000137364
BioGRIDTPMT
STRING (EMBL)TPMT
ZODIACTPMT
Ontologies - Pathways
QuickGOP51580
Ontology : AmiGOcytosol  nucleobase-containing compound metabolic process  thiopurine S-methyltransferase activity  methylation  extracellular exosome  
Ontology : EGO-EBIcytosol  nucleobase-containing compound metabolic process  thiopurine S-methyltransferase activity  methylation  extracellular exosome  
Pathways : KEGGDrug metabolism - other enzymes   
NDEx NetworkTPMT
Atlas of Cancer Signalling NetworkTPMT
Wikipedia pathwaysTPMT
Orthology - Evolution
OrthoDB7172
GeneTree (enSembl)ENSG00000137364
Phylogenetic Trees/Animal Genes : TreeFamTPMT
HOVERGENP51580
HOGENOMP51580
Homologs : HomoloGeneTPMT
Homology/Alignments : Family Browser (UCSC)TPMT
Gene fusions - Rearrangements
Fusion : MitelmanKIF13A/TPMT [6p22.3/6p22.3]  [t(6;6)(p22;p22)]  
Fusion : MitelmanNF1/TPMT [17q11.2/6p22.3]  [t(6;17)(p22;q11)]  
Fusion : MitelmanRANBP9/TPMT [6p23/6p22.3]  [t(6;6)(p22;p23)]  
Fusion: TCGA_MDACCKIF13A 6p22.3 TPMT 6p22.3 BRCA
Fusion: TCGA_MDACCNF1 17q11.2 TPMT 6p22.3 OV
Fusion: TCGA_MDACCRANBP9 6p23 TPMT 6p22.3 BRCA
Tumor Fusion PortalTPMT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPMT
dbVarTPMT
ClinVarTPMT
1000_GenomesTPMT 
Exome Variant ServerTPMT
ExAC (Exome Aggregation Consortium)ENSG00000137364
GNOMAD BrowserENSG00000137364
Genetic variants : HAPMAP7172
Genomic Variants (DGV)TPMT [DGVbeta]
DECIPHERTPMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTPMT 
Mutations
ICGC Data PortalTPMT 
TCGA Data PortalTPMT 
Broad Tumor PortalTPMT
OASIS PortalTPMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPMT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPMT
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
BioMutasearch TPMT
DgiDB (Drug Gene Interaction Database)TPMT
DoCM (Curated mutations)TPMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPMT (select a term)
intoGenTPMT
Cancer3DTPMT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM187680    610460   
Orphanet915    19358    23063   
DisGeNETTPMT
MedgenTPMT
Genetic Testing Registry TPMT
NextProtP51580 [Medical]
TSGene7172
GENETestsTPMT
Target ValidationTPMT
Huge Navigator TPMT [HugePedia]
snp3D : Map Gene to Disease7172
BioCentury BCIQTPMT
ClinGenTPMT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7172
Chemical/Pharm GKB GenePA356
Clinical trialTPMT
Miscellaneous
canSAR (ICR)TPMT (select the gene name)
Probes
Litterature
PubMed258 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPMT
EVEXTPMT
GoPubMedTPMT
iHOPTPMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:39:24 CET 2017

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