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THTPA (thiamine triphosphatase)

Identity

Alias_symbol (synonym)THTPASE
Other aliasTHTP
HGNC (Hugo) THTPA
LocusID (NCBI) 79178
Atlas_Id 74689
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23555982 and ends at 23559581 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)
DSCAML1 (11q23.3) / THTPA (14q11.2)MAN1C1 (1p36.11) / THTPA (14q11.2)THTPA (14q11.2) / AP1G2 (14q11.2)

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)THTPA   18987
Cards
Entrez_Gene (NCBI)THTPA  79178  thiamine triphosphatase
AliasesTHTP; THTPASE
GeneCards (Weizmann)THTPA
Ensembl hg19 (Hinxton)ENSG00000259431 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000259431 [Gene_View]  chr14:23555982-23559581 [Contig_View]  THTPA [Vega]
ICGC DataPortalENSG00000259431
TCGA cBioPortalTHTPA
AceView (NCBI)THTPA
Genatlas (Paris)THTPA
WikiGenes79178
SOURCE (Princeton)THTPA
Genetics Home Reference (NIH)THTPA
Genomic and cartography
GoldenPath hg38 (UCSC)THTPA  -     chr14:23555982-23559581 +  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)THTPA  -     14q11.2   [Description]    (hg19-Feb_2009)
EnsemblTHTPA - 14q11.2 [CytoView hg19]  THTPA - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBITHTPA [Mapview hg19]  THTPA [Mapview hg38]
OMIM611612   
Gene and transcription
Genbank (Entrez)AF432862 AK057691 AK090747 AK094211 AK098604
RefSeq transcript (Entrez)NM_001126339 NM_001256062 NM_001256321 NM_001256322 NM_001256323 NM_024328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)THTPA
Cluster EST : UnigeneHs.736905 [ NCBI ]
CGAP (NCI)Hs.736905
Alternative Splicing GalleryENSG00000259431
Gene ExpressionTHTPA [ NCBI-GEO ]   THTPA [ EBI - ARRAY_EXPRESS ]   THTPA [ SEEK ]   THTPA [ MEM ]
Gene Expression Viewer (FireBrowse)THTPA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79178
GTEX Portal (Tissue expression)THTPA
Human Protein AtlasENSG00000259431-THTPA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BU02   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BU02  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BU02
Splice isoforms : SwissVarQ9BU02
PhosPhoSitePlusQ9BU02
Domaine pattern : Prosite (Expaxy)CYTH (PS51707)   
Domains : Interpro (EBI)CYTH-like_dom    CYTH_domain    ThTPase   
Domain families : Pfam (Sanger)CYTH (PF01928)   
Domain families : Pfam (NCBI)pfam01928   
Domain families : Smart (EMBL)CYTH (SM01118)  
Conserved Domain (NCBI)THTPA
DMDM Disease mutations79178
Blocks (Seattle)THTPA
PDB (SRS)3BHD    3TVL   
PDB (PDBSum)3BHD    3TVL   
PDB (IMB)3BHD    3TVL   
PDB (RSDB)3BHD    3TVL   
Structural Biology KnowledgeBase3BHD    3TVL   
SCOP (Structural Classification of Proteins)3BHD    3TVL   
CATH (Classification of proteins structures)3BHD    3TVL   
SuperfamilyQ9BU02
Human Protein Atlas [tissue]ENSG00000259431-THTPA [tissue]
Peptide AtlasQ9BU02
HPRD15505
IPIIPI00013621   IPI01026470   IPI01024884   IPI01024762   IPI01025037   
Protein Interaction databases
DIP (DOE-UCLA)Q9BU02
IntAct (EBI)Q9BU02
FunCoupENSG00000259431
BioGRIDTHTPA
STRING (EMBL)THTPA
ZODIACTHTPA
Ontologies - Pathways
QuickGOQ9BU02
Ontology : AmiGOmagnesium ion binding  cytosol  generation of precursor metabolites and energy  thiamine metabolic process  dephosphorylation  hydrolase activity  thiamine diphosphate metabolic process  thiamine-containing compound metabolic process  thiamin-triphosphatase activity  thiamin-triphosphatase activity  
Ontology : EGO-EBImagnesium ion binding  cytosol  generation of precursor metabolites and energy  thiamine metabolic process  dephosphorylation  hydrolase activity  thiamine diphosphate metabolic process  thiamine-containing compound metabolic process  thiamin-triphosphatase activity  thiamin-triphosphatase activity  
Pathways : KEGGThiamine metabolism   
NDEx NetworkTHTPA
Atlas of Cancer Signalling NetworkTHTPA
Wikipedia pathwaysTHTPA
Orthology - Evolution
OrthoDB79178
GeneTree (enSembl)ENSG00000259431
Phylogenetic Trees/Animal Genes : TreeFamTHTPA
HOVERGENQ9BU02
HOGENOMQ9BU02
Homologs : HomoloGeneTHTPA
Homology/Alignments : Family Browser (UCSC)THTPA
Gene fusions - Rearrangements
Fusion: Tumor Portal THTPA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTHTPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)THTPA
dbVarTHTPA
ClinVarTHTPA
1000_GenomesTHTPA 
Exome Variant ServerTHTPA
ExAC (Exome Aggregation Consortium)ENSG00000259431
GNOMAD BrowserENSG00000259431
Genetic variants : HAPMAP79178
Genomic Variants (DGV)THTPA [DGVbeta]
DECIPHERTHTPA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTHTPA 
Mutations
ICGC Data PortalTHTPA 
TCGA Data PortalTHTPA 
Broad Tumor PortalTHTPA
OASIS PortalTHTPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTHTPA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTHTPA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch THTPA
DgiDB (Drug Gene Interaction Database)THTPA
DoCM (Curated mutations)THTPA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)THTPA (select a term)
intoGenTHTPA
Cancer3DTHTPA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611612   
Orphanet
MedgenTHTPA
Genetic Testing Registry THTPA
NextProtQ9BU02 [Medical]
TSGene79178
GENETestsTHTPA
Target ValidationTHTPA
Huge Navigator THTPA [HugePedia]
snp3D : Map Gene to Disease79178
BioCentury BCIQTHTPA
ClinGenTHTPA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79178
Chemical/Pharm GKB GenePA38774
Clinical trialTHTPA
Miscellaneous
canSAR (ICR)THTPA (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTHTPA
EVEXTHTPA
GoPubMedTHTPA
iHOPTHTPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:32:22 CET 2017

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