Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TBXAS1 (thromboxane A synthase 1)

Identity

Alias_namesthromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)
thromboxane A synthase 1 (platelet)
Alias_symbol (synonym)CYP5
CYP5A1
THAS
TXS
TXAS
TS
Other aliasBDPLT14
GHOSAL
HGNC (Hugo) TBXAS1
LocusID (NCBI) 6916
Atlas_Id 46559
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 139829153 and ends at 140020325 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)
NFKB2 (10q24.32) / TBXAS1 (7q34)RPAP2 (1p22.1) / TBXAS1 (7q34)

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)TBXAS1   11609
LRG (Locus Reference Genomic)LRG_579
Cards
Entrez_Gene (NCBI)TBXAS1  6916  thromboxane A synthase 1
AliasesBDPLT14; CYP5; CYP5A1; GHOSAL; 
THAS; TS; TXAS; TXS
GeneCards (Weizmann)TBXAS1
Ensembl hg19 (Hinxton)ENSG00000059377 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000059377 [Gene_View]  ENSG00000059377 [Sequence]  chr7:139829153-140020325 [Contig_View]  TBXAS1 [Vega]
ICGC DataPortalENSG00000059377
TCGA cBioPortalTBXAS1
AceView (NCBI)TBXAS1
Genatlas (Paris)TBXAS1
WikiGenes6916
SOURCE (Princeton)TBXAS1
Genetics Home Reference (NIH)TBXAS1
Genomic and cartography
GoldenPath hg38 (UCSC)TBXAS1  -     chr7:139829153-140020325 +  7q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBXAS1  -     7q34   [Description]    (hg19-Feb_2009)
GoldenPathTBXAS1 - 7q34 [CytoView hg19]  TBXAS1 - 7q34 [CytoView hg38]
ImmunoBaseENSG00000059377
Mapping of homologs : NCBITBXAS1 [Mapview hg19]  TBXAS1 [Mapview hg38]
OMIM231095   274180   614158   
Gene and transcription
Genbank (Entrez)AK223466 AK296069 AK301049 AK301164 AK303440
RefSeq transcript (Entrez)NM_001061 NM_001130966 NM_001166253 NM_001166254 NM_001314028 NM_001366537 NM_001366538 NM_030984
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TBXAS1
Cluster EST : UnigeneHs.520757 [ NCBI ]
CGAP (NCI)Hs.520757
Alternative Splicing GalleryENSG00000059377
Gene ExpressionTBXAS1 [ NCBI-GEO ]   TBXAS1 [ EBI - ARRAY_EXPRESS ]   TBXAS1 [ SEEK ]   TBXAS1 [ MEM ]
Gene Expression Viewer (FireBrowse)TBXAS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6916
GTEX Portal (Tissue expression)TBXAS1
Human Protein AtlasENSG00000059377-TBXAS1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24557   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24557  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24557
Splice isoforms : SwissVarP24557
Catalytic activity : Enzyme5.3.99.5 [ Enzyme-Expasy ]   5.3.99.55.3.99.5 [ IntEnz-EBI ]   5.3.99.5 [ BRENDA ]   5.3.99.5 [ KEGG ]   
PhosPhoSitePlusP24557
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (EBI)Cyt_P450    Cyt_P450_CS    Cyt_P450_E_grp-I    Cyt_P450_sf   
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
Conserved Domain (NCBI)TBXAS1
DMDM Disease mutations6916
Blocks (Seattle)TBXAS1
SuperfamilyP24557
Human Protein Atlas [tissue]ENSG00000059377-TBXAS1 [tissue]
Peptide AtlasP24557
HPRD02035
IPIIPI00924916   IPI00940459   IPI00922101   IPI00788599   IPI00909791   IPI00008967   IPI00927619   IPI00927208   IPI00927015   
Protein Interaction databases
DIP (DOE-UCLA)P24557
IntAct (EBI)P24557
FunCoupENSG00000059377
BioGRIDTBXAS1
STRING (EMBL)TBXAS1
ZODIACTBXAS1
Ontologies - Pathways
QuickGOP24557
Ontology : AmiGOmonooxygenase activity  thromboxane-A synthase activity  thromboxane-A synthase activity  iron ion binding  endoplasmic reticulum membrane  icosanoid metabolic process  integral component of membrane  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen  cyclooxygenase pathway  heme binding  12-hydroxyheptadecatrienoic acid synthase activity  oxidation-reduction process  
Ontology : EGO-EBImonooxygenase activity  thromboxane-A synthase activity  thromboxane-A synthase activity  iron ion binding  endoplasmic reticulum membrane  icosanoid metabolic process  integral component of membrane  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen  cyclooxygenase pathway  heme binding  12-hydroxyheptadecatrienoic acid synthase activity  oxidation-reduction process  
Pathways : KEGGArachidonic acid metabolism   
NDEx NetworkTBXAS1
Atlas of Cancer Signalling NetworkTBXAS1
Wikipedia pathwaysTBXAS1
Orthology - Evolution
OrthoDB6916
GeneTree (enSembl)ENSG00000059377
Phylogenetic Trees/Animal Genes : TreeFamTBXAS1
HOGENOMP24557
Homologs : HomoloGeneTBXAS1
Homology/Alignments : Family Browser (UCSC)TBXAS1
Gene fusions - Rearrangements
Fusion : QuiverTBXAS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBXAS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBXAS1
dbVarTBXAS1
ClinVarTBXAS1
1000_GenomesTBXAS1 
Exome Variant ServerTBXAS1
ExAC (Exome Aggregation Consortium)ENSG00000059377
GNOMAD BrowserENSG00000059377
Varsome BrowserTBXAS1
Genetic variants : HAPMAP6916
Genomic Variants (DGV)TBXAS1 [DGVbeta]
DECIPHERTBXAS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBXAS1 
Mutations
ICGC Data PortalTBXAS1 
TCGA Data PortalTBXAS1 
Broad Tumor PortalTBXAS1
OASIS PortalTBXAS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBXAS1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBXAS1
Mutations and Diseases : HGMDTBXAS1
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
BioMutasearch TBXAS1
DgiDB (Drug Gene Interaction Database)TBXAS1
DoCM (Curated mutations)TBXAS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TBXAS1 (select a term)
intoGenTBXAS1
Cancer3DTBXAS1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM231095    274180    614158   
Orphanet1798   
DisGeNETTBXAS1
MedgenTBXAS1
Genetic Testing Registry TBXAS1
NextProtP24557 [Medical]
TSGene6916
GENETestsTBXAS1
Target ValidationTBXAS1
Huge Navigator TBXAS1 [HugePedia]
snp3D : Map Gene to Disease6916
BioCentury BCIQTBXAS1
ClinGenTBXAS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6916
Chemical/Pharm GKB GenePA349
Clinical trialTBXAS1
Miscellaneous
canSAR (ICR)TBXAS1 (select the gene name)
DataMed IndexTBXAS1
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTBXAS1
EVEXTBXAS1
GoPubMedTBXAS1
iHOPTBXAS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Aug 26 18:31:47 CEST 2019
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