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THBS1 (thrombospondin-1)

Written2005-05David D Roberts
Biochemical Pathology Section, Laboratory of Pathology, CCR, NCI, Bethesda, Maryland 20892, USA

(Note : for Links provided by Atlas : click)

Identity

Other namesTSP1
platelet glycoprotein G
HGNC (Hugo) THBS1
LocusID (NCBI) 7057
Atlas_Id 42548
Location 15q14  [Link to chromosome band 15q14]
Location_base_pair Starts at 39873280 and ends at 39891121 bp from pter ( according to hg19-Feb_2009)  [Mapping THBS1.png]
Local_order Telomeric to FLJ39531, centromeric to FSIP1 (fibrous sheath interacting protein 1)
Fusion genes
(updated 2016)
CIDEC (3p25.3) / THBS1 (15q14)CWC22 (2q31.3) / THBS1 (15q14)DHCR24 (1p32.3) / THBS1 (15q14)
SEPT9 (17q25.2) / THBS1 (15q14)SGCB (4q12) / THBS1 (15q14)SUN2 (22q13.1) / THBS1 (15q14)
THBS1 (15q14) / AGBL1 (15q25.3)THBS1 (15q14) / AKAP2 (9q31.3)THBS1 (15q14) / NRG1 (8p12)
THBS1 (15q14) / PRPF8 (17p13.3)THBS1 (15q14) / THBS1 (15q14)THBS1 (15q14) / ZNF587 (19q13.43)
TSPYL2 (Xp11.22) / THBS1 (15q14)ZMIZ2 (7p13) / THBS1 (15q14)

DNA/RNA

 
  Intron-exon organization of the THBS1 gene.
Description The THBS1 gene is 16,393 bases in size and is composed of 22 exons. Exons 2-21 encode the 5729 b mRNA.
Transcription Egr-1 and Sp1 sites function in the constitutive transcription of THBS1 stimulated by serum. Transcription is regulated by c-Jun/AP-1 in cooperation with the repressor Yin Yang-1 (YY-1) and by p53. USF2 mediates glucose-induced TSP1 transcription. Id1 represses transcription. The ATF-1 transcription factor also down-regulates transcription of TSP1 through an ATF/cAMP-responsive element-binding protein binding site. In contrast, Myc increases turnover of thrombospondin-1 mRNA. Transcription of THBS1 in some human cancers is suppressed through hypermethylation.
Pseudogene none described

Protein

 
  Domain organization and localization of selected ligand binding sites in TSP1. TSP1 is a homotrimer linked via disulfide bonds.
Description The TSP1 precursor contains 1170 amino acids; 129,412 Da. The mature secreted protein comprises residues 19-1170 and assembles into a disulfide linked homotrimer. Secreted TSP1 is a glycoprotein with a molecular mass of 150-180 kDa that contains approximately 12 Asn-linked mono-, bi- tri-, and tetraantennary complex oligosaccharides and variable numbers of C-mannosylated Trp residues in the type 1 repeats.
Expression TSP1 is expressed in many tissues during embryonic development but has limited expression in the healthy adult. TSP1 is the most abundant protein in alpha granules of platelets, but normal plasma levels are very low (typically 100-200 ng/ml). Expression in other cell types is induced by wounding, during tissue remodeling, in atherosclerotic lesions, rheumatoid synovium, glomerulonephritis, and in stroma of many tumors. Conversely, most but not all malignant cells in tumors exhibit loss of TSP1 expression during malignant progression. This loss is due to diminished positive regulation of the THBS1 gene by suppressor genes such as p53 and NM23 and increased negative regulation by oncogenes including Ras and Myc. TSP1 expression is induced by TGF-beta, vitamin A, progesterone, and retinoids and suppressed by nickel, Id1, and hepatocyte growth factor. TSP1 expression in the epidermis of skin is suppressed following exposure to UV irradiation.
Localisation TSP1 is secreted and present transiently in extracellular matrix but is rapidly internalized for degradation by fibroblasts and endothelial cells. TSP1 is abundant in megakaryocytes and platelets and is constitutively expressed at the dermal-epidermal boundary in skin and in subendothelial matrix of some blood vessels.
Function TSP1 binds to extracellular matrix ligands including fibrinogen, fibronectin, some collagens, latent and active transforming growth factor-beta-1, TSG6, heparin, plasmin, cathepsin G, neutrophil elastase, some MMPs, tissue factor pathway inhibitor, and heparan sulfate proteoglycans. TSP1 binds to cell surface receptors including CD36, CD47, some syndecans, LDL receptor-related protein-1 (via calreticulin) and the integrins alpha-V/beta-3, alpha-3/beta-1, alpha-4/beta-1, and alpha-6/beta-1. TSP1 is a slow tight inhibitor of plasmin, cathepsin G, and neutrophil elastase. TSP1 directly binds and activates latent TGF-beta-1.
TSP1 in a context-dependent and cell-specific manner stimulates or inhibits cell adhesion, proliferation, motility, and survival. TSP1 is a potent inhibitor of angiogenesis, but N-terminal proteolytic and recombinant parts of TSP1 have clear pro-angiogenic activities mediated by beta-1 integrins. In the immune system, TSP1 is a potent inhibitor of T cell and dendritic cell activation and mediates clearance of apoptotic cells by phagocytes. In the CNS, TSP1 secreted by astrocytes promotes synaptogenesis.
Based on studies of TSP1 null mice, platelet TSP1 is not essential for platelet aggregation, but TSP1 null mice have impaired wound repair, increased retinal angiogenesis, and are hyper-responsive to several inflammatory stimuli.
Homology TSP1 is a member of the thrombospondin family that also contains thrombospondin-2, -3, -4, and cartilage oligomeric matrix protein (COMP). The central type 1 repeats are also known as thrombospondin-repeats and are shared with the larger thrombospondin/properdin repeat superfamily.

Mutations

Germinal
  • a2210g (Asn700Ser) premature familial myocardial infarction; alters Ca-binding to TSP1.
  • g1678a (Thr523Ser) genetic risk factor of cerebral thrombosis in a Chinese population.
  • Implicated in

    Note
    Entity various cancers
    Disease associated with local invasive behavior, tumor neovascularization, and metastasis.
    Prognosis Decreased TSP1 expression has been correlated with malignant progression and decreased survival in several cancers. To date, the strongest data is for colorectal carcinomas. Five independent studies involving more than 400 patients have shown significant association of reduced TSP1 expression with increased invasion, microvascular densities, and poor prognosis.
    More limited studies have shown associations of decreased TSP1 with poor prognosis in squamous non-small cell lung carcinoma, pancreatic adenocarcinoma, invasive cervical carcinoma, and oral squamous cell carcinomas.
    TSP1 is generally not a useful prognostic factor in breast or prostate cancers, although one study of 58 breast DCIS showed loss of stromal TSP1 in DCIS with more aggressive histological features. Recent evidence indicates that the failure of TSP1 to protect in most breast cancers is due to an escape mechanism involving increased VEGF expression. Finally, TSP1 was positively correlated with invasion in hepatocellular and ovarian carcinomas.
    Oncogenesis Mutation of THBS1 has not been reported in cancers, but loss of THBS1 expression due to hypermethylation, transcriptional regulation by oncogenes or tumor suppressor genes, or altered mRNA stability has been reported in many cancers. Transgenic mouse models support the tumor suppressor activity of THBS1. Mice lacking TSP1 develop tumors earlier in a p53 null background. Conversely, transgenic mice overexpressing TSP1 in skin or mammary tissue are resistant to chemical or oncogene-driven carcinogenesis.
      

    Bibliography

    Structure and chromosomal localization of the human thrombospondin gene.
    Wolf FW, Eddy RL, Shows TB, Dixit VM
    Genomics. 1990 ; 6 (4) : 685-691.
    PMID 2341158
     
    Coronary artery disease and the thrombospondin single nucleotide polymorphisms.
    Stenina OI, Byzova TV, Adams JC, McCarthy JJ, Topol EJ, Plow EF
    The international journal of biochemistry & cell biology. 2004 ; 36 (6) : 1013-1030.
    PMID 15094117
     
    [Correlation of thrombospondin-1 G1678A polymorphism to stroke: a study in Chinese population]
    Liu XN, Song L, Wang DW, Liao YH, Ma AQ, Zhu ZM, Zhao BR, Zhao JZ, Hui RT
    Zhonghua yi xue za zhi. 2004 ; 84 (23) : 1959-1962.
    PMID 15730804
     
    Expression of thrombospondin-1 inversely correlated with tumor vascularity and hematogenous metastasis in colon cancer.
    Maeda K, Nishiguchi Y, Kang SM, Yashiro M, Onoda N, Sawada T, Ishikawa T, Hirakawa K
    Oncology reports. 2001 ; 8 (4) : 763-766.
    PMID 11410779
     
    Thrombospondin 1 protein expression relates to good prognostic indices in ductal carcinoma in situ of the breast.
    Rice AJ, Steward MA, Quinn CM
    Journal of clinical pathology. 2002 ; 55 (12) : 921-925.
    PMID 12461058
     
    Expression and role of thrombospondin-1 in colorectal cancer.
    Miyanaga K, Kato Y, Nakamura T, Matsumura M, Amaya H, Horiuchi T, Chiba Y, Tanaka K
    Anticancer research. 2002 ; 22 (6C) : 3941-3948.
    PMID 12553016
     
    Human breast tumors override the antiangiogenic effect of stromal thrombospondin-1 in vivo.
    Fontana A, Filleur S, Guglielmi J, Frappart L, Bruno-Bossio G, Boissier S, Cabon F, Clézardin P
    International journal of cancer. Journal international du cancer. 2005 ; 116 (5) : 686-691.
    PMID 15838828
     
    Clinical significance of thrombospondin 1 expression in hepatocellular carcinoma.
    Poon RT, Chung KK, Cheung ST, Lau CP, Tong SW, Leung KL, Yu WC, Tuszynski GP, Fan ST
    Clinical cancer research : an official journal of the American Association for Cancer Research. 2004 ; 10 (12 Pt 1) : 4150-4157.
    PMID 15217952
     
    Thrombospondin-1 expression in relation to p53 status and VEGF expression in human breast cancers.
    Linderholm B, Karlsson E, Klaar S, Lindahl T, Borg AL, Elmberger G, Bergh J
    European journal of cancer (Oxford, England : 1990). 2004 ; 40 (16) : 2417-2423.
    PMID 15519514
     
    Methylation and silencing of the Thrombospondin-1 promoter in human cancer.
    Li Q, Ahuja N, Burger PC, Issa JP
    Oncogene. 1999 ; 18 (21) : 3284-3289.
    PMID 10359534
     
    Id1 regulates angiogenesis through transcriptional repression of thrombospondin-1.
    Volpert OV, Pili R, Sikder HA, Nelius T, Zaichuk T, Morris C, Shiflett CB, Devlin MK, Conant K, Alani RM
    Cancer cell. 2002 ; 2 (6) : 473-483.
    PMID 12498716
     
    Methylation-associated silencing of the thrombospondin-1 gene in human neuroblastoma.
    Yang QW, Liu S, Tian Y, Salwen HR, Chlenski A, Weinstein J, Cohn SL
    Cancer research. 2003 ; 63 (19) : 6299-6310.
    PMID 14559817
     
    Thrombospondin-1 gene expression affects survival and tumor spectrum of p53-deficient mice.
    Lawler J, Miao WM, Duquette M, Bouck N, Bronson RT, Hynes RO
    The American journal of pathology. 2001 ; 159 (5) : 1949-1956.
    PMID 11696456
     
    Novel integrin antagonists derived from thrombospondins.
    Calzada MJ, Roberts DD
    Current pharmaceutical design. 2005 ; 11 (7) : 849-866.
    PMID 15777239
     
    Functional regulation of T lymphocytes by modulatory extracellular matrix proteins.
    Kuznetsova SA, Roberts DD
    The international journal of biochemistry & cell biology. 2004 ; 36 (6) : 1126-1134.
    PMID 15094127
     

    Citation

    This paper should be referenced as such :
    Roberts, DD
    THBS1 (thrombospondin-1)
    Atlas Genet Cytogenet Oncol Haematol. 2005;9(3):231-233.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/THBS1ID42548ch15q15.html


    External links

    Nomenclature
    HGNC (Hugo)THBS1   11785
    Cards
    AtlasTHBS1ID42548ch15q15
    Entrez_Gene (NCBI)THBS1  7057  thrombospondin 1
    AliasesTHBS; THBS-1; TSP; TSP-1; 
    TSP1
    GeneCards (Weizmann)THBS1
    Ensembl hg19 (Hinxton)ENSG00000137801 [Gene_View]  chr15:39873280-39891121 [Contig_View]  THBS1 [Vega]
    Ensembl hg38 (Hinxton)ENSG00000137801 [Gene_View]  chr15:39873280-39891121 [Contig_View]  THBS1 [Vega]
    ICGC DataPortalENSG00000137801
    TCGA cBioPortalTHBS1
    AceView (NCBI)THBS1
    Genatlas (Paris)THBS1
    WikiGenes7057
    SOURCE (Princeton)THBS1
    Genomic and cartography
    GoldenPath hg19 (UCSC)THBS1  -     chr15:39873280-39891121 +  15q15   [Description]    (hg19-Feb_2009)
    GoldenPath hg38 (UCSC)THBS1  -     15q15   [Description]    (hg38-Dec_2013)
    EnsemblTHBS1 - 15q15 [CytoView hg19]  THBS1 - 15q15 [CytoView hg38]
    Mapping of homologs : NCBITHBS1 [Mapview hg19]  THBS1 [Mapview hg38]
    OMIM188060   
    Gene and transcription
    Genbank (Entrez)AB209912 AI147670 AI168683 AI290070 AK291639
    RefSeq transcript (Entrez)NM_003246
    RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929398
    Consensus coding sequences : CCDS (NCBI)THBS1
    Cluster EST : UnigeneHs.732539 [ NCBI ]
    CGAP (NCI)Hs.732539
    Alternative Splicing GalleryENSG00000137801
    Gene ExpressionTHBS1 [ NCBI-GEO ]   THBS1 [ EBI - ARRAY_EXPRESS ]   THBS1 [ SEEK ]   THBS1 [ MEM ]
    Gene Expression Viewer (FireBrowse)THBS1 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)7057
    GTEX Portal (Tissue expression)THBS1
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP07996 (Uniprot)
    NextProtP07996  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProP07996
    Splice isoforms : SwissVarP07996 (Swissvar)
    PhosPhoSitePlusP07996
    Domaine pattern : Prosite (Expaxy)EGF_2 (PS01186)    EGF_3 (PS50026)    TSP1 (PS50092)    TSP3 (PS51234)    TSP_CTER (PS51236)    VWFC_1 (PS01208)    VWFC_2 (PS50184)   
    Domains : Interpro (EBI)ConA-like_dom    EGF-like_CS    EGF-like_dom    Laminin_G    Thrombospondin-1    Thrombospondin_3-like_rpt    Thrombospondin_3_rpt    Thrombospondin_C    TSP1_rpt    TSP_type-3_rpt    VWF_dom   
    Domain families : Pfam (Sanger)TSP_1 (PF00090)    TSP_3 (PF02412)    TSP_C (PF05735)    VWC (PF00093)   
    Domain families : Pfam (NCBI)pfam00090    pfam02412    pfam05735    pfam00093   
    Domain families : Smart (EMBL)EGF (SM00181)  TSP1 (SM00209)  TSPN (SM00210)  VWC (SM00214)  
    DMDM Disease mutations7057
    Blocks (Seattle)THBS1
    PDB (SRS)1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    PDB (PDBSum)1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    PDB (IMB)1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    PDB (RSDB)1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    Structural Biology KnowledgeBase1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    SCOP (Structural Classification of Proteins)1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    CATH (Classification of proteins structures)1LSL    1UX6    1Z78    1ZA4    2ERF    2ES3    2OUH    2OUJ    3R6B    5FOE   
    SuperfamilyP07996
    Human Protein AtlasENSG00000137801
    Peptide AtlasP07996
    HPRD01765
    IPIIPI00296099   IPI00909182   IPI00796249   
    Protein Interaction databases
    DIP (DOE-UCLA)P07996
    IntAct (EBI)P07996
    FunCoupENSG00000137801
    BioGRIDTHBS1
    STRING (EMBL)THBS1
    ZODIACTHBS1
    Ontologies - Pathways
    QuickGOP07996
    Ontology : AmiGOactivation of MAPK activity  response to hypoxia  phosphatidylserine binding  negative regulation of endothelial cell proliferation  negative regulation of endothelial cell proliferation  glycoprotein binding  negative regulation of cell-matrix adhesion  fibronectin binding  sprouting angiogenesis  chronic inflammatory response  platelet degranulation  negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II  negative regulation of dendritic cell antigen processing and presentation  integrin binding  calcium ion binding  protein binding  extracellular region  fibrinogen complex  extracellular space  endoplasmic reticulum  endoplasmic reticulum lumen  inflammatory response  immune response  response to unfolded protein  cell cycle arrest  cell adhesion  heparin binding  response to glucose  external side of plasma membrane  cell surface  positive regulation of endothelial cell migration  negative regulation of endothelial cell migration  negative regulation of plasma membrane long-chain fatty acid transport  negative regulation of nitric oxide mediated signal transduction  negative regulation of cGMP-mediated signaling  negative regulation of plasminogen activation  positive regulation of macrophage chemotaxis  positive regulation of fibroblast migration  cell migration  negative regulation of angiogenesis  sarcoplasmic reticulum  fibroblast growth factor binding  peptide cross-linking  secretory granule  low-density lipoprotein particle binding  positive regulation of blood coagulation  extracellular matrix organization  positive regulation of cell migration  positive regulation of cell migration  positive regulation of transforming growth factor beta receptor signaling pathway  regulation of cGMP metabolic process  extracellular matrix  extracellular matrix  extracellular matrix  extracellular matrix  platelet alpha granule  platelet alpha granule lumen  response to magnesium ion  response to progesterone  negative regulation of interleukin-12 production  positive regulation of transforming growth factor beta1 production  cellular response to heat  response to endoplasmic reticulum stress  protein O-linked fucosylation  negative regulation of fibroblast growth factor receptor signaling pathway  positive regulation of phosphorylation  response to drug  positive regulation of tumor necrosis factor biosynthetic process  identical protein binding  positive regulation of macrophage activation  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  laminin binding  proteoglycan binding  positive regulation of blood vessel endothelial cell migration  negative regulation of blood vessel endothelial cell migration  engulfment of apoptotic cell  positive regulation of translation  positive regulation of angiogenesis  behavioral response to pain  transforming growth factor beta binding  transforming growth factor beta binding  positive regulation of chemotaxis  response to calcium ion  negative regulation of focal adhesion assembly  positive regulation of protein kinase B signaling  negative regulation of fibrinolysis  fibrinogen binding  collagen V binding  extracellular exosome  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of endothelial cell apoptotic process  positive regulation of reactive oxygen species metabolic process  negative regulation of endothelial cell chemotaxis  negative regulation of extrinsic apoptotic signaling pathway  
    Ontology : EGO-EBIactivation of MAPK activity  response to hypoxia  phosphatidylserine binding  negative regulation of endothelial cell proliferation  negative regulation of endothelial cell proliferation  glycoprotein binding  negative regulation of cell-matrix adhesion  fibronectin binding  sprouting angiogenesis  chronic inflammatory response  platelet degranulation  negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II  negative regulation of dendritic cell antigen processing and presentation  integrin binding  calcium ion binding  protein binding  extracellular region  fibrinogen complex  extracellular space  endoplasmic reticulum  endoplasmic reticulum lumen  inflammatory response  immune response  response to unfolded protein  cell cycle arrest  cell adhesion  heparin binding  response to glucose  external side of plasma membrane  cell surface  positive regulation of endothelial cell migration  negative regulation of endothelial cell migration  negative regulation of plasma membrane long-chain fatty acid transport  negative regulation of nitric oxide mediated signal transduction  negative regulation of cGMP-mediated signaling  negative regulation of plasminogen activation  positive regulation of macrophage chemotaxis  positive regulation of fibroblast migration  cell migration  negative regulation of angiogenesis  sarcoplasmic reticulum  fibroblast growth factor binding  peptide cross-linking  secretory granule  low-density lipoprotein particle binding  positive regulation of blood coagulation  extracellular matrix organization  positive regulation of cell migration  positive regulation of cell migration  positive regulation of transforming growth factor beta receptor signaling pathway  regulation of cGMP metabolic process  extracellular matrix  extracellular matrix  extracellular matrix  extracellular matrix  platelet alpha granule  platelet alpha granule lumen  response to magnesium ion  response to progesterone  negative regulation of interleukin-12 production  positive regulation of transforming growth factor beta1 production  cellular response to heat  response to endoplasmic reticulum stress  protein O-linked fucosylation  negative regulation of fibroblast growth factor receptor signaling pathway  positive regulation of phosphorylation  response to drug  positive regulation of tumor necrosis factor biosynthetic process  identical protein binding  positive regulation of macrophage activation  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  laminin binding  proteoglycan binding  positive regulation of blood vessel endothelial cell migration  negative regulation of blood vessel endothelial cell migration  engulfment of apoptotic cell  positive regulation of translation  positive regulation of angiogenesis  behavioral response to pain  transforming growth factor beta binding  transforming growth factor beta binding  positive regulation of chemotaxis  response to calcium ion  negative regulation of focal adhesion assembly  positive regulation of protein kinase B signaling  negative regulation of fibrinolysis  fibrinogen binding  collagen V binding  extracellular exosome  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of endothelial cell apoptotic process  positive regulation of reactive oxygen species metabolic process  negative regulation of endothelial cell chemotaxis  negative regulation of extrinsic apoptotic signaling pathway  
    Pathways : BIOCARTATSP-1 Induced Apoptosis in Microvascular Endothelial Cell [Genes]   
    Pathways : KEGGRap1 signaling pathway    p53 signaling pathway    Phagosome    PI3K-Akt signaling pathway    TGF-beta signaling pathway    Focal adhesion    ECM-receptor interaction    Malaria    Proteoglycans in cancer    MicroRNAs in cancer    Bladder cancer   
    REACTOMEP07996 [protein]
    REACTOME PathwaysR-HSA-186797 Signaling by PDGF [pathway]
    REACTOME PathwaysR-HSA-3000170 Syndecan interactions [pathway]
    REACTOME PathwaysR-HSA-114608 Platelet degranulation [pathway]
    REACTOME PathwaysR-HSA-216083 Integrin cell surface interactions [pathway]
    REACTOME PathwaysR-HSA-5173214 O-glycosylation of TSR domain-containing proteins [pathway]
    NDEx Network
    Atlas of Cancer Signalling NetworkTHBS1
    Wikipedia pathwaysTHBS1
    Orthology - Evolution
    OrthoDB7057
    GeneTree (enSembl)ENSG00000137801
    Phylogenetic Trees/Animal Genes : TreeFamTHBS1
    Homologs : HomoloGeneTHBS1
    Homology/Alignments : Family Browser (UCSC)THBS1
    Gene fusions - Rearrangements
    Fusion : MitelmanDHCR24/THBS1 [1p32.3/15q14]  [t(1;15)(p32;q14)]  
    Fusion : MitelmanTHBS1/AGBL1 [15q14/15q25.3]  [t(15;15)(q14;q25)]  
    Fusion: TCGADHCR24 1p32.3 THBS1 15q14 HNSC
    Fusion: TCGATHBS1 15q14 AGBL1 15q25.3 HNSC
    Fusion: TCGATHBS1 15q14 NRG1 8p12 HNSC
    Polymorphisms : SNP, variants
    NCBI Variation ViewerTHBS1 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)THBS1
    dbVarTHBS1
    ClinVarTHBS1
    1000_GenomesTHBS1 
    Exome Variant ServerTHBS1
    ExAC (Exome Aggregation Consortium)THBS1 (select the gene name)
    Genetic variants : HAPMAP7057
    Genomic Variants (DGV)THBS1 [DGVbeta]
    Mutations
    ICGC Data PortalTHBS1 
    TCGA Data PortalTHBS1 
    Broad Tumor PortalTHBS1
    OASIS PortalTHBS1 [ Somatic mutations - Copy number]
    Somatic Mutations in Cancer : COSMICTHBS1 
    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 THBS1
    DgiDB (Drug Gene Interaction Database)THBS1
    DoCM (Curated mutations)THBS1 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)THBS1 (select a term)
    intoGenTHBS1
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
    Diseases
    DECIPHER (Syndromes)15:39873280-39891121  ENSG00000137801
    CONAN: Copy Number AnalysisTHBS1 
    Mutations and Diseases : HGMDTHBS1
    OMIM188060   
    MedgenTHBS1
    Genetic Testing Registry THBS1
    NextProtP07996 [Medical]
    TSGene7057
    GENETestsTHBS1
    Huge Navigator THBS1 [HugePedia]
    snp3D : Map Gene to Disease7057
    BioCentury BCIQTHBS1
    ClinGenTHBS1
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD7057
    Chemical/Pharm GKB GenePA36497
    Clinical trialTHBS1
    Miscellaneous
    canSAR (ICR)THBS1 (select the gene name)
    Probes
    Litterature
    PubMed405 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineTHBS1
    EVEXTHBS1
    GoPubMedTHBS1
    iHOPTHBS1
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Search in all EBI   NCBI

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