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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TGFB1 Gene

protein-coding   GIFtS: 74
GCID: GC19M041837

Transforming Growth Factor, Beta 1


(Previous symbols: TGFB, DPD1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transforming Growth Factor, Beta 11 2     LAP2
TGFB1 2 3     TGFbeta2
DPD11 2 5     Latency-Associated Peptide2
TGF-beta-12 3     TGF-Beta 1 Protein2
CED2 5     Transforming Growth Factor Beta-12
Camurati-Engelmann Disease1     

External Ids:    HGNC: 117661   Entrez Gene: 70402   Ensembl: ENSG000001053297   OMIM: 1901805   UniProtKB: P011373   

Export aliases for TGFB1 gene to outside databases

Previous GC identifers: GC19M042475 GC19M042227 GC19M046484 GC19M046528 GC19M038268


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TGFB1 Gene:
This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are
multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions
in many cell types. Many cells have TGFB receptors, and the protein positively and negatively regulates many
other growth factors. The secreted protein is cleaved into a latency-associated peptide (LAP) and a mature TGFB1
peptide, and is found in either a latent form composed of a TGFB1 homodimer, a LAP homodimer, and a latent
TGFB1-binding protein, or in an active form composed of a TGFB1 homodimer. The mature peptide may also form
heterodimers with other TGFB family members. This gene is frequently upregulated in tumor cells, and mutations in
this gene result in Camurati-Engelmann disease.(provided by RefSeq, Oct 2009)

GeneCards Summary for TGFB1 Gene: 
TGFB1 (transforming growth factor, beta 1) is a protein-coding gene. Diseases associated with TGFB1 include camurati-engelmann disease, and communicating hydrocephalus, and among its related super-pathways are ACE Inhibitor Pathway and Cell cycle. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell
types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates
many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of
osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts

Gene Wiki entry for TGFB1 (TGF beta 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TGFB1 gene promoter:
         AhR   MAZR   p53   Nkx2-5   AP-2gamma   Arnt   PPAR-gamma1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGFB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TGFB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGFB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

TGFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFB1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041837:  view genomic region     (about GC identifiers)

Start:
41,807,492 bp from pter      End:
41,859,831 bp from pter
Size:
52,340 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137 (See protein sequence)
Recommended Name: Transforming growth factor beta-1 precursor  
Size: 390 amino acids; 44341 Da
Subunit: Homodimer; disulfide-linked, or heterodimer with TGFB2 (By similarity). Secreted and stored as a
biologically inactive form in the extracellular matrix in a 290 kDa complex (large latent TGF-beta1 complex)
containing the TGFB1 homodimer, the latency-associated peptide (LAP), and the latent TGFB1 binding protein-1
(LTBP1). The complex without LTBP1 is known as the'small latent TGF-beta1 complex'. Dissociation of the TGFB1
from LAP is required for growth factor activation and biological activity. Release of the large latent TGF-beta1
complex from the extracellular matrix is carried out by the matrix metalloproteinase MMP3 (By similarity). May
interact with THSD4; this interaction may lead to sequestration by FBN1 microfibril assembly and attenuation of
TGFB signaling. Interacts with the serine proteases, HTRA1 and HTRA3: the interaction with either inhibits
TGFB1-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity).
Latency-associated peptide interacts with NREP; the interaction results in a decrease in TGFB1 autoinduction (By
similarity). Interacts with CD109, DPT and ASPN
Subcellular location: Secreted, extracellular space, extracellular matrix
4 PDB 3D structures from and Proteopedia for TGFB1:
1KLA (3D)        1KLC (3D)        1KLD (3D)        3KFD (3D)    
Secondary accessions: A8K792 Q9UCG4

Explore the universe of human proteins at neXtProt for TGFB1: NX_P01137

Explore proteomics data for TGFB1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • UniProtKB: The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to mature TGF-beta-1
    rendering it inactive
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01137

  • TGFB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TGFB1 Protein Expression
    REFSEQ proteins: NP_000651.3  
    ENSEMBL proteins: 
     ENSP00000472767   ENSP00000221930  
    Reactome Protein details: P01137
    Human Recombinant Protein Products for TGFB1: 
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    R&D Systems Recombinant & Natural Proteins for TGFB1 (TGF-beta 1)
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    OriGene Purified Protein for TGFB1
    OriGene Protein Over-expression Lysate for TGFB1
    OriGene MassSpec for TGFB1 
    OriGene Custom Protein Services for TGFB1
    GenScript Custom Purified and Recombinant Proteins Services for TGFB1
    Novus Biologicals TGFB1 Proteins
    Novus Biologicals TGFB1 Lysates
    Sino Biological Recombinant Protein for TGFB1
    Sino Biological Cell Lysate for TGFB1 
    ProSpec Recombinant Protein for TGFB1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ISS--
    GO:0005615extracellular space IDA19734317
    GO:0005634nucleus IDA18040277
    GO:0005737cytoplasm IDA18040277

    TGFB1 for ontologies           About GeneDecksing



    TGFB1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for TGFB1 

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR001111 TGF-b_N
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS
     IPR015615 TGF-beta-rel
     IPR003939 TGFb1

    Graphical View of Domain Structure for InterPro Entry P01137

    ProtoNet protein and cluster: P01137

    5 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature
    IPB003911 Transforming growth factor beta precursor signature
    IPB003939 Transforming growth factor beta 1 precursor signature


    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Domain: The 'straitjacket' and 'arm' domains encircle the growth factor monomers and are fastened together by
    strong bonding between Lys-56 and Tyr-103/Tyr-104. Activation of TGF-beta1 requires the binding of integrin
    alpha-V to an RGD sequence in the prodomain and exertion of force on this domain, which is held in the
    extracellular matrix by latent TGF-beta binding proteins. The sheer physical force unfastens the straitjacket and
    releases the active growth factor dimer (By similarity)
    Similarity: Belongs to the TGF-beta family


    TGFB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGFB1_HUMAN, P01137
    Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell
    types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates
    many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of
    osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts
    Induction: Activated in vitro at pH below 3.5 and over 12.5

         Genatlas biochemistry entry for TGFB1:
    transforming growth factor,beta 1,152.6kDa,homodimerizing,expressed by
    fibroblast,platelet,monocyte,chondrocyte,osteoblasts,stimulating articular chondrocyte cell growth through MAPK3
    activation,including the latency associated peptide (LAP),involved in the growth inhibition suppression by the
    complex Rb/Bog,may be implicated in susceptibility to atherosclerosis,bone diseases or various forms of
    cancer,regarding the presence of particular alleles at the locus

         Summary:
    During embryonic development, TGFB1 as signaling molecule is secreted from the following cells: Early Ameloblasts in Dental Enamel, Extraembryonic Angioblasts in Extraembryonic Blood Islands (see all 8).

    It affects the following cells: Ameloblasts in Dental Enamel, Extraembryonic Mural Cells in Extraembryonic Mesoderm (see all 12).

    TGFB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Chondrocytes from Cartilage, Smooth muscle-like cells from Smooth Muscle (see all).

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005114type II transforming growth factor beta receptor binding IPI1333888
    GO:0005160transforming growth factor beta receptor binding ----
    GO:0005515protein binding IPI10092230
    GO:0008083growth factor activity IEA--
    GO:0019899enzyme binding IPI19366691
         
    TGFB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TGFB1:
     Decreased viability with pacli 

         15/22 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Tgfb1) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    TGFB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TGFB1: Tgfb1tm1Doe Tgfb1tm1N

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TGFB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TGFB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGFB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGFB1 

    miRNA
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    miRTarBase miRNAs that target TGFB1:
    hsa-mir-24 (MIRT005918)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFB1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFB1:
    hsa-miR-663 hsa-miR-3180-3p hsa-miR-1908 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmidTGFB1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    OriGene ORF clones in mouse, rat for TGFB1
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    GenScript: all cDNA clones in your preferred vector: TGFB1 (NM_000660)
    Sino Biological Human cDNA Clone for TGFB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1
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                         Customized lentivirus expression plasmids for stable overexpression of TGFB1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TGFB1 About   (see all 94)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway0.85
    ACE Inhibitor Pathway, Pharmacodynamics0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.85
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    4PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    Cytokine-cytokine receptor interaction0.43
    5Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 EMD Millipore Pathways for TGFB1
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Development TGF-beta receptor signaling
    Translation Regulation activity of EIF4F
    Cell adhesion Plasmin signaling

    5/6 R&D Systems Pathways for TGFB1 (see all 6)
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation
    TGF-beta Signaling Pathways

    5/69 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TGFB1 (see all 69)
        Telomerase Components in Cell Signaling
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    2 Cell Signaling Technology (CST) Pathways for TGFB1
        Angiogenesis
    TGF-beta/Smad Signaling

    5/6 GeneGo (Thomson Reuters) Pathways for TGFB1 (see all 6)
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Cell adhesion Plasmin signaling
    Cytokine production by Th17 cells in CF (Mouse model)
    Translation Regulation of EIF4F activity

    5/26 BioSystems Pathways for TGFB1 (see all 26)
        ACE Inhibitor Pathway
    MAPK signaling pathway
    Cytokines and Inflammatory Response
    MicroRNAs in cardiomyocyte hypertrophy
    Senescence and Autophagy

    1 Sino Biological Pathway for TGFB1 
        TGF-beta Signaling Pathway

    5/19        Reactome Pathways for TGFB1 (see all 19)
        TGF-beta receptor signaling activates SMADs
    Elastic fibre formation
    Response to elevated platelet cytosolic Ca2+
    Disease
    Host Interactions with Influenza Factors

    3 PharmGKB Pathways for TGFB1
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    5/27         Kegg Pathways  (Kegg details for TGFB1) (see all 27):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    Cell cycle
    Endocytosis
    TGF-beta signaling pathway


    TGFB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGFB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/188 Interacting proteins for TGFB1 (P011371, 2, 3 ENSP000002219304) via UniProtKB, MINT, STRING, and/or I2D (see all 188)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371731, 2, 3, ENSP000003519054EBI-779636,EBI-296151 MINT-7990932 MINT-8044787 I2D: score=5 STRING: ENSP00000351905
    DIP2AQ146892, 3, ENSP000003920664MINT-7990981 MINT-7991013 I2D: score=1 STRING: ENSP00000392066
    APPP050671, 3, ENSP000002849814EBI-779636,EBI-77613 I2D: score=3 STRING: ENSP00000284981
    TGFBR3Q031671, 3, ENSP000002123554EBI-779636,EBI-2852679 I2D: score=3 STRING: ENSP00000212355
    DAXXQ9UER73, ENSP000003968764I2D: score=1 STRING: ENSP00000396876
    About this table

    Gene Ontology (GO): 5/161 biological process terms (GO ID links to tree view) (see all 161):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IDA--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000165MAPK cascade IMP--
    GO:0001657ureteric bud development IEA--
    GO:0001666response to hypoxia IEA--

    TGFB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TGFB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TGFB1

    1 DrugBank Compound for TGFB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HyaluronidaseHYAL-1 (see all 5)488712-31-8targetinhibitor9850732 11327694 7648625 9435505

    10/122 Novoseek inferred chemical compound relationships for TGFB1 gene (see all 122)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 96.8 3587 11882926 (15), 12174377 (12), 9628655 (11), 16686283 (11) (see all 99)
    vegf 72.2 717 18048965 (8), 19180561 (8), 20193458 (7), 17088559 (7) (see all 99)
    procollagen 68.8 92 7717995 (6), 11040229 (4), 9401768 (2), 1900574 (2) (see all 53)
    thymidine 62.4 128 10786820 (4), 10420148 (3), 8856846 (2), 11330966 (2) (see all 90)
    glycosaminoglycan 55.7 59 1613437 (4), 2120082 (4), 15133980 (3), 19840848 (3) (see all 25)
    tranilast 55 32 9622270 (4), 19282654 (3), 11082441 (2), 16284627 (2) (see all 13)
    il 10 54.5 41 20404426 (3), 15367225 (3), 12668154 (3), 16287542 (2) (see all 24)
    cycloheximide 53 63 11032362 (3), 1655396 (1), 9145908 (1), 9537840 (1) (see all 48)
    pd 98,059 50.3 53 19862801 (3), 16598650 (2), 16547158 (2), 18346908 (2) (see all 35)
    rantes 50.2 73 10336000 (9), 16564576 (7), 10925048 (3), 11931377 (3) (see all 41)

    Search CenterWatch for drugs/clinical trials and news about TGFB1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TGFB1 gene: 
    NM_000660.4  

    Unigene Cluster for TGFB1:

    Transforming growth factor, beta 1
    Hs.645227  [show with all ESTs]
    Unigene Representative Sequence: X02812
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598758 ENST00000221930(uc002oqh.2) ENST00000600196 ENST00000597453

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1
    Sirion Biotech Customized lentivirus for stable overexpression of TGFB1 
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    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TGFB1
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFB1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TGFB1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TGFB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFB1

    Additional mRNA sequence: 

    AK291907.1 AK307742.1 AY820829.1 BC000125.1 BC001180.1 BC022242.1 BT007245.1 M38449.1 
    X02812.1 

    16 DOTS entries:

    DT.100797270  DT.95265833  DT.113054  DT.100833261  DT.95144033  DT.92410325  DT.92433717  DT.100031024 
    DT.100797272  DT.91811260  DT.99954228  DT.99961298  DT.92414144  DT.95265834  DT.100797271  DT.92466233 

    24/334 AceView cDNA sequences (see all 334):

    BM555996 BM469326 BM553137 AI656715 BI029228 AI089904 BM738551 T28993 
    AI954807 CA432581 CR601792 H13845 BQ675698 BU633535 CF132703 BU527422 
    BU625377 CA426391 BX349319 BQ222205 CA503085 BC022242 CD674839 BQ054305 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TGFB1 expression in normal human tissues (normalized intensities)      TGFB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGCTGTAT
    TGFB1 Expression
    About this image


    TGFB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 24 entries
             Hypertrophic Chondrocytes Lumbar Vertebrae
             Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 16 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Pancreas (Endocrine System)    fully expand to see all 5 entries
             Exocrine Progenitor Cells Dorsal Pancreatic Bud
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Regulatory T cells

    See TGFB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGFB1

    SOURCE GeneReport for Unigene cluster: Hs.645227

    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is
    increased in osteoarthritis (OA). Co-localizes with ASPN in chondrocytes within OA lesions of articular cartilage

        SABiosciences Expression via Pathway-Focused PCR Arrays including TGFB1 (see all 38): 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TGFB1
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFB1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TGFB1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TGFB1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TGFB1 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfb11 , 5 transforming growth factor, beta 11, 5 85.38(n)1
    90(a)1
      7 (13.98 cM)5
    218031  NM_011577.11  NP_035707.11 
     256870025 
    lizard
    (Anolis carolinensis)
    Reptilia TGFB16
    Uncharacterized protein
    50(a)
    1 ↔ 1
    LGf(3763499-3801964)
    zebrafish
    (Danio rerio)
    Actinopterygii tgfb1a1 transforming growth factor, beta 1a 55.4(n)
    47.96(a)
      359834  NM_182873.1  NP_878293.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta daw6
    dawdle
    14(a)
    1 → many
    2L(2805518-2812147)


    ENSEMBL Gene Tree for TGFB1 (if available)
    TreeFam Gene Tree for TGFB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGFB1 gene
    GDF112  MSTN2  INHBE2  TGFB22  INHBB2  TGFB32  INHBC2  INHBA2  
    9 SIMAP similar genes for TGFB1 using alignment to 8 protein entries:     TGFB1_HUMAN (see all proteins):
    DKFZp686A06204    BMP2    BMP6    BMP7    BMP8A    GDF8
    TGFB2    TGFB3    BMP3

    TGFB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Polymorphism: In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis
    than in controls


    624/765 SNPs in TGFB1 are shown (see all 765)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0176094
    Camurati-Engelmann disease (CE)4--see VAR_0176092 R H mis40--------
    VAR_0176084
    Camurati-Engelmann disease (CE)4--see VAR_0176082 R C mis40--------
    VAR_0176114
    Camurati-Engelmann disease (CE)4--see VAR_0176112 C R mis40--------
    VAR_0176074
    Camurati-Engelmann disease (CE)4--see VAR_0176072 Y H mis40--------
    VAR_0673044
    Camurati-Engelmann disease (CE)4--see VAR_0673042 C R mis40--------
    VAR_0673034
    Camurati-Engelmann disease (CE)4--see VAR_0673032 C G mis40--------
    VAR_0176104
    Camurati-Engelmann disease (CE)4--see VAR_0176102 H D mis40--------
    rs18004721,2,4
    C,F,Hnon-pathogenic142036126(-) GGCCAC/TCCCGC 2 T I mis1 ese329Minor allele frequency- T:0.02MN NA EU NS EA 15162
    rs72584451,2
    C,F,A,Hnon-pathogenic142043777(+) AAATTA/GGCCAG 1 -- int112Minor allele frequency- G:0.32NA EU WA CSA 110
    rs22417151,2
    C,F,A,Hnon-pathogenic142045148(-) GGTCCG/TGTTGC 1 -- int130Minor allele frequency- T:0.41EA NS NA WA CSA 4699
    rs124621661,2
    C,F,A,Hnon-pathogenic142045666(+) CCGCCC/TCCGCC 1 -- int110Minor allele frequency- T:0.33NA WA CSA EA 373
    rs129837751,2
    C,Fnon-pathogenic142045701(+) GGAGGA/GGGATG 1 -- int1 trp312Minor allele frequency- G:0.35NA WA CSA EA 375
    rs18004711,2,4
    C,Fnon-pathogenic142047138(-) TGGCCG/CGCCGG 2 /P /R mis1 ese319Minor allele frequency- C:0.22MN NA EU WA EA NS 11129
    rs18004691,2
    C,F,A,Hnon-pathogenic142048558(-) CATCCC/TTCAGG 1 -- us2k152Minor allele frequency- N:0.00NA EA MN EU NS WA CSA 10792
    rs1048947191,2
    Cpathogenic142036380(-) GCTCCC/TGTGAC 2 R C mis10--------
    rs1048947221,2
    Cpathogenic142036386(-) CCCACA/C/G/
            
    GCTCC
    4 S R G C mis10--------
    rs1048947201,2
    Cpathogenic142036400(-) CTTTCA/GCCTTA 2 H R mis10--------
    rs1048947211,2
    Cpathogenic142036401(-) GCTTTC/TGCCTT 2 R C mis10--------
    rs2004822141,2
    Cpathogenic142042516(+) CAGACA/GCAGCT 2 R C mis10--------
    rs1110336111,2
    Cpathogenic142046971(-) CCCTGC/TACAAC 2 H Y mis10--------
    rs18004701,2,4
    C,F,Hpathogenic142047183(-) gctgcT/Cgctgc 2 /P /L mis128Minor allele frequency- C:0.34NS EA MN NA EU WA CSA 6962
    rs81051611,2
    C,F,A,Huntested142027889(+) CAGTGT/CCTGGA 1 -- int124Minor allele frequency- C:0.24NS EA NA EU WA CSA 2438
    rs114663491,2
    C,Funtested142028827(-) AGTAGC/GTGGGA 1 -- int15Minor allele frequency- G:0.12NA EU CSA 97
    rs48034551,2
    C,F,A,Huntested142039775(+) GAAGTA/CATTTC 1 -- int123Minor allele frequency- C:0.49NS EA WA NA CSA 2729
    rs667800311,2
    C--41840961(+) TTTTTT/-GAGAT 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs114663481,2
    C,F--41841014(-) CACCAT/CCGCAC 1 -- int13Minor allele frequency- C:0.01NA EU 94
    rs58281001,2
    C--41841804(+) GGGGAG/-GCCCA 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs608103251,2
    C--41842292(+) TTTTT-/TGAGAC 1 -- int11Minor allele frequency- T:0.00NA 2
    rs559432021,2
    C--41842465(+) TTTTTT/-GGGAG 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs564037631,2
    C--41842858(+) TTTTTT/-AATTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1119395571,2
    C,F--41843966(+) ATGGCG/AGATGC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs3761845731,2
    C--41844874(+) GGTAC-/GT/   
      GTGTGT
    GTGTG
    2 -- int1 cds10--------
    rs1465220511,2
    C--41844875(+) GGTAC-/GT/   
      GTGTGT
    GTGTG
    2 -- int1 cds10--------
    rs711796961,2
    C--41844879(+) GTGTGTGTGTG/-
            
    CTTTC
    1 -- cds11Minor allele frequency- -:0.00NA 2
    rs114663401,2
    C,F--41845579(-) GCTAAT/CTTTTN 1 -- int13Minor allele frequency- C:0.01NA EU 94
    rs114663391,2
    C,F--41845622(-) CCTCCT/GGAGTA 1 -- int13Minor allele frequency- G:0.01NA EU 94
    rs556590021,2
    C,F--41847943(+) CTTTGG/-TGTGG 1 -- int11Minor allele frequency- -:0.01NS 2040
    rs672338281,2
    C--41849044(+) TTTCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs2003202281,2
    C--41849825(+) AATGAA/GTTAGT 1 -- int10--------
    rs113076391,2
    C--41858249(+) CACGA-/CCCCCC 1 -- int1 trp31Minor allele frequency- C:0.00NA 2
    rs1872291991,2
    --42024593(+) GGTCTC/TACTAT 1 -- ds50010--------
    rs1916871961,2
    --42024632(+) ATTCAA/TGTAAT 1 -- ds50010--------
    rs1452978141,2
    C--42024950(+) TGCCTC/TGATGC 1 -- ds50010--------
    rs1999820591,2
    --42025381(+) GCGGGC/TGGCGG 1 -- int10--------
    rs1838786181,2
    --42025450(+) CCCACA/CCGCTA 1 -- int10--------
    rs1140762451,2
    F--42025636(+) TCATGG/CCTCGC 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1879268031,2
    C--42025699(+) TAGCTC/TCAACC 1 -- int10--------
    rs114663591,2
    C,F--42025873(-) TCAGGC/TGGGCG 1 -- int110Minor allele frequency- T:0.15NA EU CSA WA EA 453
    rs1924481281,2
    --42025955(+) TTGGCC/TTAACT 1 -- int10--------
    rs7478571,2
    C,F,A,H--42026005(-) AAAAAC/TGCAGA 1 -- int120Minor allele frequency- T:0.12EA NS NA EU CSA WA 2143
    rs3754070011,2
    C--42026166(+) CACCC-/CATCCC 1 -- int10--------
    rs2012318111,2
    C--42026242(+) CCTCCA/GTCCTG 1 -- int10--------
    rs1495961101,2
    C--42026261(+) CAAGCA/G/TCATCT 1 -- int12NS EU 3007
    rs412757521,2
    C--42026265(+) CGCATC/GTCGTA 1 -- int10--------
    rs2015173981,2
    --42026269(+) TCTCGG/TAGCCC 1 -- int10--------
    rs2005507551,2
    C--42026274(+) TAGCCC/TGGTGG 1 -- int10--------
    rs1843568861,2
    C--42026276(+) GCCCGA/GTGGGC 1 -- int10--------
    rs2002096141,2
    C--42026332(+) GCAGGC/GCCCGA 2 P A mis10--------
    rs114663581,2
    C,F--42026333(-) CTCGGG/ACCCTG 2 /G syn1 ese36Minor allele frequency- A:0.00NA EU NS 6654
    rs2013663211,2
    --42026348(+) AAGTTC/GGCATG 2 A syn10--------
    rs724804291,2
    C,F--42026387(-) GACCTC/TGGCTG 2 L syn14Minor allele frequency- T:0.00EU NS NA 11007
    rs2001642121,2
    C--42026418(+) GCTGCC/TGCACG 2 Q R mis11Minor allele frequency- T:0.00EU 1157
    rs1905667891,2
    C--42026432(+) CAGTTC/TTTCTC 2 K syn10--------
    rs2008394351,2
    --42026461(+) AGAGAC/TGCGTC 1 -- int10--------
    rs81791811,2
    C,F,H--42026464(-) CCTGAA/C/G/
            
    GCGTC
    1 -- int122NA EU NS EA 6226
    rs133067091,2
    C,F--42026545(-) GGCTGG/AGGGGG 1 -- int12Minor allele frequency- A:0.02EA 182
    rs1472194781,2
    C,F--42026546(+) CCCCCC/GAGCCC 1 -- int11Minor allele frequency- G:0.02NS 2032
    rs1402532201,2
    F--42026557(+) TATCTC/TCATCT 1 -- int11Minor allele frequency- T:0.00NS 2032
    rs1421927771,2
    --42026664(+) AATAAA/TTAATT 1 -- int10--------
    rs1430690591,2
    --42026723(+) GGGGGG/TGCTAA 1 -- int10--------
    rs1511792351,2
    --42026832(+) ACTGTG/TTGCTG 1 -- int10--------
    rs1400841781,2
    --42026903(+) GGCTCA/GCACCT 1 -- int10--------
    rs1822326651,2
    --42026968(+) TCGAGA/GTTGCA 1 -- int10--------
    rs1845547221,2
    --42027059(+) TTTTTA/TAAAAA 1 -- int10--------
    rs1889717431,2
    --42027145(+) CTCACA/GGCAAA 1 -- int10--------
    rs114663571,2
    C,F,H--42027218(-) GTAGGC/TGTGAG 1 -- int17Minor allele frequency- T:0.01NA EU NS EA 508
    rs114663561,2
    C,F--42027274(-) GCCCCG/AAAATA 1 -- int15Minor allele frequency- A:0.06NA EU CSA WA 210
    rs2002153971,2
    C--42027370(+) TTTTTC/TTATTT 1 -- int10--------
    rs3727229671,2
    C--42027370(+) TTTTT-/CTATTTTT 1 -- int10--------
    rs81045251,2
    C--42027371(+) ttttcA/Tatttt 1 -- int1 trp30--------
    rs81035751,2
    C--42027372(+) tttctA/Tttttt 1 -- int10--------
    rs711796941,2
    C--42027386(+) TTTTTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1378855401,2
    --42027714(+) AGACAC/TGGTCT 1 -- int10--------
    rs1813353461,2
    --42027845(+) CTTAGC/TTCAAA 1 -- int10--------
    rs1858367231,2
    --42027893(+) GTCTGA/GAATGC 1 -- int10--------
    rs1422069021,2
    --42027914(+) AGTAAA/GTATCA 1 -- int10--------
    rs114663531,2
    C,F--42028096(-) AAACTC/ATCATC 1 -- int15Minor allele frequency- A:0.06NA EU 214
    rs114663511,2
    C,F--42028104(-) ATGCCC/TNTAAA 1 -- int13Minor allele frequency- T:0.02NA EU 92
    rs1913366371,2
    --42028201(+) TATCTA/GTTACT 1 -- int10--------
    rs1383903731,2
    --42028275(+) GCTCAC/TGCCTG 1 -- int10--------
    rs1496213041,2
    --42028280(+) CGCCTA/GTAATC 1 -- int10--------
    rs1124479911,2
    C--42028308(+) CAAGGT/CGGGTG 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs114663501,2
    C,F--42028775(-) TTAGTA/GAAGAC 1 -- int13Minor allele frequency- G:0.01NA EU 94
    rs114663471,2
    C,F--42029356(-) TGCCTG/ATAATC 1 -- int17Minor allele frequency- A:0.16NA EU WA 102
    rs1476489621,2
    --42029512(+) GCACCC/TGGCTC 1 -- int10--------
    rs1404911741,2
    --42029624(+) GAGCTC/TCCAGG 1 -- int10--------
    rs1810722251,2
    C--42029733(+) CAGTCC/GGTGTT 1 -- int10--------
    rs1860514351,2
    --42029770(+) ACTCAG/TTTTTT 1 -- int10--------
    rs1919908471,2
    --42029787(+) ACATTC/GGGGGC 1 -- int10--------
    rs1455124691,2
    --42029804(+) TGCACC/TGGGCC 1 -- int10--------
    rs1488387591,2
    C--42029816(+) TGGGAC/TACCCA 1 -- int10--------
    rs786833621,2
    C,F--42029849(+) TCTTCC/TGTCCA 1 -- int11Minor allele frequency- T:0.04WA 118
    rs1425688531,2
    --42029910(+) ACTTTC/GGGAAG 1 -- int10--------
    rs1145032601,2
    F--42029931(+) TGAATC/TGCTTG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1830666641,2
    --42030007(+) AAATAA/GAAGAC 1 -- int10--------
    rs1874499491,2
    --42030050(+) ACTTAA/GGGCCC 1 -- int10--------
    rs1464123301,2
    --42030319(+) CATACC/GCAGCT 1 -- int10--------
    rs1408207081,2
    --42030376(+) AGGCTA/GGTCTC 1 -- int10--------
    rs1903618421,2
    --42030409(+) CACCCA/GCCTCA 1 -- int10--------
    rs574415951,2
    --42030451(+) GCCACC/TGCGTC 1 -- int10--------
    rs1384946881,2
    --42030531(+) CATCTC/GTACCC 1 -- int10--------
    rs114663461,2
    C,F--42030749(-) TGGTGA/CAACCC 1 -- int15Minor allele frequency- C:0.03NA EU 98
    rs1828242581,2
    --42030888(+) TCCACC/TGTGTT 1 -- int10--------
    rs1502571971,2
    --42030933(+) TTAAGA/GCTACT 1 -- int10--------
    rs1388932171,2
    --42031007(+) TAGACA/GGAGTT 1 -- int10--------
    rs287695971,2
    C--42031133(+) TTTTTA/TATTTT 1 -- int10--------
    rs621209681,2
    --42031134(+) TTTTAA/TTTTTT 1 -- int10--------
    rs1880798401,2
    C--42031453(+) GGGCCC/GGCCAC 1 -- int10--------
    rs1929029331,2
    --42031507(+) ACCACA/GTTGGC 1 -- int10--------
    rs1493659671,2
    C--42031642(+) CACCAC/TGTTGG 1 -- int10--------
    rs114663451,2
    C,F,A,H--42031720(-) ctcacA/Gcccgt 1 -- int112Minor allele frequency- G:0.16NA EU NS EA CSA 638
    rs1474895431,2
    --42031756(+) CTTTTG/TTCAAA 1 -- int10--------
    rs1845030171,2
    --42031774(+) AAATCA/CTCTCT 1 -- int10--------
    rs1490302801,2
    C--42031775(+) AATCA-/TCTCTCT 1 -- int10--------
    rs1876961391,2
    --42031917(+) AGCAAA/GACCAA 1 -- int10--------
    rs1152004811,2
    C,F--42032078(+) AGGCCG/AGGAGC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1925916751,2
    --42032112(+) GCACTC/TTGGGA 1 -- int10--------
    rs1847843341,2
    --42032632(+) TCCAGC/TCTGAG 1 -- int10--------
    rs1438700391,2
    --42032647(+) AACAGC/TGAAAC 1 -- int10--------
    rs1894147571,2
    --42032648(+) ACAGCA/GAAACT 1 -- int10--------
    rs1472164901,2
    --42032726(+) CGGCCA/GGGAGC 1 -- int10--------
    rs65089751,2
    C,F,A--42032819(+) ggcaaC/Tacggt 1 -- int16Minor allele frequency- T:0.36NA WA CSA 11
    rs1816905151,2
    --42032983(+) TGAATA/GACAGA 1 -- int10--------
    rs1852734131,2
    --42033094(+) GGGGAA/GTCAAA 1 -- int10--------
    rs1422235071,2
    --42033107(+) TTGTAA/TGTGAA 1 -- int10--------
    rs1897602091,2
    C--42033131(+) GGGGGA/GTACGT 1 -- int10--------
    rs1811295841,2
    --42033168(+) TCTTTA/GCATTG 1 -- int10--------
    rs1507614601,2
    --42033234(+) TCCTCC/TGTTCC 1 -- int10--------
    rs287302951,2
    --42033253(+) TAGAAA/CACTGT 1 -- int10--------
    rs1859643261,2
    --42033347(+) GTGGCG/TTGATC 1 -- int10--------
    rs1909176271,2
    --42033367(+) TGCAGC/TCACAA 1 -- int10--------
    rs1498969961,2
    --42033442(+) CCAGCC/TAGCTA 1 -- int10--------
    rs1819209871,2
    --42033478(+) GCAGGA/GTTTTA 1 -- int10--------
    rs114663441,2
    C,F--42033575(-) GGTGCG/AGTGGC 1 -- int16Minor allele frequency- A:0.09NA EU WA 334
    rs114663431,2
    C,F--42033717(-) ACTGCG/ACCCGG 1 -- int14Minor allele frequency- A:0.07NA EU 96
    rs1864060831,2
    --42033774(+) ATCACA/GAGGTC 1 -- int10--------
    rs1407820461,2
    C--42033795(+) GACCAG/TCCTGA 1 -- int10--------
    rs1907972861,2
    C--42033835(+) AAAAAA/CCAAAA 1 -- int10--------
    rs114663411,2
    C,F--42033836(-) TTTTTA/C/GGTTTT 1 -- int15NA EU 216
    rs1466346601,2
    C--42033847(+) TTAGCC/TGGGTG 1 -- int10--------
    rs1830397151,2
    --42033948(+) ATCACA/GCCACT 1 -- int10--------
    rs1869247921,2
    --42033952(+) CGCCAC/TTGCAC 1 -- int10--------
    rs22784221,2
    C,F,A,H--42034020(-) GCAACG/CCTGTC 1 -- int112Minor allele frequency- C:0.46NA EU WA CSA EA 523
    rs114663381,2
    C,F,H--42034063(-) CTCCCA/GGGCTC 1 -- int116Minor allele frequency- G:0.09NA EU NS EA CSA WA 1978
    rs2004197051,2
    --42034091(+) CAGGG-/AAACAG 1 -- int10--------
    rs81100901,2
    C,F,H--42034134(+) ATTTTA/GAGCAA 1 -- int120Minor allele frequency- G:0.11NS EA WA NA EU 2605
    rs792251641,2
    F--42034179(+) ACAACA/GTTCTA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1912142511,2
    --42034202(+) AACTTC/TCTAGG 1 -- int10--------
    rs1509389051,2
    --42034415(+) CTTTC-/TTT   
       CTTTT
    TTTTT
    1 -- int10--------
    rs730452921,2
    C,F--42034445(+) TTTAGA/TTGGAG 1 -- int12Minor allele frequency- T:0.07NA 122
    rs762069791,2
    C,F--42034462(+) ATCATT/CGCCCA 1 -- int13Minor allele frequency- C:0.07NA WA 240
    rs129798151,2
    H--42034469(+) cccagG/Cccgga 1 -- int14Minor allele frequency- C:0.00NS EA 420
    rs1831682041,2
    --42034472(+) AGGCCA/GGAGTG 1 -- int10--------
    rs1433979981,2
    --42034484(+) AGTGGC/TGCGAT 1 -- int10--------
    rs114663371,2
    F--42034510(-) GGGGGT/GGGAGG 1 -- int13Minor allele frequency- G:0.02NA EU 80
    rs1876586081,2
    C--42034552(+) GGTACC/GTGGAT 1 -- int10--------
    rs114663361,2
    H--42034680(-) CCTGAG/CGTCTG 1 -- int17Minor allele frequency- C:0.00NA EU NS EA 508
    rs114663351,2
    F,H--42034836(-) AAAGCA/CGAATA 1 -- int17Minor allele frequency- C:0.00NA EU NS EA 504
    rs1145248151,2
    C,F--42034887(+) GAATTC/TTACCA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1915741481,2
    --42035086(+) AATCCA/CAGCAT 1 -- int10--------
    rs1483439891,2
    --42035136(+) TGGTGA/CCCTTC 1 -- int10--------
    rs1821923891,2
    C--42035225(+) TGGGCA/GTGGTG 1 -- int10--------
    rs800708191,2
    C--42035663(+) AAAAAA/GGAACC 1 -- int10--------
    rs1405660531,2
    C--42035747(+) TGGCTA/GATTTT 1 -- int10--------
    rs1180653401,2
    C,F--42035888(+) AGACTC/GCTGGT 1 -- int11Minor allele frequency- G:0.03EA 120
    rs1121634371,2
    C--42035889(+) GACTCG/CTGGTT 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs114663341,2
    C,F,H--42036003(-) ACTGCC/TATCTG 1 -- int114Minor allele frequency- T:0.06NA EU NS EA WA 1394
    rs1880806211,2
    C--42036036(+) TCCATC/GCAGGC 1 -- int10--------
    rs1461823111,2
    C--42036123(+) CCAGCG/AGGGTG 2 /P /L mis11Minor allele frequency- A:0.00NA 4548
    rs1499009771,2
    C--42036150(+) AAGGCC/TGGTTC 2 Q R mis11Minor allele frequency- T:0.00NA 4544
    rs353831471,2
    C--42036191(+) CGGCCA/G/TGTAGT 3 T syn11NA 70
    rs724804241,2
    C,F--42036192(-) CACTAC/TCGGCC 2 T I mis12Minor allele frequency- T:0.00EU NA 7800
    rs1121089841,2
    C--42036203(+) AACCCA/G/TGCTTT 1 -- spa11CSA 1
    rs81791821,2
    F--42036209(-) CCACAC/-AAAGC 1 -- int11Minor allele frequency- -:0.02NA 1863
    rs283651671,2
    C,F--42036209(-) CACACC/AAAAGC 1 -- int11Minor allele frequency- A:0.05--56
    rs1390806951,2
    C--42036236(+) GGACAT/CACACA 1 -- int11Minor allele frequency- C:0.00NS 2040
    rs1499135821,2
    C--42036287(+) TGGGAA/GCACAC 1 -- int11Minor allele frequency- G:0.00NS 1666
    rs724804271,2
    C--42036296(-) TGTGCG/ATGTGT 1 -- int11Minor allele frequency- A:0.00EU 3264
    rs2000042281,2
    C--42036299(+) CACGCA/GCACAC 1 -- int10--------
    rs1453088511,2
    F--42036318(+) TGGGCA/GTGGCC 1 -- int11Minor allele frequency- G:0.00NS 1666
    rs1117814171,2
    C--42036338(+) GGCCTA/C/GACCGT 1 -- int11CSA 1
    rs1118784191,2
    C--42036339(+) GCCTCA/C/TCCGTT 1 -- spd11CSA 1
    rs1413524621,2
    F--42036404(+) GCGAAA/GGCCCT 2 L F mis11Minor allele frequency- G:0.01NS 1666
    rs1924938131,2
    C--42036459(+) TGCAGC/TTCACC 1 -- int10--------
    rs556784291,2
    C--42036562(+) CTCTC-/TTTTTTT 1 -- int11Minor allele frequency- TT:0.00NA 2
    rs124618951,2
    C,F,A,H--42036613(+) TCTCCC/AAGGCC 1 -- int117Minor allele frequency- A:0.47NS NA WA CSA EA 1343
    rs1458381171,2
    C--42036688(+) GCTAA-/TTTTTTT 1 -- int10--------
    rs558354391,2
    C--42036702(+) TTTTT-/TTGAGAT 1 -- int11Minor allele frequency- TT:0.00NA 2
    rs1852144441,2
    --42036866(+) ATTTTC/TAGTAG 1 -- int10--------
    rs114663331,2
    C,F--42037077(-) ACTTCG/AGGAGG 1 -- int13Minor allele frequency- A:0.01NA EU 92
    rs104162691,2
    C,F,H--42037114(+) cacccG/AgccAG 1 -- int115Minor allele frequency- A:0.36NA EU WA CSA EA 471
    rs1156520661,2
    C,F--42037125(+) CATCAA/GTCTCT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs116721431,2
    H--42037204(+) ACTCAG/TCATTG 1 -- int11Minor allele frequency- T:0.00NS 120
    rs1900516131,2
    C--42037222(+) CAGATA/GAGCTC 1 -- int10--------
    rs350194161,2
    F--42037254(+) GCCCAG/TGACAC 1 -- int11Minor allele frequency- T:0.50NA 4
    rs1927465711,2
    --42037327(+) TGAGAC/TGGAGT 1 -- int10--------
    rs1847430941,2
    --42037368(+) TGGCAC/TGATCT 1 -- int10--------
    rs74089551,2
    C,F,A,H--42037466(+) acgccC/Gagcta 1 -- int110Minor allele frequency- G:0.36NA EU CSA 109
    rs1884839361,2
    C--42037494(+) GAGACA/GGGGTT 1 -- int10--------
    rs1809359311,2
    --42037532(+) ACTCCC/TGATCT 1 -- int10--------
    rs1850576431,2
    --42037536(+) CCGATC/GTCAGG 1 -- int10--------
    rs1894757381,2
    --42037597(+) ACCATA/GCCAGG 1 -- int10--------
    rs114663311,2
    C,F--42037761(-) GAGGCA/CTGCAG 1 -- int15Minor allele frequency- C:0.03NA EU WA 214
    rs114663301,2
    C,F,H--42037960(-) GCTGTG/ATGCCT 1 -- int17Minor allele frequency- A:0.00NA EU NS EA 514
    rs58281011,2
    C--42038090(+) AAATG-/AGTT  
            
    AGTTA
    1 -- int11Minor allele frequency- AGTT:0.00CSA 2
    rs672476811,2
    C--42038092(+) GTTAG-/TTAG  
            
    GCTCT
    1 -- int11Minor allele frequency- TTAG:0.00NA 2
    rs1822218231,2
    --42038133(+) AGGCTA/GTTCCC 1 -- int10--------
    rs58281021,2
    C--42038151(+) gaatc-/TTttttt 1 -- int1 trp30--------
    rs30611921,2
    C--42038171(+) TTTTTTT/-GAGAT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs116732751,2
    H--42038213(+) cagtaG/Ctgtga 1 -- int14Minor allele frequency- C:0.00NS EA 402
    rs15499341,2
    C,F,A,H--42038224(-) gtgagC/Tcataa 1 -- int111Minor allele frequency- T:0.38NA WA CSA EA 378
    rs1472336121,2
    C--42038227(+) TGACTC/TACTGC 1 -- int10--------
    rs1150226231,2
    F--42038326(+) TTTTTG/TTATTT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs114663291,2
    C,F--42038375(-) AGGAG-/TTTTGA 1 -- int14Minor allele frequency- T:0.33NA EU 92
    rs1868650601,2
    --42038779(+) TTTCCA/GTGCCA 1 -- int10--------
    rs1122587291,2
    C--42038835(+) AGAGGG/AGTCCT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs283957681,2
    C,F,H--42038890(-) ACCCCA/C/G/
            
    GTTTC
    1 -- int18NS WA EU 4337
    rs1511053951,2
    C--42038948(+) AACTCC/TGGTGA 2 R G mis11Minor allele frequency- T:0.00NA 4538
    rs2010556971,2
    C--42038999(+) CAGCCA/GGTTGC 2 R W mis10--------
    rs2020575761,2
    --42039023(+) GGAATC/TGTTGC 2 N D mis10--------
    rs724804261,2
    C--42039048(-) GCCTTC/TATCAT 1 -- int11Minor allele frequency- T:0.00EU 3264
    rs1998791251,2
    C--42039084(+) GTCACA/GACCCC 1 -- int10--------
    rs1917053751,2
    --42039162(+) CTACCC/TTCTCA 1 -- int10--------
    rs1502254131,2
    C,F--42039215(+) AGTACC/TCATGA 1 -- int11Minor allele frequency- T:0.00NS 2054
    rs1380647461,2
    F--42039219(+) CCCATG/AAGAGG 1 -- int11Minor allele frequency- A:0.00NS 2054
    rs104054031,2
    C,F,H--42039250(+) GGCTGC/TGGTCA 1 -- int18Minor allele frequency- T:0.01NS EA NA EU 2564
    rs1389230301,2
    C--42039279(+) CAGCCG/AAAGGT 1 -- int11Minor allele frequency- A:0.00NS 2054
    rs114663281,2
    C,F--42039308(-) GGAAAC/TAGGCC 1 -- int15Minor allele frequency- T:0.01NA EU 277
    rs1866978451,2
    --42039422(+) CAGCAC/GTTTGG 1 -- int10--------
    rs1446313951,2
    C--42039434(+) AGCCCA/GAGGTG 1 -- int10--------
    rs81025011,2
    C,F--42039452(+) cacttG/Caggtc 1 -- int14Minor allele frequency- C:0.09NA EU 94
    rs1441142191,2
    C--42039541(+) CACACA/GCCTGT 1 -- int10--------
    rs72491911,2
    C--42039581(+) gagaaC/Ttgctt 1 -- int10--------
    rs1466525431,2
    --42039624(+) GATCAC/TGCCAC 1 -- int10--------
    rs1390476221,2
    --42039662(+) GACTTC/TGTCTC 1 -- int10--------
    rs1902331681,2
    --42039663(+) ACTTCC/GTCTCA 1 -- int10--------
    rs1824531921,2
    C--42039733(+) TACGGC/TTCTGC 1 -- int10--------
    rs1169759301,2
    C,F--42039749(+) TGACAC/ACCTGA 1 -- int11Minor allele frequency- A:0.03EA 120
    rs81029181,2
    C--42039831(+) actttA/Gggagg 1 -- int10--------
    rs1458841721,2
    C--42039910(+) TCTACC/TAAAAA 1 -- int10--------
    rs104068161,2
    C,F,A--42039982(+) gcaggG/Agaatc 1 -- int16Minor allele frequency- A:0.42NA 12
    rs1471005331,2
    --42040037(+) CACTGC/TACTCT 1 -- int10--------
    rs1177455701,2
    F--42040139(+) TAGAGC/GCTGAG 1 -- int11Minor allele frequency- G:0.02NA 120
    rs1164138791,2
    C,F--42040140(+) AGAGCC/ATGAGA 1 -- int11Minor allele frequency- A:0.05WA 118
    rs1866371181,2
    --42040163(+) CTAATA/GTTCTA 1 -- int10--------
    rs1477211011,2
    --42040260(+) CTCACA/GCTTGT 1 -- int10--------
    rs19894571,2
    C,F,A,H--42040381(+) CTAGGA/C/G/
            
    GTGGT
    1 -- int18NA WA CSA 17
    rs20140151,2
    C,F,H--42040525(+) acacaC/Aacaca 1 -- int19Minor allele frequency- A:0.02NS NA WA CSA 916
    rs1925319191,2
    C--42040533(+) ACACAA/CAAAAA 1 -- int10--------
    rs1465855731,2
    --42040598(+) AATTCC/TCCAGA 1 -- int10--------
    rs1482921791,2
    C--42040670(+) ATCCTA/GTGAGT 1 -- int10--------
    rs1414287131,2
    --42040991(+) TCCTGA/GGGTCA 1 -- int10--------
    rs22888741,2
    C,F--42041041(-) CAGGCG/ACCTGT 1 -- int110Minor allele frequency- A:0.26NA EU WA CSA 103
    rs1839365111,2
    --42041173(+) ATTGCA/GGGCAT 1 -- int10--------
    rs1162759181,2
    C,F--42041218(+) TGAGAC/TGGTCT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1381080141,2
    --42041225(+) GTCTCA/GCTCCA 1 -- int10--------
    rs22888731,2
    C,F,A--42041245(-) ctgcaC/Ttccag 1 -- int111Minor allele frequency- T:0.38NA EU WA CSA 227
    rs1425567951,2
    --42041294(+) GCTCAA/GTCAAT 1 -- int10--------
    rs1459853191,2
    --42041369(+) TAGTAA/TTTTTT 1 -- int10--------
    rs1884338091,2
    --42041445(+) TGCCTC/TGGCTT 1 -- int10--------
    rs1399237631,2
    C--42041696(+) GTCTGA/GACATT 1 -- int10--------
    rs1415979831,2
    --42041891(+) CTACTC/TGGGTG 1 -- int10--------
    rs1931882061,2
    --42041903(+) CTGAGA/GCAGGA 1 -- int10--------
    rs582576081,2
    C--42042019(+) AAAAA-/AA    
       
    /AAAA
    GAGGC
    1 -- int11NA 2
    rs1850828171,2
    --42042045(+) CACGCC/TTGTAA 1 -- int10--------
    rs1887185721,2
    --42042119(+) CCAACA/GTGGTA 1 -- int10--------
    rs2001425081,2
    --42042159(+) TTAGC-/TGG   
      GCGTGG
    TGGCG
    1 -- int10--------
    rs1916327281,2
    --42042164(+) TGGGCG/TTGGTG 1 -- int10--------
    rs1836415151,2
    --42042221(+) TCACTG/TGAACC 1 -- int10--------
    rs113474921,2
    C--42042302(+) GTCTC-/AAAAAA 1 -- int1 trp32Minor allele frequency- A:0.00NA CSA 4
    rs22417171,2
    C,F,A--42042318(-) AGAACT/GCTTTT 1 -- int111Minor allele frequency- G:0.40NA EU WA CSA EA 472
    rs22417161,2
    C,F,H--42042352(-) CTGAAG/AGATAG 1 -- int127Minor allele frequency- A:0.20EA NA EU NS WA 4333
    rs1426420071,2
    C--42042540(+) CAACAC/TGGGTT 2 M V mis11Minor allele frequency- T:0.00NA 4552
    rs2020712741,2
    C--42042571(+) TCTGAA/TGTGTT 2 T syn10--------
    rs2015678741,2
    C--42042583(+) AAGAAC/TATATA 2 I M mis10--------
    rs2014178081,2
    --42042610(+) TGCTTA/GAACTT 2 F syn10--------
    rs1131879271,2
    C--42042628(+) ATTTCG/TAGCAG 1 -- spa10--------
    rs114663241,2
    C,F,H--42042651(-) TGATCG/TCCTCC 1 -- int113Minor allele frequency- T:0.04NA EU NS WA 1440
    rs602620051,2
    C--42042747(+) TACCT-/TTTA  
            
    TTTAT
    1 -- int10--------
    rs2015565981,2
    C--42042795(+) AATTT-/ATTTTT 1 -- int10--------
    rs81086321,2
    C--42042796(+) AAtttA/Tttttt 1 -- int1 trp30--------
    rs586757261,2
    --42042799(+) TTTTTA/TTTTTT 1 -- int10--------
    rs65089761,2
    C,F,H--42042936(+) aaggcA/G/Tcatgc 1 -- int111NA EU WA CSA 109
    rs81080521,2
    C,F--42043035(+) ccaccC/Tgcctc 1 -- int15Minor allele frequency- T:0.05NA EU 98
    rs1821901741,2
    --42043037(+) ACCCGC/TCTCGG 1 -- int10--------
    rs114663211,2
    C,F,H--42043178(-) GAATGT/CGGTTA 1 -- int116Minor allele frequency- C:0.06NA EU NS WA 1800
    rs1170328731,2
    F--42043372(+) TTAACA/TCCCTC 1 -- int11Minor allele frequency- T:0.02NA 120
    rs1876284671,2
    --42043453(+) AGACTC/TTCCTA 1 -- int10--------
    rs1903099801,2
    --42043467(+) TAAGCA/GCTGTG 1 -- int10--------
    rs1821837391,2
    --42043479(+) AACCTC/TGGGCA 1 -- int10--------
    rs3733419101,2
    C--42043628(+) GTATAC/TGTCTA 1 -- int10--------
    rs1456736191,2
    --42043785(+) CAGGCA/GTGGTG 1 -- int10--------
    rs1477111591,2
    --42043797(+) CGGACA/GGCTCT 1 -- int10--------
    rs1860594891,2
    --42043815(+) GCTACC/TTGGGA 1 -- int10--------
    rs784307641,2
    C,F--42043957(+) ACAGCG/ACTATT 1 -- int11Minor allele frequency- A:0.05WA 118
    rs2005025891,2
    --42044461(+) TTAAG-/GTGTGTT 1 -- int1