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F7 Gene

protein-coding   GIFtS: 68
GCID: GC13P113760

Coagulation Factor VII (Serum Prothrombin Conversion Accelerator)

  See F7-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Coagulation Factor VII (Serum Prothrombin Conversion Accelerator)1 2     Coagulation Factor VII2
Eptacog Alfa1 2 3     proconvertin2
FVII Coagulation Protein1 2     Proconvertin3
SPCA2 3     Serum Prothrombin Conversion Accelerator3
EC 3.4.21.213 8     EC 3.4.218
Factor VII1     

External Ids:    HGNC: 35441   Entrez Gene: 21552   Ensembl: ENSG000000575937   OMIM: 6138785   UniProtKB: P087093   

Export aliases for F7 gene to outside databases

Previous GC identifers: GC13P112370 GC13P108397 GC13P112846 GC13P111708 GC13P112808 GC13P094198


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for F7 Gene:
This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This
factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor
Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a
catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together
by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates
the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene
can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed
for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for F7 Gene:
F7 (coagulation factor VII (serum prothrombin conversion accelerator)) is a protein-coding gene. Diseases associated with F7 include myocardial infarction, decreased, and factor vii deficiency. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
Function: Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a
zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor
proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa
by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor
and calcium

Gene Wiki entry for F7 (Factor VII) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_027140.7  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the F7 gene promoter:
         COUP-TF1   COUP-TF   AP-1   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF7 promoter sequence
   Search Chromatin IP Primers for F7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat F7


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

F7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F7 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P113760:  view genomic region     (about GC identifiers)

Start:
113,760,105 bp from pter      End:
113,774,995 bp from pter
Size:
14,891 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FA7_HUMAN, P08709 (See protein sequence)
Recommended Name: Coagulation factor VII precursor  
Size: 466 amino acids; 51594 Da
Subunit: Heterodimer of a light chain and a heavy chain linked by a disulfide bond
Selected PDB 3D structures from and Proteopedia for F7 (see all 56):
1BF9 (3D)        1CVW (3D)        1DAN (3D)        1DVA (3D)        1F7E (3D)        1F7M (3D)    
Secondary accessions: B0YJC8 Q14339 Q5JVF1 Q5JVF2 Q9UD52 Q9UD53 Q9UD54
Alternative splicing: 2 isoforms:  P08709-1   P08709-2   

Explore the universe of human proteins at neXtProt for F7: NX_P08709

Explore proteomics data for F7 at MOPED

Post-translational modifications: 

  • The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind
    calcium1
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains1
  • O- and N-glycosylated. N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing
    complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before
    folding. O-fucosylated by POFUT1 on a conserved serine or threonine residue found in the consensus sequence
    C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines1
  • Glycosylation2 at Ser112, Ser120, Asn205, Asn382
  • Selected DME Specific Peptides for F7 (P08709) (see all 19)
     FEGRNCE  CGGTLIN  NGGSCKD  TGIVSWG 


    See F7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000122.1  NP_001254483.1  NP_062562.1  

    ENSEMBL proteins: 
     ENSP00000329546   ENSP00000364731   ENSP00000387669   ENSP00000442051  
    Reactome Protein details: P08709

    F7 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for F7
    OriGene MassSpec for F7
    OriGene Custom Protein Services for F7
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    Novus Biologicals F7 Proteins
    Novus Biologicals F7 Lysates
    Sino Biological Recombinant Protein for F7
    Sino Biological Cell Lysate for F7
    ProSpec Recombinant Protein for F7
    Cloud-Clone Corp. Proteins for F7

     
    Search eBioscience for Proteins for F7 

    F7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for F7 (Coagulation Factor VII)
    OriGene Antibodies for F7
    OriGene Custom Antibody Services for F7
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    Abcam antibodies for F7
    Cloud-Clone Corp. Antibodies for F7
    ThermoFisher Antibody for F7
    LSBio Antibodies in human, mouse, rat for F7

    F7 Assay Products:

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    GenScript Custom Assay Services for F7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for F7
    Cloud-Clone Corp. CLIAs for F7
    Search eBioscience for ELISAs for F7 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR017857 Coagulation_fac_subgr_Gla_dom
     IPR001314 Peptidase_S1A
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P08709

    ProtoNet protein and cluster: P08709

    Selected Blocks protein domains (see all 7):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB001438 Type II EGF-like signature


    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with F7           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FA7_HUMAN, P08709
    Function: Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a
    zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor
    proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa
    by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor
    and calcium
    Catalytic activity: Selective cleavage of Arg- -Ile bond in factor X to form factor Xa

         Genatlas biochemistry entry for F7:
    coagulation factor VII,vitamin K-dependent (serum protein conversion accelerator),the active form being generated
    by the cleavage of Arg152-Ile153 peptide bond and complexing to cofactor F3 of tissue factor

         Enzyme Numbers (IUBMB): EC 3.4.21.211 2 EC 3.4.212

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI3455766
    GO:0003824catalytic activity ----
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005102receptor binding IEA--
         
    Find genes that share ontologies with F7           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for F7:
     Decreased Salmonella enterica   Decreased viability of wild-ty  Increased gamma-H2AX phosphory  Metaphase cells 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for F7):
     cardiovascular system  homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 

    Find genes that share phenotypes with F7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out F7tm1Pec for F7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for F7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for F7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for F7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for F7

    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat F7

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for F7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): F7 (NM_000131)
    Sino Biological Human cDNA Clone for F7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for F7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat F7

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for F7 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FA7_HUMAN, P08709: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    golgi apparatus4
    plasma membrane4

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with F7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for F7 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Extrinsic Prothrombin Activation Pathway0.00
    Blood Coagulation Signaling Pathways0.51
    Extrinsic Pathway0.00
    Blood Clotting Cascade0.42
    2PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.00
    Warfarin Pathway, Pharmacodynamics0.31
    Gamma-carboxylation of protein precursors0.00
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.00
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.00
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    4Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30


    Find genes that share SuperPaths with F7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for F7
        Blood Coagulation Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for F7
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade

    3 BioSystems Pathways for F7
        Blood Clotting Cascade
    Selenium Pathway
    Complement and Coagulation Cascades


    5 Reactome Pathways for F7
        Extrinsic Pathway
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
    Removal of aminoterminal propeptides from gamma-carboxylated proteins
    Gamma-carboxylation of protein precursors
    BMAL1:CLOCK,NPAS2 activates circadian gene expression

    1 PharmGKB Pathway for F7
        Warfarin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for F7):
        Complement and coagulation cascades

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for F7
    Interactions:

        GeneGlobe Interaction Network for F7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for F7 (P087092, 3 ENSP000003647314) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3MINT-48178 I2D: score=2 
    F3P137263, ENSP000003341454I2D: score=5 STRING: ENSP00000334145
    HPNP059813, ENSP000002626264I2D: score=2 STRING: ENSP00000262626
    USP49Q70CQ13, ENSP000002972294I2D: score=2 STRING: ENSP00000297229
    GGCXP384353, ENSP000002338384I2D: score=1 STRING: ENSP00000233838
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    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002690positive regulation of leukocyte chemotaxis IDA17991872
    GO:0006508proteolysis TAS--
    GO:0007596blood coagulation TAS--
    GO:0007598blood coagulation, extrinsic pathway TAS--
    GO:0007623circadian rhythm IEA--

    Find genes that share ontologies with F7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for F7 (FA7)

    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Pharmaceutical: Available under the names Niastase or Novoseven (Novo Nordisk). Used for the treatment of bleeding
    episodes in hemophilia A or B patients with antibodies to coagulation factors VIII or IX

    2 HMDB Compounds for F7    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--

    Selected DrugBank Compounds for F7 (see all 12)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coagulation Factor IXChristmas factor (see all 4)9001-28-9targetligand10192655 10617609 659613 10938981 10498586 10381508
    Coagulation factor VIIaCoagulation factor VII precursor (see all 5)9001-25-6target--12525826 16370916 15907148 10388743 11735107
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetactivator17139284 17016423
    2-(4-HYDROXY-5-PHENYL-1H-PYRAZOL-3-YL)-1H-BENZOIMIDAZOLE-5-CARBOXAMIDINE-- --target--10592235
    5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID)-- --target--10592235
    [2'-HYDROXY-3'-(1H-PYRROLO[3,2-C]PYRIDIN-2-YL)-BIPHENYL-3-YLMETHYL]-UREA-- --target--10592235
    {5-(5-AMINO-1H-PYRROLO[3,2-B]PYRIDIN-2-YL)-6-HYDROXY-3'-NITRO-BIPHENYL-3-YL]-ACETIC ACID-- --target--10592235
    (2R)-({4-[AMINO(IMINO)METHYL]PHENYL}AMINO){5-ETHOXY-2-FLUORO-3-[(3R)-TETRAHYDROFURAN-3-YLOXY]PHENYL}ACETICACID-- --target----
    2-[2-ETHANESULFONYLAMINO-3-(1H-INDOL-3-YL)-PROPIONYLAMINO]-PENTANEDIOIC ACID 5-AMIDE 1-(4-CARBAMIM IDOYL-BENZYLAMIDE)-- --target----
    2-[2-ETHANESULFONYLAMINO-3-(5-PROPOXY-1H-INDOL-3-YL)-PROPIONYLAMINO]-PENTANEDIOIC ACID 5-AMIDE 1-(4-CARBAMIMIDOYL-BENZYLAMIDE)-- --target----

    Selected Novoseek inferred chemical compound relationships for F7 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrinogen 70.8 46 8651250 (2), 9636964 (2), 19577483 (2), 2335101 (1) (see all 40)
    gamma-carboxyglutamic acid 55.1 3 1633870 (1), 18373251 (1), 9184404 (1)
    warfarin 38.9 1 2377284 (1)
    serine 36.6 8 1970743 (1), 11876468 (1), 18058827 (1), 8639446 (1) (see all 8)
    cholesterol 34.2 5 8386689 (1), 17059418 (1), 1793443 (1)
    kininogen 26.6 1 10225721 (1)
    levonorgestrel 20.1 1 11810082 (1)
    glucose 13.8 5 9591743 (1), 2055073 (1), 12917499 (1), 17675296 (1)
    lipid 4.79 5 9005605 (1), 8651250 (1), 14766762 (1), 1753430 (1)
    gentamicin 2.31 1 16879227 (1)



    Find genes that share compounds with F7           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for F7 gene (3 alternative transcripts): 
    NM_000131.4  NM_001267554.1  NM_019616.3  

    Unigene Cluster for F7:

    Coagulation factor VII (serum prothrombin conversion accelerator)
    Hs.36989  [show with all ESTs]
    Unigene Representative Sequence: NM_000131
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346342(uc010agp.1) ENST00000375581(uc001vsv.3 uc001vsw.3 uc010tjt.2)
    ENST00000444337 ENST00000479674 ENST00000473085 ENST00000541084
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat F7

    Additional mRNA sequence: 

    AK298404.1 AK310779.1 AK311565.1 AK311682.1 AY423856.1 BC130468.1 EF421855.1 EU557239.1 
    M13232.1 NR_051961.1 

    2 DOTS entries:

    DT.107779  DT.92417225 

    21 AceView cDNA sequences:

    AL531727 AI076550 AI076552 CB156039 AA256665 NM_019616 AY423856 M13232 
    M78203 BX095482 AA701917 BV199077 NM_000131 AA256666 AL531726 AU099140 
    AA133523 AA677801 AI247880 AA002224 BE939170 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for F7    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:                                                        -                                 
    SP2:                    -                                   -                                 
    SP3:                    -     -           -                 -                                 
    SP4:                                                        -     -                           
    SP5:                                                                                          


    ECgene alternative splicing isoforms for F7

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    F7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    F7 Expression
    About this image

    F7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.36989

    UniProtKB/Swiss-Prot: FA7_HUMAN, P08709
    Tissue specificity: Plasma

        Custom PCR Arrays for F7
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for F7
    OriGene qSTAR qPCR primer pairs in human, mouse for F7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat F7
    QuantiTect SYBR Green Assays in human, mouse, rat F7
    QuantiFast Probe-based Assays in human, mouse, rat F7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F7

    (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

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    This gene was present in the common ancestor of chordates.

    Orthologs for F7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F71 , 5 coagulation factor VII1, 5 77.25(n)1
    71.33(a)1
      8 (5.73 cM)5
    140681  NM_010172.31  NP_034302.21 
     130260345 
    chicken
    (Gallus gallus)
    Aves F71 coagulation factor VII (serum prothrombin conversion more 59.78(n)
    57.71(a)
      395086  NM_204442.1  NP_989773.1 
    lizard
    (Anolis carolinensis)
    Reptilia F76
    coagulation factor VII (serum prothrombin conversi...
    56(a)
    1 ↔ 1
    3(105930562-105943454)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia f71 coagulation factor 7 (serum prothrombin conversion more 57.98(n)
    57.07(a)
      780280  NM_001079351.1  NP_001072819.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY040345.12   -- 72.42(n)   114423  AY040345.1 


    ENSEMBL Gene Tree for F7 (if available)
    TreeFam Gene Tree for F7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for F7 gene
    PROZ2  C1S2  C1R2  C1RL2  F92  F102  MASP12  F22  
    HPR2  HP2  PROC2  MASP22  
    Selected SIMAP similar genes for F7 using alignment to 6 protein entries:     FA7_HUMAN (see all proteins) (see all similar genes):
    F2    F9    FBLN1    PROC1    DKFZp586F0824    F12
    FBN2    GAS6    MATN2    SNED1    HP    EGFL7
    F9 p22    factor IX F9    F10    PROC    TRY8    PRSS1

    Find genes that share paralogs with F7           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for F7 (see all 750)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505255361,2,,4
    C,FFactor VII deficiency (FA7D)4 --113768260(+) GGGCCG/AGAACT 7 /Q /R mis12Minor allele frequency- A:0.00NA EU 5873
    rs1467958691,2,,4
    CFactor VII deficiency (FA7D)4 --113770003(+) TGAACA/GAGAAC 7 K E mis10--------
    rs362095671,2,,4
    CFactor VII deficiency (FA7D)4 pathogenic1113772982(+) CACGGC/TCCTGG 7 A V mis13Minor allele frequency- T:0.00NS NA 4440
    rs1219649261,2,,4
    C,FFactor VII deficiency (FA7D)4 probable-pathogenic1113773012(+) GCCCCG/AGCTGA 7 /Q /R mis11Minor allele frequency- A:0.00NA 4352
    rs1379192861,2,,4
    C,FFactor VII deficiency (FA7D)4 --113773044(+) AGTCAC/TGGAAG 7 R W mis11Minor allele frequency- T:0.00NA 4408
    rs1904858161,2,,4
    Factor VII deficiency (FA7D)4 --113773092(+) GTGCCA/GGCTAC 7 S G mis10--------
    rs1219649361,2,,4
    CFactor VII deficiency (FA7D)4 probable-pathogenic1113773145(+) CCACAG/TGCCAC 7 Q H mis10--------
    VAR_0654104
    Factor VII deficiency (FA7D)4--see VAR_0654102 T M mis40--------
    VAR_0065164
    Factor VII deficiency (FA7D)4--see VAR_0065162 G R mis40--------
    VAR_0653734
    Factor VII deficiency (FA7D)4--see VAR_0653732 E K mis40--------
    VAR_0654174
    Factor VII deficiency (FA7D)4--see VAR_0654172 S N mis40--------
    VAR_0144124
    Factor VII deficiency (FA7D)4--see VAR_0144122 C R mis40--------
    VAR_0065074
    Factor VII deficiency (FA7D)4--see VAR_0065072 R W mis40--------
    VAR_0653834
    Factor VII deficiency (FA7D)4--see VAR_0653832 S F mis40--------
    VAR_0064974
    Factor VII deficiency (FA7D)4--see VAR_0064972 R K mis40--------
    VAR_0654254
    Factor VII deficiency (FA7D)4--see VAR_0654252 A T mis40--------
    VAR_0065174
    Factor VII deficiency (FA7D)4--see VAR_0065172 G E mis40--------
    VAR_0151444
    Factor VII deficiency (FA7D)4--see VAR_0151442 D H mis40--------
    VAR_0144134
    Factor VII deficiency (FA7D)4--see VAR_0144132 T N mis40--------
    VAR_0654114
    Factor VII deficiency (FA7D)4--see VAR_0654112 M T mis40--------
    VAR_0144094
    Factor VII deficiency (FA7D)4--see VAR_0144092 Y C mis40--------
    VAR_0143924
    Factor VII deficiency (FA7D)4--see VAR_0143922 C G mis40--------
    VAR_0653944
    Factor VII deficiency (FA7D)4--see VAR_0653942 D N mis40--------
    VAR_0653784
    Factor VII deficiency (FA7D)4--see VAR_0653782 G S mis40--------
    VAR_0144114
    Factor VII deficiency (FA7D)4--see VAR_0144112 G V mis40--------
    VAR_0654084
    Factor VII deficiency (FA7D)4--see VAR_0654082 R W mis40--------
    VAR_0653874
    Factor VII deficiency (FA7D)4--see VAR_0653872 G R mis40--------
    VAR_0144064
    Factor VII deficiency (FA7D)4--see VAR_0144062 E Q mis40--------
    VAR_0654224
    Factor VII deficiency (FA7D)4--see VAR_0654222 V F mis40--------
    VAR_0151394
    Factor VII deficiency (FA7D)4--see VAR_0151392 C Y mis40--------
    VAR_0151354
    Factor VII deficiency (FA7D)4--see VAR_0151352 F L mis40--------
    VAR_0654194
    Factor VII deficiency (FA7D)4--see VAR_0654192 H R mis40--------
    VAR_0654214
    Factor VII deficiency (FA7D)4--see VAR_0654212 G C mis40--------
    VAR_0654154
    Factor VII deficiency (FA7D)4--see VAR_0654152 D E mis40--------
    VAR_0144104
    Factor VII deficiency (FA7D)4--see VAR_0144102 C S mis40--------
    VAR_0144164
    Factor VII deficiency (FA7D)4--see VAR_0144162 A T mis40--------
    VAR_0065154
    Factor VII deficiency (FA7D)4--see VAR_0065152 C F mis40--------
    VAR_0654234
    Factor VII deficiency (FA7D)4--see VAR_0654232 G A mis40--------
    VAR_0653864
    Factor VII deficiency (FA7D)4--see VAR_0653862 I T mis40--------
    VAR_0144144
    Factor VII deficiency (FA7D)4--see VAR_0144142 D H mis40--------
    VAR_0654024
    Factor VII deficiency (FA7D)4--see VAR_0654022 G S mis40--------
    VAR_0144204
    Factor VII deficiency (FA7D)4--see VAR_0144202 G E mis40--------
    VAR_0654244
    Factor VII deficiency (FA7D)4--see VAR_0654242 G C mis40--------
    VAR_0653774
    Factor VII deficiency (FA7D)4--see VAR_0653772 G D mis40--------
    VAR_0151414
    Factor VII deficiency (FA7D)4--see VAR_0151412 V M mis40--------
    VAR_0653704
    Factor VII deficiency (FA7D)4--see VAR_0653702 C F mis40--------
    VAR_0653804
    Factor VII deficiency (FA7D)4--see VAR_0653802 G R mis40--------
    VAR_0654144
    Factor VII deficiency (FA7D)4--see VAR_0654142 G C mis40--------
    VAR_0065004
    Factor VII deficiency (FA7D)4--see VAR_0065002 G S mis40--------
    VAR_0654124
    Factor VII deficiency (FA7D)4--see VAR_0654122 M V mis40--------
    VAR_0151404
    Factor VII deficiency (FA7D)4--see VAR_0151402 A T mis40--------
    VAR_0653974
    Factor VII deficiency (FA7D)4--see VAR_0653972 L V mis40--------
    VAR_0065194
    Factor VII deficiency (FA7D)4--see VAR_0065192 T M mis40--------
    VAR_0065134
    Factor VII deficiency (FA7D)4--see VAR_0065132 M V mis40--------
    VAR_0065104
    Factor VII deficiency (FA7D)4--see VAR_0065102 E K mis40--------
    VAR_0653924
    Factor VII deficiency (FA7D)4--see VAR_0653922 L P mis40--------
    VAR_0653884
    Factor VII deficiency (FA7D)4--see VAR_0653882 S F mis40--------
    VAR_0065124
    Factor VII deficiency (FA7D)4--see VAR_0065122 M I mis40--------
    VAR_0064994
    Factor VII deficiency (FA7D)4--see VAR_0064992 R W mis40--------
    VAR_0065084
    Factor VII deficiency (FA7D)4--see VAR_0065082 A V mis40--------
    VAR_0144184
    Factor VII deficiency (FA7D)4--see VAR_0144182 T M mis40--------
    VAR_0151434
    Factor VII deficiency (FA7D)4--see VAR_0151432 P R mis40--------
    VAR_0065024
    Factor VII deficiency (FA7D)4--see VAR_0065022 Q R mis40--------
    VAR_0654204
    Factor VII deficiency (FA7D)4--see VAR_0654202 R G mis40--------
    VAR_0144084
    Factor VII deficiency (FA7D)4--see VAR_0144082 L P mis40--------
    VAR_0653984
    Factor VII deficiency (FA7D)4--see VAR_0653982 L F mis40--------
    VAR_0654274
    Factor VII deficiency (FA7D)4--see VAR_0654272 Y F mis40--------
    VAR_0654044
    Factor VII deficiency (FA7D)4--see VAR_0654042 G S mis40--------
    VAR_0654054
    Factor VII deficiency (FA7D)4--see VAR_0654052 R C mis40--------
    VAR_0653914
    Factor VII deficiency (FA7D)4--see VAR_0653912 C R mis40--------
    VAR_0653744
    Factor VII deficiency (FA7D)4--see VAR_0653742 R G mis40--------
    VAR_0144174
    Factor VII deficiency (FA7D)4--see VAR_0144172 R C mis40--------
    VAR_0151424
    Factor VII deficiency (FA7D)4--see VAR_0151422 V F mis40--------
    VAR_0653764
    Factor VII deficiency (FA7D)4--see VAR_0653762 N D mis40--------
    VAR_0653714
    Factor VII deficiency (FA7D)4--see VAR_0653712 C R mis40--------
    VAR_0654264
    Factor VII deficiency (FA7D)4--see VAR_0654262 G D mis40--------
    VAR_0151384
    Factor VII deficiency (FA7D)4--see VAR_0151382 G D mis40--------
    VAR_0653964
    Factor VII deficiency (FA7D)4--see VAR_0653962 H Q mis40--------
    VAR_0065014
    Factor VII deficiency (FA7D)4--see VAR_0065012 G C mis40--------
    VAR_0144074
    Factor VII deficiency (FA7D)4--see VAR_0144072 C F mis40--------
    VAR_0654134
    Factor VII deficiency (FA7D)4--see VAR_0654132 F S mis40--------
    VAR_0654014
    Factor VII deficiency (FA7D)4--see VAR_0654012 R C mis40--------
    VAR_0065044
    Factor VII deficiency (FA7D)4--see VAR_0065042 K E mis40--------
    VAR_0653754
    Factor VII deficiency (FA7D)4--see VAR_0653752 R P mis40--------
    VAR_0653894
    Factor VII deficiency (FA7D)4--see VAR_0653892 A P mis40--------
    VAR_0065094
    Factor VII deficiency (FA7D)4--see VAR_0065092 R H mis40--------
    VAR_0653904
    Factor VII deficiency (FA7D)4--see VAR_0653902 A T mis40--------
    VAR_0653814
    Factor VII deficiency (FA7D)4--see VAR_0653812 L P mis40--------
    VAR_0654064
    Factor VII deficiency (FA7D)4--see VAR_0654062 L P mis40--------
    VAR_0653994
    Factor VII deficiency (FA7D)4--see VAR_0653992 L R mis40--------
    VAR_0654034
    Factor VII deficiency (FA7D)4--see VAR_0654032 W R mis40--------
    VAR_0654004
    Factor VII deficiency (FA7D)4--see VAR_0654002 R Q mis40--------
    VAR_0065064
    Factor VII deficiency (FA7D)4--see VAR_0065062 C Y mis40--------
    VAR_0144154
    Factor VII deficiency (FA7D)4--see VAR_0144152 D N mis40--------
    VAR_0065034
    Factor VII deficiency (FA7D)4--see VAR_0065032 P T mis40--------
    VAR_0653844
    Factor VII deficiency (FA7D)4--see VAR_0653842 P S mis40--------
    VAR_0653934
    Factor VII deficiency (FA7D)4--see VAR_0653932 D N mis40--------
    VAR_0653954
    Factor VII deficiency (FA7D)4--see VAR_0653952 T I mis40--------
    VAR_0065054
    Factor VII deficiency (FA7D)4--see VAR_0065052 R Q mis40--------
    VAR_0653854
    Factor VII deficiency (FA7D)4--see VAR_0653852 P L mis40--------
    VAR_0654164
    Factor VII deficiency (FA7D)4--see VAR_0654162 K E mis40--------
    VAR_0151364
    Factor VII deficiency (FA7D)4--see VAR_0151362 S P mis40--------
    VAR_0653794
    Factor VII deficiency (FA7D)4--see VAR_0653792 S F mis40--------
    VAR_0653824
    Factor VII deficiency (FA7D)4--see VAR_0653822 D N mis40--------
    VAR_0143914
    Factor VII deficiency (FA7D)4--see VAR_0143912 L P mis40--------
    VAR_0654074
    Factor VII deficiency (FA7D)4--see VAR_0654072 P H mis40--------
    rs1219649311,2
    Cprobable-pathogenic1113772832(+) CATCGC/TGCTGC 7 A V mis10--------
    rs1219649381,2
    Cuntested1113773084(+) CATGTC/G/TCTGTG 11 S C F mis10--------
    rs60461,2,,4
    C,F,Hother1113773159(-) TGCCCA/C/G/
            
    GGTAG
    7 Q R mis1 ese342MN NA NS EA WA EU 10951
    rs30932331,2
    C,F,A,H--113758130(+) CTGCTA/GCTCCG 4 -- us2k116Minor allele frequency- G:0.14NS EA NA WA CSA 2787
    rs1809043171,2
    --113758149(+) GGTCCA/TGCCCC 4 -- us2k10--------
    rs362330101,2
    C--113758187(+) ACAGAC/TGTGGG 4 -- us2k10--------
    rs30932341,2
    C,F--113758188(+) CAGACG/ATGGGA 4 -- us2k16Minor allele frequency- A:0.03NS NA WA 258
    rs362330131,2
    C--113758303(+) GGCCAT/CAGGCG 4 -- us2k11Minor allele frequency- C:0.03NS 40
    rs1431242091,2
    C--113758367(+) TAGCCC/TGGTTC 4 -- us2k10--------
    rs30932351,2
    C,F--113758405(+) GGCTGT/-CATGC 4 -- us2k11Minor allele frequency- -:0.12NS 40
    rs1150935331,2
    --113758419(+) GGTGAA/GGGTCC 4 -- us2k10--------
    rs30932631,2
    C,F--113758450(+) AGCCCC/GGAGGC 4 -- us2k14Minor allele frequency- G:0.01NS NA 142
    rs2007696221,2
    --113758564(+) GAAGG-/GTACCC
            
    TAAGA
    4 -- us2k10--------
    rs1456133971,2
    C--113758565(+) AAGGG-/TACC  
     CTAAGAC
    CAGCC
    4 -- us2k10--------
    rs362330041,2
    C--113758575(-) GGCTGA/GTCTTA 4 -- us2k10--------
    rs743488711,2
    C,F--113758674(+) CGAGAG/ACCGCG 4 -- us2k11Minor allele frequency- A:0.06EA 120
    rs30932641,2
    C,F--113758679(+) GCCGCG/AGGGAC 4 -- us2k14Minor allele frequency- A:0.00NS NA 2102
    rs1862288911,2
    --113758817(+) CCTGTA/CGGCCC 4 -- us2k10--------
    rs785954681,2
    C--113758954(-) GAGGGA/GGGGAG 4 -- us2k10--------
    rs756536581,2
    C--113759168(+) AGTCAC/TCACAG 4 -- us2k10--------
    rs30932361,2
    C,F--113759210(+) AATGAC/TGTGGA 4 -- us2k1 tfbs34Minor allele frequency- T:0.03NS WA 230
    rs1429692441,2
    --113759228(+) CAGCCA/GGGCAC 4 -- us2k10--------
    rs1915237021,2
    --113759303(+) GAGTTC/TGAAAC 4 -- us2k10--------
    rs362323611,2
    C,F--113759324(+) AACACG/AGTGAA 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs112695311,2
    C--113759354(+) AAAAA-/AAAAAATATATATATATAT
    ATATATATATATATATATAT
    /T
    ATATA
    7 -- us2k1 cds1 tfbs3 trp30--------
    rs7626351,2
    C,F,H--113759486(+) TCTCCA/CGCCTG 4 -- us2k114Minor allele frequency- C:0.13NS EA NA WA 916
    rs7626361,2
    C,F,H--113759526(+) ACAAAA/GCAAAA 4 -- us2k1 tfbs310Minor allele frequency- G:0.23NS NA WA EA 500
    rs104828391,2
    C,F--113759593(+) AAAACG/AGAGTG 4 -- us2k110Minor allele frequency- A:0.03NS NA WA 828
    rs1816694021,2
    --113759694(+) GGCAAC/TGGCCT 4 -- us2k10--------
    rs5103171,2
    C,F,H--113759754(+) GATACA/G/TGTCTT 4 -- us2k121EA PA CA WA NEA_ME EU NS NA CSA 1032
    rs2003018341,2
    --113759754(+) GATAC-/AGTCTT 4 -- us2k10--------
    rs5103351,2
    C,F,H--113759755(+) ATACAA/C/G/
            
    TCTTG
    4 -- us2k128NS EA NA PA CA WA NEA_ME EU CSA 2972
    rs2015042471,2
    --113759755(+) TACAG-/TTCTTG 4 -- us2k10--------
    rs1496474451,2
    --113759796(+) AGTTTG/TCATCT 4 -- us2k10--------
    rs1135376601,2
    C--113759830(+) TACATTCCTAT  
      ATCC
    /-
    TAGGG
    4 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs57429101,2
    C,F--113759831(+) ACATT-/CCTATATCC
    T
    /TCCTATATCC
    AGGGG
    4 -- us2k112NS EA PA CA WA NEA_ME EU 2770
    rs1443355341,2
    --113759853(+) AGATCA/GTATTT 4 -- us2k10--------
    rs104828421,2
    C,F--113760013(+) GCCAGG/CTGCAG 4 -- us2k15Minor allele frequency- C:0.05NS NA WA 212
    rs104828431,2
    C,F--113760026(+) CTCAGC/GTGGGG 4 -- us2k15Minor allele frequency- G:0.03NS NA CSA WA 212
    rs5612411,2
    C,F,O,H--113760034(-) TCTGAA/GCACCC 4 -- us2k1101Minor allele frequency- C:0.00EA NA NS PA EU CA WA 6958
    rs1871287911,2
    C--113760223(+) AGGTGC/TGTCCG 4 -- int10--------
    rs104828441,2
    C,F--113760227(+) GCGTCC/TGGGGA 4 -- int14Minor allele frequency- T:0.03NS CSA WA 213
    rs60391,2
    C,F,A--113760228(-) CTCCCC/TGGACG 4 -- int113Minor allele frequency- T:0.13NS NA WA CSA EA EU 2608
    rs1910307761,2
    --113760336(+) AGGAGA/GGTTTT 4 -- int10--------
    rs27740301,2
    C,F--113760415(+) TTGGTA/GGCCCA 4 -- int124Minor allele frequency- G:0.38NS NA WA CSA EA 3183
    rs792915911,2
    C,F--113760503(+) AGGTCG/AGACAA 4 -- int11Minor allele frequency- A:0.03WA 118
    rs362084141,2
    C--113760524(+) TCTGGA/GGCCTC 4 -- int10--------
    rs1832247401,2
    --113760788(+) GGTGTC/GGGGGA 4 -- int10--------
    rs1864738891,2
    --113760810(+) AAGGGC/TGTGTG 4 -- int10--------
    rs1172750791,2
    C,F--113760824(+) TGCAGG/AGGATG 4 -- int11Minor allele frequency- A:0.07NA 120
    rs30932371,2
    C,F--113760855(+) TGGGGT/CGTGTG 4 -- int15Minor allele frequency- C:0.21NS NA 288
    rs95493481,2
    --113760862(+) TGTGGA/GGTGTC 4 -- int10--------
    rs1897256381,2
    --113760885(+) TGTGGA/GGTGTG 4 -- int10--------
    rs1829380181,2
    --113760898(+) GGATGG/TGGCAT 4 -- int10--------
    rs1878955691,2
    --113760912(+) AAGGGC/TGTGTG 4 -- int10--------
    rs1397275441,2
    C--113760938(+) GCATG-/GGGAT 
     GGGGAGT
    GGGGG
    4 -- cds1 int10--------
    rs1929826811,2
    --113760940(+) CATGGA/GGGGGT 4 -- int10--------
    rs601537701,2
    C--113760941(+) TGGGG-/ATGGGGA
    GTGGG
    /TGT
    GGGTG
    7 -- cds1 int10--------
    rs1834034701,2
    --113760943(+) GGGGGG/TGTGGG 4 -- int10--------
    rs1872078261,2
    --113760970(+) GGGGCA/CTGGGA 4 -- int10--------
    rs1921297961,2
    --113760975(+) CTGGGA/GATGGT 4 -- int10--------
    rs1845736981,2
    C--113761156(+) TGCCCC/TAGGCG 4 -- int10--------
    rs1894096101,2
    C--113761160(+) CCAGGC/TGGGGT 5 G syn1 int10--------
    rs30932381,2
    C,F,H--113761202(+) ATGCCG/ATGGAA 5 /P syn1 int112Minor allele frequency- A:0.02NS NA WA 5208
    rs1911830461,2
    --113761296(+) CCCATA/GGCAAA 4 -- int10--------
    rs1141428951,2
    --113761490(+) GAGCTC/TTTCTG 4 -- int10--------
    rs1461974521,2
    --113761501(+) ATGCAA/CATCTG 4 -- int10--------
    rs286633571,2
    C,F--113761513(+) TTTCAC/TCCCAG 4 -- int16Minor allele frequency- T:0.29NA CSA WA EA 364
    rs1392270781,2
    --113761521(+) CAGGGC/TGGTCA 4 -- int10--------
    rs1846090641,2
    --113761522(+) AGGGCA/GGTCAC 4 -- int10--------
    rs1424934271,2
    C--113761590(+) GGGGGC/TGTGGG 4 -- int10--------
    rs1895249411,2
    --113761592(+) GGGCGA/TGGGTG 4 -- int10--------
    rs25156461,2
    C,F--113761602(+) GTCCCG/AGGAGT 4 -- int12Minor allele frequency- A:0.00NA 4
    rs714469361,2
    C--113761658(+) GGGGGA/CGTGGG 4 -- int11Minor allele frequency- C:0.00NA 2
    rs666169241,2
    C--113761689(+) CCCGGG/AGGCGT 4 -- int12Minor allele frequency- A:0.00NA 4
    rs714469371,2
    C--113761694(+) GGGCGT/AGGGTG 4 -- int11Minor allele frequency- A:0.00NA 2
    rs340891421,2
    C--113761755(+) GTCCCA/GGGGGC 4 -- int10--------
    rs289707611,2
    C,F--113761981(+) GGGAGT/CGTGGG 4 -- int11Minor allele frequency- C:0.00NA 2
    rs1889200221,2
    --113762146(+) GTCCCA/GGGGGC 4 -- int10--------
    rs2018904451,2
    C--113762197(+) GTTCCA/GGAGGC 4 -- int10--------
    rs1816518281,2
    --113762228(+) AGTGTC/TCCAGG 4 -- int10--------
    rs714469391,2
    C--113762236(+) AGGGGA/C/TGTGGG 4 -- int11NA 2
    rs31166671,2
    C--113762304(+) GGGGGA/C/TGTGGG 4 -- int10--------
    rs714469441,2
    C--113762594(+) GGGGTC/TGTGGG 4 -- int12Minor allele frequency- T:0.00NA CSA 3
    rs1863576891,2
    --113762798(+) AGGAGC/TGTGGG 4 -- int10--------
    rs1113760621,2
    C,F--113762807(+) GGTGTT/CCCGGA 4 -- int11Minor allele frequency- C:0.00CSA 1
    rs1115679451,2
    C,F--113762827(+) GTCCCA/GGGAGC 4 -- int11Minor allele frequency- G:0.00CSA 1
    rs767887971,2
    C--113762883(+) GGGGGC/AGTGGG 4 -- int11Minor allele frequency- A:0.00NA 2
    rs564119031,2
    C--113762964(+) TCCCGA/GGAGTG 4 -- int10--------
    rs559523641,2
    C--113762965(+) CCCGGA/GAGTGT 4 -- int10--------
    rs31348031,2
    C--113763006(+) GTGTGG/AGTGTC 4 -- int11Minor allele frequency- A:0.00NA 2
    rs1911576641,2
    C--113763236(+) GTCCCA/GGGAGC 4 -- int10--------
    rs744424051,2
    F--113763241(+) GGGAGT/CGTGGG 4 -- int11Minor allele frequency- C:0.00NA 2
    rs1825233841,2
    --113763275(+) GGGAGC/TGTGGG 4 -- int10--------
    rs1862549841,2
    C--113763278(+) AGCGTA/GGGTGT 4 -- int10--------
    rs1907883961,2
    --113763287(+) GTCCCA/GGGGGT 4 -- int10--------
    rs16252751,2
    C,F--113763348(-) GGACAC/TCCACT 4 -- int11Minor allele frequency- T:0.00NA 2
    rs31178871,2
    --113763447(+) GGGCGA/TGGGTG 4 -- int10--------
    rs795376311,2
    C--113763730(+) TTCCAA/TACCAG 4 -- int12Minor allele frequency- T:0.07CSA WA 119
    rs5714601,2
    C,F,H--113763788(-) GCCACC/TGCCTG 4 -- int122Minor allele frequency- T:0.04EA NA MN NS WA CSA 1787
    rs1478941671,2
    C--113763833(+) ACCTTC/GCGTCC 4 -- int10--------
    rs14759311,2
    C,F,H--113763926(+) GCCTCG/TTCCTC 4 -- int120Minor allele frequency- T:0.31MN NS EA NA CSA WA 2564
    rs1436433431,2
    C--113764147(+) ACGGCC/GCTCCC 4 -- int10--------
    rs1480989221,2
    --113764172(+) TCGGCC/TGTAGG 4 -- int10--------
    rs1919583631,2
    --113764210(+) CTGAGC/TGCACG 4 -- int10--------
    rs1829802681,2
    --113764257(+) GCCCCC/GTCTTC 4 -- int10--------
    rs362087541,2
    C,F--113764395(+) CTCAGG/AGGTCG 4 -- int15Minor allele frequency- A:0.30NA EA 246
    rs362087551,2
    C--113764519(+) GCCTCG/AGACCA 4 -- int12Minor allele frequency- A:0.00NA 4
    rs1502598481,2
    --113764522(+) TCGGAC/TCAGGA 4 -- int10--------
    rs17459391,2
    C,F,A--113764610(-) TCCGTG/ACAGCC 4 -- int114Minor allele frequency- A:0.23MN NA NS WA CSA EA 706
    rs4981871,2
    C--113764649(-) GGGCAC/ACCCCC 4 -- int17Minor allele frequency- A:0.03NA WA EA 366
    rs1443872371,2
    C--113764662(+) CACCC-/GGGGCC 4 -- int10--------
    rs27605631,2
    C--113764822(+) GGCGAC/AGGGGG 4 -- int11Minor allele frequency- A:0.00NA 2
    rs1390158821,2
    C--113765018(+) CCCAGA/GAGGAA 6 K E mis1 int10--------
    rs362087581,2
    C--113765158(+) GCGGAG/AAGGAC 6 /E syn1 int12Minor allele frequency- A:0.04NA 122
    rs1175402071,2
    C,F--113765185(+) GGGCGC/TCCCGC 4 -- int11Minor allele frequency- T:0.03EA 120
    rs1877012191,2
    --113765227(+) GCCGCA/GTGGGG 4 -- int10--------
    rs27740331,2
    C--113765235(+) GGGCCG/ACCTGC 4 -- int13Minor allele frequency- A:0.02NS NA EA 146
    rs1932927411,2
    --113765375(+) CTCCCC/GGTGCG 4 -- int10--------
    rs1843335291,2
    --113765572(+) CGGCAA/CCTCCT 4 -- int10--------
    rs2012737081,2
    --113765711(+) CAGGT-/CACCTCAC
    ACTCACAGGA
    CACCT
    4 -- int10--------
    rs1131541601,2
    C--113765727(+) ACAGGGC/-ACACC 4 -- int11Minor allele frequency- -:0.50CSA 2
    rs124308161,2
    C,H--113765829(+) CTCACA/GGGTCA 4 -- int10--------
    rs1117471271,2
    C--113765843(+) CACACC/TCACAG 4 -- int11Minor allele frequency- T:0.50WA 2
    rs720882421,2
    C--113766046(+) CTCAC-/CACT  
            
    ACAGG
    4 -- int10--------
    rs1137453471,2
    C--113766226(+) AGGGCG/ACACTT 4 -- int11Minor allele frequency- A:0.50NA 2
    rs1140064781,2
    C,F--113766353(+) GACACC/TTCACA 4 -- int11Minor allele frequency- T:0.04WA 118
    rs1486226961,2
    C--113766393(+) TCACAA/GGTCAC 4 -- int10--------
    rs1466441651,2
    --113766451(+) CTTCA-/CACT  
            
    CACAG
    4 -- int10--------
    rs1892774171,2
    --113766484(+) ACACCA/TCACAG 4 -- int10--------
    rs1120017181,2
    C,F--113766519(+) CCTCAC/TACAGG 4 -- int12Minor allele frequency- T:0.10WA 120
    rs559885341,2
    C--113766586(+) CAGTCC/TTACAG 4 -- int10--------
    rs557179241,2
    C--113766745(+) CTCATA/TCTCAC 4 -- int10--------
    rs1420663801,2
    C--113766819(+) CTCACA/GCAGAT 4 -- int10--------
    rs1923647021,2
    --113767002(+) ACCCAA/CAGGAC 4 -- int10--------
    rs1451537361,2
    C--113767027(+) CCTCA-/CACT  
            
    CACAG
    4 -- int10--------
    rs782829971,2
    C--113767030(+) CACAC-/TCAC  
            
    AGGAC
    4 -- int10--------
    rs1474189021,2
    --113767063(+) CCCACA/GGGACA 4 -- int10--------
    rs1397836171,2
    C--113767142(+) GACACA/CTCACA 4 -- int10--------
    rs1500199321,2
    --113767159(+) GGTCAA/CCTTAC 4 -- int10--------
    rs96040231,2
    C,F--113767236(+) CTCATA/TCTCAC 4 -- int13Minor allele frequency- T:0.17NA WA 6
    rs1840352911,2
    --113767298(+) CACAGA/GTCACA 4 -- int10--------
    rs1450080391,2
    C--113767336(+) GGACAC/TCTCCC 4 -- int10--------
    rs1414512691,2
    C--113767363(+) CACTC-/ATTATCTC 4 -- cds1 int10--------
    rs1389992821,2
    --113767382(+) AGGTCA/GCCACA 4 -- int10--------
    rs124313291,2
    C,F,H--113767394(+) CTCACA/GCTCAC 4 -- int16Minor allele frequency- G:0.28NS NA EA 286
    rs96040241,2
    C--113767428(+) CACATC/TTCATA 4 -- int12Minor allele frequency- T:0.14WA 120
    rs1887640851,2
    --113767582(+) GTTTTG/TAAAGC 4 -- int10--------
    rs1407368161,2
    C--113767662(+) AATCAA/CTTTTT 4 -- int10--------
    rs96040251,2
    C--113767706(+) TTGCAT/ACTGCT 4 -- int14Minor allele frequency- A:0.10NA WA 124
    rs1457747761,2
    --113767955(+) ACCCCA/GCCAGA 4 -- int10--------
    rs1384520521,2
    C--113768011(+) TTACCA/GTTGGG 4 -- int10--------
    rs2000480241,2
    C--113768034(+) GGTGCA/GTCTCA 4 -- int11Minor allele frequency- G:0.00EU 1323
    rs1416782431,2
    C--113768253(+) CCTTCA/GAGGGC 7 K E mis10--------
    rs2006938311,2
    C--113768273(+) GAGACA/GCGTAA 7 T syn10--------
    rs1815389031,2
    C--113768274(+) AGACGC/G/TGTAAG 11 H D Y mis10--------
    rs5711491,2
    F--113768327(+) TGGTGA/GAGGTG 4 -- int16Minor allele frequency- C:0.36EA NA 152
    rs1862377601,2
    --113768382(+) TAGGCC/TGGGCA 4 -- int10--------
    rs362087621,2
    C,F--113768531(+) CCCTCA/GAGATG 4 -- int10--------
    rs30932391,2
    C,F--113768585(+) CACCAC/TGCAGG 4 -- int14Minor allele frequency- T:0.03NS WA 246
    rs1384608251,2
    --113768586(+) ACCACA/GCAGGA 4 -- int10--------
    rs1825986031,2
    C--113768594(+) GGACCA/GCTTGG 4 -- int10--------
    rs1998352431,2
    --113768638(+) GTTTG-/AGGGGT 4 -- int10--------
    rs591360461,2
    C--113768639(+) TTTGA-/GGGGTT 4 -- int10--------
    rs362087631,2
    C--113768642(+) GAGGGG/TTTTGT 4 -- int12Minor allele frequency- T:0.06NS NA 38
    rs2017002681,2
    C--113768642(+) GAGGG-/GTTTGTT 4 -- int10--------
    rs2015759161,2
    --113768645(+) GGGTT-/TGTTTTT 4 -- int10--------
    rs30932401,2
    C,F,A,H--113768646(+) GGTTTT/GTTTTT 4 -- int13Minor allele frequency- G:0.39NA NS 44
    rs609013821,2
    C,F--113768646(+) GGGTT-/G/TG  
            
    TTTTT
    4 -- int14NS NA 92
    rs2007246121,2
    C--113768646(+) TTTTT-/GT/T  
            
    AACCA
    4 -- int10--------
    rs1136192101,2
    C--113768647(+) GTTTGT/-TTTTT 4 -- int11Minor allele frequency- -:0.50CSA 2
    rs1492358601,2
    --113768746(+) TCCACC/TGAAGT 4 -- int10--------
    rs1473613481,2
    --113768883(+) AATGAC/TGTGTG 4 -- int10--------
    rs30932411,2
    C,F--113768891(+) gtgacG/Aagacg 4 -- int15Minor allele frequency- A:0.02NS CSA WA 252
    rs1872100301,2
    --113768946(+) CAGAGA/GTTTTA 4 -- int10--------
    rs1908884591,2
    --113768959(+) AGGGCC/TCAATC 4 -- int10--------
    rs776417881,2
    C,F--113769202(+) CATCCT/ATGACC 4 -- int11Minor allele frequency- A:0.02EA 120
    rs30932651,2
    C,F--113769226(+) TTCTTA/CCACTG 4 -- int19Minor allele frequency- C:0.04NS NA 2384
    rs1809443521,2
    --113769249(+) TGTGCA/GGCAGC 4 -- int10--------
    rs1397423091,2
    --113769276(+) CAGAAA/GAGAGC 4 -- int10--------
    rs1853682261,2
    C--113769326(+) TGGTCA/CTCTGG 4 -- int10--------
    rs4910981,2
    C,F,H--113769346(+) GCCTGG/CAGATC 4 -- int125Minor allele frequency- C:0.13NS EA NA WA CSA 2554
    rs30932421,2
    C,F--113769428(+) ACTTGC/TTCAGG 4 -- int13Minor allele frequency- T:0.02NS 126
    rs1148267521,2
    F--113769473(+) CTGCCG/AGTTCT 4 -- int11Minor allele frequency- A:0.02WA 118
    rs1118899061,2
    F--113769533(+) GCGGGC/TTCACG 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs1486532871,2
    C--113769538(+) CTCACA/GGTGGT 4 -- int10--------
    rs30932431,2
    C,F--113769620(+) CTTGGA/GCACTT 4 -- int13Minor allele frequency- G:0.01NS 128
    rs1421664731,2
    --113769638(+) CCCCAC/TTGGAC 4 -- int10--------
    rs4938331,2
    C,F,A--113769639(+) CCCATT/GGGACT 4 -- int120Minor allele frequency- G:0.20NS NA WA CSA EA 1172
    rs726635611,2
    C--113769802(+) CTTGTC/TCTTTG 4 -- int10--------
    rs1902399321,2
    --113769831(+) GTGGTA/GCCAAG 4 -- int10--------
    rs1435729541,2
    --113769913(+) ACCCCA/GGGGGC 4 -- int10--------
    rs5695571,2
    C,F--113769917(+) CGGGGG/ACTGGC 4 -- int114Minor allele frequency- A:0.12NS NA WA EA 2692
    rs2000163601,2
    C--113770022(+) TGAGCA/GGTACT 7 Q R mis11Minor allele frequency- G:0.00EU 1115
    rs1438559201,2
    C,F--113770055(+) GCGCTC/TCTGTC 7 S F mis11Minor allele frequency- T:0.00NA 4538
    rs1482269631,2
    C,F--113770060(+) CCTGTC/TGGTGC 7 R W mis11Minor allele frequency- T:0.00NA 4538
    rs60421,2
    C,F,O,A,H--113770068(+) TGCCAC/TGAGGG 7 H syn1 ese337Minor allele frequency- T:0.12MN EA NS NA WA CSA EU 12609
    rs1407165991,2
    C--113770081(+) ACTCTC/GTGCTG 7 L V mis10--------
    rs60401,2
    C,F--113770092(+) GCAGAC/TGGGGT 7 D syn1 ese31Minor allele frequency- T:0.00NA 2020
    rs1828548451,2
    C--113770149(+) TGACAA/C/TCAGTC 4 -- int10--------
    rs30932441,2
    C,F,H--113770360(+) GACCAG/AGGGAG 4 -- int17Minor allele frequency- A:0.01NS EA 562
    rs1454130451,2
    --113770413(+) CCTCCA/GCCAGG 4 -- int10--------
    rs1491791241,2
    --113770435(+) TACTTC/TGGCAC 4 -- int10--------
    rs1175916911,2
    F--113770493(+) TAAAGG/CCTCCT 4 -- int11Minor allele frequency- C:0.01NA 120
    rs27740111,2
    H--113770580(+) ACTGTG/CTCTCA 4 -- int14Minor allele frequency- C:0.00NS EA 414
    rs1177816231,2
    F--113770630(+) CTCAGC/TCTGCC 4 -- int11Minor allele frequency- T:0.03EA 120
    rs104828451,2
    C,F,H--113770651(+) GCTTCC/TTTTCT 4 -- int1 trp312Minor allele frequency- T:0.03NS EA NA WA 1304
    rs1875272191,2
    C--113770662(+) GGCCCA/GAGACC 4 -- int10--------
    rs30932451,2
    C,F,H--113770669(+) GACCTT/CGATTG 4 -- int17Minor allele frequency- C:0.01NS EA 560
    rs1482159361,2
    C--113770761(+) AGTCAA/TACAAC 4 -- int10--------
    rs1915862791,2
    C--113770809(+) AAGACA/GTAAGC 4 -- int10--------
    rs4887031,2
    C,F,A,H--113770876(-) AGAGGC/TCCTTG 4 -- int137Minor allele frequency- T:0.14NS NA EA WA CSA 5452
    rs1838994241,2
    --113770906(+) TCAGGC/TCCAGC 4 -- int10--------
    rs1888420811,2
    C--113771030(+) TGGCAC/TGTTCA 4 -- int10--------
    rs1412191081,2
    C,F--113771107(+) ACCTAT/GTCTAG 7 /S /I mis11Minor allele frequency- G:0.00NA 4538
    rs1393095721,2
    C,F--113771160(+) GCAAGG/ATGTGC 7 /M /V mis11Minor allele frequency- A:0.00NA 4544
    rs1115103481,2
    C--113771319(+) ACACCT/-AGCAC 4 -- int11Minor allele frequency- -:0.50CSA 2
    rs1926187361,2
    C--113771375(+) GAAAAC/GAAAAC 4 -- int10--------
    rs1469298171,2
    --113771446(+) CACGTC/TGTCCT 4 -- int10--------
    rs116183991,2
    C,F,H--113771509(+) CATTGA/G/TATCAA 4 -- int15NS EA NA 420
    rs122320331,2
    H--113771595(+) CACGTC/ATCGGC 4 -- int14Minor allele frequency- A:0.00NS EA 416
    rs30932461,2
    C,F,H--113771623(+) TCCCAG/TAGCCA 4 -- int110Minor allele frequency- T:0.01NS EA NA WA 660
    rs1871153441,2
    --113771679(+) TTTCAA/GAAAGA 4 -- int10--------
    rs191923281