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

F7 Gene

protein-coding   GIFtS: 69
GCID: GC13P113760

coagulation factor VII (serum prothrombin conversion accelerator)

 Explore 85 diseases affiliated with
F7 via our new
 Human Malady Compendium 
Biological research products
for F7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coagulation Factor VII (Serum Prothrombin Conversion Accelerator)1 2     FVII Coagulation Protein2
Eptacog Alfa2 3     Proconvertin3
SPCA2 3     Proconvertin3
EC 3.4.21.213 8     Serum Prothrombin Conversion Accelerator3
Coagulation Factor VII2     EC 3.4.218

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

Entrez Gene summary for F7:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_027140.6  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for F7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Secreted
6/47 PDB 3D structures from and Proteopedia for F7 (see all 47):
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

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
  • View neXtProt modification sites for NX_P08709

  • 4/19 DME Specific Peptides for F7 (P08709) (see all 19)
     FEGRNCE  CGGTLIN  NGGSCKD  TGIVSWG 

    F7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000329546   ENSP00000364731   ENSP00000387669   ENSP00000442051  
    Reactome Protein details: P08709
    Human Recombinant Protein Products: 
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    Novus Biologicals F7 Proteins
    Novus Biologicals F7 Lysates
    Sino Biological Recombinant Protein for F7
    ProSpec Recombinant Protein for F7
    Uscn Proteins for F7

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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--


    F7 for ontologies           About GeneDecksing



    F7 Antibody Products: 
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    Uscn ELISAs and CLIAs for F7


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    F7 for domains           About GeneDecksing

    5/12 InterPro domains/families (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

    5/7 Blocks protein families (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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F7

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IPI3455766
    GO:0004175endopeptidase activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005102receptor binding IEA--
    GO:0005509calcium ion binding IEA--


    F7 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out F7tm1Pec for F7
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for F7):
     cardiovascular system  homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 

    F7 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins1.00
    Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus0.73
    Gamma-carboxylation of protein precursors0.82
    Warfarin Pathway, Pharmacodynamics0.67
    Removal of aminoterminal propeptides from gamma-carboxylated proteins0.82
    Extrinsic Pathway0.23
    2Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)1.00
    Blood Clotting Cascade0.36
    Blood Coagulation Signaling Pathways0.51
    3Complement and coagulation cascades
    Complement and coagulation cascades1.00
    Complement and Coagulation Cascades0.72
    4Circadian rhythm - mammal
    Circadian Clock0.41
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression0.23
    5Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    2 Downloadable PowerPoint Slides of QIAGEN 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

    5/13        Reactome Pathways for F7 (see all 13)
        Hemostasis
    Circadian Clock
    Expression of FACTOR VII (F7)
    Extrinsic Pathway
    Removal of aminoterminal propeptides from gamma-carboxylated proteins

    1 PharmGKB Pathway for F7
        Warfarin Pathway, Pharmacodynamics

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


    F7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for F7

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

    5/21 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
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    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--


    F7 for ontologies           About GeneDecksing



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

    F7 for compounds           About GeneDecksing

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

    Browse Tocris compounds for F7
    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--

    10/12 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----

    10/15 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about F7 / FA7 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Inhib. RNA
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    Additional cDNA 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:

    AI076552 AL531727 CB156039 AI076550 NM_000131 AA701917 BV199077 NM_019616 
    BX095482 AA256666 AA256665 AY423856 M78203 M13232 AA677801 AU099140 
    AL531726 AA133523 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™, 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

    F7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See F7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for F7

    SOURCE GeneReport for Unigene cluster: Hs.36989

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

        SABiosciences Custom PCR Arrays for F7
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for F7
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat F7
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat F7
    QIAGEN 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

    This gene was present in the common ancestor of chordates.

    Orthologs for F7 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F71 coagulation factor VII (serum prothrombin conversion more 59.68(n)
    57.11(a)
      395086  NM_204442.1  NP_989773.1 
    lizard
    (Anolis carolinensis)
    Reptilia F76
    --
    47(a)
    1 ↔ 1
    3(105930694-105943088)
    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
    Paralogs for F7 gene
    PROZ2  PAMR12  C1S2  C1R2  C1RL2  F92  MASP12  F102  
    F22  HPR2  HP2  PROC2  MASP22  
    18/56 SIMAP similar genes for F7 using alignment to 6 protein entries:     FA7_HUMAN (see all proteins) (see all similar genes):
    F2    F9    PROC1    DKFZp586F0824    F12    FBN2
    GAS6    MATN2    SNED1    HP    F9 p22    factor IX F9
    F10    PROC    TRY8    PRSS1    PRSS45    GZMK

    F7 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    476/477 NCBI SNPs in F7 are shown (see all 477    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs362095671,2
    C,pathogenic113772982(+) CACGGC/TCCTGG 7 A V nc-transcript-variantmis13Minor allele frequency- T:0.00NS NA 4440
    rs1219649261,2
    C,F,probable-pathogenic113773012(+) GCCCCG/AGCTGA 7 /Q /R nc-transcript-variantmis11Minor allele frequency- A:0.00NA 4352
    rs1219649381,2
    Cprobable-pathogenic113773084(+) CATGTC/G/TCTGTG 11 S C F nc-transcript-variantmis10--------
    rs1219649361,2
    C,probable-pathogenic113773145(+) CCACAG/TGCCAC 7 Q H nc-transcript-variantmis10--------
    rs60461,2
    C,F,H,other113773159(-) TGCCCA/C/G/
            
    GGTAG
    15 Q P R L mis1 ese342MN NA NS EA WA EU 10951
    rs30932601,2
    C,F,H,--94213913(+) TTGTCC/TGAGTG 1 -- us2k17Minor allele frequency- T:0.01NS EA 550
    rs776626461,2
    --94214024(+) GCCATG/CGTCAT 1 -- us2k12Minor allele frequency- C:0.12CSA WA 120
    rs789425581,2
    C,--94214036(+) GACAGA/CAAAGC 1 -- us2k10--------
    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--------
    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
    --113758367(+) TAGCCC/TGGTTC 4 -- us2k10--------
    rs30932351,2
    C,F,--113758405(+) AGGGCT/-TGCAT 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--------
    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,--113759324(+) AACACG/AGTGAA 4 -- us2k11Minor allele frequency- A:0.50WA 2
    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 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 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
    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
    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
    --113760938(+) GCATG-/GGGAT 
     GGGGAGT
    GGGGG
    4 -- int10--------
    rs1929826811,2
    --113760940(+) CATGGA/GGGGGT 4 -- 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 int1 syn10--------
    rs30932381,2
    C,F,H,--113761202(+) ATGCCG/ATGGAA 5 /P int1 syn112Minor 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
    --113761590(+) GGGGGC/TGTGGG 4 -- int10--------
    rs1895249411,2
    --113761592(+) GGGCGA/TGGGTG 4 -- int10--------
    rs25156461,2
    C,--113761602(+) GTCCCG/AGGAGT 4 -- int12Minor allele frequency- A:0.00NA 4
    rs666169241,2
    C--113761689(+) CCCGGG/AGGCGT 4 -- int12Minor allele frequency- A:0.00NA 4
    rs289707611,2
    C,--113761981(+) GGGAGT/CGTGGG 4 -- int11Minor allele frequency- C:0.00NA 2
    rs1889200221,2
    --113762146(+) GTCCCA/GGGGGC 4 -- int10--------
    rs1816518281,2
    --113762228(+) AGTGTC/TCCAGG 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,--113762807(+) GGTGTT/CCCGGA 4 -- int11Minor allele frequency- C:0.00CSA 1
    rs1115679451,2
    --113762827(+) GTCCCA/GGGAGC 4 -- int11Minor allele frequency- G:0.00CSA 1
    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
    --113763236(+) GTCCCA/GGGAGC 4 -- int10--------
    rs744424051,2
    --113763241(+) GGGAGT/CGTGGG 4 -- int11Minor allele frequency- C:0.00NA 2
    rs1825233841,2
    --113763275(+) GGGAGC/TGTGGG 4 -- int10--------
    rs1862549841,2
    --113763278(+) AGCGTA/GGGTGT 4 -- int10--------
    rs1907883961,2
    --113763287(+) GTCCCA/GGGGGT 4 -- int10--------
    rs16252751,2
    --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
    --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
    --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 nc-transcript-variantint1 mis10--------
    rs362087581,2
    C,--113765158(+) GCGGAG/AAGGAC 6 /E int1 syn12Minor 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--------
    rs1117471271,2
    C--113765843(+) CACACC/TCACAG 4 -- int11Minor allele frequency- T:0.50WA 2
    rs1140064781,2
    C,F,--113766353(+) GACACC/TTCACA 4 -- int11Minor allele frequency- T:0.04WA 118
    rs1486226961,2
    --113766393(+) TCACAA/GGTCAC 4 -- int10--------
    rs1466441651,2
    --113766451(+) CTTCA-/CACT  
            
    CACAG
    4 -- int10--------
    rs1892774171,2
    --113766484(+) ACACCA/TCACAG 4 -- int10--------
    rs1120017181,2
    C,--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
    --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,--113767236(+) CTCATA/TCTCAC 4 -- int13Minor allele frequency- T:0.17NA WA 6
    rs1840352911,2
    --113767298(+) CACAGA/GTCACA 4 -- int10--------
    rs1450080391,2
    --113767336(+) GGACAC/TCTCCC 4 -- int10--------
    rs1414512691,2
    C,--113767363(+) CACTC-/ATTATCTC 4 -- 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
    --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
    --113768011(+) TTACCA/GTTGGG 4 -- int10--------
    rs1416782431,2
    C,--113768253(+) CCTTCA/GAGGGC 7 K E mis10--------
    rs1505255361,2
    C,F,--113768260(+) GGGCCG/AGAACT 7 /Q /R mis12Minor allele frequency- A:0.00NA EU 5873
    rs1815389031,2
    C,--113768274(+) AGACGC/TGTAAG 7 H Y nc-transcript-variantmis10--------
    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,--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
    --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
    rs2015759161,2
    --113768645(+) GGGTT-/TGTTTTT 4 -- int10--------
    rs362092241,2
    C,,--113768646(+) GGTTTT/GTTTTT 4 -- int11Minor allele frequency- G:0.00NA 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
    --113769533(+) GCGGGC/TTCACG 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs1486532871,2
    --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
    rs1467958691,2
    C,--113770003(+) TGAACA/GAGAAC 7 K E mis10--------
    rs2000163601,2
    C--113770022(+) TGAGCA/GGTACT 7 Q R nc-transcript-variantmis11Minor 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 nc-transcript-variantmis11Minor 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 nc-transcript-variantmis10--------
    rs60401,2
    C,--113770092(+) GCAGAC/TGGGGT 7 D syn1 ese31Minor allele frequency- T:0.00NA 2020
    rs1828548451,2
    C,--113770149(+) TGACAA/CCAGTC 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
    --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
    --113770662(+) GGCCCA/GAGACC 4 -- int10--------
    rs30932451,2
    C,F,H,--113770669(+) GACCTT/CGATTG 4 -- int17Minor allele frequency- C:0.01NS EA 560
    rs1482159361,2
    --113770761(+) AGTCAA/TACAAC 4 -- int10--------
    rs1915862791,2
    --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 nc-transcript-variantmis11Minor allele frequency- G:0.00NA 4538
    rs1393095721,2
    C,F--113771160(+) GCAAGG/ATGTGC 7 /M /V nc-transcript-variantmis11Minor allele frequency- A:0.00NA 4544
    rs1115103481,2
    C,--113771319(+) ACACCT/-AGCAC 4 -- int11Minor allele frequency- -:0.50CSA 2
    rs1926187361,2
    --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--------
    rs1919232811,2
    --113771702(+) CCAGAA/GGTTCC 4 -- int10--------
    rs1845297331,2
    C,--113771773(+) CTCCTC/GTCCCC 4 -- int10--------
    rs1440766931,2
    F--113771792(+) GTCCTG/ATTGTT 7 /L syn11Minor allele frequency- A:0.00NA 4552
    rs5196501,2
    C,F,A,--113771917(+) TGGGTA/GCCACT 4 -- int12Minor allele frequency- G:0.01NA EU 1315
    rs104828471,2
    C,F--113771925(+) ACTCTC/TCCCTG 4 -- int13Minor allele frequency- T:0.00NS EU 1413
    rs1434259541,2
    C,--113771928(+) CTCCCA/CTGTCC 4 -- int10--------
    rs5649651,2
    C,F,A,--113771962(-) CAGGGA/GAGAGT 4 -- int14Minor allele frequency- G:0.31NA WA CSA EU 1130
    rs104828461,2
    F--113772038(+) TCTCCC/GCTGTC 4 -- int12Minor allele frequency- G:0.03NS 86
    rs1492879851,2
    --113772273(+) TAAAAC/TGATAA 4 -- int10--------
    rs735789551,2
    C,--113772310(+) CCTCAC/GTTGAC 4 -- int12Minor allele frequency- G:0.03WA 120
    rs1445680371,2
    --113772313(+) CACTTA/GACCAA 4 -- int10--------
    rs774613451,2
    C,--113772375(+) AGGGGG/TTCTGC 4 -- int10--------
    rs1900737051,2
    --113772450(+) GAATCA/GGGGCA 4 -- int10--------
    rs1487387531,2
    --113772456(+) GGGCAC/TGCCCT 4 -- int10--------
    rs30932471,2
    C,F,H--113772546(+) CCACAC/TGAGCC 4 -- int17Minor allele frequency- T:0.00NS EA 520
    rs456146351,2
    C,F,--113772567(+) ACCTGG/TGGCAG 4 -- int11Minor allele frequency- T:0.07NS 40
    rs60411,2
    C,F,H,--113772707(+) CCTGAG/AGGGGG 4 -- int124Minor allele frequency- A:0.12NS EA NA WA CSA EU 2941
    rs30932661,2
    C,F,H,--113772717(+) GCTTCT/CTCCTT 4 -- int1 trp315Minor allele frequency- C:0.01NS NA EA EU 3351
    rs771218221,2
    C,F,--113772772(+) CCGGCG/AGGTGG 7 /Q /R mis13Minor allele frequency- A:0.00WA NA EU 5931
    rs60451,2
    C,H--113772805(+) GTACGT/ACCCGG 7 /D /V nc-transcript-variantmis1 ese36Minor allele frequency- A:0.00MN EA NS NA 4928
    rs60431,2
    F--113772815(+) GGCACC/TACCAA 7 T nc-transcript-variantsyn1 ese32Minor allele frequency- T:0.01MN 288
    rs2003168401,2
    C,--113772833(+) ATCGCA/C/GCTGCT 11 A nc-transcript-variantsyn11EU 1187
    rs1425470101,2
    C--113772854(+) CAGCCC/TGTGGT 7 P nc-transcript-variantsyn11Minor allele frequency- T:0.00NA 4540
    rs2022404681,2
    --113772917(+) AGGACA/GCTGGC 7 T nc-transcript-variantsyn10--------
    rs1393726411,2
    C--113772930(+) TCGTGC/TGCTTC 7 R C mis11Minor allele frequency- T:0.00NA 4520
    rs30932671,2
    C,F,--113772975(+) GTGGCG/ACCACG 7 /T /A nc-transcript-variantmis1 ese37Minor allele frequency- A:0.00NS NA 6560
    rs1492832571,2
    C--113772995(+) CTCATG/AGTCCT 7 /I /M nc-transcript-variantmis11Minor allele frequency- A:0.00NA 4374
    rs1379192861,2
    C,F,--113773044(+) AGTCAC/TGGAAG 7 R W nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4408
    rs2010582761,2
    --113773045(+) GTCACA/GGAAGG 7 Q R mis10--------
    rs1459941931,2
    F--113773073(+) ATCACG/AGAGTA 7 /T syn11Minor allele frequency- A:0.00NA 4434
    rs60441,2
    C,F,H,--113773091(+) TGTGCC/TGGCTA 7 A syn112Minor allele frequency- T:0.00MN NS EA CSA WA NA 5914
    rs1904858161,2
    --113773092(+) GTGCCA/GGCTAC 7 S G nc-transcript-variantmis10--------
    rs30932481,2
    C,F,H--113773254(+) ACATCG/AAGTGG 7 /K /E nc-transcript-variantmis1 ese313Minor allele frequency- A:0.01NS EA NA CSA 1202
    rs1999794411,2
    --113773361(+) GGCTGC/TGTCGA 4 -- ut31 nc-transcript-variant0--------
    rs1437489411,2
    --113773393(+) ATATAA/TTCTTC 4 -- ut31 nc-transcript-variant0--------
    rs30932491,2
    C,F,--113773475(+) GAGAC-/AAAGAGA 4 -- ut31 nc-transcript-variant2Minor allele frequency- AA:0.16NS 76
    rs24763241,2
    A,--113773478(+) agacaA/Gagaca 4 -- nc-transcript-variantut310--------
    rs1807831321,2
    --113773628(+) GGGGAA/GTGCCA 4 -- nc-transcript-variantut310--------
    rs1154841651,2
    --113773712(+) TGCTGA/GCCTCA 4 -- nc-transcript-variantut310--------
    rs1394743051,2
    --113773732(+) TCTGCC/TTTCAT 4 -- ut31 nc-transcript-variant0--------
    rs1497169321,2
    C,--113773774(+) GGATG-/CACACAC 4 -- nc-transcript-variantut310--------
    rs362095701,2
    C,--113773803(+) CACAC-/AGAGATA 4 -- ut31 nc-transcript-variant0--------
    rs1166882541,2
    F,--113773855(+) TACGCA/CAACAC 4 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.05WA 118
    rs1442043501,2
    --113773927(+) TGCACA/GCACAT 4 -- ut31 nc-transcript-variant0--------
    rs1511090931,2
    --113773942(+) ATGCAC/TGCACA 4 -- nc-transcript-variantut310--------
    rs1852294301,2
    --113773960(+) GCACAC/TGGATG 4 -- ut31 nc-transcript-variant0--------
    rs30932501,2
    C,F,H,--113773961(+) GCATCA/C/G/
            
    GTGTG
    12 -- nc-transcript-variantut31 ese314NS EA NA 1528
    rs1411162081,2
    --113773980(+) ATGCAC/TACACC 4 -- ut31 nc-transcript-variant0--------
    rs1502395721,2
    --113773986(+) ACACCA/GATGTG 4 -- nc-transcript-variantut310--------
    rs30932511,2
    C,F,--113773995(+) GTGTGA/C/G/
            
    GCGCA
    12 -- ut31 nc-transcript-variantese313NS NA CSA WA 535
    rs1458378211,2
    --113774002(+) ACACAC/GATATG 4 -- nc-transcript-variantut310--------
    rs30932531,2
    C,F,H,--113774092(+) ACACCG/AATGCT 4 -- ut31 nc-transcript-variantese327Minor allele frequency- A:0.12NS NA EA WA CSA 2672
    rs797339131,2
    C,F,--113774210(+) GTGGCG/AAATGC 4 -- ut31 nc-transcript-variant2Minor allele frequency- A:0.06WA EA 238
    rs1810354321,2
    --113774216(+) AATGCC/TCCCAA 4 -- ut31 nc-transcript-variant0--------
    rs735789571,2
    C,--113774265(+) GGGCTG/ACACAG 4 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.50WA 2
    rs30932541,2
    C,F,H--113774313(+) GCTGCG/ATCTCC 4 -- nc-transcript-variantut31 ese315Minor allele frequency- A:0.03NS NA 3160
    rs1917007781,2
    --113774377(+) GAGCCC/TCCGGT 4 -- nc-transcript-variantut310--------
    rs1412194061,2
    --113774379(+) GCCCCC/TGGTGC 4 -- ut31 nc-transcript-variant0--------
    rs30932551,2
    C,F,H,--113774468(+) AAACAA/GAAGCT 4 -- ut31 nc-transcript-variantese321Minor allele frequency- G:0.03NS EA NA CSA WA 3594
    rs1835289161,2
    --113774499(+) TGTAGC/TTCCCA 4 -- nc-transcript-variantut310--------
    rs1889678631,2
    --113774501(+) TAGCTC/TCCAGG 4 -- nc-transcript-variantut310--------
    rs779527401,2
    C,--113774504(+) CTCCCA/CGGATC 4 -- ut31 nc-transcript-variant0--------
    rs30932561,2
    C,F,H,--113774562(+) TTTCAC/GAGAGA 4 -- nc-transcript-variantut31 ese311Minor allele frequency- G:0.02NS EA NA WA 800
    rs1469460281,2
    --113774595(+) GTCAGA/GGACAC 4 -- nc-transcript-variantut310--------
    rs30932571,2
    C,F,H,--113774597(+) CAGGGA/GCACAC 4 -- ut31 nc-transcript-variantese320Minor allele frequency- G:0.02NS EA NA CSA WA 3556
    rs1920847881,2
    --113774603(+) CACACA/GCATCA 4 -- nc-transcript-variantut310--------
    rs1170253991,2
    --113774705(+) AAACAC/TATGAA 4 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.01NA 120
    rs1380132941,2
    --113774764(+) AGCACA/GGCTCA 4 -- ut31 nc-transcript-variant0--------
    rs30932581,2
    C,F,H--113774797(+) CTGCAG/AGGCCG 4 -- nc-transcript-variantut31 ese37Minor allele frequency- A:0.00NS EA 558
    rs1394266991,2
    C,--113774849(+) ATTGG-/CACT  
            
    CACAG
    4 -- nc-transcript-variantut310--------
    rs454571941,2
    F--113774852(+) GGCACTCAC/-  
            
    AGCAG
    4 -- nc-transcript-variantut311Minor allele frequency- -:0.05NS 40
    rs343069251,2
    C,F--113774889(+) CTCGGG/AGGCAC 4 -- nc-transcript-variantut312Minor allele frequency- A:0.50NA 4
    rs1822745531,2
    --113774946(+) CGTGGG/TCTGCT 4 -- nc-transcript-variantut310--------
    rs30932591,2
    C,F,H,--113774971(+) CTCTTG/ATAAAT 4 -- ut31 nc-transcript-variantese311Minor allele frequency- A:0.02NS EA NA WA 788
    rs1869788581,2
    --113775139(+) TGCCCC/TCTAAA 5 -- int1 us2k10--------
    rs1433869641,2
    --113775150(+) CGGGAC/TGGGAG 5 -- int1 us2k10--------
    rs5114461,2
    C,F,A,H,--113775235(+) CTCATC/GTGTAA 5 -- int1 us2k120Minor allele frequency- G:0.05NS NA WA CSA 937
    rs1156257441,2
    F,--113775394(+) TGCCCG/AGGGCT 5 -- int1 us2k11Minor allele frequency- A:0.05WA 118
    rs4820201,2
    C,F,H,--113775437(+) AAGCCG/ACTCTG 5 -- us2k1 int120Minor allele frequency- A:0.02NA NS EA WA CSA 931
    rs1482695411,2
    --113775439(+) GCCACA/TCTGAC 5 -- int1 us2k10--------
    rs1413784031,2
    --113775471(+) AGGACC/TCTTCC 5 -- us2k1 int10--------
    rs1507713581,2
    --113775479(+) TCCTGA/GGAAGA 5 -- us2k1 int10--------
    rs557750581,2
    ----113760926(+) TGCAGA/GGGATG 4 -- int10--------
    rs2022224951,2
    ----113763469(+) GGGTG-/TTCCCG 4 -- int10--------
    rs1384707061,2
    ----113761161(+) CAGGCG/AGGGTC 5 /R /G int1 mis11Minor allele frequency- A:0.00NA 3882
    rs30206061,2
    ----113768690(+) GTTTAA/Gggccc 4 -- int10--------
    rs1497794771,2
    ----113772771(+) GCCGGC/TGGGTG 7 R W nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4500
    rs560158471,2
    ----113760907(+) ATGGAA/GAGGGC 4 -- int10--------
    rs1460357661,2
    ----113771855(+) GTCTCC/TGCGGC 7 S nc-transcript-variantsyn11Minor allele frequency- T:0.00NA 4552
    rs1998363521,2
    ----113767027(+) ACCTCA/TCACAG 4 -- int10--------
    rs1508374171,2
    ----113773285(+) AGAGCC/TACGCC 7 P L mis11Minor allele frequency- T:0.00NA 3394
    rs1115509561,2
    ----113763121(+) CGGGGG/TCGTGG 4 -- int11Minor allele frequency- T:0.50WA 2
    rs1405908041,2
    ----113772974(+) CGTGGC/TGCCAC 7 G nc-transcript-variantsyn11Minor allele frequency- T:0.00NA 4410
    rs362330121,2
    ----113758282(+) AAGGAA/CCCACA 4 -- us2k10--------
    rs767887971,2
    ----113762883(+) GGGGGC/AGTGGG 4 -- int11Minor allele frequency- A:0.00NA 2
    rs2018904451,2
    ----113762197(+) GTTCCA/GGAGGC 4 -- int10--------
    rs593775921,2
    ----113759353(+) AAAAA-/TATATATATA
    TATATATATATAT
    AATAT
    4 -- us2k10--------
    rs1219649301,2
    --probable-pathogenic113773177(+) CCTGAC/TGGGCA 7 T M nc-transcript-variantmis10--------
    rs1132122571,2
    ----113758242(+) GTCCCC/TGGGGC 4 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs2004786511,2
    ----113772728(+) CCAGGC/TGAGCA 7 G nc-transcript-variantsyn11Minor allele frequency- T:0.00EU 1267
    rs608456311,2
    ----113758406(+) GGCTG-/TCATGC 4 -- us2k10--------
    rs1137175381,2
    ----113771970(+) CTGTCC/TGACCG 4 -- int10--------
    rs2002529871,2
    ----113766953(+) ACTCA-/CGGGTCA 4 -- int10--------
    rs30932521,2
    ----113774024(+) atgagCACA/-  
            
    cacac
    4 -- nc-transcript-variantut311Minor allele frequency- -:0.02NS 42
    rs2001237191,2
    ----113759354(+) AAAAA-/TATATA 4 -- us2k10--------
    rs1504654701,2
    ----113760170(+) CAGGCC/TCTCAG 7 A nc-transcript-variantsyn11Minor allele frequency- T:0.00NA 4360
    rs2019913611,2
    ----113772855(+) AGCCCA/GTGGTC 7 M V nc-transcript-variantmis