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NF1 Gene

protein-coding   GIFtS: 69
GCID: GC17P029421

Neurofibromin 1

  See 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
Neurofibromin 11 2     neurofibromatosis1
Neurofibromatosis-Related Protein NF-12 3     Von Recklinghausen Disease1
NFNS2 5     Watson Disease1
VRNF2 5     neurofibromin2
WSS2 5     

External Ids:    HGNC: 77651   Entrez Gene: 47632   Ensembl: ENSG000001967127   OMIM: 6131135   UniProtKB: P213593   

Export aliases for NF1 gene to outside databases

Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567 GC17P026446 GC17P025632


(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 NF1 Gene:
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in
this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The
mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation
termination. Alternatively spliced transcript variants encoding different isoforms have also been described for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NF1 Gene:
NF1 (neurofibromin 1) is a protein-coding gene. Diseases associated with NF1 include neurofibromatosis, and 17q11 microdeletion syndrome. GO annotations related to this gene include Ras GTPase activator activity.

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
Function: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific
activity. May be a regulator of Ras activity

Gene Wiki entry for NF1 (Neurofibromin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NF1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NF1 promoter sequence
   Search Chromatin IP Primers for NF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NF1


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

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

NF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NF1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P029421:  view genomic region     (about GC identifiers)

Start:
29,421,945 bp from pter      End:
29,709,134 bp from pter
Size:
287,190 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NF1_HUMAN, P21359 (See protein sequence)
Recommended Name: Neurofibromin  
Size: 2839 amino acids; 319372 Da
Rna editing: Modified_positions=1306; Note=The stop codon (UGA) at position 1306 is created by RNA editing.
Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1.
Preferentially observed in transcripts containing exon 23A
Caution: Was originally (PubMed:8807336) thought to be associated with LEOPARD (LS), an autosomal dominant
syndrome
Sequence caution: Sequence=AAA59923.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
6 PDB 3D structures from and Proteopedia for NF1:
1NF1 (3D)        2D4Q (3D)        2E2X (3D)        3P7Z (3D)        3PEG (3D)        3PG7 (3D)    
Secondary accessions: O00662 Q14284 Q14930 Q14931 Q9UMK3
Alternative splicing: 6 isoforms:  P21359-1   P21359-2   P21359-3   P21359-4   P21359-5   P21359-6   

Explore the universe of human proteins at neXtProt for NF1: NX_P21359

Explore proteomics data for NF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1517
  • Modification sites at PhosphoSitePlus

  • See NF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000258.1  NP_001035957.1  NP_001121619.1  

    ENSEMBL proteins: 
     ENSP00000351015   ENSP00000348498   ENSP00000412921   ENSP00000462408   ENSP00000467284  
     ENSP00000463682   ENSP00000389907   ENSP00000463819   ENSP00000462157   ENSP00000467080  
     ENSP00000462700   ENSP00000464678   ENSP00000464702   ENSP00000465138   ENSP00000396481  
     ENSP00000398991  

    NF1 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NF1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NF1
    GenScript Custom Purified and Recombinant Proteins Services for NF1
    Novus Biologicals NF1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NF1

    NF1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NF1
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    Novus Biologicals NF1 Antibodies
    Abcam antibodies for NF1
    Cloud-Clone Corp. Antibodies for NF1
    ThermoFisher Antibody for NF1
    LSBio Antibodies in human, mouse, rat for NF1

    NF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NF1
    Cloud-Clone Corp. CLIAs for NF1


    (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 7):
     IPR001936 RasGAP
     IPR011989 ARM-like
     IPR008936 Rho_GTPase_activation_prot
     IPR001251 CRAL-TRIO_dom
     IPR023152 RasGAP_CS

    Graphical View of Domain Structure for InterPro Entry P21359

    ProtoNet protein and cluster: P21359

    2 Blocks protein domains:
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
    Domain: Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with
    monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine
    headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 Ras-GAP domain


    NF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NF1_HUMAN, P21359
    Function: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific
    activity. May be a regulator of Ras activity

         Genatlas biochemistry entry for NF1:
    neurofibromin,Ras GTPase activating protein related (280kDa),signal transduction),with at least four alternatively
    spliced transcripts,with a developmental and tissue specific regulation of expression,also a mRNA editing site in
    exon 23 creating an in-frame codon stop,putatively involved in suppression of NF1 tumor and in juvenile
    myelomonocytic leukemia

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005099Ras GTPase activator activity IDA1568247
    GO:0005488binding ----
    GO:0005515protein binding IPI11356864
    GO:0008429phosphatidylethanolamine binding IDA17187824
         
    NF1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for NF1:
     Decreased sensitivity to pacli  Increased cell number in G1, s  Stronger migration  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Nf1) (see all 24):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    NF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NF1: Nf1tm1Fcr Nf1tm2Tyj Nf1tm1Cbr Nf1tm1Tyj Nf1tm1.1Par

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NF1:
    hsa-mir-20a-3p (MIRT038968), hsa-mir-10b-5p (MIRT005504), hsa-let-7e-5p (MIRT051457), hsa-mir-370-3p (MIRT007052), hsa-mir-193b-3p (MIRT041324)

    Block miRNA regulation of human, mouse, rat NF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NF1 (see all 100):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-3074-3p hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidNF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NF1
    Predesigned siRNA for gene silencing in human, mouse, rat NF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NF1

    Clone
    Products:
         
    OriGene clones in human, mouse for NF1 (see all 14)
    OriGene ORF clones in mouse, rat for NF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NF1 (NM_002236)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NF1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    plasma membrane3
    cytoskeleton2
    extracellular2
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS1550670
    GO:0005737cytoplasm ISS1550670
    GO:0030424axon IDA1550670
    GO:0030425dendrite IDA1550670

    NF1 for ontologies           About GeneDecksing


    (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 NF1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Development VEGF signaling and activation
    Development VEGF signaling and activation0.75
    Development VEGF signaling via VEGFR2 generic cascades0.75
    3G protein signaling TC21 regulation pathway
    G protein signaling TC21 regulation pathway0.71
    G protein signaling M RAS regulation pathway0.71
    4ERK Signaling
    Molecular Mechanisms of Cancer0.51
    5Ras signaling pathway
    Ras signaling pathway0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NF1
        Molecular Mechanisms of Cancer
    Glioblastoma Multiforme

    4 GeneGo (Thomson Reuters) Pathways for NF1
        G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling and activation

    Selected BioSystems Pathways for NF1 (see all 7)
        MAPK signaling pathway
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma
    pilocytic astrocytoma
    ATF-2 transcription factor network


    2 Kegg Pathways  (Kegg details for NF1):
        MAPK signaling pathway
    Ras signaling pathway


    NF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NF1 (see all 6): 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Neurotrophins & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NF1

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

    Selected Interacting proteins for NF1 (P213591, 2, 3 ENSP000003510154) via UniProtKB, MINT, STRING, and/or I2D (see all 694)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 3, ENSP000002849814EBI-1172917,EBI-77613 I2D: score=3 STRING: ENSP00000284981
    YWHAEP622582, 3MINT-7947479 I2D: score=1 
    SUMO1P631652, 3, ENSP000003760764MINT-3380416 MINT-7947479 I2D: score=1 STRING: ENSP00000376076
    SDC2P347411, 3, ENSP000003070464EBI-1172917,EBI-1172957 I2D: score=3 STRING: ENSP00000307046
    DNAJC7Q996153, ENSP000004064634I2D: score=2 STRING: ENSP00000406463
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 67):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade ISS--
    GO:0001649osteoblast differentiation ISS--
    GO:0001656metanephros development ISS--
    GO:0001666response to hypoxia ISS--
    GO:0001889liver development ISS--

    NF1 for ontologies           About GeneDecksing



    (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 NF1

    Selected Novoseek inferred chemical compound relationships for NF1 gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mantgtp 61.7 1 12667087 (1)
    gtp 58.7 34 8262937 (2), 12667087 (2), 8626511 (2), 8437847 (2) (see all 21)
    gdp 38.3 9 8437847 (2), 8658179 (1), 10555980 (1), 12667087 (1) (see all 5)
    guanosine 34.3 10 1496380 (1), 8658179 (1), 9589427 (1), 8302341 (1) (see all 8)
    rapamycin 24.3 7 19634141 (1), 20154675 (1), 16267007 (1), 18316617 (1)
    succinate 13.7 1 17102089 (1)
    retinoic acid 12.3 3 9619634 (2), 7576949 (1)
    phosphatidylinositol 11.4 2 18271718 (1), 10398103 (1)
    tyrosine 7.37 9 16914719 (3), 15467451 (1), 17348023 (1), 16467864 (1) (see all 7)
    nacl 5.61 2 8262937 (1), 7887472 (1)



    NF1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NF1 gene (3 alternative transcripts): 
    NM_000267.3  NM_001042492.2  NM_001128147.2  

    Unigene Cluster for NF1:

    Neurofibromin 1
    Hs.113577  [show with all ESTs]
    Unigene Representative Sequence: NM_001042492
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000487476(uc002hge.2) ENST00000358273(uc002hgg.3) ENST00000356175(uc002hgh.3 uc010cso.3)
    ENST00000431387(uc002hgf.2) ENST00000579081 ENST00000489712 ENST00000495910(uc010csn.2)
    ENST00000490416 ENST00000456735 ENST00000493220(uc002hgi.1) ENST00000466819
    ENST00000479614 ENST00000581113 ENST00000479536 ENST00000584328 ENST00000581790
    ENST00000471572 ENST00000582892
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NF1 (see all 100):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-3074-3p hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidNF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NF1
    Clone
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    OriGene ORF clones in mouse, rat for NF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NF1 (NM_002236)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NF1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NF1
      QuantiTect SYBR Green Assays in human, mouse, rat NF1
      QuantiFast Probe-based Assays in human, mouse, rat NF1

    Additional mRNA sequence: 

    AB209336.1 AF055023.1 AF086346.1 AK026658.1 AK289936.1 AK301970.1 AK302063.1 BC144643.1 
    BX648717.1 D12625.1 D42072.1 M38106.1 M38107.1 M60496.1 M60915.1 M61213.1 
    M82814.1 M89914.1 

    Selected DOTS entries (see all 26):

    DT.91768398  DT.100752198  DT.318104  DT.100752196  DT.97799977  DT.65285211  DT.100752195  DT.100664689 
    DT.91965143  DT.101975503  DT.95286460  DT.97791842  DT.100749793  DT.414179  DT.97771427  DT.120972573 
    DT.120973050  DT.414180  DT.100739552  DT.100749794  DT.75174633  DT.95286423  DT.97796593  DT.75120933 

    Selected AceView cDNA sequences (see all 299):

    S51751 F03464 BM013806 AA347181 AW082977 AW173779 BQ773049 CD244261 
    BM354015 AI273054 AA765377 BX281196 AA885527 CB243676 AI653317 BF059714 
    M60915 AA770360 BM683129 C20818 T81221 AA744370 AA714845 BU619171 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NF1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                                  -                                         -                                                               
    SP2:                                                                                                                                                            
    SP3:                                                  -                                                                                                         
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for NF1

    (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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    NF1 expression in normal human tissues (normalized intensities)      NF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NF1 Expression
    About this image


    NF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Valve Cells Atrioventricular Valves
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
    NF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.113577

    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
    Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NF1 (see all 6): 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Neurotrophins & Receptors in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NF1
    QuantiTect SYBR Green Assays in human, mouse, rat NF1
    QuantiFast Probe-based Assays in human, mouse, rat NF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1

    (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 animals and fungi.

    Orthologs for NF1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nf11 , 5 neurofibromatosis 11, 5 91.58(n)1
    98.49(a)1
      11 (46.74 cM)5
    180151  NM_010897.21  NP_035027.11 
     793396935 
    chicken
    (Gallus gallus)
    Aves NF11 neurofibromin 1 83.83(n)
    95.52(a)
      396085  XM_004946786.1  XP_004946843.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    94(a)
    93(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343543.1(186580-194510)
    GL343543.1(78532-97063)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nf11 neurofibromin 1 79.61(n)
    92.09(a)
      100493879  XM_002936819.2  XP_002936865.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe06d032 Transcribed sequence with moderate similarity to protein more 75.63(n)    57060183 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nf11 , 3 cAMP-mediated signaling RAS GTPase
    activator3
    Neurofibromin 11
    55(a)3
    58.13(n)1
    60.43(a)1
      96F93
    431491  NM_170253.21  NP_733132.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRA2(YOL081W)4 GTPase-activating protein that negatively regulates more   --   15(171070-180309) 854073  NP_014560.1 


    ENSEMBL Gene Tree for NF1 (if available)
    TreeFam Gene Tree for NF1 (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 NF1 gene
    2 SIMAP similar genes for NF1 using alignment to 17 protein entries:     NF1_HUMAN (see all proteins):
    DKFZp686J1293    NF1 gene homologue

    NF1 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for NF1 (see all 9)
    PGOHUM00000239411 PGOHUM00000247700 PGOHUM00000258760 PGOHUM00000246630 PGOHUM00000246642


    (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 NF1 (see all 5447)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378545571,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129603554(+) AAGCTA/GTAAGT 6 Y C mis10--------
    rs1427127511,2,,4
    C,FNeurofibromatosis 1 (NF1)4 untested129612562(+) AAATAC/G/TTGATC 4 V L mis12NA EU 5397
    rs1378545661,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129618176(+) CTTCCC/G/TTTGTG 6 P R L mis10--------
    rs1994747401,2,,4
    CNeurofibromatosis 1 (NF1)4 untested129621122(+) CAAGCA/GTGGAA 4 M V mis10--------
    rs1994747641,2,,4
    CNeurofibromatosis 1 (NF1)4 untested129621882(+) TGCCAA/GCGTAG 4 N S mis10--------
    rs1994747321,2,,4
    CNeurofibromatosis 1 (NF1)4 untested129622145(+) CTGATC/G/TGGTTT 6 R G W mis10--------
    rs1378545561,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129624759(+) CTTCCA/C/GAGGCA 6 Q P R mis10--------
    rs1994747921,2,,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129723644(+) ATGGCC/TGTCAA 4 P L mis10--------
    VAR_0355434
    A colorectal cancer sample4--see VAR_0355432 L I mis40--------
    VAR_0324674
    Neurofibromatosis 1 (NF1)4--see VAR_0324672 S R mis40--------
    VAR_0324614
    Neurofibromatosis 1 (NF1)4--see VAR_0324612 D V mis40--------
    VAR_0026654
    Neurofibromatosis 1 (NF1)4--see VAR_0026652 Y N mis40--------
    VAR_0355454
    A breast cancer sample4--see VAR_0355452 G R mis40--------
    VAR_0355444
    A colorectal cancer sample4--see VAR_0355442 P L mis40--------
    VAR_0324744
    Neurofibromatosis 1 (NF1)4--see VAR_0324742 K E mis40--------
    VAR_0026604
    Neurofibromatosis 1 (NF1)4--see VAR_0026602 R W mis40--------
    rs797160811,2
    C--25640013(+) TTATTA/TTTTTT 3 -- int10--------
    rs286434821,2
    C,F--25645918(+) GTTTTG/TTTTTT 3 -- int1 trp32Minor allele frequency- T:0.50WA 4
    rs1493002591,2
    --25658978(+) TCACT-/ATTC  
            
    TTTTT
    3 -- int10--------
    rs359478901,2
    C--25666511(+) AAAAA-/AGGAAT 3 -- int10--------
    rs2016976381,2
    C--25667658(+) CGCTG-/TTTTTT 3 -- int10--------
    rs47955781,2
    C,A--25667668(+) tttttT/Gttttt 3 -- int14Minor allele frequency- G:0.46NA WA 124
    rs2000615031,2
    --25667668(+) TTTTT-/GTTTTT 3 -- int10--------
    rs358522461,2
    C--25726347(+) ATGTG-/AAAAAG 3 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs343912711,2
    C--25734201(+) AAATA-/TTTTTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs32169351,2
    C--25744239(-) CAAAA-/TATTTT
    TGTTCAAAA
    GTTTT
    6 -- int1 cds10--------
    rs673015671,2
    C--25754872(+) TCTTC-/T/TTCT
            
    TTTTT
    3 -- int12NA CSA 4
    rs353090991,2
    C--25800655(+) TAGAT-/AAGATA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs104454011,2
    A--25869512(+) ctattA/Taaaaa 2 -- int1 trp30--------
    rs178820941,2
    F--25873719(+) AAATTAAATT/
            
    GGTAG
    2 -- int11Minor allele frequency- -:0.01NS 174
    rs667080391,2
    C--25874030(+) CCATG-/TTTTTTT 2 -- int10--------
    rs339301671,2
    C--29423956(+) CTCTG-/CTTAATT 3 -- int10--------
    rs711420161,2
    C--29427026(-) AATTCT/-TTTTT 3 -- int11Minor allele frequency- -:0.00NA 2
    rs605271461,2
    C--29428075(+) TGTGGG/-ACCAG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs352446501,2
    C--29429366(+) ATAGC-/TTATTATT 3 -- int10--------
    rs711420171,2
    C--29429382(-) CAAAA-/AATAATAA 6 -- int1 cds11Minor allele frequency- AAT:0.00NA 2
    rs2015722521,2
    C--29436412(+) TTTTT-/TCTTTT 3 -- int10--------
    rs178788171,2
    C,F--29443956(+) TCCCAA/GAGTGC 3 -- int13Minor allele frequency- G:0.04NS WA CSA 184
    rs178785181,2
    C,F--29443980(+) ATGAGC/TCACTG 3 -- int11Minor allele frequency- T:0.01NS 180
    rs58199171,2
    C--29445311(+) GCTGAT/-TTTTT 3 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1118298221,2
    F--29446251(+) ACCGCA/GCCTGG 3 -- int11Minor allele frequency- G:0.00CSA 1
    rs99095801,2
    C,F--29455764(+) tgaaaC/Tcctgt 3 -- int11Minor allele frequency- T:0.00NA 2
    rs745921951,2
    C--29463809(+) TCTTA-/TAAAT 
            
    TAAAC
    3 -- int10--------
    rs178829461,2
    F--29463813(+) ATAAATTAAAC/-
            
    TTTTT
    6 -- int1 cds11Minor allele frequency- -:0.46NS 174
    rs558515541,2
    C--29463813(+) ATAAA-/TTAAA 
            
    CTTTT
    3 -- int11Minor allele frequency- TTAAA:0.00NA 2
    rs1125990931,2
    C,F--29465675(+) GGTGCT/AATCTC 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1437736121,2
    C--29465759(+) TTTTT-/TGTATT 3 -- int10--------
    rs563899531,2
    C--29465773(+) TTTTT-/T/TT  
            
    GTATT
    3 -- int11NA 2
    rs560507791,2
    C--29474594(+) TGTGT-/GT/TG 
            
    TCAGT
    3 -- int11NA 2
    rs724566951,2
    C--29478062(+) AAAAA-/ATAAATA 3 -- int10--------
    rs72138711,2
    C--29478063(+) aaaaaA/Taaata 3 -- int13Minor allele frequency- T:0.00WA NA 6
    rs3704760181,2
    C--29478063(+) AAAAA-/T/TA  
            
    AATAA
    3 -- int11NA 2
    rs779608001,2
    --29479192(+) ATTTTG/TGGGTT 3 -- int10--------
    rs725759931,2
    C--29479193(+) TTKGG-/GGTTTT 3 -- int10--------
    rs711420241,2
    C--29479195(-) AAAAA-/A/CCCCAA 3 -- int11NA 2
    rs1850366271,2
    C--29482075(+) TTTTGG/TACAAC 3 -- us2k10--------
    rs1902338921,2
    --29482129(+) CTGTAC/TGTGGG 3 -- us2k10--------
    rs1828740381,2
    --29482230(+) TTAGCA/GCGTGC 3 -- us2k10--------
    rs1881421101,2
    C--29482307(+) CAGCAC/TTTTGG 3 -- us2k10--------
    rs1916454771,2
    --29482315(+) TGGGAA/GGCCAA 3 -- us2k10--------
    rs178825681,2
    C,F--29482348(+) GGTCTTCT/-CATAG 3 -- int12Minor allele frequency- -:0.03NS CSA 182
    rs178793861,2
    C,F--29482372(+) ACATAG/ACAAGA 3 -- us2k13Minor allele frequency- A:0.02NS NA 302
    rs96752071,2
    C,F--29482538(+) actgcA/Gcagag 3 -- us2k13Minor allele frequency- G:0.15WA 122
    rs1116379661,2
    F--29482586(+) GGTAAA/TATGTA 3 -- us2k12Minor allele frequency- T:0.03CSA WA 120
    rs1834952681,2
    --29482593(+) TGTATC/TGAGGA 3 -- us2k10--------
    rs1879025301,2
    --29482594(+) GTATCA/GAGGAA 3 -- us2k10--------
    rs1925066321,2
    --29482670(+) TGGGAA/GGCTGA 3 -- us2k10--------
    rs1417666721,2
    C--29482683(+) TGGGCA/GGATCA 3 -- us2k10--------
    rs1446869471,2
    --29482886(+) GGTGAC/TAGGGT 3 -- us2k10--------
    rs349348911,2
    C--29482905(+) AAAATA/-TAGTC 3 -- us2k11Minor allele frequency- -:0.00NA 2
    rs178857171,2
    C,F--29482974(+) TGGATG/ATAATC 3 -- us2k11Minor allele frequency- A:0.01NS 150
    rs1438116671,2
    --29482980(+) TAATCC/TTCTTC 3 -- us2k10--------
    rs1472545481,2
    C--29483146(+) ACTCAA/GACCTT 3 -- us2k10--------
    rs178827861,2
    C,F,H--29483247(+) TGATAT/CGTATT 3 -- us2k1 tfbs37Minor allele frequency- C:0.01NS NA 974
    rs1493890501,2
    --29483314(+) ATGCAA/GGGCCT 3 -- us2k10--------
    rs1839467121,2
    --29483337(+) GAGGGG/TGGTGA 3 -- us2k10--------
    rs1148758071,2
    F--29483415(+) AAGCTG/AGGCTT 3 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1867388841,2
    --29483464(+) CCACCA/GGGTCT 3 -- us2k10--------
    rs178852211,2
    C,F--29483490(+) GCGACC/TTCTAA 3 -- us2k12Minor allele frequency- T:0.02NS NA 290
    rs178823321,2
    C--29483698(+) TTCCAA/GCTCCG 3 -- us2k11Minor allele frequency- G:0.01NS 154
    rs1447598361,2
    --29483907(+) TTTTCA/TTTAAT 3 -- us2k10--------
    rs178791281,2
    C,F,H--29483916(+) ATGAAA/CCCGGC 3 -- us2k16Minor allele frequency- C:0.02NS NA 746
    rs178788241,2
    C,F--29484651(+) TCCCTC/TCTAAG 3 -- int1 trp32Minor allele frequency- T:0.02NS WA 290
    rs178785921,2
    C,F--29484837(+) GTTCTC/TTCTTC 3 -- int1 trp31Minor allele frequency- T:0.01NS 166
    rs178783461,2
    C,F--29484839(+) TCTCTC/TTTCCT 3 -- int1 trp31Minor allele frequency- T:0.01NS 166
    rs29529941,2
    C,F,A,H--29484908(-) CCTATT/AGAGGG 3 -- int110Minor allele frequency- A:0.43NS NA WA EA 538
    rs1144686461,2
    F--29484952(+) TTCAGC/TTTCCT 3 -- int11Minor allele frequency- T:0.02WA 118
    rs178826891,2
    C,F--29485114(+) CACAGA/CCTGCC 3 -- int11Minor allele frequency- C:0.01NS 180
    rs29401841,2
    C,F,A,H--29485166(+) AAATAT/CCTTCC 3 -- int1 trp39Minor allele frequency- C:0.44NA WA EA 374
    rs1466299851,2
    C--29485203(+) CCCCCA/CCCCTT 3 -- int10--------
    rs178850941,2
    C,F--29485315(+) CCACCG/TACAAC 3 -- int11Minor allele frequency- T:0.01NS 166
    rs571433221,2
    C,F--29485363(+) CATTCC/TGCTAG 3 -- int11Minor allele frequency- T:0.50WA 2
    rs1480473581,2
    C--29485377(+) TTGTG-/GTTGTTTT 3 -- int10--------
    rs1897191131,2
    --29485379(+) GTGGTG/TGTTTT 3 -- int10--------
    rs178821981,2
    C,F--29485382(+) TGGTTGTT/-TTTGA 6 -- int1 cds11Minor allele frequency- -:0.04NS 180
    rs758011671,2
    C--29485386(+) TTTTTG/TACTCT 3 -- int10--------
    rs178837581,2
    C,F--29485487(+) TTCACA/CCAATA 3 -- int13Minor allele frequency- C:0.02NS WA 300
    rs116549201,2
    H--29485569(+) CTGTAG/TGTAGT 3 -- int10--------
    rs1817644671,2
    --29485609(+) GCTGTA/GGGTGC 3 -- int10--------
    rs1160859651,2
    C,F--29485625(+) GCTTCC/TTGTGA 3 -- int11Minor allele frequency- T:0.03WA 118
    rs178795901,2
    C,F--29485684(+) AATGGT/CAAAAC 3 -- int11Minor allele frequency- C:0.01NS 178
    rs1401480081,2
    --29485796(+) TGGAAC/TAGACA 3 -- int10--------
    rs1503260831,2
    --29485836(+) AAATAC/GAGTTA 3 -- int10--------
    rs58199161,2
    C--29486002(+) AAAGACT/-CTCTG 3 -- int11Minor allele frequency- -:0.00NA 2
    rs11232321,2
    C,F,H--29486038(-) TTCTAT/CGTGCC 3 -- int135Minor allele frequency- C:0.46NS EA WA NA CA CSAM 3888
    rs750182051,2
    C--29486068(+) TGTGGA/GCAGCA 3 -- int10--------
    rs1123926671,2
    F--29486104(+) ATCCAC/TGCCGC 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs1460130661,2
    --29486112(+) CGCAAG/TTCTCC 3 -- int10--------
    rs1841849331,2
    --29486138(+) TAAAAA/TTTTTT 3 -- int10--------
    rs1895171131,2
    C--29486417(+) CTACTC/TGGGAG 3 -- int10--------
    rs1818245791,2
    C--29486511(+) CAGAGC/TGAGAC 3 -- int10--------
    rs1389109381,2
    C--29486517(+) GAGACC/TCTTGT 3 -- int10--------
    rs711420151,2
    C--29486527(-) CCTCC-/TTTTTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs1851774371,2
    --29486802(+) CTGTCG/TCCCAC 3 -- int10--------
    rs746781141,2
    C,F--29486815(+) TGGAGC/TGCAGT 3 -- int11Minor allele frequency- T:0.50WA 2
    rs1463553541,2
    --29486833(+) TGTCGG/TTTCAT 3 -- int10--------
    rs1882284781,2
    --29486862(+) CATTCA/GCGTGA 3 -- int10--------
    rs1143515131,2
    F--29487013(+) CCCCCC/GACCCC 3 -- int11Minor allele frequency- G:0.01WA 118
    rs42392291,2
    C,F,A,H--29487218(-) CACTTC/ATATAA 3 -- int118Minor allele frequency- A:0.39NS EA NA CSA WA 2221
    rs1503930881,2
    C--29487310(+) GTGAC-/ATAGATC 3 -- int10--------
    rs1807263591,2
    C--29487470(+) TTCTTG/TCCTAG 3 -- int10--------
    rs1112844521,2
    F--29487481(+) GCTGGT/AGTGCA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1414454861,2
    --29487554(+) GCCTCC/TCAAGT 3 -- int10--------
    rs349411851,2
    C--29487635(+) CAGGCG/ATGAGC 3 -- int17Minor allele frequency- A:0.42NA WA EA 366
    rs1912379831,2
    --29487645(+) CCATCA/GCTTAC 3 -- int10--------
    rs1138641631,2
    C,F--29487727(+) GGGCGC/TGGCGG 3 -- int11Minor allele frequency- T:0.50WA 2
    rs620687851,2
    C--29487765(+) GAGGCT/CGAGGC 3 -- int13Minor allele frequency- C:0.17NA 6
    rs1836237851,2
    --29487775(+) CGGGCC/TGATCA 3 -- int10--------
    rs1860533571,2
    --29487878(+) CTGTAC/GTCCCA 3 -- int10--------
    rs1911758941,2
    --29487947(+) GAGCCA/GAGATT 3 -- int10--------
    rs1833038751,2
    --29488132(+) GCTAAC/GAGTTT 3 -- int10--------
    rs1429428721,2
    C--29488176(+) TGTGCA/GTGTCT 3 -- int10--------
    rs732716551,2
    C,F--29488474(+) AAGTAG/ATCACC 3 -- int11Minor allele frequency- A:0.50WA 2
    rs768191021,2
    C,F--29488485(+) TCCTTG/AGTTAG 3 -- int11Minor allele frequency- A:0.02WA 118
    rs759153931,2
    C,F--29488597(+) TCTAAT/CTGAAA 3 -- int11Minor allele frequency- C:0.02NA 120
    rs349057951,2
    C--29488626(+) GTAGC-/TTTTTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs1401813001,2
    C--29488714(+) TCTGCC/TTCCTG 3 -- int10--------
    rs1877848101,2
    --29488827(+) TCACCA/GTGTTG 3 -- int10--------
    rs1439044201,2
    --29488862(+) CTTCAA/GGTGAT 3 -- int10--------
    rs3764434231,2
    C--29488916(+) GCCACC/GCGCCC 3 -- int10--------
    rs44854271,2
    C,F,A,H--29488994(-) CTAGGG/TGAGAT 3 -- int17Minor allele frequency- T:0.02NS EA NA WA 540
    rs1923841551,2
    --29489037(+) TATTTA/CTGAAG 3 -- int10--------
    rs2005066181,2
    C--29489073(+) TTGAAA/CTAAAA 3 -- int10--------
    rs1454393641,2
    --29489160(+) TTTCCA/GTATCT 3 -- int10--------
    rs1484073461,2
    C--29489220(+) ATGTTA/GTGGAA 3 -- int10--------
    rs744840771,2
    F--29489259(+) CATATT/CTGTTG 3 -- int11Minor allele frequency- C:0.01NA 120
    rs1169638501,2
    F--29489276(+) TACATT/GGAGTG 3 -- int11Minor allele frequency- G:0.01NA 120
    rs1425494751,2
    C--29489307(+) ATATGC/TGGTGA 3 -- int10--------
    rs1509515281,2
    --29489308(+) TATGCA/GGTGAG 3 -- int10--------
    rs1179844231,2
    --29489348(+) ATCTTC/TGAAAT 3 -- int11Minor allele frequency- T:0.01EA 120
    rs1175666691,2
    F--29489349(+) TCTTCG/AAAATT 3 -- int11Minor allele frequency- A:0.01EA 120
    rs767600381,2
    F--29489358(+) TTACAA/GACCAC 3 -- int11Minor allele frequency- G:0.01NA 120
    rs1826551581,2
    C--29489420(+) AATATC/TTCCTA 3 -- int10--------
    rs1880001411,2
    --29489502(+) GGTGAC/TGAATT 3 -- int10--------
    rs1929109961,2
    --29489606(+) TTTTTA/TAATTT 3 -- int10--------
    rs1844494081,2
    C--29489696(+) AGTGGC/TGCGAT 3 -- int10--------
    rs344942431,2
    C,F--29489783(+) GGCGCG/ATGCCA 3 -- int13Minor allele frequency- A:0.50NA 6
    rs1459339431,2
    --29489923(+) GCCACC/TGTGCC 3 -- int10--------
    rs1478361841,2
    C--29489924(+) CCACCA/GTGCCC 3 -- int10--------
    rs1413871041,2
    --29489926(+) ACCGTA/GCCCGG 3 -- int10--------
    rs1888462571,2
    --29490079(+) CTTTCC/TCTTGG 3 -- int10--------
    rs766446591,2
    F--29490094(+) CAGACG/ATTTAC 3 -- int11Minor allele frequency- A:0.08WA 118
    rs1127583301,2
    F--29490165(+) TCACCG/ACCTCT 3 -- int12Minor allele frequency- A:0.02CSA WA 120
    rs779166831,2
    F--29490308(+) TTCCAC/TTCCCC 3 -- int11Minor allele frequency- T:0.03WA 118
    rs1503780041,2
    C--29490353(+) ATACTC/TTTCTA 3 -- int10--------
    rs1919583101,2
    --29490370(+) TGGAGC/TTCCTT 3 -- int10--------
    rs29529861,2
    H--29490474(-) CATTTC/TTTTTT 3 -- int1 trp34Minor allele frequency- T:0.00NS EA 418
    rs773701861,2
    C,F--29490518(+) ATATTC/TGATGA 3 -- int11Minor allele frequency- T:0.01NA 120
    rs1386855371,2
    --29490519(+) TATTCA/GATGAT 3 -- int10--------
    rs1847555661,2
    --29490522(+) TCGATG/TATTTT 3 -- int10--------
    rs1904720951,2
    --29490593(+) TTACCA/GAACTC 3 -- int10--------
    rs1167746131,2
    F--29490651(+) CAGTCT/ACTTCT 3 -- int11Minor allele frequency- A:0.02WA 118
    rs1808700021,2
    --29490685(+) TTCTTA/GGCCTT 3 -- int10--------
    rs1860658871,2
    C--29490823(+) CTCTGC/GTATCT 3 -- int10--------
    rs1493557531,2
    C--29490825(+) CTGCTA/GTCTCA 3 -- int10--------
    rs1436762361,2
    --29490982(+) AGAACA/GCTATT 3 -- int10--------
    rs1897510931,2
    --29491092(+) GCTAAA/TTAAAA 3 -- int10--------
    rs1812073611,2
    --29491094(+) TAAATA/TAAAAA 3 -- int10--------
    rs1148725911,2
    F--29491221(+) TATACA/GTATTT 3 -- int11Minor allele frequency- G:0.01WA 118
    rs1862079091,2
    --29491282(+) GATCAA/GCTACT 3 -- int10--------
    rs1907221351,2
    --29491525(+) AGTAGG/TCCAGG 3 -- int10--------
    rs44946101,2
    C,F,A--29491600(-) TTGAAC/TTCAAG 3 -- int111Minor allele frequency- T:0.43NA WA CSA EA 373
    rs1829155881,2
    --29491774(+) GCTTCA/GGTGAC 3 -- int10--------
    rs1864738121,2
    --29492188(+) CATAAA/GCTGTG 3 -- int10--------
    rs1429038811,2
    --29492288(+) AGATTC/GTTTTC 3 -- int10--------
    rs1921108661,2
    --29492344(+) TTTCTC/TGCCTA 3 -- int10--------
    rs129404741,2
    C,A--29492550(+) tgatcT/Cgcccg 3 -- int15Minor allele frequency- C:0.10NA 10
    rs1389688301,2
    C--29492597(+) ACCACC/TGTGCC 3 -- int10--------
    rs2021604141,2
    --29492934(+) AAAAG-/AAAAAA 3 -- int10--------
    rs129398151,2
    C,F,A--29492961(+) CAAGTG/CTGGTA 3 -- int18Minor allele frequency- C:0.43NA WA EA 368
    rs129502361,2
    C,F,A--29493079(+) TCAAAA/GAAAAT 3 -- int19Minor allele frequency- G:0.43NA WA EA 370
    rs1157168851,2
    F--29493233(+) TTGTTC/ATTTAA 3 -- int11Minor allele frequency- A:0.02WA 118
    rs178801551,2
    C,F--29493302(+) TTCTAT/CGTAGA 3 -- int11Minor allele frequency- C:0.01NS 174
    rs1878395941,2
    --29493345(+) TAAGGA/GTAAGC 3 -- int10--------
    rs1422128721,2
    --29493354(+) GCAGCA/GTATTA 3 -- int10--------
    rs1509110791,2
    C--29493398(+) GTCTGC/TGTATA 3 -- int10--------
    rs1927568131,2
    --29493428(+) TATAAG/TTCAAG 3 -- int10--------
    rs98990631,2
    C,F,H--29493452(+) CGGAAG/AGCTCT 3 -- int115Minor allele frequency- A:0.13NS EA NA WA 1654
    rs178825411,2
    C,F,H--29493548(+) ATACCG/AAAGCA 3 -- int112Minor allele frequency- A:0.01NS EA NA 1592
    rs110801421,2
    H--29493671(+) AGGGAG/CAGATG 3 -- int1 trp34Minor allele frequency- C:0.00NS EA 418
    rs178849761,2
    C--29493720(+) TTTACG/ATTGTA 3 -- int11Minor allele frequency- A:0.01NS 180
    rs1868723121,2
    --29493741(+) ATTAAA/GTTTAA 3 -- int10--------
    rs178830111,2
    C,F--29493771(+) TTTCTG/ATATCA 3 -- int12Minor allele frequency- A:0.02NS WA 296
    rs178790641,2
    C,F--29493829(+) ATGCTA/GTAGGA 3 -- int12Minor allele frequency- G:0.02NS CSA 178
    rs178788481,2
    C,F--29493843(+) AAACTA/GTAACT 3 -- int12Minor allele frequency- G:0.02NS NA 290
    rs178785491,2
    C,F--29493928(+) TATATA/GGTTAT 3 -- int15Minor allele frequency- G:0.05NS NA WA 300
    rs1498738581,2
    C--29494023(+) AGTGCA/TGTGGT 3 -- int10--------
    rs178811211,2
    C,F--29494041(+) TAGCTC/TACCAT 3 -- int11Minor allele frequency- T:0.01NS 176
    rs1403980491,2
    --29494058(+) GAACTC/GCTGGG 3 -- int10--------
    rs178859601,2
    C,F--29494300(+) AAAAAG/ACTTCT 3 -- int11Minor allele frequency- A:0.01NS 176
    rs1841777691,2
    --29494523(+) GCTGTC/TGCCTG 3 -- int10--------
    rs1905735741,2
    --29494568(+) TTCCAC/TTGAAC 3 -- int10--------
    rs1932428811,2
    --29494604(+) TGGAGA/TTTTGC 3 -- int10--------
    rs1844853881,2
    --29494726(+) GCATGC/TGCCAC 3 -- int10--------
    rs2010315971,2
    --29494749(+) TTTTG-/TTTTTT 3 -- int10--------
    rs178824211,2
    C,F--29494788(+) GGTCAG/AGCTAG 3 -- int11Minor allele frequency- A:0.02NS 172
    rs20012871,2
    C,F,A--29494821(+) GATCCT/GCCTGC 3 -- int15Minor allele frequency- G:0.47NS NA 178
    rs178837651,2
    C,F--29494836(+) GCCTCC/TCAAAG 3 -- int11Minor allele frequency- T:0.01NS 168
    rs575485301,2
    C--29494937(+) CCCACC/TCCCAC 3 -- int12Minor allele frequency- T:0.19WA 120
    rs1413460171,2
    --29495032(+) ACTTAC/TTTTTA 3 -- int10--------
    rs1426606221,2
    --29495075(+) GGGAAA/GTTATG 3 -- int10--------
    rs1510038171,2
    --29495120(+) TTGACA/CCGGTT 3 -- int10--------
    rs1409057261,2
    --29495122(+) GACACA/GGTTTC 3 -- int10--------
    rs1504024171,2
    --29495209(+) ATGTAC/GTAAAA 3 -- int10--------
    rs1151973891,2
    F--29495235(+) TGTGCA/GACTTG 3 -- int11Minor allele frequency- G:0.01WA 118
    rs1807661431,2
    --29495423(+) AGTATC/TTTTTT 3 -- int10--------
    rs1382201131,2
    --29495464(+) TATTTC/GTACTC 3 -- int10--------
    rs178796141,2
    C,F--29495532(+) TAACTG/AAGTTA 3 -- int11Minor allele frequency- A:0.01NS 176
    rs1112973681,2
    F--29495644(+) GGGATG/ATATGA 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1389404941,2
    C--29495816(+) AAACTA/TCTTCA 3 -- int10--------
    rs1842350121,2
    --29496282(+) TTTTGG/TGTAAT 3 -- int10--------
    rs1885194391,2
    --29496312(+) GCACAG/TTATTT 3 -- int10--------
    rs1816166121,2
    --29496325(+) TTCCCC/TGTTAT 3 -- int10--------
    rs1869687301,2
    --29496513(+) TTGTAA/GAGACG 3 -- int10--------
    rs1921066611,2
    --29496639(+) TCTGTA/CTCTGA 3 -- int10--------
    rs732716671,2
    C,F--29496775(+) AGAACG/ATGTTT 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1822867261,2
    --29496827(+) ATGGTA/GGTCAG 3 -- int10--------
    rs1870650431,2
    --29496951(+) AATCCC/TAGCAC 3 -- int10--------
    rs2006449881,2
    C--29496964(+) TGGGAA/GGTGGG 3 -- int10--------
    rs561808441,2
    C--29497347(+) TTTTT-/TTT   
       TTTTT
    CTGAG
    3 -- int11Minor allele frequency- TTTTTTTT:0.00NA 2
    rs1448038911,2
    --29497402(+) GGCACA/GATCTT 3 -- int10--------
    rs1910785781,2
    --29497459(+) CAGCCA/TCCCGA 3 -- int10--------
    rs1481640341,2
    --29497462(+) CCTCCC/TGAGTA 3 -- int10--------
    rs1820633191,2
    --29497494(+) CACCAC/TGCCTG 3 -- int10--------
    rs1420327961,2
    C--29497528(+) AGAGAC/GAGGGT 3 -- int10--------
    rs129529751,2
    C,A--29497532(+) ACAGGT/GTTTTG 3 -- int15Minor allele frequency- G:0.50NA EA 128
    rs1142321351,2
    F--29497562(+) CTCGAA/TCTCCT 3 -- int11Minor allele frequency- T:0.05WA 118
    rs1178019911,2
    C,F--29497861(+) CTTAAC/TTTTCT 3 -- int11Minor allele frequency- T:0.01NA 120
    rs1471277441,2
    --29497988(+) GATCTA/GTGAGA 3 -- int10--------
    rs1451353701,2
    C--29498003(+) AAGAT-/AGGAGGTA 3 -- int10--------
    rs1403042581,2
    C--29498042(+) CTAAAC/GTCAAA 3 -- int10--------
    rs1870250521,2
    C--29498223(+) TTGCAA/GCAACA 3 -- int10--------
    rs1900918231,2
    --29498294(+) CATTTC/TTCTTA 3 -- int10--------
    rs1830234311,2
    --29498404(+) GATGAC/GTCTCA 3 -- int10--------
    rs1885943291,2
    C--29498431(+) GATTTA/GAAGAT 3 -- int10--------
    rs1931293501,2
    C--29498508(+) AATGGC/TGCGAT 3 -- int10--------
    rs1442689911,2
    --29498517(+) ATCTCA/GGCTCA 3 -- int10--------
    rs1857789421,2
    --29498533(+) ACCTCC/TGCCTC 3 -- int10--------
    rs44353171,2
    C,F,A--29498558(-) AGACAG/CAAGAA 3 -- int19Minor allele frequency- C:0.44NA EA 388
    rs1886391231,2
    --29498620(+) TTTTTA/GTATTT 3 -- int10--------
    rs747281671,2
    C--29498768(+) ACTAGA/CACAAT 3 -- int12Minor allele frequency- C:0.04NA 122
    rs1473837391,2
    C--29498836(+) CATGGA/GCTCTA 3 -- int10--------
    rs1148781051,2
    F--29498879(+) ATCCTA/CATGTA 3 -- int11Minor allele frequency- C:0.02WA 118
    rs1914673021,2
    --29498966(+) TTATCC/TATTGT 3 -- int10--------
    rs1395861041,2
    --29499003(+) TCCTTA/GTAAAT 3 -- int10--------
    rs788807021,2
    C,F--29499140(+) TCGTGT/CGATTT 3 -- int11Minor allele frequency- C:0.04NA 120
    rs732716681,2
    C,F--29499142(+) GTGTGA/TTTTCT 3 -- int12Minor allele frequency- T:0.04WA 120
    rs1499290881,2
    C--29499331(+) ATTGGA/CGAGCT 3 -- int10--------
    rs1450386771,2
    --29499343(+) TGGATA/GTAATG 3 -- int10--------
    rs1491002011,2
    --29499420(+) ATTTGC/GTGATT 3 -- int10--------
    rs1422268631,2
    --29499507(+) TTCAAC/TTCCTG 3 -- int10--------
    rs1836203371,2
    --29499614(+) CTTTCA/GTTTAT 3 -- int10--------
    rs1501730201,2
    C--29499664(+) GGTGG-/AAAAAT 3 -- int10--------
    rs1465367611,2
    --29499691(+) ACTTAC/TAGAAG 3 -- int10--------
    rs1412407021,2
    --29499748(+) TAACTA/GTAATA 3 -- int10--------
    rs1450168101,2
    --29499845(+) ATTCTA/GGGAAT 3 -- int10--------
    rs1388589071,2
    --29500036(+) CTATGC/TCTGTT 3 -- int10--------
    rs1405191501,2
    --29500065(+) CCAGGA/GCTTAG 3 -- int10--------
    rs1888716191,2
    --29500183(+) AATTAG/TTCATT 3 -- int10--------
    rs1812517771,2
    --29500193(+) TGTACC/TGGTTC 3 -- int10--------
    rs1504549191,2
    --29500351(+) CTAATA/GTGTAA 3 -- int10--------
    rs1113651501,2
    F--29500484(+) TGGCAC/TGTGCC 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs42630031,2
    C,F,H--29500554(-) ttaagA/Cgtttc 3 -- int117Minor allele frequency- C:0.46NS EA NA WA CSA 1122
    rs1853138541,2
    --29500565(+) AAGCAG/TCCAGA 3 -- int10--------
    rs45599631,2
    C,F,A,H--29500604(-) tatatC/Tgttcc 3 -- int122Minor allele frequency- T:0.42NS EA NA WA 2482
    rs1903169451,2
    --29500663(+) AACAGA/GCATTT 3 -- int10--------
    rs1382734031,2
    --29500724(+) AAATAC/TCCTTC 3 -- int10--------
    rs801162841,2
    C,F--29501287(+) ACCATT/CACAAA 3 -- int11Minor allele frequency- C:0.02NA 120
    rs1815164591,2
    --29501291(+) TTACAA/GATAAA 3 -- int10--------
    rs1496299431,2
    --29501337(+) CTCTTA/GAGTAA 3 -- int10--------
    rs1469078351,2
    --29501401(+) ACAGGA/TTATTA 3 -- int1