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PFKM Gene

protein-coding   GIFtS: 73
GCID: GC12P048501

Phosphofructokinase, Muscle

(Previous names: phosphofructokinase, polypeptide X)
(Previous symbol: PFKX)
  See PFKM-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
Phosphofructokinase, Muscle1 2     6-Phosphofructokinase, Muscle Type2
PFKX1 2 3     PFK-12
Phosphofructokinase, Polypeptide X1 2     PFK12
Phosphofructo-1-Kinase Isozyme A2 3     PFKA2
Phosphofructokinase 12 3     phosphofructokinase-M2
PFK-A2 3     phosphohexokinase2
EC 2.7.1.113 8     Phosphofructokinase-M3
GSD72 5     Phosphohexokinase3
6-phosphofructo-1-kinase2     EC 2.7.18

External Ids:    HGNC: 88771   Entrez Gene: 52132   Ensembl: ENSG000001525567   OMIM: 6106815   UniProtKB: P082373   

Export aliases for PFKM gene to outside databases

Previous GC identifers: GC12P048525 GC12P048412 GC12P048229 GC12P046802 GC12P046788 GC12P046785 GC12P045531


(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 PFKM Gene:
Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as
subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of
fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This
gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease
type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.(provided by
RefSeq, Nov 2009)

GeneCards Summary for PFKM Gene:
PFKM (phosphofructokinase, muscle) is a protein-coding gene. Diseases associated with PFKM include glycogen storage disease vii, and phosphoglycerate kinase deficiency. GO annotations related to this gene include kinase binding and identical protein binding. An important paralog of this gene is PFKP.

UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to
generate fructose-1,6-bisphosphate (FBP) and ADP

Gene Wiki entry for PFKM Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFKM gene promoter:
         HOXA9B   HOXA9   AP-1   ATF-2   FOXD1   CUTL1   STAT5A   c-Jun   Meis-1a   Meis-1   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q13.11

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048501:  view genomic region     (about GC identifiers)

Start:
48,498,922 bp from pter      End:
48,540,187 bp from pter
Size:
41,266 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237 (See protein sequence)
Recommended Name: 6-phosphofructokinase, muscle type  
Size: 780 amino acids; 85183 Da
Cofactor: Magnesium
Subunit: Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3
Miscellaneous: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP
(platelet) isoenzymes
Secondary accessions: J3KNX3 Q16814 Q16815 Q6ZTT1
Alternative splicing: 3 isoforms:  P08237-1   P08237-2   P08237-3   (No experimental confirmation available. Ref.4 (BAC86498) sequence is in conflict in position: 2:H->L)

Explore the universe of human proteins at neXtProt for PFKM: NX_P08237

Explore proteomics data for PFKM at MOPED

Post-translational modifications: 

  • GlcNAcylation decreases enzyme activity (By similarity)1
  • Ubiquitination2 at Lys738
  • Glycosylation2 at Ser530
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PFKM (P08237) (see all 44)
     HAHLEHI  RVTVLGH  VLTSGGD  TLGIGKA 


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

    REFSEQ proteins (4 alternative transcripts): 
    NP_000280.1  NP_001160158.1  NP_001160159.1  NP_001160160.1  

    ENSEMBL proteins: 
     ENSP00000450369   ENSP00000449835   ENSP00000446945   ENSP00000446829   ENSP00000447997  
     ENSP00000345771   ENSP00000447992   ENSP00000450173   ENSP00000449622   ENSP00000448940  
     ENSP00000448018   ENSP00000352842   ENSP00000448318   ENSP00000447774   ENSP00000448315  
     ENSP00000448253   ENSP00000449269   ENSP00000448177   ENSP00000446805   ENSP00000449426  
     ENSP00000446519   ENSP00000446740   ENSP00000450091   ENSP00000378656   ENSP00000309438  
    Reactome Protein details: P08237

    PFKM Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PFKM
    OriGene Protein Over-expression Lysate for PFKM
    OriGene MassSpec for PFKM
    OriGene Custom Protein Services for PFKM
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    Novus Biologicals PFKM Proteins
    Novus Biologicals PFKM Lysates
    Sino Biological Recombinant Protein for PFKM
    Sino Biological Cell Lysate for PFKM
    ProSpec Recombinant Protein for PFKM
    Cloud-Clone Corp. Proteins for PFKM

     
    Search eBioscience for Proteins for PFKM 

    PFKM Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PFKM
    R&D Systems Antibodies for PFKM (Muscle Phosphofructokinase/PFKM)
    OriGene Antibodies for PFKM
    OriGene Custom Antibody Services for PFKM
    Novus Biologicals PFKM Antibodies
    Abcam antibodies for PFKM
    Cloud-Clone Corp. Antibodies for PFKM
    ThermoFisher Antibody for PFKM
    LSBio Antibodies in human, mouse, rat for PFKM

    PFKM Assay Products:

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR009161 6-phosphofructokinase_euk
     IPR022953 Phosphofructokinase
     IPR015912 Phosphofructokinase_CS
     IPR000023 Phosphofructokinase_dom

    Graphical View of Domain Structure for InterPro Entry P08237

    ProtoNet protein and cluster: P08237

    1 Blocks protein domain: IPB000023 Phosphofructokinase

    UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
    Similarity: Belongs to the phosphofructokinase family. Two domains subfamily


    Find genes that share domains with PFKM           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: K6PF_HUMAN, P08237
    Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to
    generate fructose-1,6-bisphosphate (FBP) and ADP
    Catalytic activity: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate
    Enzyme regulation: Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or
    citrate

         Genatlas biochemistry entry for PFKM:
    6-phosphofructo-1-kinase,expressed in muscle,previously assigned to chr 1,fructose metabolism,energy pathway

         Enzyme Numbers (IUBMB): EC 2.7.1.111 2 EC 2.7.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038726-phosphofructokinase activity ISS--
    GO:0005515protein binding IPI12649290
    GO:0005524ATP binding IDA8780720
    GO:0008022protein C-terminus binding IPI12649290
    GO:0008443phosphofructokinase activity ----
         
    Find genes that share ontologies with PFKM           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for PFKM:
     Actin fiber cells  Decreased 12E8 tau but not tot  Increased apoptosis  Upregulation of Wnt/beta-caten 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pfkm):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle 

    Find genes that share phenotypes with PFKM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pfkmtm1Fbos for PFKM

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target PFKM:
    hsa-mir-92a-3p (MIRT049227), hsa-mir-320a (MIRT044562), hsa-let-7b-5p (MIRT052269)

    Block miRNA regulation of human, mouse, rat PFKM using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFKM (see all 24):
    hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFKM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PFKM
    Predesigned siRNA for gene silencing in human, mouse, rat PFKM

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

    Clone
    Products:
         
    OriGene clones in human, mouse for PFKM (see all 22)
    OriGene ORF clones in mouse, rat for PFKM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PFKM (NM_001166686)
    Sino Biological Human cDNA Clone for PFKM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKM
    Addgene plasmids for PFKM 

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12353) for PFKM 


    (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
    cytosol5
    plasma membrane5
    chloroplast2
    cytoskeleton2
    extracellular2
    mitochondrion2
    nucleus2
    peroxisome2
    endoplasmic reticulum1
    lysosome1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:00059456-phosphofructokinase complex IDA6444532
    GO:0016324apical plasma membrane IDA12649290

    Find genes that share ontologies with PFKM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PFKM About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis0.40
    Glycolysis and Gluconeogenesis0.60
    glycolysis0.00
    Glycolysis / Gluconeogenesis0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    4Akt Signaling
    Akt Signaling0.60
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45


    Find genes that share SuperPaths with PFKM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFKM
        AMPK Enzyme Complex Pathway
    Akt Signaling

    1 GeneGo (Thomson Reuters) Pathway for PFKM
        Glycolysis and gluconeogenesis (short map)

    5 BioSystems Pathways for PFKM
        Insulin Signaling
    Glycolysis and Gluconeogenesis
    glycolysis
    Validated targets of C-MYC transcriptional activation
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    1 Reactome Pathway for PFKM
        Glycolysis


    Selected Kegg Pathways  (Kegg details for PFKM) (see all 7):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Galactose metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from
    D-glucose: step 3/4

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

        GeneGlobe Interaction Network for PFKM

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

    Selected Interacting proteins for PFKM (P082371, 2, 3 ENSP000003528424) via UniProtKB, MINT, STRING, and/or I2D (see all 863)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583, ENSP000002722984I2D: score=1 STRING: ENSP00000272298
    CALM3P621583, ENSP000002912954I2D: score=1 STRING: ENSP00000291295
    PFKLP178581, 3, ENSP000002698484EBI-514788,EBI-487243 I2D: score=4 STRING: ENSP00000269848
    SUMO1P631652, 3, ENSP000003760764MINT-7947479 I2D: score=1 STRING: ENSP00000376076
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006002fructose 6-phosphate metabolic process IMP6444532
    GO:0006006glucose metabolic process TAS--
    GO:0006096glycolytic process TAS--
    GO:0032024positive regulation of insulin secretion IEA--

    Find genes that share ontologies with PFKM           About GenesLikeMe



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

    Browse Tocris compounds for PFKM (K6PF)

    Selected HMDB Compounds for PFKM (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    CDPCDP (see all 3)63-38-7--
    Cytidine triphosphatecytidine 5'-(tetrahydrogen triphosphate) (see all 15)65-47-4--
    D-Tagatose 1,6-bisphosphate1,6-di-O-phosphono-D-tagatofuranose ----
    D-Tagatose 6-phosphate6-O-phosphono-D-tagatofuranose (see all 2)----
    Fructose 1,6-bisphosphateD-Fructose 1,6-biphosphate (see all 16)488-69-7--
    Fructose 6-phosphateD-Fructose 6-phosphate (see all 13)643-13-0--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--

    Selected Novoseek inferred chemical compound relationships for PFKM gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 59.1 6 14718702 (1), 10438462 (1), 7603532 (1), 1826293 (1) (see all 6)
    phosphocreatine 36.4 1 9829278 (1)
    carnitine 22.6 2 1826293 (1), 12149506 (1)
    atp 20.9 1 10438462 (1)
    lactate 20.2 3 8482676 (1), 12149506 (1)
    pyruvate 19.7 1 10438462 (1)
    glucose 19.4 10 14718702 (1), 7603532 (1), 12217956 (1), 8764833 (1) (see all 9)
    creatinine 10.2 1 10438462 (1)
    alanine 4.69 1 19218242 (1)
    lipid 0 1 7603532 (1)



    Find genes that share compounds with PFKM           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PFKM gene (4 alternative transcripts): 
    NM_000289.5  NM_001166686.1  NM_001166687.1  NM_001166688.1  

    Unigene Cluster for PFKM:

    Phosphofructokinase, muscle
    Hs.75160  [show with all ESTs]
    Unigene Representative Sequence: AK126020
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000550345 ENST00000549003 ENST00000550924 ENST00000549941 ENST00000550257
    ENST00000340802(uc001rrb.2) ENST00000547581(uc001rra.2) ENST00000546755
    ENST00000549366 ENST00000552792 ENST00000548288 ENST00000359794 ENST00000547066
    ENST00000546964(uc001rrd.3) ENST00000548720 ENST00000552989 ENST00000551548
    ENST00000551485
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PFKM (see all 24):
    hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p
    SwitchGear 3'UTR luciferase reporter plasmidPFKM 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PFKM
    Predesigned siRNA for gene silencing in human, mouse, rat PFKM
    Clone
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    OriGene clones in human, mouse for PFKM (see all 22)
    OriGene ORF clones in mouse, rat for PFKM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): PFKM (NM_001166686)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKM
    Addgene plasmids for PFKM 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PFKM
    OriGene qSTAR qPCR primer pairs in human, mouse for PFKM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PFKM
      QuantiTect SYBR Green Assays in human, mouse, rat PFKM
      QuantiFast Probe-based Assays in human, mouse, rat PFKM
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12353) for PFKM 

    Additional mRNA sequence: 

    AK126020.1 AK126229.1 AK303681.1 AK308185.1 AK312284.1 BC000534.2 BC007798.2 BC012799.2 
    BC013298.2 BC021203.2 CR541698.1 D21861.1 J05533.1 M26066.1 U24183.1 Y00698.1 

    Selected DOTS entries (see all 35):

    DT.95200400  DT.100821887  DT.453195  DT.95227048  DT.100821891  DT.95227047  DT.100821889  DT.451936 
    DT.102830750  DT.101968062  DT.100821888  DT.121130909  DT.95239472  DT.100821896  DT.101968583  DT.121130726 
    DT.121130748  DT.91766939  DT.91766943  DT.95227041  DT.95227049  DT.100774897  DT.100821892  DT.102830751 

    Selected AceView cDNA sequences (see all 459):

    BM707870 BQ073492 BQ214726 AI370819 AI193636 BE887098 BE794437 BQ073813 
    BM710783 AV707835 BU732958 BQ425020 Y00698 BM771640 AA152157 AW411025 
    BC021203 AL534236 BQ640633 AU123936 AK126020 AL045056 BQ639191 BU178090 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PFKM (see all 17)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
    SP1:                                                              -     -     -     -     -     -                                               -     -         
    SP2:                                                              -     -     -     -     -     -                                               -     -         
    SP3:                                                                                                                                            -     -         
    SP4:        -     -     -     -     -     -     -     -     -     -     -     -     -     -     -                                               -     -         
    SP5:                                                              -     -     -     -     -     -                                         -     -     -     -   

    ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^
    SP1:                                                                          -                       -                                                         
    SP2:                                                                          -                       -                                                         
    SP3:                                                                    -     -                       -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 31 ^ 32
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for PFKM

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


    PFKM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
     
     Testis (Reproductive System)
     
     Adrenal Gland (Endocrine System)
     
     Skeletal Muscle (Muscoskeletal System)
    PFKM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFKM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75160
        Custom PCR Arrays for PFKM
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PFKM
    OriGene qSTAR qPCR primer pairs in human, mouse for PFKM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PFKM
    QuantiTect SYBR Green Assays in human, mouse, rat PFKM
    QuantiFast Probe-based Assays in human, mouse, rat PFKM
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PFKM gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkm1 , 5 phosphofructokinase, muscle1, 5 90.17(n)1
    97.82(a)1
      15 (54.09 cM)5
    186421  NM_021514.41  NP_067489.31 
     980925895 
    chicken
    (Gallus gallus)
    Aves PFKM1 phosphofructokinase, muscle 75.89(n)
    83.97(a)
      374064  NM_204223.1  NP_989554.2 
    lizard
    (Anolis carolinensis)
    Reptilia PFKM6
    phosphofructokinase, muscle
    85(a)
    1 ↔ 1
    GL343536.1(124076-178939)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045100.12   -- 75.32(n)    BC045100.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pfkma1 phosphofructokinase, muscle a 71.74(n)
    79.79(a)
      447836  NM_001004575.1  NP_001004575.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfk1 , 3 glycolysis 6-phosphofructokinase3
    Phosphofructokinase1
    54(a)3
    60.91(n)1
    60.86(a)1
      360601  NM_165747.41  NP_724891.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H10A.1a3
    Y71H10A.11
    phosphofructokinase3
    Y71H10A.11
    56(a)
    (best of 3)3
    57.07(n)1
    56.76(a)1
      X(2976190-2980515)3
    1805831  NM_171643.31  NP_741738.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PFK26
    PFK16
    Beta subunit of heterooctameric phosphofructokinas...
    Alpha subunit of heterooctameric phosphofructokina...
    34(a)
    34(a)
    many ↔ many
    many ↔ many
    XIII(671887-674766) YMR205C
    VII(970771-973734) YGR240C


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

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

    TryGeneCards Plus
    Paralogs for PFKM gene
    PFKP2  PFKL2  
    13 SIMAP similar genes for PFKM using alignment to 23 protein entries:     K6PF_HUMAN (see all proteins):
    DKFZp779O048    PKP2    PFKP    FLT3LG    PFK-P    DKFZp686L2097
    GART    DKFZp686G1648    PS1TP6    PFKL    DKFZp666K083    PHACTR1
    PPARD

    Find genes that share paralogs with PFKM           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PFKM (see all 932)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22285001,2,,4
    C,F,O,HGlycogen storage disease 7 (GSD7)4 --48359745(+) ACTCCG/AAGCTG 8 /Q /R mis1 ese338Minor allele frequency- A:0.18MN EA NA NS CSA WA EU 11438
    rs412919711,2,,4
    C,FGlycogen storage disease 7 (GSD7)4 --48371939(+) TTACCG/ATAATG 8 /H /R mis15Minor allele frequency- A:0.01NA EU 5997
    VAR_0060674
    Glycogen storage disease 7 (GSD7)4--see VAR_0060672 D A mis40--------
    VAR_0060634
    Glycogen storage disease 7 (GSD7)4--see VAR_0060632 R L mis40--------
    VAR_0060664
    Glycogen storage disease 7 (GSD7)4--see VAR_0060662 G D mis40--------
    VAR_0060684
    Glycogen storage disease 7 (GSD7)4--see VAR_0060682 W C mis40--------
    VAR_0060644
    Glycogen storage disease 7 (GSD7)4--see VAR_0060642 R P mis40--------
    rs1219181931,2
    Cpathogenic148357209(+) GGTTCA/C/G/
            
    AGTTG
    12 P R L mis10--------
    rs1808924061,2
    --45529160(+) ACCCCA/GCATTT 1 -- us2k10--------
    rs1455948571,2
    --48330661(+) TGTCTA/GGGGCT 1 -- us2k10--------
    rs558200561,2
    C,F--48330720(+) ACACCA/TGTAAT 1 -- us2k14Minor allele frequency- T:0.43NA WA CSA 7
    rs1454193201,2
    --48330725(+) TGTAAC/TCCCAG 1 -- us2k10--------
    rs1380118321,2
    C--48330755(+) GGGCAA/GATCAC 1 -- us2k10--------
    rs1891392631,2
    --48330813(+) CTCTAC/GGAAAA 1 -- us2k10--------
    rs1813114911,2
    C--48330901(+) GAACCC/TGGGAG 1 -- us2k10--------
    rs717479471,2
    C--48331001(+) TATAT-/AGAGAGA 1 -- us2k10--------
    rs582809061,2
    C--48331002(+) ATATAT/GAGAGA 1 -- us2k12Minor allele frequency- G:0.25WA CSA 4
    rs1428849651,2
    C--48331235(+) TACAAC/TAGTTT 1 -- us2k10--------
    rs111684081,2
    C,F,A,H--48331353(+) TAAGTA/GTTCAA 1 -- us2k120Minor allele frequency- G:0.13NA NS EA WA CSA 935
    rs108757431,2
    C,F,A,H--48331439(+) CTGTCT/CAGTAG 1 -- us2k119Minor allele frequency- C:0.16NA NS EA WA CSA 936
    rs1905867051,2
    --48331454(+) AGCCAG/TATCCA 1 -- us2k10--------
    rs108757441,2
    C,F,A,H--48331466(+) AAACAG/CGTACC 1 -- us2k113Minor allele frequency- C:0.38NA CSA WA EA 513
    rs1827732441,2
    --48331562(+) AACAAC/TTGCAT 1 -- us2k10--------
    rs1450537931,2
    --48331617(+) TCCCTC/GTAGAC 1 -- us2k10--------
    rs1483099261,2
    C--48331775(+) ATGCTC/TATAGA 1 -- us2k10--------
    rs1413938011,2
    --48331825(+) GGGTAA/GTCTGT 1 -- us2k10--------
    rs1872295831,2
    --48332074(+) CAAGTG/TACTGC 1 -- us2k10--------
    rs1509057861,2
    --48332109(+) CAGGCA/GCCGAT 1 -- us2k10--------
    rs1393958631,2
    C--48332127(+) AATCAC/TCAAGC 1 -- us2k10--------
    rs24089551,2
    C,F,A,H--48332157(+) GCATAT/GATCCA 1 -- us2k120Minor allele frequency- G:0.30NS EA NA WA CSA 2057
    rs1440086911,2
    C--48332223(+) CGATGA/TGCCAG 1 -- us2k10--------
    rs1156468281,2
    C,F--48332265(+) CATAAC/ACTGAG 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1921071721,2
    C--48332271(+) CTGAGC/GAGGAG 1 -- us2k10--------
    rs1473081001,2
    C--48332346(+) TAGGAC/GAGTTG 1 -- us2k10--------
    rs750989841,2
    C,F--48332427(+) AAGCCG/AGTACC 1 -- us2k11Minor allele frequency- A:0.07EA 120
    rs1838709691,2
    --48332619(+) CCTCAC/GGTAGC 1 -- us2k10--------
    rs1512378311,2
    --48332900(+) GGGAA-/CCCGCC 1 -- ut510--------
    rs1408958561,2
    --48332924(+) GCCTTC/TACAGC 1 -- ut510--------
    rs47606191,2
    C,F,H--48332957(+) TGAAGA/TGGAGG 1 -- int1 trp39Minor allele frequency- T:0.15NS EA NA 632
    rs1880201361,2
    --48333008(+) TGGGGA/CGCCTG 1 -- int10--------
    rs1922461411,2
    --48333110(+) TCGTAC/TTCGGA 1 -- int10--------
    rs1827675351,2
    --48333194(+) CGCCCA/GGCGAG 1 -- int10--------
    rs7263541,2
    C,F,O,A,H--48333360(+) GTAGAG/AGTTAT 1 -- int128Minor allele frequency- A:0.35MN EA NA NS CSA WA 3164
    rs1870550411,2
    --48333377(+) TACTTC/TAGTCT 1 -- int10--------
    rs1170719051,2
    C,F--48333394(+) GTTCAG/AAGAAG 1 -- int11Minor allele frequency- A:0.01NA 120
    rs733012011,2
    C,F--48333430(+) GTGCAC/TGGCCC 1 -- int13Minor allele frequency- T:0.06WA 122
    rs2009505391,2
    C--48333515(+) AGCAAA/GCAAAC 1 -- int10--------
    rs740869811,2
    C--48333535(+) AACAAG/ACAAGC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs2015496161,2
    C--48333539(+) AACAAA/GCAACT 1 -- int10--------
    rs111684091,2
    H--48333560(+) TTAGGC/TTAGAC 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1996624101,2
    C--48333733(+) ACACAC/TTGATT 1 -- int10--------
    rs1922179701,2
    --48333749(+) GGAATC/GTGCCA 1 -- int10--------
    rs1451789821,2
    --48333784(+) AAGAAA/GTATGT 1 -- int10--------
    rs787829221,2
    C,F--48333894(+) ACACCC/GAGATC 1 -- int11Minor allele frequency- G:0.15NA 120
    rs1843768971,2
    --48334078(+) AAGTCC/GTAAGG 1 -- int10--------
    rs116093991,2
    C,F,A,H--48334191(+) CATGCA/TTAAAG 2 H L mis1 ese313Minor allele frequency- T:0.27NS EA NA CSA WA EU 1355
    rs1903929341,2
    C--48334199(+) AAGACA/G/TAGTTT 3 K E * mis1 stg10--------
    rs1932983171,2
    C--48334239(+) GTCTCG/TCCAGT 2 R L mis10--------
    rs1449411511,2
    C--48334310(+) AATGGC/GTTCTC 1 -- int10--------
    rs1854978691,2
    --48334351(+) CTTTCC/TAGTGT 1 -- int10--------
    rs1895727571,2
    --48334408(+) CTTTGA/GTAAAA 1 -- int10--------
    rs104920801,2
    C,F,A,H--48334441(-) TTACCT/CGGAAA 1 -- int130Minor allele frequency- C:0.33NS NA EA CSA WA 2773
    rs1807404791,2
    --48334458(+) GACCTA/GGTTTG 1 -- int10--------
    rs128291211,2
    H--48335025(+) GGTCAA/CCAGTG 1 -- int14Minor allele frequency- C:0.00NS EA 420
    rs1855466751,2
    --48335028(+) CAACAG/TTGAGA 1 -- int10--------
    rs1883975371,2
    --48335045(+) CAAAGG/TAATAT 1 -- int10--------
    rs1116298331,2
    C--48335062(+) GTGAAA/CGTTGT 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs1815671001,2
    --48335090(+) TCAGCA/GTAGAC 1 -- int10--------
    rs7254541,2
    C,F,A,H--48335130(-) CAGACT/CTTCCC 1 -- int1 trp324Minor allele frequency- C:0.17NA EA NS WA CSA 2593
    rs1438769121,2
    C--48335150(+) GAAAC-/AGAGAGA 1 -- int10--------
    rs731020801,2
    C,F--48335173(+) AGAGAG/AAAAGA 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1431828911,2
    C--48335182(+) GAGAA-/AGAGGGA 1 -- int10--------
    rs1486135071,2
    --48335349(+) AGCATC/GCTTGA 1 -- int10--------
    rs176149321,2
    C,F,H--48335500(+) AGGCAA/CTTTAT 1 -- int110Minor allele frequency- C:0.02NA NS EA 686
    rs7575561,2
    C,F,A,H--48335523(-) TAGATG/ATGTTT 1 -- int114Minor allele frequency- A:0.32NA EA NS WA 1202
    rs171226661,2
    C,F,H--48335604(+) TATTTG/ACCCAA 1 -- int126Minor allele frequency- A:0.17NA NS EA WA 2900
    rs799765891,2
    F--48335612(+) CAATAA/GTATAC 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1871661521,2
    C--48335640(+) AAAACA/TTATGT 1 -- int10--------
    rs1915352071,2
    --48335656(+) GCATAA/TCCTTG 1 -- int10--------
    rs111684101,2
    H--48335795(+) AACTCC/GTAGCA 1 -- int14Minor allele frequency- G:0.00NS EA 420
    rs1420347601,2
    --48335859(+) AATCAC/TTGGGC 1 -- int10--------
    rs1841786661,2
    --48335934(+) AAGGAC/TGGGAG 1 -- int10--------
    rs1117635231,2
    C,F--48336026(+) AAATGC/TAGGGT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs120994621,2
    C,A--48336134(+) TTCCTC/TCCTCC 1 -- int1 trp38Minor allele frequency- T:0.21WA NA CSA EA 251
    rs1500320401,2
    C--48336159(+) TCTTT-/CTTC  
            
    CTTCC
    1 -- int10--------
    rs788048671,2
    --48336221(+) TTGTGG/TTCTAC 1 -- int10--------
    rs1899231001,2
    --48336222(+) TGTGGC/TCTACA 1 -- int10--------
    rs8792421,2
    C,F,A,H--48336331(+) ATTTCT/CTATTT 1 -- int19Minor allele frequency- C:0.35NS EA NA CSA WA 782
    rs1821455021,2
    --48336633(+) GCTTCC/GTTCCT 1 -- int10--------
    rs1404443831,2
    --48336708(+) AGAATA/GTGTTG 1 -- int10--------
    rs1455395131,2
    --48336738(+) ACTGTA/GCTTGG 1 -- int10--------
    rs1872030021,2
    --48336877(+) ATGAAA/GGAAAA 1 -- int10--------
    rs726448451,2
    C,F--48336911(+) AAACAG/AGGGGT 1 -- int15Minor allele frequency- A:0.33NA CSA WA EA 362
    rs1900566971,2
    --48337034(+) GAAACA/GGGAAA 1 -- int10--------
    rs1465006901,2
    C--48337048(+) CAGAAC/TGGGCC 1 -- int10--------
    rs1175282971,2
    C,F--48337081(+) AATAGC/TGGGAG 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1409998501,2
    --48337121(+) GATTGC/TGCAGT 1 -- int10--------
    rs1829814691,2
    --48337134(+) CTTCTA/GGGTCT 1 -- int10--------
    rs1387585121,2
    C--48337162(+) TCTGGC/GAAATC 1 -- int10--------
    rs1493564021,2
    C--48337340(+) AATGGC/TGAGGA 1 -- int10--------
    rs8779171,2
    H--48337439(-) TTCTTG/AGGCTG 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1888015171,2
    --48337444(+) CAAGAA/CATTCA 1 -- int10--------
    rs1436372311,2
    C--48337465(+) CTCCAC/GGGTGT 1 -- int10--------
    rs1928614531,2
    --48337481(+) TCCTTA/GTTCTA 1 -- int10--------
    rs1857769001,2
    --48337510(+) GATTCG/TGTGCT 1 -- int10--------
    rs1480825811,2
    C--48337516(+) GTGCTC/GTAGTC 1 -- int10--------
    rs1886408991,2
    --48337552(+) TTCTTG/TTCTCT 1 -- int10--------
    rs1481867371,2
    C--48337643(+) CAGGC-/TGTGTGT 1 -- int10--------
    rs779428111,2
    F--48337656(+) TGTGTG/AGCCCA 1 -- int11Minor allele frequency- A:0.15NA 120
    rs733028061,2
    C,F--48337715(+) GCATAG/ACAAGG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1834733551,2
    --48337746(+) ACACTG/TTACCC 1 -- int10--------
    rs1881518191,2
    --48337931(+) AAAGAC/GTTCGA 1 -- int10--------
    rs1128964761,2
    C,F--48337955(+) GCCTAG/AGTAAC 1 -- int14Minor allele frequency- A:0.04NA CSA WA 124
    rs1813313941,2
    --48337975(+) TCAAGA/TCTACT 1 -- int10--------
    rs1846791861,2
    --48337997(+) GAAAAC/TGTGGG 1 -- int10--------
    rs111684111,2
    C,F,H--48338033(+) ACCCAT/CTTGCT 1 -- int118Minor allele frequency- C:0.06NS EA NA 2164
    rs752973481,2
    C,F--48338095(+) CACTTC/TATCTA 1 -- int14Minor allele frequency- T:0.06NA CSA WA 124
    rs1903409391,2
    --48338131(+) TGCCCC/TCTGCT 1 -- int10--------
    rs1127921501,2
    C,F--48338227(+) CTTTGC/TGTAGC 1 -- int14Minor allele frequency- T:0.05NA CSA WA 124
    rs1441250191,2
    --48338228(+) TTTGCA/GTAGCG 1 -- int10--------
    rs47606811,2
    C,F,A,H--48338260(+) AACAGC/TATGGT 1 -- int121Minor allele frequency- T:0.18NS EA NA WA CSA 2339
    rs583317341,2
    C--48338422(+) AGATAG/CTATAG 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1815321101,2
    --48338468(+) CTGGTA/GGAACT 1 -- int10--------
    rs1392844691,2
    --48338552(+) GGGTGC/GATCAA 1 -- int10--------
    rs1874394911,2
    --48338611(+) GGCCGA/GATGGA 1 -- int10--------
    rs1431671941,2
    --48338917(+) CTGCAC/TGGCCC 1 -- int10--------
    rs1808916391,2
    --48339143(+) GGAAGC/GAAAGG 1 -- int10--------
    rs1505363451,2
    --48339300(+) GTGAAA/GCCTTG 1 -- int10--------
    rs1854923771,2
    C--48339440(+) ATAATA/GGGTTA 1 -- int10--------
    rs1898053501,2
    --48339505(+) CACGGA/GGTGGA 1 -- int10--------
    rs1394994481,2
    --48339566(+) GGCTTA/GTCTGG 1 -- int10--------
    rs1833857961,2
    --48339672(+) TTAAAA/GTGTGC 1 -- int10--------
    rs1496893571,2
    --48339681(+) GCTGCA/GGGATG 1 -- int10--------
    rs1163280731,2
    F--48339826(+) TGAAGG/AAGACT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1878724521,2
    --48339891(+) GGGAAA/GCAGAT 1 -- int10--------
    rs116137811,2
    C,A,H--48339935(+) actggG/Acaggt 1 -- int13Minor allele frequency- A:0.17NA 6
    rs1919403701,2
    --48340060(+) AAGGGA/GAGCTG 1 -- int10--------
    rs1441717671,2
    --48340132(+) CTTACA/CCTCCA 1 -- int10--------
    rs1465049561,2
    C--48340185(+) TCCGAA/GGCGAC 1 -- int10--------
    rs1832892861,2
    --48340258(+) CTTGGC/GCCAGA 1 -- int10--------
    rs576552331,2
    C,F--48340416(+) AGATCC/TTGGGG 1 -- int12Minor allele frequency- T:0.50NA CSA 4
    rs1512785171,2
    --48340421(+) CTGGGA/GGAGGC 1 -- int10--------
    rs1136097441,2
    C--48340541(+) AAATAC/TGTTGC 1 -- int10--------
    rs21585151,2
    C,F,A,H--48340698(-) CAGAGG/AGGCCA 1 -- int19Minor allele frequency- A:0.48NS NA WA CSA 363
    rs1469065301,2
    --48340829(+) TTAAGC/TCCTTC 1 -- int10--------
    rs73023541,2
    C,F,A,H--48340860(+) AGTCTC/TGCCTA 1 -- int110Minor allele frequency- T:0.22NS EA NA WA 784
    rs1877774551,2
    --48340882(+) GGAATC/TGGCCG 1 -- int10--------
    rs1926997951,2
    --48340907(+) GGATCA/GCCTCA 1 -- int10--------
    rs21076381,2
    C,F,A,H--48340949(-) CTTCAT/CGAACC 1 -- int115Minor allele frequency- C:0.25NS EA NA WA 926
    rs1392952381,2
    C--48340965(+) AGTTAC/TCAGCA 1 -- int10--------
    rs1846767661,2
    --48341098(+) ATTTAG/TTGGGG 1 -- int10--------
    rs1867694501,2
    --48341102(+) AGTGGA/GGTCTG 1 -- int10--------
    rs786491791,2
    C--48341226(+) GCAGGT/AGGGGG 1 -- int12Minor allele frequency- A:0.17NA 122
    rs1911852391,2
    --48341236(+) GAGAGC/TTAGTC 1 -- int10--------
    rs1178011361,2
    C,F--48341248(+) TAGGAC/TGAAAC 1 -- int11Minor allele frequency- T:0.08EA 120
    rs3698488681,2
    C--48341278(+) GGGGA-/GGGGAG 1 -- int10--------
    rs726448461,2
    C,F--48341313(+) GGAGCA/GAAGGC 1 -- int13Minor allele frequency- G:0.32WA NA EA 358
    rs2017570991,2
    C--48341479(+) AAAGA-/AGGAGGAT 1 -- int10--------
    rs1849616501,2
    --48341495(+) GGACGA/CGTTGC 1 -- int10--------
    rs1894222281,2
    --48341513(+) ACACAA/GACTAG 1 -- int10--------
    rs111684121,2
    C,F--48341516(+) CAGACT/GAGGGA 1 -- int14Minor allele frequency- G:0.25NA WA 8
    rs1481352291,2
    C--48341542(+) AAAATA/GCCTGG 1 -- int10--------
    rs1507432311,2
    --48341653(+) CCATTA/GTCGAG 1 -- int10--------
    rs613435681,2
    C,F--48341676(+) CAAAGT/CGGTGT 1 -- int17Minor allele frequency- C:0.46NA WA CSA EA 366
    rs1820082861,2
    --48341756(+) CACAGA/GCTAAG 1 -- int10--------
    rs1849839871,2
    --48341821(+) TTAAAA/GAGAAG 1 -- int10--------
    rs1890555711,2
    --48341930(+) AACACA/GGGTGA 1 -- int10--------
    rs1391050801,2
    --48341951(+) CAGGCA/GTCCCT 1 -- int10--------
    rs1820488061,2
    --48342011(+) CCCACA/GATAAT 1 -- int10--------
    rs1439575581,2
    --48342081(+) TGTGAA/GGAGAT 1 -- int10--------
    rs1460368141,2
    C--48342183(+) GGATTA/GTCATT 1 -- int10--------
    rs1863717911,2
    --48342217(+) GCGGTG/TGAGTT 1 -- int10--------
    rs1899380611,2
    --48342245(+) GGAAGC/GGGGTG 1 -- int10--------
    rs1399542151,2
    --48342273(+) TCTCAA/GGGATG 1 -- int10--------
    rs1497411781,2
    --48342425(+) AGGCCA/GTCTGG 1 -- int10--------
    rs1455796491,2
    --48342437(+) TGTATA/GCGTGC 1 -- int10--------
    rs1807413481,2
    --48342525(+) ATCTCC/TTGAGG 1 -- int10--------
    rs774648651,2
    C,F--48342543(+) CACAGG/CCCATT 1 -- int11Minor allele frequency- C:0.50WA 2
    rs1428915881,2
    --48342662(+) GACTTC/TGGGCT 1 -- int10--------
    rs754535371,2
    F--48342720(+) GTATAC/TAGATT 1 -- int11Minor allele frequency- T:0.02NA 120
    rs601060071,2
    C,F--48342794(+) ATGATG/AACTCT 1 -- int111Minor allele frequency- A:0.31WA NA CSA EA 373
    rs1865965051,2
    --48342797(+) ATGACG/TCTATG 1 -- int10--------
    rs122289241,2
    C,F,H--48342800(+) actctA/Gtgttt 1 -- int19Minor allele frequency- G:0.17NS NA WA EA 730
    rs1476823841,2
    C--48342894(+) CACATC/TCGCTG 1 -- int10--------
    rs2001144451,2
    --48342937(+) CCCTC-/CCTT  
            
    CCTTC
    1 -- int10--------
    rs763412021,2
    C--48342950(+) TCCTTC/TCTTCC 1 -- int13Minor allele frequency- T:0.23NA EA 242
    rs1910053711,2
    --48342954(+) TCCTTC/TCTCTC 1 -- int10--------
    rs1134119121,2
    F--48343068(+) TTTCTC/GTCTCT 1 -- int12Minor allele frequency- G:0.03CSA WA 120
    rs1832753371,2
    --48343209(+) TGGCTA/GTTGAT 1 -- int10--------
    rs1860340691,2
    --48343258(+) TCATTC/TTTAGA 1 -- int10--------
    rs560492091,2
    C--48343370(+) CACTGC/TAAGCT 1 -- int10--------
    rs1463082491,2
    --48343469(+) TGTATC/TTTTGT 1 -- int10--------
    rs1393631311,2
    --48343519(+) ATTCCA/GGAGCT 1 -- int10--------
    rs1904450711,2
    --48343534(+) CAATCC/TACCTG 1 -- int10--------
    rs1406331311,2
    --48343541(+) CCTGCC/TTTGGC 1 -- int10--------
    rs1833799231,2
    --48343824(+) GTGCTC/GCACCT 1 -- int10--------
    rs1876320701,2
    --48343871(+) AACTGA/GTATTT 1 -- int10--------
    rs1504829111,2
    --48343887(+) GTCTCC/TGTAGT 1 -- int10--------
    rs1382953951,2
    C--48343937(+) GTATGC/TAGCCT 1 -- int10--------
    rs1137855141,2
    C--48343987(+) ATAATTTC/-TTTTT 1 -- cds11Minor allele frequency- -:0.50CSA 2
    rs1401190161,2
    C--48343988(+) TAATT-/TTCTTTTA 1 -- cds10--------
    rs600507261,2
    C--48343989(+) AATTT-/C/CTT 
            
    TTTAT
    2 -- int1 cds10--------
    rs2015892371,2
    C--48343990(+) AATTTC/TTNNNN 1 -- int10--------
    rs111684131,2
    C,F,A,H--48344025(+) ctgtaT/Ccacag 1 -- int113Minor allele frequency- C:0.24NS EA NA WA CSA 782
    rs1927419241,2
    --48344088(+) TTATGA/CATAAA 2 -- int1 us2k10--------
    rs789623891,2
    F--48344122(+) GGTTTT/CTTGTG 2 -- int1 us2k11Minor allele frequency- C:0.03WA 118
    rs1496045931,2
    --48344162(+) ATACTC/TAGGAG 2 -- int1 us2k10--------
    rs1149150331,2
    C,F--48344312(+) TTGGAT/GTTTTG 2 -- int1 us2k11Minor allele frequency- G:0.01WA 118
    rs1823736111,2
    --48344482(+) TTTTCC/TTTTTA 2 -- int1 us2k10--------
    rs1882758701,2
    --48344565(+) GCTCCC/TCCATG 2 -- int1 us2k10--------
    rs1435004451,2
    --48344579(+) CAGCCC/GTCAGG 2 -- int1 us2k10--------
    rs1154705311,2
    F--48344615(+) TGGTCG/AGGCCA 2 -- int1 us2k11Minor allele frequency- A:0.03WA 118
    rs1927972391,2
    --48344709(+) GGATAA/GCTGGA 2 -- int1 us2k10--------
    rs1841372991,2
    --48344724(+) GGGAGC/GGGGGA 2 -- int1 us2k10--------
    rs1379222171,2
    --48344732(+) GGAGCA/GGGGCT 2 -- int1 us2k10--------
    rs1131459401,2
    C,F--48344770(+) TTCTGA/CTTGGA 2 -- int1 us2k11Minor allele frequency- C:0.02NA 120
    rs1423683981,2
    --48344864(+) AGCTTC/TCAGGT 2 -- int1 us2k10--------
    rs1118897551,2
    C,F--48344921(+) AGAGTG/CTGTTC 2 -- int1 us2k12Minor allele frequency- C:0.50NA CSA 4
    rs1398010751,2
    --48344990(+) ATCAAC/TGTCTG 2 -- int1 us2k10--------
    rs733028161,2
    C,F--48345035(+) GACTGA/GGAGGA 2 -- int1 us2k13Minor allele frequency- G:0.05WA 122
    rs1413865621,2
    --48345044(+) GAGGGG/TTCTAT 2 -- int1 us2k10--------
    rs47606821,2
    C,H--48345315(+) AGATAA/CAAGTA 2 -- int1 us2k111Minor allele frequency- C:0.12NA WA CSA 318
    rs111684141,2
    C,F,H--48345361(+) AGACCC/TGACTG 2 -- int1 us2k120Minor allele frequency- T:0.19NS EA NA MN WA 3594
    rs111684151,2
    C,F--48345551(+) CACAGA/CCACGC 2 -- int1 us2k111Minor allele frequency- C:0.30MN EA NA WA 1622
    rs1892020851,2
    --48345563(+) CTTCCC/TTCTTG 2 -- int1 us2k10--------
    rs283844171,2
    F--48345592(+) GCTAGC/GTTTTC 2 -- int1 us2k12Minor allele frequency- G:0.04MN EA 1252
    rs773225891,2
    C,F--48345674(+) ATTCAA/TTGTTC 2 -- int1 us2k11Minor allele frequency- T:0.15NA 120
    rs746773811,2
    C--48345702(+) TATTTA/TTTTTT 2 -- int1 us2k10--------
    rs789211401,2
    C--48345709(+) TTTTTT/AAAACC 2 -- int1 us2k11Minor allele frequency- A:0.50CSA 2
    rs1503487621,2
    C--48345817(+) CTGAA-/GATGTT 2 -- int1 us2k10--------
    rs1507952301,2
    --48345843(+) TCAGGC/TAGTCT 2 -- int1 us2k10--------
    rs785128141,2
    F--48346050(+) AGGAGG/CCGGAG 2 -- int1 ut511Minor allele frequency- C:0.01WA 118
    rs412919591,2
    C,F--48346056(+) CGGAGC/ACTTCT 2 -- int1 ut511Minor allele frequency- A:0.15NA 120
    rs1489194481,2
    C--48346081(+) GTGGA-/GGGTTG 2 -- int1 ut510--------
    rs123062901,2
    C,F,A--48346115(+) CCCTCT/GTTGCC 2 -- int1 ut51 trp310Minor allele frequency- G:0.31WA NA CSA EA 371
    rs1391515561,2
    C--48346193(+) AGCAGC/TGGCGG 2 -- int1 ut510--------
    rs1499181071,2
    --48346268(+) TGAGGG/TGGGAA 2 -- int10--------
    rs583732421,2
    C,F--48346304(+) GGAGAA/GCTGAA 2 -- int12Minor allele frequency- G:0.11WA 120
    rs1920505261,2
    --48346338(+) ATACGA/GCATCC 2 -- int10--------
    rs74882651,2
    H--48346391(+) GATCCT/GAGCCC 2 -- int14Minor allele frequency- G:0.00NS EA 416
    rs1387709251,2
    C--48346455(+) TGGGT-/GGGGTG 2 -- int10--------
    rs1476987991,2
    --48346580(+) CACGTA/GATTTT 2 -- int10--------
    rs1849785281,2
    --48346620(+) TGTCTA/GCGTGC 2 -- int10--------
    rs1893088941,2
    --48346651(+) GGGATA/GCTTAT 2 -- int10--------
    rs1148662321,2
    F--48346826(+) GGATTC/TTGCCC 2 -- int11Minor allele frequency- T:0.02WA 118
    rs1407773001,2
    C--48346879(+) GAAAGA/GGATCA 2 -- int10--------
    rs111684161,2
    C,F,A--48347008(+) AAGAGC/TGTCTC 2 -- int115Minor allele frequency- N:0.00EA NA WA CSA 590
    rs1447014661,2
    --48347009(+) AGAGCA/GTCTCT 2 -- int10--------
    rs1809244651,2
    --48347020(+) AGTCAC/TGCGTG 2 -- int10--------
    rs1861524521,2
    --48347197(+) ATTTAC/TTGGGG 2 -- int10--------
    rs1478900911,2
    C--48347208(+) TCCTGC/TAATGT 2 -- int10--------
    rs1489270571,2
    --48347462(+) ATGAAC/TGAAGG 4 -- int1 us2k10--------
    rs1438248071,2
    --48347471(+) GGTAGC/TGCACA 4 -- int1 us2k10--------
    rs1894272521,2
    --48347606(+) CAGGCC/TGTTGT 4 -- int1 us2k10--------
    rs1383219141,2
    --48347610(+) TGTTG-/GTTATGC 4 -- int1 us2k10--------
    rs1511041841,2
    C--48347660(+) GAAACC/TATTAA 4 -- int1 us2k10--------
    rs1410565061,2
    --48347726(+) TGGGAA/GGCAAG 4 -- int1 us2k10--------
    rs1450906151,2
    C--48347737(+) GTGGGC/TGGATC 4 -- int1 us2k10--------
    rs1814220901,2
    --48347745(+) ATCACC/GTGAAG 4 -- int1 us2k10--------
    rs1179213261,2
    F--48347754(+) AGTCAG/AGAGTT 4 -- int1 us2k11Minor allele frequency- A:0.04EA 120
    rs1118250661,2
    F--48347776(+) TGACCA/GACATG 4 -- int1 us2k11Minor allele frequency- G:0.00CSA 1
    rs1905788681,2
    --48347792(+) AACCCA/GTCTCA 4 -- int1 us2k10--------
    rs1827540391,2
    --48347855(+) CTACTC/TGGGAG 4 -- int1 us2k10--------
    rs600014511,2
    C,F--48347894(+) GGAGGC/TAGTGA 4 -- int1 us2k12Minor allele frequency- T:0.14WA 120
    rs1862821471,2
    --48347930(+) AGGAAA/GTCCAA 4 -- int1 us2k10--------
    rs71331461,2
    C,H--48348080(+) GGCACA/TAAAGT 4 -- int1 us2k115Minor allele frequency- T:0.00NS EA NA WA CSA 555
    rs1917969751,2
    --48348102(+) AGTAAC/TGTTCA 4 -- int1 us2k10--------
    rs606792541,2
    C,F--48348131(+) AATCTA/GTAGGA 4 -- int1 us2k15Minor allele frequency- G:0.19WA NA CSA 126
    rs1389524161,2
    --48348172(+) ATTGTA/GGAAGC 4 -- int1 us2k10--------
    rs108757451,2
    C,F,A,H--48348434(+) GTGAAT/AGAATA 4 -- int1 us2k125Minor allele frequency- A:0.21NS EA NA WA 2760
    rs1132125531,2
    F--48348468(+) ACCTAT/CGACCT 4 -- int1 us2k12Minor allele frequency- C:0.05CSA WA 120
    rs1430714031,2
    C--48348488(+) GTTTA-/TTTTTG 4 -- int1 us2k10--------
    rs740869971,2
    C,F--48348516(+) AGAAAG/TGAACA 4 -- int1 us2k