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GIFtS

PFAS Gene

protein-coding   GIFtS: 65
GCID: GC17P008152

Phosphoribosylformylglycinamidine Synthase

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Phosphoribosylformylglycinamidine Synthase1 2     FGAMS2 3
FGARAT2 3 5     FGAM Synthase2 3
FGAR Amidotransferase1 2     EC 6.3.5.33 8
Formylglycinamide Ribotide Amidotransferase2 3     PURL2
Formylglycinamide Ribotide Synthetase2 3     KIAA03613

External Ids:    HGNC: 88631   Entrez Gene: 51982   Ensembl: ENSG000001789217   OMIM: 6021335   UniProtKB: O150673   

Export aliases for PFAS gene to outside databases

Previous GC identifers: GC17U990074 GC17P009241 GC17P008099 GC17P008353 GC17P008093 GC17P008048


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

Entrez Gene summary for PFAS Gene:
Purines are necessary for many cellular processes, including DNA replication, transcription, and energy
metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of
purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PFAS Gene: 
PFAS (phosphoribosylformylglycinamidine synthase) is a protein-coding gene. Diseases associated with PFAS include toxic megacolon, and megacolon, and among its related super-pathways are Metabolic pathways and Purine metabolism. GO annotations related to this gene include phosphoribosylformylglycinamidine synthase activity and ATP binding.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PFAS gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFAS promoter sequence
   Search SABiosciences Chromatin IP Primers for PFAS

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


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P008152:  view genomic region     (about GC identifiers)

Start:
8,150,936 bp from pter      End:
8,173,809 bp from pter
Size:
22,874 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067 (See protein sequence)
Recommended Name: Phosphoribosylformylglycinamidine synthase  
Size: 1338 amino acids; 144734 Da
Subcellular location: Cytoplasm (By similarity)
Sequence caution: Sequence=BAA20816.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6H8V8

Explore the universe of human proteins at neXtProt for PFAS: NX_O15067

Explore proteomics data for PFAS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15067

  • 4/8 DME Specific Peptides for PFAS (O15067) (see all 8)
     EMAFAGN  HDVSDGG  MPHPERA  GKDSLSM 

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

    PFAS Protein Expression
    REFSEQ proteins: NP_036525.1  
    ENSEMBL proteins: 
     ENSP00000463362   ENSP00000464689   ENSP00000464671   ENSP00000313490   ENSP00000463045  
     ENSP00000462874   ENSP00000463103   ENSP00000443244   ENSP00000441706  
    Reactome Protein details: O15067
    Human Recombinant Protein Products for PFAS: 
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    Cloud-Clone Corp. Proteins for PFAS 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS--
    GO:0005829cytosol TAS--

    PFAS for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for PFAS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR016188 PurM_N-like
     IPR000728 AIR_synth_N_dom
     IPR010073 PRibForGlyAmidine_synth
     IPR010918 AIR_synth_C_dom
     IPR017926 GATASE

    Graphical View of Domain Structure for InterPro Entry O15067

    ProtoNet protein and cluster: O15067

    2 Blocks protein domains:
    IPB000728 AIR synthase related protein
    IPB010918 AIR synthase related protein


    UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067
    Similarity: In the N-terminal section; belongs to the FGAMS family
    Similarity: Contains 1 glutamine amidotransferase type-1 domain


    PFAS for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PUR4_HUMAN, O15067
    Catalytic activity: ATP + N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide + L-glutamine + H(2)O = ADP +
    phosphate + 2-(formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine + L-glutamate

         Genatlas biochemistry entry for PFAS:
    formylglycineamide ribonucleotide amidotransferase,150kDa,FGAM synthetase,catalyzing the fourth step of the de
    novo purine biosynthesis,leading to formyl glycinamidine ribonucleotide (FGAM)

         Enzyme Number (IUBMB): EC 6.3.5.31 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004642phosphoribosylformylglycinamidine synthase activity IDA10548741
    GO:0005524ATP binding IEA--
         
    PFAS for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pfas):
     craniofacial  integument  pigmentation  skeleton  vision/eye 

    PFAS for phenotypes           About GeneDecksing

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

    SuperPaths for PFAS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Purine metabolism
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.33
    Metabolism of nucleotides0.42
    3adenosine ribonucleotides de novo biosynthesis
    superpathway of purine nucleotides de novo biosynthesis I0.49
    4Purine metabolism
    Purine metabolism0.38
    55-aminoimidazole ribonucleotide biosynthesis I
    5-aminoimidazole ribonucleotide biosynthesis I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PFAS
        5-aminoimidazole ribonucleotide biosynthesis I
    superpathway of purine nucleotides de novo biosynthesis I

    4        Reactome Pathways for PFAS
        Metabolism of nucleotides
    Metabolism
    Purine ribonucleoside monophosphate biosynthesis
    Purine metabolism


    2         Kegg Pathways  (Kegg details for PFAS):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: PUR4_HUMAN, O15067
    Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from
    N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 1/2


    PFAS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PFAS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/81 Interacting proteins for PFAS (O150671, 3 ENSP000003134904) via UniProtKB, MINT, STRING, and/or I2D (see all 81)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNFRSF10DQ9UBN61, 3, ENSP000003102634EBI-1052653,EBI-1044859 I2D: score=2 STRING: ENSP00000310263
    HLA-BP304801, 3EBI-1052653,EBI-1054175 I2D: score=1 I2D: score=1 
    EPB41P111711, 3EBI-1052653,EBI-1050906 I2D: score=2 
    MCCP235081, 3EBI-1052653,EBI-307531 I2D: score=2 
    TRAF6Q9Y4K31, 3EBI-1052653,EBI-359276 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006189'de novo' IMP biosynthetic process NAS10548741
    GO:0006541glutamine metabolic process IEA--
    GO:0009156ribonucleoside monophosphate biosynthetic process ----
    GO:0009168purine ribonucleoside monophosphate biosynthetic process TAS--

    PFAS for ontologies           About GeneDecksing



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

    PFAS for compounds           About GeneDecksing

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

    Browse Tocris compounds for PFAS (PUR4)

    3 HMDB Compounds for PFAS    About this table
    CompoundSynonyms CAS #PubMed Ids
    5'-Phosphoribosyl-N-formylglycinamide5'-P-ribosyl-N-formylglycineamide (see all 8)----
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    Phosphoribosylformylglycineamidine5'-phosphoribosyl-N-formyl glycineamidine (see all 6)37721-04-3--

    2 DrugBank Compounds for PFAS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 17016423 3345200 2347042
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17139284 17016423 2347042

    3 Novoseek inferred chemical compound relationships for PFAS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inosine monophosphate 70.1 6 15566465 (1)
    purine 66.8 4 9328467 (1), 10548741 (1), 15566465 (1)
    guanylate 51.9 1 2347042 (1)

    Search CenterWatch for drugs/clinical trials and news about PFAS / PUR4

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

    REFSEQ mRNAs for PFAS gene: 
    NM_012393.2  

    Unigene Cluster for PFAS:

    Phosphoribosylformylglycinamidine synthase
    Hs.573976  [show with all ESTs]
    Unigene Representative Sequence: NM_012393
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585183 ENST00000584044 ENST00000580356 ENST00000314666(uc002gkr.3 uc010vuv.2 uc002gks.3)
    ENST00000581242 ENST00000585319 ENST00000583059 ENST00000581288 ENST00000578979
    ENST00000546020 ENST00000580251 ENST00000545834(uc010cnw.1)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AB002359.1 AK292402.1 AK292804.1 AK295895.1 AY545554.1 BC006522.2 BC009318.2 BC063538.1 
    BC146768.1 BC167158.1 

    9 DOTS entries:

    DT.210405  DT.100778167  DT.102828379  DT.100744649  DT.100778165  DT.101981676  DT.121005380  DT.121005387 
    DT.100663545 

    24/97 AceView cDNA sequences (see all 97):

    AA593024 AA393540 BQ186094 CB991935 BQ065341 BQ427996 BQ216997 CB123130 
    BM476397 CB991938 BQ216455 BC063538 AI064852 BM834506 AL044325 NM_012393 
    CB128507 CB997531 AI624181 BG818824 BG012673 BE778087 CB142898 BU150914 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for PFAS (see all 18)    About this scheme

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

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

    ExUns: 29a · 29b ^ 30
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for PFAS

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

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


    PFAS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.573976
        SABiosciences Custom PCR Arrays for PFAS
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PFAS gene from 8/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfas1 , 5 phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)1, 5 84.82(n)1
    88.56(a)1
      11 (42.26 cM)5
    2378231  NM_001159519.11  NP_001152991.11 
     689856975 
    lizard
    (Anolis carolinensis)
    Reptilia PFAS6
    --
    Uncharacterized protein
    68(a)
    62(a)
    many → 1
    many → 1
    GL343466.1(207082-233807)
    GL345100.1(10-12571)
    zebrafish
    (Danio rerio)
    Actinopterygii pfas1 phosphoribosylformylglycinamidine synthase 62.44(n)
    64.34(a)
      570437  NM_001045202.1  NP_001038667.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ade21 adenosine 2 55.34(n)
    51.14(a)
      33847  NM_164676.1  NP_723147.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F10F2.21 Protein F10F2.2 50.84(n)
    50.44(a)
      175608  NM_065541.4  NP_497942.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE6(YGR061C)4
    ADE61
    Formylglycinamidine-ribonucleotide (FGAM)-synthetase, more4
    Ade6p1
    44.4(n)1
    37.72(a)1
      7(615965-611889)4
    8529521, 4  NP_011575.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PUR41 phosphoribosylformylglycinamidine synthase 53.01(n)
    51.61(a)
      843766  NM_106086.4  NP_177566.3 
    rice
    (Oryza sativa)
    Liliopsida Os.269522 Oryza sativa (japonica cultivar-group) cDNA clone0 more 77.97(n)    NM_190202.1 


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

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

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

    10/682 SNPs in PFAS are shown (see all 682)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497422131,2
    --8153463(+) AAAAAC/GAAGCT 1 -- int10--------
    rs1478394221,2
    --8153682(+) GGTGAA/GTGATG 1 -- int10--------
    rs1396676171,2
    --8153685(+) GAGTGA/GTGGTG 1 -- int10--------
    rs732470131,2
    C,F--8153730(+) TGAAGA/TGATGA 1 -- int12Minor allele frequency- T:0.10WA 120
    rs1452044801,2
    --8153738(+) TGAGAC/GATTTG 1 -- int10--------
    rs748373221,2
    F--8153761(+) AAATAG/CATTTC 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs787849761,2
    C,F--8153794(+) TCTGAG/AGGAAA 1 -- int11Minor allele frequency- A:0.03NA 120
    rs732470141,2
    C,F--8153928(+) AGGCAG/ATGGGA 1 -- int12Minor allele frequency- A:0.10WA 120
    rs1889036021,2
    --8153979(+) CTTTGA/GATGTT 1 -- int10--------
    rs775359961,2
    C,F--8154240(+) GAGATG/AAAGAA 1 -- int15Minor allele frequency- A:0.09NA CSA WA EA 362

    HapMap Linkage Disequilibrium report for PFAS (8150936 - 8173809 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PFAS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833353CNV Loss17160897
    nsv907661CNV Gain21882294


    Human Gene Mutation Database (HGMD): PFAS
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602133    OMIM disorders: --

    10 diseases for PFAS:    About MalaCards
    toxic megacolon    megacolon    alcohol-related neurodevelopmental disorder    fetal alcohol syndrome
    partial fetal alcohol syndrome    food allergy    alcoholism    down syndrome
    pneumonia    tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for PFAS:
    alcohol-related neurodevelopmental disorder     Fetal alcohol syndrome     Partial fetal alcohol syndrome

    PFAS for disorders           About GeneDecksing

    Genetic Association Database (GAD): PFAS
    Human Genome Epidemiology (HuGE) Navigator: PFAS (1 document)

    Export disorders for PFAS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PFAS gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with PFAS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human phosphoribosylformylglycinamide amidotransferase (FGARAT): regional mapping, complete coding sequence, isolation of a functional genomic clone, and DNA sequence analysis. (PubMed id 10548741)1, 2, 9 Patterson D.... Bowersox J. (1999)
    2. Purification of, generation of monoclonal antibodies to, and mapping of phosphoribosyl N-formylglycinamide amidotransferase. (PubMed id 8110788)1, 3, 9 Barnes T.S....Patterson D. (1994)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    6. The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome. (PubMed id 9328467)1, 9 Brodsky G....Patterson D. (1997)
    7. Oncolytic activity and mechanism of action of a novel L-cysteine derivative, L-cysteine, ethyl ester, S-(N-methylcarbamate) monohydrochloride. (PubMed id 2347042)7, 9 Jayaram H.N....Weber G. (1990)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5198 HGNC: 8863 AceView: PFAS Ensembl:ENSG00000178921 euGenes: HUgn5198
    ECgene: PFAS Kegg: 5198 H-InvDB: PFAS

    (According to HUGE)
    About This Section
    HUGE: KIAA0361

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PFAS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PFAS gene:
    Search GeneIP for patents involving PFAS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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