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FRAS1 Gene

protein-coding   GIFtS: 57
GCID: GC04P078978

Fraser Syndrome 1

  See FRAS1-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
Fraser Syndrome 11 2
Extracellular Matrix Protein FRAS12
KIAA15003

External Ids:    HGNC: 191851   Entrez Gene: 801442   Ensembl: ENSG000001387597   OMIM: 6078305   UniProtKB: Q86XX43   

Export aliases for FRAS1 gene to outside databases

Previous GC identifers: GC00U900628 GC04P079732 GC04P079437 GC04P079336 GC04P079198 GC04P074729


(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 FRAS1 Gene:
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement
membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a
multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2009)

GeneCards Summary for FRAS1 Gene:
FRAS1 (Fraser syndrome 1) is a protein-coding gene. Diseases associated with FRAS1 include fras1-related fraser syndrome, and fraser syndrome. An important paralog of this gene is FREM2.

Gene Wiki entry for FRAS1 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_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FRAS1 gene promoter:
         Pbx1a   MyoD   LUN-1   NF-kappaB   SREBP-1b   Evi-1   C/EBPalpha   HFH-1   c-Myb   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRAS1 promoter sequence
   Search Chromatin IP Primers for FRAS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRAS1


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

Entrez Gene cytogenetic band: 4q21.21   Ensembl cytogenetic band:  4q21.21   HGNC cytogenetic band: 4q21.21

FRAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRAS1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P078978:  view genomic region     (about GC identifiers)

Start:
78,978,724 bp from pter      End:
79,465,423 bp from pter
Size:
486,700 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: FRAS1_HUMAN, Q86XX4 (See protein sequence)
Recommended Name: Extracellular matrix protein FRAS1 precursor  
Size: 4008 amino acids; 443214 Da
Sequence caution: Sequence=BAB15216.1; Type=Frameshift; Positions=1858, 1951;
Secondary accessions: A2RRR8 Q86UZ4 Q8N3U9 Q8NAU7 Q96JW7 Q9H6N9 Q9P228
Alternative splicing: 5 isoforms:  Q86XX4-1   Q86XX4-2   Q86XX4-4   Q86XX4-5   Q86XX4-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FRAS1: NX_Q86XX4

Explore proteomics data for FRAS1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn361, Asn728, Asn1093, Asn1108, Asn1504, Asn1777, Asn1948, Asn1978, Thr2331, Asn2563,
                                 Asn2664, Asn2682, Asn2908, Asn2985, Asn3070, Asn3218, Asn3676, Asn3875
  • Modification sites at PhosphoSitePlus

  • See FRAS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159605.1  NP_079350.5  

    ENSEMBL proteins: 
     ENSP00000326330   ENSP00000425583   ENSP00000423645   ENSP00000423809   ENSP00000422221  
     ENSP00000422834   ENSP00000264895   ENSP00000264899  

    FRAS1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for FRAS1
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    Novus Biologicals FRAS1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FRAS1

     
    Search eBioscience for Proteins for FRAS1 

    FRAS1 Antibody Products:

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    Novus Biologicals FRAS1 Antibodies
    Abcam antibodies for FRAS1
    Cloud-Clone Corp. Antibodies for FRAS1
    Search ThermoFisher Antibodies for FRAS1
    Search LSBio for Antibodies for FRAS1

    FRAS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for FRAS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FRAS1
    Cloud-Clone Corp. CLIAs for FRAS1
    Search eBioscience for ELISAs for FRAS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR006212 Furin_repeat
     IPR000742 EG-like_dom
     IPR003644 Calx_beta
     IPR009030 Growth_fac_rcpt_N_dom
     IPR001007 VWF_C

    Graphical View of Domain Structure for InterPro Entry Q86XX4

    ProtoNet protein and cluster: Q86XX4

    2 Blocks protein domains:
    IPB001007 von Willebrand factor
    IPB006212 Furin-like repeat


    UniProtKB/Swiss-Prot: FRAS1_HUMAN, Q86XX4
    Domain: The Calx-beta domains bind calcium with high affinity and undergo a major conformational shift upon
    binding (By similarity)
    Similarity: Belongs to the FRAS1 family
    Similarity: Contains 5 Calx-beta domains
    Similarity: Contains 12 CSPG (NG2) repeats
    Similarity: Contains 14 FU (furin-like) repeats
    Similarity: Contains 6 VWFC domains


    Find genes that share domains with FRAS1           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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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with FRAS1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FRAS1:
     Decreased number of cells in m  Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Fras1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  integument 
     limbs/digits/tail  mortality/aging  no phenotypic analysis  other  renal/urinary system 
     respiratory system  vision/eye 

    Find genes that share phenotypes with FRAS1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FRAS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FRAS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FRAS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FRAS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FRAS1:
    hsa-mir-124-3p (MIRT022324)

    Block miRNA regulation of human, mouse, rat FRAS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FRAS1 (see all 83):
    hsa-miR-520f hsa-miR-605 hsa-miR-138-2* hsa-miR-622 hsa-miR-1 hsa-miR-548b-3p hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidFRAS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FRAS1
    Predesigned siRNA for gene silencing in human, mouse, rat FRAS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FRAS1

    Clone
    Products:
         
    OriGene clones in human, mouse for FRAS1 (see all 11)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FRAS1 (NM_001166133)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FRAS1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FRAS1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FRAS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FRAS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRAS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FRAS1_HUMAN, Q86XX4: Cell membrane; Single-pass type I membrane protein; Extracellular side (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0031012colocalizes with extracellular matrix ISS--

    Find genes that share ontologies with FRAS1           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 FRAS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for FRAS1 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FRAS1
    Interactions:

        GeneGlobe Interaction Network for FRAS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for FRAS1 (Q86XX42, 3 ENSP000002648954) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRIP1Q9Y3R03, ENSP000003810984I2D: score=1 STRING: ENSP00000381098
    TP53ENSP000002693054STRING: ENSP00000269305
    DMXL1ENSP000003096904STRING: ENSP00000309690
    DMXL2ENSP000002510764STRING: ENSP00000251076
    HSPBP1ENSP000002556314STRING: ENSP00000255631
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002009morphogenesis of an epithelium IEA--
    GO:0007154cell communication IEA--
    GO:0015031protein transport IEA--
    GO:0043588skin development IEA--

    Find genes that share ontologies with FRAS1           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 FRAS1

    1 HMDB Compound for FRAS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 FRAS1 gene (5 alternative transcripts): 
    NM_001166133.1  NM_025074.6  NM_020875.1  NM_032863.2  NM_206841.1  

    Unigene Cluster for FRAS1:

    Fraser syndrome 1
    Hs.369448  [show with all ESTs]
    Unigene Representative Sequence: NM_025074
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000325942(uc003hkw.3 uc010ijj.2) ENST00000508909 ENST00000502446(uc003hky.1 uc003hla.1)
    ENST00000508900(uc003hkz.3) ENST00000510944 ENST00000512123(uc003hlc.1)
    ENST00000509802 ENST00000264895(uc003hlb.2) ENST00000264899
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FRAS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FRAS1 (see all 83):
    hsa-miR-520f hsa-miR-605 hsa-miR-138-2* hsa-miR-622 hsa-miR-1 hsa-miR-548b-3p hsa-let-7i hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidFRAS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FRAS1
    Predesigned siRNA for gene silencing in human, mouse, rat FRAS1
    Clone
    Products:
         
    OriGene clones in human, mouse for FRAS1 (see all 11)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FRAS1 (NM_001166133)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FRAS1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FRAS1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FRAS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FRAS1
      QuantiTect SYBR Green Assays in human, mouse, rat FRAS1
      QuantiFast Probe-based Assays in human, mouse, rat FRAS1

    Additional mRNA sequence: 

    AB040933.2 AK025684.1 AK027833.1 AK092082.1 AK096838.1 AL157471.1 AL831853.1 AL833581.1 
    BC009254.2 BC020192.1 BC052281.1 BC064487.1 BC094853.1 BC131820.1 BC131821.1 BX647420.1 
    BX647949.1 CR627393.1 

    13 DOTS entries:

    DT.112660  DT.91961424  DT.100644453  DT.100674041  DT.100772961  DT.40252449  DT.91797323  DT.121263327 
    DT.121263333  DT.40236031  DT.101968750  DT.109827  DT.40308854 

    Selected AceView cDNA sequences (see all 126):

    R46219 BX641547 CF891527 AW138974 BF476189 BE379237 AB040933 CB241455 
    AL157471 BC064487 AA359899 AK092082 BF431523 AX747347 BC052281 AA626318 
    AL831853 NM_025074 NM_206841 AA308673 BX647420 BU753978 AA367418 BE745426 

    GeneLoc Exon Structure


    (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)
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    FRAS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACTGCTTC
    FRAS1 Expression
    About this image


    FRAS1 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
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Epidermis (Integumentary System)
    FRAS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FRAS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369448

    UniProtKB/Swiss-Prot: FRAS1_HUMAN, Q86XX4
    Tissue specificity: Expressed in many adult tissues, with highest levels in kidney, pancreas and thalamus.
    Relatively high expression was also detected in fetal kidney and heart

        Custom PCR Arrays for FRAS1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FRAS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FRAS1
    QuantiTect SYBR Green Assays in human, mouse, rat FRAS1
    QuantiFast Probe-based Assays in human, mouse, rat FRAS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRAS1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FRAS1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fras11 , 5 Fraser syndrome 1 homolog (human)1, 5 84.5(n)1
    85.05(a)1
      5 (47.29 cM)5
    2314701  NM_175473.31  NP_780682.31 
     963739555 
    chicken
    (Gallus gallus)
    Aves FRAS11 Fraser syndrome 1 71.28(n)
    70.06(a)
      422506  XM_420470.4  XP_420470.4 
    lizard
    (Anolis carolinensis)
    Reptilia FRAS16
    Fraser syndrome 1
    85(a)
    1 ↔ 1
    5(145558204-145588750)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fras11 Fraser syndrome 1 67.75(n)
    66.93(a)
      100487299  XM_002935451.2  XP_002935497.2 
    zebrafish
    (Danio rerio)
    Actinopterygii fras11 Fraser syndrome 1 64.55(n)
    62.57(a)
      563428  NM_001130840.1  NP_001124312.1 


    ENSEMBL Gene Tree for FRAS1 (if available)
    TreeFam Gene Tree for FRAS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FRAS1 gene
    FREM22  CSPG42  FREM12  FREM32  
    3 SIMAP similar genes for FRAS1 using alignment to 10 protein entries:     FRAS1_HUMAN (see all proteins):
    DKFZp761P1423    PCSK6    FREM2

    Find genes that share paralogs with FRAS1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for FRAS1
    PGOHUM00000258261


    (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)
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    Selected SNPs for FRAS1 (see all 10962)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162920281,2
    F--78976876(+) AAAAGG/AGAGGG 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs728587161,2
    C,F--78976963(+) TTCAAC/TAAATG 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1463073581,2
    --78976991(+) ATGTGA/CTTCAA 2 -- us2k10--------
    rs1387510601,2
    C--78977025(+) TGTCCC/TTAGAA 2 -- us2k10--------
    rs1837114921,2
    --78977068(+) AATGTA/GCAAAC 2 -- us2k10--------
    rs1877981741,2
    --78977287(+) GCCAGC/GACAGC 2 -- us2k10--------
    rs1911088301,2
    --78977355(+) GAGACA/GTTTCT 2 -- us2k10--------
    rs1418827381,2
    --78977446(+) TTTTTA/GTTCGG 2 -- us2k10--------
    rs1823602451,2
    C--78977454(+) CGGTCC/TTATAA 2 -- us2k10--------
    rs757036511,2
    C,F--78977470(+) GCTGCC/TGTCAG 2 -- us2k12Minor allele frequency- T:0.10WA EA 238

    HapMap Linkage Disequilibrium report for FRAS1 (78978724 - 79228724 bp, first 250kb of FRAS1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FRAS1 (see all 57):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727856CNV Deletion23290073
    dgv95n16CNV Deletion17901297
    esv2727857CNV Deletion23290073
    esv2240939CNV Deletion18987734
    esv2116983CNV Deletion18987734
    esv990445CNV Deletion20482838
    esv2661198CNV Deletion23128226
    esv2446951CNV Deletion19546169
    esv2666107CNV Deletion23128226
    esv2672233CNV Deletion23128226

    Human Gene Mutation Database (HGMD): FRAS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FRAS1
    DNA2.0 Custom Variant and Variant Library Synthesis for FRAS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607830   
    OMIM disorders: 219000  
    UniProtKB/Swiss-Prot: FRAS1_HUMAN, Q86XX4
  • Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos,
    cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 4 diseases for FRAS1:    
    About MalaCards
    fras1-related fraser syndrome    fraser syndrome    cryptophthalmos    unilateral renal agenesis

    2 diseases from the University of Copenhagen DISEASES database for FRAS1:
    Renal agenesis     Syndactyly

    Find genes that share disorders with FRAS1           About GenesLikeMe

    Genetic Association Database (GAD): FRAS1
    Human Genome Epidemiology (HuGE) Navigator: FRAS1 (2 documents)

    Export disorders for FRAS1 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

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    PubMed articles for FRAS1 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with FRAS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. (PubMed id 12766769)1, 2, 3, 9 McGregor L.K.... Scambler P.J. (Nat. Genet. 2003)
    2. Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. (PubMed id 23473829)1, 2 Hoefele J.... Rost I. (Gene 2013)
    3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    4. Common variants in the trichohyalin gene are associated with straight hair in Europeans. (PubMed id 19896111)1, 4 Medland S.E....Martin N.G. (Am. J. Hum. Genet. 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    8. The clinical spectrum of the Fraser syndrome: report of three new cases and review. (PubMed id 3118036)1, 3 Gattuso J....Baraitser M. (J. Med. Genet. 1987)
    9. A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. (PubMed id 23703922)1 Li W.D....Arlen Price R. (Obesity (Silver Spring) 2013)
    10. A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. (PubMed id 22283518)1 Ng W.Y....Jamieson R.V. (Clin. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 80144 HGNC: 19185 AceView: FRAS1 Ensembl:ENSG00000138759 euGenes: HUgn80144
    ECgene: FRAS1 H-InvDB: FRAS1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1500

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FRAS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FRAS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for FRAS1 gene:
    Search GeneIP for patents involving FRAS1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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