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FOXI1 Gene

protein-coding   GIFtS: 52
GCID: GC05P169532

Forkhead Box I1


(Previous symbol: FKHL10)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Forkhead Box I11 2     HNF-3/Fork-Head Homolog 32 3
FKHL101 2 3 5     FKH102
FREAC62 3 5     HFH32
Forkhead-Related Protein FKHL102 3     Forkhead Box Protein I12
Forkhead-Related Transcription Factor 62 3     Forkhead-Like 102
Hepatocyte Nuclear Factor 3 Forkhead Homolog 32 3     Forkhead-Related Activator 62
FREAC-62 3     HNF-3/Fork-Head Homolog-32
HFH-32 3     

External Ids:    HGNC: 38151   Entrez Gene: 22992   Ensembl: ENSG000001682697   OMIM: 6010935   UniProtKB: Q129513   

Export aliases for FOXI1 gene to outside databases

Previous GC identifers: GC05P169768 GC05P170236 GC05P169468 GC05P169513 GC05P169465 GC05P164630


(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 FOXI1 Gene:
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead
domain. The specific function of this gene has not yet been determined; however, it is possible that this gene
plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in
this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for FOXI1 Gene:
FOXI1 (forkhead box I1) is a protein-coding gene. Diseases associated with FOXI1 include enlarged vestibular aqueduct, and foxi1-related pendred syndrome. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXA2.

UniProtKB/Swiss-Prot: FOXI1_HUMAN, Q12951
Function: Transcriptional activator required for the development of normal hearing, sense of balance and kidney
function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the
development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1,
SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By
similarity)

Gene Wiki entry for FOXI1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXI1 gene promoter:
         CREB   PPAR-gamma1   Sp1   deltaCREB   PPAR-gamma2   NRSF form 2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXI1 promoter sequence
   Search Chromatin IP Primers for FOXI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXI1


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

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q35.1   HGNC cytogenetic band: 5q34

FOXI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXI1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P169532:  view genomic region     (about GC identifiers)

Start:
169,532,901 bp from pter      End:
169,536,729 bp from pter
Size:
3,829 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FOXI1_HUMAN, Q12951 (See protein sequence)
Recommended Name: Forkhead box protein I1  
Size: 378 amino acids; 40973 Da
Sequence caution: Sequence=AAB50574.1; Type=Erroneous initiation; Sequence=AAU12169.1; Type=Erroneous initiation;
Secondary accessions: Q14518 Q66SR7 Q8N6L8
Alternative splicing: 2 isoforms:  Q12951-1   Q12951-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FOXI1: NX_Q12951

Explore proteomics data for FOXI1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FOXI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_036320.2  NP_658982.1  

    ENSEMBL proteins: 
     ENSP00000304286   ENSP00000415483  

    FOXI1 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for FOXI1

    FOXI1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FOXI1
    Cloud-Clone Corp. CLIAs for FOXI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FOX: Forkhead boxes

    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q12951

    ProtoNet protein and cluster: Q12951

    UniProtKB/Swiss-Prot: FOXI1_HUMAN, Q12951
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXI1 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: FOXI1_HUMAN, Q12951
    Function: Transcriptional activator required for the development of normal hearing, sense of balance and kidney
    function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the
    development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1,
    SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By
    similarity)

         Genatlas biochemistry entry for FOXI1:
    transcription factor-like 10,with a Drosophila homeo forkhead DNA binding domain homolog

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IDA19214237
    GO:0008301DNA binding, bending NAS7957066
    GO:0043565sequence-specific DNA binding ISS--
    GO:0044212transcription regulatory region DNA binding ISS--
         
    FOXI1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Foxi1):
     behavior/neurological  cellular  craniofacial  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  renal/urinary system  reproductive system  skeleton 

    FOXI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Foxi1tm1Sven for FOXI1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FOXI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FOXI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FOXI1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXI1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for FOXI1 (see all 510):
    AADACL4,  AASDH,  ABCA8,  ABCC2,  ABHD8,  ABI3BP,  ABRA,  ABTB2,  ACAD10,  ACP6

    miRNA
    Products:
        
    miRTarBase miRNAs that target FOXI1:
    hsa-mir-335-5p (MIRT017392)

    Block miRNA regulation of human, mouse, rat FOXI1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate FOXI1:
    hsa-miR-4330 hsa-miR-432 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidFOXI1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FOXI1
    Predesigned siRNA for gene silencing in human, mouse, rat FOXI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FOXI1

    Clone
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    OriGene clones in human, mouse for FOXI1 (see all 12)
    OriGene ORF clones in mouse, rat for FOXI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FOXI1 (NM_012188)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXI1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FOXI1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FOXI1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXI1


    (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
    FOXI1_HUMAN, Q12951: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC19214237

    FOXI1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXI1: 
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FOXI1

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0009790embryo development NAS7957066
    GO:0042472inner ear morphogenesis IEA--
    GO:0045893positive regulation of transcription, DNA-templated ----

    FOXI1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for FOXI1



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FOXI1 gene (2 alternative transcripts): 
    NM_012188.4  NM_144769.2  

    Unigene Cluster for FOXI1:

    Forkhead box I1
    Hs.87236  [show with all ESTs]
    Unigene Representative Sequence: NM_012188
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306268 ENST00000449804(uc003mai.4 uc003maj.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FOXI1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate FOXI1:
    hsa-miR-4330 hsa-miR-432 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidFOXI1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FOXI1
    Predesigned siRNA for gene silencing in human, mouse, rat FOXI1
    Clone
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    OriGene clones in human, mouse for FOXI1 (see all 12)
    OriGene ORF clones in mouse, rat for FOXI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): FOXI1 (NM_012188)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXI1
    Primer
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    OriGene qPCR primer pairs and template standards for FOXI1
    OriGene qSTAR qPCR primer pairs in human, mouse for FOXI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FOXI1
      QuantiTect SYBR Green Assays in human, mouse, rat FOXI1
      QuantiFast Probe-based Assays in human, mouse, rat FOXI1

    Additional mRNA sequence: 

    AK292176.1 AY707089.1 BC029778.1 L13203.1 

    2 DOTS entries:

    DT.100742346  DT.40124462 

    13 AceView cDNA sequences:

    CA489445 NM_144769 BX279766 NM_012188 AI302387 AY707089 BC029778 AA741219 
    BM982734 CA489033 L13203 BI761811 BG271646 

    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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    FOXI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGTGAG
    FOXI1 Expression
    About this image


    FOXI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Intercalated Cells Renal Collecting Duct System
             Renal Collecting Duct System
     
     Epithelial Cells
             Intercalated Cells Renal Collecting Duct System
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
    FOXI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FOXI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.87236

    UniProtKB/Swiss-Prot: FOXI1_HUMAN, Q12951
    Tissue specificity: Expressed in kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXI1: 
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FOXI1
    OriGene qSTAR qPCR primer pairs in human, mouse for FOXI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FOXI1
    QuantiTect SYBR Green Assays in human, mouse, rat FOXI1
    QuantiFast Probe-based Assays in human, mouse, rat FOXI1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXI1

    (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 animals.

    Orthologs for FOXI1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxi11 , 5 forkhead box I11, 5 84.01(n)1
    85.44(a)1
      11 (19.65 cM)5
    142331  NM_023907.41  NP_076396.31 
     342043385 
    chicken
    (Gallus gallus)
    Aves FOXI11 forkhead box I1 69.16(n)
    71.2(a)
      427613  XM_425185.4  XP_425185.1 
    lizard
    (Anolis carolinensis)
    Reptilia FOXI16
    forkhead box I1
    71(a)
    1 ↔ 1
    2(120523068-120525295)
    African clawed frog
    (Xenopus laevis)
    Amphibia foxi1-prov2 forkhead box I1 75.75(n)    BC042303.1 
    zebrafish
    (Danio rerio)
    Actinopterygii foxi3b2 forkhead box I3b 71.71(n)   387258  AY331584.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta croc6
    crocodile
    17(a)
    1 → many
    3L(21467233-21469579)


    ENSEMBL Gene Tree for FOXI1 (if available)
    TreeFam Gene Tree for FOXI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FOXI1 gene
    FOXA22  FOXD4L12  FOXC22  FOXI22  FOXB12  FOXE32  FOXC12  FOXD4L22  
    FOXD4L32  FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXA12  FOXE12  
    FOXL12  FOXB22  FOXD4L62  FOXS12  FOXD22  FOXL22  FOXD42  
    9 SIMAP similar genes for FOXI1 using alignment to 3 protein entries:     FOXI1_HUMAN (see all proteins):
    FOXJ3    FOXN3    FOXI2    FOXN4    FOXL2    FOXI3
    FOXC1    FOXS1    FOXB1

    FOXI1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FOXI1
    PGOHUM00000240140


    (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 FOXI1 (see all 172)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219093401,2
    C,Fpathogenic1169763321(+) ACCAGG/AGGGCA 3 /E /G int1 mis11Minor allele frequency- A:0.00NA 4540
    rs1219093411,2
    Cpathogenic1169763348(+) GAAGCG/AGCCCT 3 /Q /R int1 mis11Minor allele frequency- A:0.00EU 1071
    rs38392851,2
    C--164634593(-) AAAAA-/AGGAAG 2 -- ut31 trp31Minor allele frequency- A:0.50CSA 2
    rs359645101,2
    C--164634601(+) TTTTT-/C/TAGCCC 4 -- ut310--------
    rs1137148701,2
    C--169758993(+) GTGTGC/TCTTAC 2 -- us2k12Minor allele frequency- T:0.04CSA WA 120
    rs1154159751,2
    F--169759020(+) ACAGCC/TAGAGC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1485483691,2
    --169759310(+) GGGAGA/GAAGCT 2 -- us2k10--------
    rs1879672651,2
    --169759341(+) CAAGCA/GGGAGC 2 -- us2k10--------
    rs1168108041,2
    F--169759347(+) GGAGCG/AAGGTG 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs601019831,2
    C,F--169759372(+) TGACCC/TCAACT 2 -- us2k17Minor allele frequency- T:0.41WA NA CSA EA 366

    HapMap Linkage Disequilibrium report for FOXI1 (169532901 - 169536729 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FOXI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830547CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): FOXI1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FOXI1
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXI1

    (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: 601093   
    OMIM disorders: 600791  
    11 diseases for FOXI1:    
    About MalaCards
    enlarged vestibular aqueduct    foxi1-related pendred syndrome    pendred syndrome/dfnb4    pendred syndrome
    nonsyndromic hearing loss and deafness, autosomal recessive    deafness and hereditary hearing loss    renal tubular acidosis    lymphedema
    nonsyndromic hearing loss and deafness    nonsyndromic deafness    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for FOXI1:
    Enlarged vestibular aqueduct     Renal tubular acidosis     Nonsyndromic deafness

    FOXI1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FOXI1
    Human Genome Epidemiology (HuGE) Navigator: FOXI1 (4 documents)

    Export disorders for FOXI1 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)
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    PubMed articles for FOXI1 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with FOXI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PubMed id 7957066)1, 2, 3 Pierrou S.... Carlsson P. (EMBO J. 1994)
    2. The winged helix transcriptional activator HFH-3 is expressed in the distal tubules of embryonic and adult mouse kidney. (PubMed id 9153225)1, 2, 9 Overdier D.G.... Costa R.H. (J. Biol. Chem. 1997)
    3. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (PubMed id 20621367)1, 4 Jonard L....Marlin S. (Int. J. Pediatr. Otorhinolaryngol. 2010)
    4. Candidate gene analysis in primary lymphedema. (PubMed id 18564921)1, 4 Ferrell R.E....Finegold D.N. (Lymphat Res Biol 2008)
    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. Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). (PubMed id 8825632)1, 3 Larsson C....Carlsson P. (Genomics 1995)
    7. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PubMed id 23648065)1 Low S.K....Nakamura Y. (Cancer Sci. 2013)
    8. Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. (PubMed id 23965030)1 Landa P....Bitner-Glindzicz M. (BMC Med. Genet. 2013)
    9. Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. (PubMed id 22412181)1 Chen K....Jiang H. (Otolaryngol Head Neck Surg 2012)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (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: 2299 HGNC: 3815 AceView: FOXI1 Ensembl:ENSG00000168269 euGenes: HUgn2299
    ECgene: FOXI1 H-InvDB: FOXI1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FOXI1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FOXI1 gene:
    Search GeneIP for patents involving FOXI1

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



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