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OFD1 Gene

protein-coding   GIFtS: 63
GCID: GC0XP013752

Oral-Facial-Digital Syndrome 1

(Previous name: retinitis pigmentosa 23 (X-linked recessive))
(Previous symbols: CXorf5, RP23)
  See OFD1-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
Oral-Facial-Digital Syndrome 11 2     JBTS102 5
CXorf51 2 3 5     SGBS22 5
RP231 2 5     71-7A2
Retinitis Pigmentosa 23 (X-Linked Recessive)1 2     Oral-Facial-Digital Syndrome 1 Protein2
Protein 71-7A2 3     

External Ids:    HGNC: 25671   Entrez Gene: 84812   Ensembl: ENSG000000466517   OMIM: 3001705   UniProtKB: O756653   

Export aliases for OFD1 gene to outside databases

Previous GC identifers: GC0XP012991 GC0XP012572 GC0XP013114 GC0XP013512 GC0XP013662 GC0XP011510


(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 OFD1 Gene:
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used
to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however,
unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with
oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been
identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y
chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of
these transcripts has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for OFD1 Gene:
OFD1 (oral-facial-digital syndrome 1) is a protein-coding gene. Diseases associated with OFD1 include joubert syndrome 10, and oral-facial-digital syndrome type i. GO annotations related to this gene include gamma-tubulin binding and alpha-tubulin binding.

UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665
Function: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole
IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the
cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells
required to transduce signals important for development and tissue homeostasis. Plays an important role in
development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the
centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By
similarity)

Gene Wiki entry for OFD1 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_000023.10  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OFD1 gene promoter:
         GR   LHX3b/Lhx3b   NCX/Ncx   Evi-1   RORalpha2   FOXL1   POU2F1   POU2F1a   LHX3a/Lhx3a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOFD1 promoter sequence
   Search Chromatin IP Primers for OFD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OFD1


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

Entrez Gene cytogenetic band: Xp22   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22

OFD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OFD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP013752:  view genomic region     (about GC identifiers)

Start:
13,752,832 bp from pter      End:
13,787,480 bp from pter
Size:
34,649 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665 (See protein sequence)
Recommended Name: Oral-facial-digital syndrome 1 protein  
Size: 1012 amino acids; 116671 Da
Subunit: Homooligomer. Interacts with LCA5. Interacts with RUVBL1; the interaction is direct and may mediate
interaction with the NuA4 histone acetyltransferase complex. Interacts with SDCCAG8; the interaction is direct.
Interacts with MAP1LC3B
Secondary accessions: B9ZVU5 O75666 Q4VAK4
Alternative splicing: 3 isoforms:  O75665-1   O75665-2   O75665-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for OFD1: NX_O75665

Explore proteomics data for OFD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys37, Lys104, Lys125
  • Modification sites at PhosphoSitePlus

  • See OFD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003602.1  
    ENSEMBL proteins: 
     ENSP00000344314   ENSP00000369941   ENSP00000369923   ENSP00000381432  
    Reactome Protein details: O75665

    OFD1 Human Recombinant Protein Products:

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    antibodies-online peptides for OFD1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006594 LisH_dimerisation

    Graphical View of Domain Structure for InterPro Entry O75665

    ProtoNet protein and cluster: O75665

    1 Blocks protein domain: IPB006594 Lissencephaly type-1-like homology motif

    UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665
    Similarity: Belongs to the OFD1 family
    Similarity: Contains 1 LisH domain


    Find genes that share domains with OFD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: OFD1_HUMAN, O75665
    Function: Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole
    IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the
    cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells
    required to transduce signals important for development and tissue homeostasis. Plays an important role in
    development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the
    centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By
    similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19800048
    GO:0043014alpha-tubulin binding ISS--
    GO:0043015gamma-tubulin binding ISS--
         
    Find genes that share ontologies with OFD1           About GenesLikeMe


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ofd1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  limbs/digits/tail  mortality/aging  nervous system  renal/urinary system 
     respiratory system  skeleton 

    Find genes that share phenotypes with OFD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ofd1tm1Bfra for OFD1

       genOway: Develop your customized and physiologically relevant rodent model for OFD1

    miRNA
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    miRTarBase miRNAs that target OFD1:
    hsa-mir-17-5p (MIRT050901), hsa-mir-26b-5p (MIRT029155)

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    3 qRT-PCR Assays for microRNAs that regulate OFD1:
    hsa-miR-612 hsa-miR-320e hsa-miR-1285
    SwitchGear 3'UTR luciferase reporter plasmidOFD1 3' UTR sequence
    Inhib. RNA
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    (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
    OFD1_HUMAN, O75665: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm,
    cytoskeleton, cilium basal body. Nucleus. Note=Localizes to centriole distal ends and to centriolar satellites
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IDA--
    GO:0005829cytosol TAS--
    GO:0005929cilium IDA--

    Find genes that share ontologies with OFD1           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 OFD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    Cell Cycle0.90


    Find genes that share SuperPaths with OFD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for OFD1
        Recruitment of mitotic centrosome proteins and complexes
    Loss of proteins required for interphase microtubule organization,from the centrosome
    Regulation of PLK1 Activity at G2/M Transition
    Loss of Nlp from mitotic centrosomes


        Pathway & Disease-focused RT2 Profiler PCR Array including OFD1: 
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for OFD1

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

    Selected Interacting proteins for OFD1 (O756651, 2, 3 ENSP000003443144) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C7orf55-LUC7L2Q9Y3832, 3MINT-63224 I2D: score=5 
    LUC7L2Q9Y3832, 3MINT-63224 I2D: score=5 
    CCSER2Q9H7U12, 3MINT-63222 I2D: score=5 
    KIAA1377Q9P2H02, 3MINT-63223 I2D: score=5 
    GPRASP1Q5JY772, 3MINT-63221 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006952defense response ----
    GO:0007067NOT mitosis ISS--
    GO:0007099NOT centriole replication ISS--

    Find genes that share ontologies with OFD1           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 OFD1



    (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 OFD1 gene: 
    NM_003611.2  

    Unigene Cluster for OFD1:

    Oral-facial-digital syndrome 1
    Hs.6483  [show with all ESTs]
    Unigene Representative Sequence: NM_003611
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340096(uc004cvp.4 uc010nen.3) ENST00000380567(uc004cvq.4 uc004cvs.4)
    ENST00000485052 ENST00000490265(uc004cvr.4 uc011mil.2) ENST00000466534
    ENST00000464463 ENST00000474705 ENST00000380550(uc010neo.1 uc004cvu.4 uc004cvv.4)
    ENST00000398395
    miRNA
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    hsa-miR-612 hsa-miR-320e hsa-miR-1285
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      QuantiFast Probe-based Assays in human, mouse, rat OFD1

    Additional mRNA sequence: 

    AK225847.1 AK289677.1 AK290354.1 AK297104.1 AK311067.1 BC012324.1 BC030787.1 BC042830.1 
    BC052809.1 BC062432.1 BC092448.1 BC096344.3 BC096345.1 GU727634.1 Y15164.1 

    22 DOTS entries:

    DT.100794905  DT.455647  DT.101959262  DT.95281783  DT.121307239  DT.40257751  DT.92020973  DT.100794904 
    DT.101976838  DT.102831798  DT.97824032  DT.92433664  DT.92433677  DT.99937425  DT.120836434  DT.86849468 
    DT.99939489  DT.100794906  DT.75132428  DT.92433666  DT.95074813  DT.92433675 

    Selected AceView cDNA sequences (see all 181):

    T16276 AI561264 AA994778 BU738646 CA841843 AA173950 AA399610 AA504821 
    BX642834 BM984240 Z41831 AW089662 BX642816 BM756408 AW292752 AA514458 
    BX104531 BG622551 BU676315 BQ018682 CB162920 BX491503 CK429954 BM717178 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OFD1 (see all 10)    About this scheme

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

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


    ECgene alternative splicing isoforms for OFD1

    (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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    OFD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGCTGCCC
    OFD1 Expression
    About this image


    OFD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    OFD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OFD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.6483

    UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665
    Tissue specificity: Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral
    mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb

        Pathway & Disease-focused RT2 Profiler PCR Array including OFD1: 
              Primary Cilia in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OFD1

    (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 OFD1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ofd11 , 5 oral-facial-digital syndrome 1 gene homolog (human)1, 5 77.58(n)1
    67.37(a)1
      X (77.28 cM)5
    2372221  NM_177429.31  NP_803178.21 
     1663900335 
    chicken
    (Gallus gallus)
    Aves OFD11 oral-facial-digital syndrome 1 60.68(n)
    52.64(a)
      418633  XM_416831.4  XP_416831.2 
    lizard
    (Anolis carolinensis)
    Reptilia OFD16
    oral-facial-digital syndrome 1
    43(a)
    1 ↔ 1
    3(120481124-120523225)
    African clawed frog
    (Xenopus laevis)
    Amphibia AJ512827.12   -- 74.01(n)    AJ512827.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AJ534306.12   -- 76.14(n)    AJ534306.1 


    ENSEMBL Gene Tree for OFD1 (if available)
    TreeFam Gene Tree for OFD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OFD1 gene

    Find genes that share paralogs with OFD1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for OFD1 (see all 17)
    PGOHUM00000235564 PGOHUM00000233768 PGOHUM00000233773 PGOHUM00000233776 PGOHUM00000233803


    (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 OFD1 (see all 707)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0587584
    Orofaciodigital syndrome 1 (OFD1)4--see VAR_0587582 G S mis40--------
    VAR_0691004
    Orofaciodigital syndrome 1 (OFD1)4--see VAR_0691002 M R mis40--------
    VAR_0155744
    Orofaciodigital syndrome 1 (OFD1)4--see VAR_0155742 S F mis40--------
    VAR_0307894
    Orofaciodigital syndrome 1 (OFD1)4--see VAR_0307892 A T mis40--------
    VAR_0137544
    Orofaciodigital syndrome 1 (OFD1)4--see VAR_0137542 S R mis40--------
    rs3122628051,2
    Cnon-pathogenic113680149(+) AACAAA/G/TAGTGA 1 -- int10--------
    rs1453002451,2
    C,Fnon-pathogenic113694046(+) CAAGAG/AGCCGA 2 /E syn11Minor allele frequency- A:0.01NA 4550
    rs3122628081,2
    Cpathogenic113669011(+) CTCAAA/C/GGTATC 3 K N syn1 mis10--------
    rs3122628451,2
    Cpathogenic113680500(+) AAAAA-/AGTATG 2 Y V fra10--------
    rs3122628611,2
    Cpathogenic113687031(+) TTCTCA/G/TGGTAT 2 -- spa10--------

    HapMap Linkage Disequilibrium report for OFD1 (13752832 - 13787480 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for OFD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528634CNV Gain19592680

    Human Gene Mutation Database (HGMD): OFD1
    Locus Specific Mutation Databases (LSDB): OFD1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing OFD1
    DNA2.0 Custom Variant and Variant Library Synthesis for OFD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300170   
    OMIM disorders: 311200  300209  300804  300424  
    UniProtKB/Swiss-Prot: OFD1_HUMAN, O75665
  • Orofaciodigital syndrome 1 (OFD1) [MIM:311200]: A form of orofaciodigital syndrome, a group of
    heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated
    phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome,
    lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft
    of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting,
    cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or
    syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of
    intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the
    corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic
    disease of the liver and pancreas, in addition to polycystic kidneys. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Simpson-Golabi-Behmel syndrome 2 (SGBS2) [MIM:300209]: A severe variant of Simpson-Golabi-Behmel
    syndrome, a condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a
    variety of inconstant visceral and skeletal malformations. Note=The disease may be caused by mutations affecting
    the gene represented in this entry
  • Joubert syndrome 10 (JBTS10) [MIM:300804]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 14 diseases for OFD1:    
    About MalaCards
    joubert syndrome 10    oral-facial-digital syndrome type i    ofd1-related joubert syndrome    simpson-golabi-behmel syndrome, type 2
    simpson-golabi-behmel syndrome    joubert syndrome 22    retinitis pigmentosa 23    aicardi syndrome
    orofaciodigital syndrome    ciliary dyskinesia, primary, 19    larsen syndrome    developmental disabilities
    joubert syndrome and related disorders    leber congenital amaurosis

    7 diseases from the University of Copenhagen DISEASES database for OFD1:
    Orofaciodigital syndrome     Nephronophthisis     Cystic kidney     Polycystic kidney disease
    Polydactyly     Larsen syndrome     Aicardi syndrome

    Find genes that share disorders with OFD1           About GenesLikeMe

    2 Novoseek inferred disease relationships for OFD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oral-facial-digital syndrome, type i 99 1 11179005 (1)
    developmental disabilities 65.2 3 10395802 (1), 16311594 (1), 19876934 (1)

    GeneTests: OFD1
    GeneReviews: OFD1
    Genetic Association Database (GAD): OFD1
    Human Genome Epidemiology (HuGE) Navigator: OFD1 (3 documents)

    Export disorders for OFD1 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 OFD1 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with OFD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. (PubMed id 9722947)1, 2, 3, 9 de Conciliis L.... Banfi S. (Genomics 1998)
    2. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. (PubMed id 17761535)1, 2, 9 Giorgio G....Franco B. (Mol. Biol. Cell 2007)
    3. Identification of the gene for oral-facial-digital type I syndrome. (PubMed id 11179005)1, 2, 9 Ferrante M.I.... Franco B. (Am. J. Hum. Genet. 2001)
    4. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. (PubMed id 11950863)1, 2, 9 Rakkolainen A.... Jaervelae I. (J. Med. Genet. 2002)
    5. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. (PubMed id 16783569)1, 2, 9 Budny B.... Ropers H.-H. (Hum. Genet. 2006)
    6. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: A study of the extensive clinical variability. (PubMed id 23033313)1, 2 Bisschoff I.J....Morris-Rosendahl D.J. (Hum. Mutat. 2013)
    7. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). (PubMed id 22619378)1, 3 Webb T.R....Hardcastle A.J. (Hum. Mol. Genet. 2012)
    8. Ofd1, a human disease gene, regulates the length and distal structure of centrioles. (PubMed id 20230748)1, 2 Singla V.... Reiter J.F. (Dev. Cell 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5- encoded lebercilin. (PubMed id 19800048)1, 2 Coene K.L.... de Brouwer A.P. (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8481 HGNC: 2567 AceView: OFD1 Ensembl:ENSG00000046651 euGenes: HUgn8481
    ECgene: OFD1 H-InvDB: OFD1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for OFD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OFD1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for OFD1 gene:
    Search GeneIP for patents involving OFD1

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



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