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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CELF4 Gene

protein-coding   GIFtS: 55
GCID: GC18M034823

CUGBP, Elav-Like Family Member 4

(Previous names: Bruno (Drosophila) -like 4, RNA binding protein, bruno-like...)
(Previous symbol: BRUNOL4)
  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
CUGBP, Elav-Like Family Member 41 2     BRUNOL-42
BRUNOL41 2 3 5     Bruno -Like 4, RNA Binding Protein2
Bruno-Like Protein 42 3     Bruno-Like 4, RNA Binding Protein2
CELF-42 3     CUG-BP And ETR-3 Like Factor 42
CUG-BP- And ETR-3-Like Factor 42 3     CUGBP Elav-Like Family Member 42
RNA-Binding Protein BRUNOL-42 3     LYST-Interacting Protein LIP92
Bruno (Drosophila) -Like 4, RNA Binding Protein1     RNA-Binding Protein BRUNOL42
Bruno-Like 4, RNA Binding Protein (Drosophila)1     

External Ids:    HGNC: 140151   Entrez Gene: 568532   Ensembl: ENSG000001014897   OMIM: 6126795   UniProtKB: Q9BZC13   

Export aliases for CELF4 gene to outside databases

Previous GC identifer: GC18M031681


(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 CELF4 Gene:
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one
C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of
this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and
translation. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for CELF4 Gene: 
CELF4 (CUGBP, Elav-like family member 4) is a protein-coding gene. Diseases associated with CELF4 include seizure disorder, and frontotemporal dementia, and among its related super-pathways are Processing of Capped Intron-Containing Pre-mRNA. GO annotations related to this gene include nucleotide binding and translation repressor activity, nucleic acid binding. An important paralog of this gene is CELF1.

UniProtKB/Swiss-Prot: CELF4_HUMAN, Q9BZC1
Function: RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon
inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated
alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart
remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle
(NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing
enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA

Gene Wiki entry for CELF4 (BRUNOL4) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CELF4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCELF4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CELF4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CELF4


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

Entrez Gene cytogenetic band: 18q12   Ensembl cytogenetic band:  18q12.2   HGNC cytogenetic band: 18q12

CELF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELF4 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M034823:  view genomic region     (about GC identifiers)

Start:
34,823,003 bp from pter      End:
35,146,000 bp from pter
Size:
322,998 bases      Orientation:
minus 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: CELF4_HUMAN, Q9BZC1 (See protein sequence)
Recommended Name: CUGBP Elav-like family member 4  
Size: 486 amino acids; 51966 Da
Subcellular location: Nucleus. Cytoplasm
Sequence caution: Sequence=BAD93011.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for CELF4:
2DGP (3D)        2DNK (3D)    
Secondary accessions: Q59EN7 Q86XB9 Q8N2M6 Q9BQ96 Q9NR84 Q9NR85
Alternative splicing: 5 isoforms:  Q9BZC1-1   Q9BZC1-2   Q9BZC1-3   Q9BZC1-4   Q9BZC1-5   

Explore the universe of human proteins at neXtProt for CELF4: NX_Q9BZC1

Explore proteomics data for CELF4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZC1

  • CELF4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CELF4 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001020258.1  NP_001020259.1  NP_001020260.1  NP_064565.1  

    ENSEMBL proteins: 
     ENSP00000465348   ENSP00000468256   ENSP00000335631   ENSP00000464917   ENSP00000468428  
     ENSP00000469627   ENSP00000355089   ENSP00000474788   ENSP00000471616   ENSP00000464794  
     ENSP00000464996   ENSP00000465125   ENSP00000468109   ENSP00000467056   ENSP00000470649  
     ENSP00000467732   ENSP00000465211   ENSP00000467571   ENSP00000410584   ENSP00000406823  

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    Novus Biologicals CELF4 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    CELF4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q9BZC1

    ProtoNet protein and cluster: Q9BZC1

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: CELF4_HUMAN, Q9BZC1
    Similarity: Belongs to the CELF/BRUNOL family
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    CELF4 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: CELF4_HUMAN, Q9BZC1
    Function: RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon
    inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated
    alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart
    remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle
    (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing
    enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0000900translation repressor activity, nucleic acid binding NAS10893231
    GO:0003676nucleic acid binding ----
    GO:0003729mRNA binding IEA--
    GO:0042835BRE binding ISS--
         
    CELF4 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Celf4):
     behavior/neurological  growth/size  mortality/aging  nervous system 

    CELF4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Celf4tm1.2Frk for CELF4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CELF4 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCELF4 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELF4


    (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 CELF4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA processing0.46


    1 BioSystems Pathway for CELF4
        mRNA processing


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CELF4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CELF4 (Q9BZC13 ENSP000003550894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LYSTQ996983, ENSP000003744434I2D: score=1 STRING: ENSP00000374443
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000380alternative mRNA splicing, via spliceosome IDA19720736
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IDA11158314
    GO:0006376mRNA splice site selection IEA--
    GO:0007281germ cell development NAS10893231
    GO:0009790embryo development NAS10893231

    CELF4 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

    CELF4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CELF4

    1 PharmGKB related drug/compound annotation for CELF4 gene    About this table
    Drug/compound PharmGKB Annotation
    iloperidoneCA  

    Search CenterWatch for drugs/clinical trials and news about CELF4

    (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 CELF4 gene (4 alternative transcripts): 
    NM_001025087.1  NM_001025088.1  NM_001025089.1  NM_020180.3  

    Unigene Cluster for CELF4:

    CUGBP, Elav-like family member 4
    Hs.435976  [show with all ESTs]
    Unigene Representative Sequence: NM_020180
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000586009 ENST00000588591 ENST00000334919(uc002lag.2 uc002lah.2 uc002laj.1)
    ENST00000591287 ENST00000590112 ENST00000590011 ENST00000601019 ENST00000361795(uc002lae.2 uc002laf.2 uc002lai.2)
    ENST00000603232 ENST00000587911 ENST00000591282 ENST00000593271 ENST00000589386
    ENST00000588597 ENST00000587657 ENST00000591421 ENST00000587074 ENST00000601392

    miRNA
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    hsa-miR-124* hsa-miR-607 hsa-miR-376b hsa-miR-624 hsa-miR-374a hsa-miR-30d hsa-miR-218 hsa-miR-3162-5p
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB209774.1 AF141345.1 AF248650.1 AF248651.1 AF329265.1 AK074596.1 AK091694.1 AK295009.1 
    BC001946.1 BC004167.2 BC045711.1 BC127795.1 

    13 DOTS entries:

    DT.209432  DT.92428652  DT.101963905  DT.91850793  DT.95084086  DT.95371131  DT.121090917  DT.92428653 
    DT.100754704  DT.121090927  DT.95371133  DT.97800053  DT.40221674 

    24/145 AceView cDNA sequences (see all 145):

    BE348611 BF110203 AI982767 AA669357 AW770545 AA707857 BF592968 AF329265 
    BP361777 BQ416864 AA324384 CA950351 AF248651 AW339239 BE673884 AW470537 
    BX118932 CK299255 AA911424 AW245095 BQ417171 BM929983 AW247824 BF196119 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CELF4 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for CELF4

    (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

    CELF4 expression in normal human tissues (normalized intensities)      CELF4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGTTCTTG
    CELF4 Expression
    About this image


    CELF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             ganglion/cranial/vagus X   
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Retina

    See CELF4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CELF4

    SOURCE GeneReport for Unigene cluster: Hs.435976

    UniProtKB/Swiss-Prot: CELF4_HUMAN, Q9BZC1
    Tissue specificity: Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal
    cortex and frontal lobes

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CELF4

    (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 animals.

    Orthologs for CELF4 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Celf41 , 5 CUGBP, Elav-like family member 41, 5 95.52(n)1
    99.59(a)1
      18 (13.92 cM)5
    1080131  NM_001146292.11  NP_001139764.11 
     254776325 
    chicken
    (Gallus gallus)
    Aves CELF41 CUGBP, Elav-like family member 4 84.53(n)
    97.25(a)
      426889  XM_001231285.2  XP_001231286.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    CELF46
    (see all 3)
    Uncharacterized protein
    (see all 3)
    90(a)
    88(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    GL343607.1(349239-367943)
    GL343372.1(13163-94597)
    zebrafish
    (Danio rerio)
    Actinopterygii celf41 CUGBP, Elav-like family member 4 80.92(n)
    90.13(a)
      436835  NM_001002562.1  NP_001002562.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta bru-31 bruno-3 65.48(n)
    66.37(a)
      39527  NM_001202166.2  NP_001189095.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-751 Protein UNC-75 55.73(n)
    55.21(a)
      182722  NM_060557.3  NP_492958.3 


    ENSEMBL Gene Tree for CELF4 (if available)
    TreeFam Gene Tree for CELF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CELF4 gene
    CELF12  CELF22  CELF32  CELF62  CELF52  
    15 SIMAP similar genes for CELF4 using alignment to 12 protein entries:     CELF4_HUMAN (see all proteins):
    BRUNOL4    TNRC4    CELF5    CELF6    CELF3    RBMS1
    RBM47    ELAVL2    CELF2    CELF1    BOLL    RBMY1A1
    MSI2    RBMX    HNRNPD

    CELF4 for paralogs           About GeneDecksing



    (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

    10/6133 SNPs in CELF4 are shown (see all 6133)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1872026591,2
    C--34822532(+) GCAGCA/GGGAGG 4 -- ds50010--------
    rs1916877461,2
    C--34822620(+) CCCTCA/C/TACTGC 4 -- ds50010--------
    rs358073081,2
    C--34822653(+) AACTT-/CCCCCCC 4 -- ds50012Minor allele frequency- CC:0.00NA CSA 4
    rs17860711,2
    C,F--34822770(-) CCCCAC/TTGCAA 4 -- ds50018Minor allele frequency- T:0.38WA NA CSA EA 367
    rs1117505961,2
    C,F--34822816(+) TCCTAG/AAGTGG 4 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1397248911,2
    --34822836(+) TCCTTC/TTATTG 4 -- ds50010--------
    rs1497769211,2
    --34822886(+) CAGAAC/TGAGGG 4 -- ds50010--------
    rs1148662781,2
    F--34822943(+) GCAAGC/ACTTGG 4 -- ds50011Minor allele frequency- A:0.01WA 118
    rs17860701,2
    C,F,H--34823002(-) AAAAAT/GATTTC 4 -- ds500120Minor allele frequency- G:0.39NS EA WA NA CSA 2346
    rs1456904051,2
    --34823046(+) AAAGCA/GTCATC 4 -- ut310--------

    HapMap Linkage Disequilibrium report for CELF4 (34823003 - 35073003 bp, first 250kb of CELF4)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for CELF4 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716971CNV Deletion23290073
    esv2716970CNV Deletion23290073
    esv2716969CNV Deletion23290073
    esv2716972CNV Deletion23290073
    esv4383CNV Deletion18987735
    esv2716966CNV Deletion23290073
    esv2716967CNV Deletion23290073
    esv2716968CNV Deletion23290073
    esv2562764CNV Insertion19546169
    nsv509689CNV Insertion20534489


    Human Gene Mutation Database (HGMD): CELF4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CELF4
    DNA2.0 Custom Variant and Variant Library Synthesis for CELF4

    (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: 612679    OMIM disorders: --

    6 diseases for CELF4:    About MalaCards
    seizure disorder    frontotemporal dementia    myotonic dystrophy    dementia
    schizophrenia    retinitis


    CELF4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CELF4
    Human Genome Epidemiology (HuGE) Navigator: CELF4 (3 documents)

    Export disorders for CELF4 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 CELF4 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with CELF4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PubMed id 10893231)1, 2, 3 Good P.J.... Herring D.C. (2000)
    2. ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. (PubMed id 14973222)1, 2, 9 Singh G.... Cooper T.A. (2004)
    3. Identification of CELF splicing activation and repression domains in vivo. (PubMed id 15894795)1, 2, 9 Han J. and Cooper T.A. (2005)
    4. The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. (PubMed id 11158314)1, 2, 9 Ladd A.N.... Cooper T.A. (2001)
    5. A genome-wide association study identifies a novel lo cus on chromosome 18q12.2 influencing white cell telomere length. (PubMed id 19359265)1, 4 Mangino M....Spector T.D. (2009)
    6. Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia. (PubMed id 18521091)1, 4 Volpi S....Lavedan C. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. (PubMed id 15009664)1, 2 Wang J....Andreadis A. (2004)
    9. Prognostic relevance of DNA copy number changes in co lorectal cancer. (PubMed id 19911421)1, 9 Poulogiannis G....Arends M.J. (2010)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (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: 56853 HGNC: 14015 AceView: BRUNOL4 Ensembl:ENSG00000101489 euGenes: HUgn56853
    ECgene: CELF4 H-InvDB: CELF4

    (According to HUGE)
    About This Section
      --

    (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 CELF4 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 CELF4 gene:
    Search GeneIP for patents involving CELF4

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



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    About This Section

     
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