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CHD5 Gene

protein-coding   GIFtS: 56
GCID: GC01M006161

Chromodomain Helicase DNA Binding Protein 5

  See CHD5-related disease
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
Chromodomain Helicase DNA Binding Protein 51 2     EC 3.6.4.123
CHD-52 3     KIAA04443
ATP-Dependent Helicase CHD52 3     EC 3.6.18
Chromodomain-Helicase-DNA-Binding Protein 52     

External Ids:    HGNC: 168161   Entrez Gene: 260382   Ensembl: ENSG000001162547   OMIM: 6107715   UniProtKB: Q8TDI03   

Export aliases for CHD5 gene to outside databases

Previous GC identifers: GC01M005970 GC01M005758 GC01M005871 GC01M006096 GC03U900582 GC01M005310


(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 CHD5 Gene:
This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are
characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene
encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is
a potential tumor suppressor gene that may play a role in the development of neuroblastoma. (provided by RefSeq,
Feb 2012)

GeneCards Summary for CHD5 Gene:
CHD5 (chromodomain helicase DNA binding protein 5) is a protein-coding gene. Diseases associated with CHD5 include neuroblastoma. GO annotations related to this gene include ATP-dependent helicase activity. An important paralog of this gene is CHD6.

UniProtKB/Swiss-Prot: CHD5_HUMAN, Q8TDI0
Function: May play a role in the development of the nervous system and the pathogenesis of neural tumors

Gene Wiki entry for CHD5 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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHD5 gene promoter:
         GATA-3   Nkx2-2   Egr-1   Brachyury   NRSF form 1   NRSF form 2   Egr-4   FOXL1   AREB6   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHD5 promoter sequence
   Search Chromatin IP Primers for CHD5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHD5


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

Entrez Gene cytogenetic band: 1p36.31   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36.3

CHD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHD5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M006161:  view genomic region     (about GC identifiers)

Start:
6,161,847 bp from pter      End:
6,240,194 bp from pter
Size:
78,348 bases      Orientation:
minus 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: CHD5_HUMAN, Q8TDI0 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 5  
Size: 1954 amino acids; 223050 Da
Secondary accessions: O75032 Q5TG89 Q7LGH2 Q9UFR9

Explore the universe of human proteins at neXtProt for CHD5: NX_Q8TDI0

Explore proteomics data for CHD5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CHD5 (Q8TDI0) (see all 22)
     DEAHRLK  TGTPLQN  NQSKFFR  FLLSTRA 


    See CHD5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056372.1  
    ENSEMBL proteins: 
     ENSP00000262450   ENSP00000466440   ENSP00000466706   ENSP00000367238   ENSP00000433676  
     ENSP00000468624   ENSP00000367260  

    CHD5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CHD5
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHD5

     
    Search eBioscience for Proteins for CHD5 

     
    Search antibodies-online for proteins for CHD5 

     
    antibodies-online peptides for CHD5

    CHD5 Antibody Products:

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    antibodies-online antibodies for CHD5 (6 products) 

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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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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 19):
     IPR009463 DUF1087
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR000953 Chromo_domain/shadow
     IPR000330 SNF2_N

    Graphical View of Domain Structure for InterPro Entry Q8TDI0

    ProtoNet protein and cluster: Q8TDI0

    Selected Blocks protein domains (see all 7):
    IPB000330 SNF2 related domain
    IPB000953 Chromo domain
    IPB001841 Zn-finger
    IPB001965 Zn-finger-like
    IPB002464 ATP-dependent helicase


    UniProtKB/Swiss-Prot: CHD5_HUMAN, Q8TDI0
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 2 chromo domains
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain
    Similarity: Contains 2 PHD-type zinc fingers


    Find genes that share domains with CHD5           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: CHD5_HUMAN, Q8TDI0
    Function: May play a role in the development of the nervous system and the pathogenesis of neural tumors
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004386helicase activity ----
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with CHD5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CHD5:
     Decreased Wnt reporter activit 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CHD5

    miRNA
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    miRTarBase miRNAs that target CHD5:
    hsa-mir-615-3p (MIRT040349), hsa-mir-744-5p (MIRT037503)

    Block miRNA regulation of human, mouse, rat CHD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHD5 (see all 81):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-15a hsa-miR-106a hsa-miR-219-5p hsa-miR-30d hsa-miR-519a hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCHD5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHD5

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    GenScript: all cDNA clones in your preferred vector: CHD5 (NM_015557)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHD5

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    Browse ESI BIO Cell Lines and PureStem Progenitors for CHD5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD5


    (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
    CHD5_HUMAN, Q8TDI0: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with CHD5           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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        Pathway & Disease-focused RT2 Profiler PCR Array including CHD5: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHD5

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

    Selected Interacting proteins for CHD5 (Q8TDI03 ENSP000002624504) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    HDAC2Q927693, ENSP000003813314I2D: score=1 STRING: ENSP00000381331
    DVL2O146413I2D: score=4 
    SSU72Q9NP773I2D: score=4 
    EZH2Q159103I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0016568chromatin modification IEA--

    Find genes that share ontologies with CHD5           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 CHD5



    (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 CHD5 gene: 
    NM_015557.2  

    Unigene Cluster for CHD5:

    Chromodomain helicase DNA binding protein 5
    Hs.522898  [show with all ESTs]
    Unigene Representative Sequence: NM_015557
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262450(uc001amb.2) ENST00000475121 ENST00000462991 ENST00000377999
    ENST00000496404 ENST00000491020 ENST00000378021(uc001alz.2 uc001ama.2 uc001amc.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat CHD5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CHD5 (see all 81):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-15a hsa-miR-106a hsa-miR-219-5p hsa-miR-30d hsa-miR-519a hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidCHD5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHD5
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHD5 (NM_015557)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHD5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHD5
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CHD5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CHD5
      QuantiTect SYBR Green Assays in human, mouse, rat CHD5
      QuantiFast Probe-based Assays in human, mouse, rat CHD5

    Additional mRNA sequence: 

    AB007913.1 AF425231.1 AK091386.1 AK126012.1 AL117491.1 AL137693.1 BC048142.1 

    8 DOTS entries:

    DT.121366469  DT.100748795  DT.448559  DT.101980704  DT.100677293  DT.40306474  DT.100748794  DT.99931944 

    Selected AceView cDNA sequences (see all 1193):

    BG389544 CB151704 BM553155 BM837968 BE908815 BE858636 BM818267 AI523097 
    Z39546 AA632058 BE350022 AI394275 NM_015557 T31757 AI690543 AW275903 
    BQ050244 BM710282 BM687940 BM699805 BM974648 AI337839 AF425231 BI223750 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CHD5    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^
    SP1:                                                              -                                                                             -               
    SP2:                                                              -                                                                             -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b
    SP1:        -                                                                                                                                 
    SP2:        -                                   -                                                                                             
    SP3:        -                                                                                                           -                     
    SP4:                                                                                                                                          
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for CHD5

    (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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    CHD5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGCCAGAA
    CHD5 Expression
    About this image


    CHD5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Medulla Oblongata
             brain/forebrain/diencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Telencephalon
             brain/midbrain/lateral wall   
     
     Testis (Reproductive System)
    CHD5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHD5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522898

    UniProtKB/Swiss-Prot: CHD5_HUMAN, Q8TDI0
    Tissue specificity: Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately
    expressed in the adrenal gland

        Pathway & Disease-focused RT2 Profiler PCR Array including CHD5: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD5

    (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 eukaryotes.

    Orthologs for CHD5 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chd51 , 5 chromodomain helicase DNA binding protein 51, 5 88.18(n)1
    94.36(a)1
      4 (83.04 cM)5
    2696101  NM_001081376.11  NP_001074845.11 
     1523388875 
    chicken
    (Gallus gallus)
    Aves CHD51 chromodomain helicase DNA binding protein 5 81.18(n)
    88.79(a)
      100857108  XM_003642519.2  XP_003642567.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHD56
    chromodomain helicase DNA binding protein 5
    83(a)
    1 ↔ 1
    GL343833.1(8752-33883)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chd51 chromodomain helicase DNA binding protein 5 72.34(n)
    84.97(a)
      100487004  XM_002937545.2  XP_002937591.2 
    zebrafish
    (Danio rerio)
    Actinopterygii chd51 chromodomain helicase DNA binding protein 5 73.22(n)
    81.51(a)
      553422  XM_003199497.2  XP_003199545.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mi-21 Mi-2 65.2(n)
    64.01(a)
      40170  NM_001014591.3  NP_001014591.1 
    worm
    (Caenorhabditis elegans)
    Secernentea chd-36
    let-4186
    Protein LET-418 (let-418) mRNA, complete cds
    51(a)
    49(a)
    many ↔ many
    many ↔ many
    X(12846430-12852601) WBGene00000482
    V(5826833-5832861) WBGene00002637
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHD16
    Chromatin remodeler that regulates various aspects...
    25(a)
    1 → many
    V(505392-509798) YER164W
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.43322 Vitis vinifera transcribed sequence with weak similarity more 73.08(n)    CB344768.2 


    ENSEMBL Gene Tree for CHD5 (if available)
    TreeFam Gene Tree for CHD5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHD5 gene
    CHD62  CHD92  CHD42  CHD12  CHD72  CHD82  CHD32  CHD22  
    18 SIMAP similar genes for CHD5 using alignment to 7 protein entries:     CHD5_HUMAN (see all proteins):
    DKFZp434K213    DKFZp434P202    SMARCA4    CHD2    CHD4    ZNF212
    CHD3    AIRE    NF2    CHD8    SHPRH    SP110
    CHD9    SMARCA5    CHD1L    HELLS    SMARCA1    DNMT1

    Find genes that share paralogs with CHD5           About GenesLikeMe



    (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 CHD5 (see all 2279)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354774
    A breast cancer sample4--see VAR_0354772 R G mis40--------
    VAR_0354754
    A breast cancer sample4--see VAR_0354752 V M mis40--------
    VAR_0354764
    A breast cancer sample4--see VAR_0354762 D N mis40--------
    rs1384657201,2
    C--5390502(+) AGCGAG/TTCCCC 1 -- int10--------
    rs784613381,2
    F--6161839(+) AAAAAG/ACCTCT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs10642871,2
    C--6161939(-) GGACAG/AAGGCT 1 -- ut313Minor allele frequency- A:0.00MN NA 188
    rs127583411,2
    C--6161959(+) TGGGCG/AAAGAC 1 -- ut31 ese33Minor allele frequency- A:0.26NA EA 242
    rs1903579071,2
    --6161969(+) CCAGAC/TAAGCC 1 -- ut310--------
    rs66964891,2
    C,H--6162054(+) GCGCCC/TTGCAC 1 -- ut3110Minor allele frequency- T:0.23NA WA CSA EA 373
    rs782407701,2
    C,F--6162110(+) AAAGGG/AGTCGG 1 -- ut312Minor allele frequency- A:0.02CSA WA 120

    HapMap Linkage Disequilibrium report for CHD5 (6161847 - 6240194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHD5 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739473CNV Deletion23290073
    esv2676924CNV Deletion23128226
    esv2739361CNV Deletion23290073
    esv2739584CNV Deletion23290073
    esv2739250CNV Deletion23290073
    esv2739139CNV Deletion23290073
    nsv871698CNV Loss21882294
    dgv117n71CNV Loss21882294
    nsv871226CNV Loss21882294
    nsv470689CNV Loss18288195

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing CHD5:
    Glioma
    SeqTarget long-range PCR primers for resequencing CHD5
    DNA2.0 Custom Variant and Variant Library Synthesis for CHD5

    (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: 610771    OMIM disorders: --

    1 disease for CHD5:    
    About MalaCards
    neuroblastoma


    Find genes that share disorders with CHD5           About GenesLikeMe

    Genetic Association Database (GAD): CHD5
    Human Genome Epidemiology (HuGE) Navigator: CHD5 (4 documents)

    Export disorders for CHD5 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 CHD5 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with CHD5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system. (PubMed id 12592387)1, 2, 3 Thompson P.M.... Brodeur G.M. (Oncogene 2003)
    2. Mutation and methylation analysis of the chromodomain-helicase-DNA binding 5 gene in ovarian cancer. (PubMed id 18953434)1, 4 Gorringe K.L....Campbell I.G. (Neoplasia 2008)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (DNA Res. 1997)
    5. CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas. (PubMed id 18577749)1, 9 Fujita T....Brodeur G.M. (J. Natl. Cancer Inst. 2008)
    6. Chromatin remodeling factor CHD5 is silenced by promoter CpG island hypermethylation in human cancer. (PubMed id 18698156)1, 9 Mulero-Navarro S. and Esteller M. (Epigenetics 2008)
    7. CHD5 is down-regulated through promoter hypermethylation in gastric cancer. (PubMed id 19840376)1, 9 Wang X....Lam Y.W. (J. Biomed. Sci. 2009)
    8. The quest for the 1p36 tumor suppressor. (PubMed id 18413720)1, 9 Bagchi A. and Mills A.A. (Cancer Res. 2008)
    9. Epigenetic silencing of CHD5, a novel tumor-suppressor gene, occurs in early colorectal cancer stages. (PubMed id 24243398)1 Fatemi M....Ashktorab H. (Cancer 2014)
    10. Downregulation of chromatin remodeling factor CHD5 is associated with a poor prognosis in human glioma. (PubMed id 23707602)1 Wang L....Zhang Y. (J Clin Neurosci 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: 26038 HGNC: 16816 AceView: RPL22andCHD5 Ensembl:ENSG00000116254 euGenes: HUgn26038
    ECgene: CHD5 H-InvDB: CHD5

    (According to HUGE)
    About This Section

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    HUGE: KIAA0444

    (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 CHD5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHD5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHD5 gene:
    Search GeneIP for patents involving CHD5

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



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