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

CHD7 Gene

protein-coding   GIFtS: 62
GCID: GC08P061642

Chromodomain Helicase DNA Binding Protein 7

  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
Chromodomain Helicase DNA Binding Protein 71 2     Chromodomain-Helicase-DNA-Binding Protein 72
ATP-Dependent Helicase CHD72 3     CHD-73
IS32 5     EC 3.6.4.123
KAL52 5     KIAA14163
HH52     EC 3.6.18
Chromodomain Helicase DNA Binding Protein 7 Isoform CRA_e2     

External Ids:    HGNC: 206261   Entrez Gene: 556362   Ensembl: ENSG000001713167   OMIM: 6088925   UniProtKB: Q9P2D13   

Export aliases for CHD7 gene to outside databases

Previous GC identifers: GC00U900988 GC08P061753 GC08P057078


(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 CHD7 Gene:
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found
in some patients with the CHARGE syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for CHD7 Gene: 
CHD7 (chromodomain helicase DNA binding protein 7) is a protein-coding gene. Diseases associated with CHD7 include charge syndrome, and kallmann syndrome 5. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD6.

UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
Function: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production

Gene Wiki entry for CHD7 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_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHD7 gene promoter:
         HFH-3   Nkx3-1   AhR   Nkx2-5   Arnt   AREB6   FOXI1   STAT3   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHD7 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHD7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHD7


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

Entrez Gene cytogenetic band: 8q12.2   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q12.2

CHD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHD7 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P061642:  view genomic region     (about GC identifiers)

Start:
61,591,324 bp from pter      End:
61,780,587 bp from pter
Size:
189,264 bases      Orientation:
plus 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: CHD7_HUMAN, Q9P2D1 (See protein sequence)
Recommended Name: Chromodomain-helicase-DNA-binding protein 7  
Size: 2997 amino acids; 335927 Da
Subunit: May interact with CTCF. Interacts with CHD8
Subcellular location: Isoform 1: Nucleus
Subcellular location: Isoform 3: Nucleus, nucleolus
Sequence caution: Sequence=AAH14681.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence; Sequence=AAH53890.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH68000.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAH80627.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential
poly-A sequence; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence;
Sequence=BAA91113.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91116.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for CHD7:
2CKC (3D)        2V0E (3D)        2V0F (3D)    
Secondary accessions: D0VBA5 E9PNZ2 Q05DI5 Q2TAN4 Q66K35 Q7Z6C0 Q7Z7Q2 Q9NXA0 Q9NXA3
Alternative splicing: 4 isoforms:  Q9P2D1-1   Q9P2D1-2   Q9P2D1-3   Q9P2D1-4   (Ubiquitous, expression enriched in lung and large intestine)

Explore the universe of human proteins at neXtProt for CHD7: NX_Q9P2D1

Explore proteomics data for CHD7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P2D1

  • 4/51 DME Specific Peptides for CHD7 (Q9P2D1) (see all 51)
     GIHGPFL  GAEEKIL  DSDWNPQ  KASFVAS 

    CHD7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHD7 Protein Expression
    REFSEQ proteins: NP_060250.2  
    ENSEMBL proteins: 
     ENSP00000392028   ENSP00000436492   ENSP00000437061   ENSP00000436027   ENSP00000432627  
     ENSP00000433336  

    Human Recombinant Protein Products for CHD7: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHD7 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS17299439
    GO:0005730nucleolus IEA--

    CHD7 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for CHD7 

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    Cloud-Clone Corp. ELISAs for CHD7 
    Cloud-Clone Corp. CLIAs for CHD7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR000953 Chromo_domain/shadow
     IPR000330 SNF2_N
     IPR001005 SANT/Myb
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9P2D1

    ProtoNet protein and cluster: Q9P2D1

    4 Blocks protein domains:
    IPB000330 SNF2 related domain
    IPB000953 Chromo domain
    IPB002464 ATP-dependent helicase
    IPB006576 Domain in transcription and CHROMO domain helicase


    UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
    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


    CHD7 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: CHD7_HUMAN, Q9P2D1
    Function: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding TAS17299439
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI--
         
    CHD7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHD7:
     Synthetic lethal with Ras 

         15/20 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Chd7) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 

    CHD7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chd7tm1.2Dmm for CHD7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHD7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHD7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHD7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHD7 

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    hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-15a hsa-miR-938 hsa-miR-485-3p hsa-miR-219-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCHD7 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7


    (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 CHD7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Noncanonical Wnt signaling pathway
    Noncanonical Wnt signaling pathway
    2Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for CHD7
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for CHD7
        Noncanonical Wnt signaling pathway



    CHD7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHD7

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

    5/612 Interacting proteins for CHD7 (Q9P2D11, 2, 3 ENSP000003920284) via UniProtKB, MINT, STRING, and/or I2D (see all 612)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PBRM1Q86U862, 3, ENSP000003492134MINT-7945693 I2D: score=1 STRING: ENSP00000349213
    SMARCE1Q969G32, 3, ENSP000003239674MINT-7945693 I2D: score=1 STRING: ENSP00000323967
    SMARCC2Q8TAQ22, 3, ENSP000002670644MINT-7945693 I2D: score=1 STRING: ENSP00000267064
    SMARCC1Q929222, 3, ENSP000002544804MINT-7945693 I2D: score=1 STRING: ENSP00000254480
    ARID2Q68CP93, ENSP000003350444I2D: score=1 STRING: ENSP00000335044
    About this table

    Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP16155193
    GO:0001568blood vessel development ----
    GO:0001701in utero embryonic development IMP15300250
    GO:0003007heart morphogenesis IMP15300250
    GO:0006351transcription, DNA-dependent IEA--

    CHD7 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHD7

    Search CenterWatch for drugs/clinical trials and news about CHD7

    (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 CHD7 gene: 
    NM_017780.3  

    Unigene Clusters for CHD7:

    Chromodomain helicase DNA binding protein 7
    Hs.20395  [show with all ESTs], Hs.733236  [show with all ESTs]
    Unigene Representative Sequences: NM_017780, BC110818
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423902(uc003xue.3) ENST00000526846 ENST00000524602 ENST00000525508(uc003xuf.3)
    ENST00000527825 ENST00000527900 ENST00000527921 ENST00000529472 ENST00000531695
    ENST00000532149 ENST00000528280
    miRNA
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    8/117 QIAGEN miScript miRNA Assays for microRNAs that regulate CHD7 (see all 117):
    hsa-miR-548j hsa-miR-3607-3p hsa-miR-4272 hsa-miR-15a hsa-miR-938 hsa-miR-485-3p hsa-miR-219-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCHD7 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHD7

    Additional mRNA sequence: 

    BC014681.1 BC033116.1 BC041018.1 BC053890.1 BC068000.1 BC110818.1 

    11 DOTS entries:

    DT.101962994  DT.100783841  DT.111964  DT.86838611  DT.92426059  DT.121492349  DT.95079355  DT.95274296 
    DT.95318946  DT.97785259  DT.95307756 

    24/195 AceView cDNA sequences (see all 195):

    BU846100 AI565193 AA315015 CB116136 AA514234 BC033116 AL713438 AW296136 
    AL706890 AA953326 BC041018 BC014681 AW500424 BM023191 BX641423 AI269114 
    AW449676 BC053890 AW148832 CK904450 BM264071 AA366385 AA831292 AA918465 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CHD7    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                                              -                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35
    SP1:                                -                                             
    SP2:                                                                              
    SP3:                                -                                             
    SP4:                                                                              


    ECgene alternative splicing isoforms for CHD7

    (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

    CHD7 expression in normal human tissues (normalized intensities)      CHD7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCAAATG
    CHD7 Expression
    About this image


    CHD7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Cerebral Cortex
             cerebellum   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 5 entries
             hIPS1
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             T Helper Cells Thymus
             Umbilical cord blood-derived hematopoietic stem cells
             cd31+ cells   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus

    See CHD7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHD7

    SOURCE GeneReport for Unigene clusters: Hs.20395 Hs.733236

    UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
    Tissue specificity: Widely expressed in fetal and adult tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including CHD7: 
              T Helper Cell Differentiation in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHD7

    (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 CHD7 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chd71 , 5 chromodomain helicase DNA binding protein 71, 5 90.05(n)1
    95.28(a)1
      4 (3.68 cM)5
    3207901  NM_001081417.11  NP_001074886.11 
     86904065 
    chicken
    (Gallus gallus)
    Aves CHD71 chromodomain helicase DNA binding protein 7 85.42(n)
    92.77(a)
      421140  NM_001077586.1  NP_001071054.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHD76
    chromodomain helicase DNA binding protein 7
    90(a)
    1 ↔ 1
    4(28522776-28669341)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167302 Xenopus laevis transcribed sequence with weak similarity more 80.65(n)    CA791047.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570635172   -- 78.87(n)    57063517 
    fruit fly
    (Drosophila melanogaster)
    Insecta kis1 kismet 51.56(n)
    47.69(a)
      33185  NM_078717.3  NP_523441.1 
    worm
    (Caenorhabditis elegans)
    Secernentea chd-71 Protein CHD-7 45.7(n)
    36(a)
      172079  NM_059025.3  NP_491426.2 


    ENSEMBL Gene Tree for CHD7 (if available)
    TreeFam Gene Tree for CHD7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHD7 gene
    CHD62  CHD52  CHD92  CHD42  CHD12  CHD82  CHD32  CHD22  
    5 SIMAP similar genes for CHD7 using alignment to 5 protein entries:     CHD7_HUMAN (see all proteins):
    CHD8    CHD9    CHD6    HELLS    SMARCA1

    CHD7 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

    10/3790 SNPs in CHD7 are shown (see all 3790)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0332464
    CHARGE syndrome (CHARGES)4--see VAR_0332462 Q R mis40--------
    VAR_0210594
    CHARGE syndrome (CHARGES)4--see VAR_0210592 I V mis40--------
    VAR_0681454
    CHARGE syndrome (CHARGES)4--see VAR_0681452 I N mis40--------
    VAR_0681504
    CHARGE syndrome (CHARGES)4--see VAR_0681502 R G mis40--------
    VAR_0546264
    Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)4--see VAR_0546262 P L mis40--------
    VAR_0546274
    Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)4--see VAR_0546272 K E mis40--------
    VAR_0681374
    CHARGE syndrome (CHARGES)4--see VAR_0681372 G D mis40--------
    VAR_0683904
    CHARGE syndrome (CHARGES)4--see VAR_0683902 W R mis40--------
    VAR_0683934
    CHARGE syndrome (CHARGES)4--see VAR_0683932 C R mis40--------
    VAR_0683954
    CHARGE syndrome (CHARGES)4--see VAR_0683952 L P mis40--------

    HapMap Linkage Disequilibrium report for CHD7 (61591324 - 61780587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for CHD7 (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2462449CNV Deletion19546169
    esv1009733CNV Insertion20482838
    nsv397201CNV Insertion16902084
    nsv824657CNV Loss20364138
    nsv831335CNV Loss17160897
    nsv6219CNV Loss18451855
    nsv890946CNV Gain21882294
    nsv526196CNV Gain19592680
    nsv824659CNV Gain20364138
    nsv824658CNV Gain20364138


    Human Gene Mutation Database (HGMD): CHD7
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing CHD7:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing CHD7
    DNA2.0 Custom Variant and Variant Library Synthesis for CHD7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608892   
    OMIM disorders: 214800  608765  612370  146110  
    UniProtKB/Swiss-Prot: CHD7_HUMAN, Q9P2D1
  • CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a
    non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear,
    and retina. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients
    develop lateral curvature of the spine of at least 10 degrees. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry
  • Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/26 diseases for CHD7 (see all 26):    About MalaCards
    charge syndrome    kallmann syndrome 5    tinea favosa    scoliosis, idiopathic 3
    lichen nitidus    esophageal atresia/tracheoesophageal fistula    scoliosis    kallmann syndrome
    tracheoesophageal fistula    esophageal atresia    choanal atresia    hypogonadotropism
    coloboma    tooth agenesis    hypogonadism    renal agenesis
    klinefelter's syndrome    digeorge syndrome    congenital heart defect    patent ductus arteriosus

    6 diseases from the University of Copenhagen DISEASES database for CHD7:
    Choanal atresia     Coloboma     Klinefelter's syndrome     Hypogonadism
    Congenital heart defect     DiGeorge syndrome

    CHD7 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for CHD7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coloboma 93.8 7 17280632 (1), 19598179 (1), 20186814 (1), 19251738 (1)
    atresia 83.8 7 17280632 (1), 19598179 (1), 20186814 (1), 19251738 (1)
    heart defects congenital 81.4 8 17280632 (1), 19598179 (1), 20186814 (1), 19251738 (1) (see all 5)
    growth retardation 67.7 2 17280632 (1)
    hypoplasia 51.2 1 20186815 (1)
    dysplasia 38 1 20186815 (1)

    GeneTests: CHD7
    GeneReviews: CHD7
    Genetic Association Database (GAD): CHD7
    Human Genome Epidemiology (HuGE) Navigator: CHD7 (9 documents)

    Export disorders for CHD7 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 CHD7 gene, integrated from 9 sources (see all 100):
    (articles sorted by number of sources associating them with CHD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (PubMed id 17436250)1, 2, 4 Gao X.... Wise C. (2007)
    2. CHD7 gene and non-syndromic cleft lip and palate. (PubMed id 16763960)1, 2, 4 Felix T.M....Murray J.C. (2006)
    3. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PubMed id 15300250)1, 2, 3 Vissers L.E.L.M.... Geurts van Kessel A. (2004)
    4. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. (PubMed id 20186815)1, 4, 9 Zentner G.E....Scacheri P.C. (2010)
    5. Mutation update on the CHD7 gene involved in CHARGE syndrome. (PubMed id 22461308)1, 2 Janssen N.... Hoefsloot L.H. (2012)
    6. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. (PubMed id 21554267)1, 2 Pauli S.... Kohlhase J. (2012)
    7. Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L. (PubMed id 22646239)1, 2 Kita Y....Nakayama K.I. (2012)
    8. CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. (PubMed id 21931733)1, 2 Song M.H.... Kim U.K. (2011)
    9. Mutations in the CHD7 gene: the experience of a commercial laboratory. (PubMed id 21158681)1, 2 Bartels C.F.... Bale S. (2010)
    10. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55636 HGNC: 20626 AceView: CHD7 Ensembl:ENSG00000171316 euGenes: HUgn55636
    ECgene: CHD7 H-InvDB: CHD7

    (According to HUGE)
    About This Section
    HUGE: KIAA1416

    (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 CHD7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHD7
    CHD7 databasehttp://www.chd7.org/molgenis.do

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHD7 gene:
    Search GeneIP for patents involving CHD7

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



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