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CHD7 (chromodomain helicase DNA binding protein 7)

Identity

Other namesHH5
IS3
KAL5
HGNC (Hugo) CHD7
LocusID (NCBI) 55636
Location 8q12.1
Location_base_pair Starts at 61591324 and ends at 61780586 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)CHD7   20626
Cards
Entrez_Gene (NCBI)CHD7  55636  chromodomain helicase DNA binding protein 7
GeneCards (Weizmann)CHD7
Ensembl (Hinxton)ENSG00000171316 [Gene_View]  chr8:61591324-61780586 [Contig_View]  CHD7 [Vega]
AceView (NCBI)CHD7
Genatlas (Paris)CHD7
WikiGenes55636
SOURCE (Princeton)NM_017780
Genomic and cartography
GoldenPath (UCSC)CHD7  -  8q12.1   chr8:61591324-61780586 +  8q12.1   [Description]    (hg19-Feb_2009)
EnsemblCHD7 - 8q12.1 [CytoView]
Mapping of homologs : NCBICHD7 [Mapview]
OMIM146110   214800   608765   608892   612370   
Gene and transcription
Genbank (Entrez)AB037837 AK000364 AK000368 AK123158 AK225354
RefSeq transcript (Entrez)NM_017780
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_007009 NT_008183 NW_001839132 NW_004929339
Consensus coding sequences : CCDS (NCBI)CHD7
Cluster EST : UnigeneHs.733236 [ NCBI ]
CGAP (NCI)Hs.733236
Alternative Splicing : Fast-db (Paris)GSHG0029038
Alternative Splicing GalleryENSG00000171316
Gene ExpressionCHD7 [ NCBI-GEO ]     CHD7 [ SEEK ]   CHD7 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2D1 (Uniprot)
NextProtQ9P2D1  [Medical]
With graphics : InterProQ9P2D1
Splice isoforms : SwissVarQ9P2D1 (Swissvar)
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CHROMO_1 (PS00598)    CHROMO_2 (PS50013)    DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)BRK_domain    Chromo_domain    Chromo_domain/shadow    Chromodomain-like    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SANT/Myb    SNF2_N   
Related proteins : CluSTrQ9P2D1
Domain families : Pfam (Sanger)BRK (PF07533)    Chromo (PF00385)    Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam07533    pfam00385    pfam00271    pfam00176   
Domain families : Smart (EMBL)BRK (SM00592)  CHROMO (SM00298)  DEXDc (SM00487)  HELICc (SM00490)  SANT (SM00717)  
DMDM Disease mutations55636
Blocks (Seattle)Q9P2D1
PDB (SRS)2CKC    2V0E    2V0F   
PDB (PDBSum)2CKC    2V0E    2V0F   
PDB (IMB)2CKC    2V0E    2V0F   
PDB (RSDB)2CKC    2V0E    2V0F   
Human Protein AtlasENSG00000171316
Peptide AtlasQ9P2D1
HPRD10595
IPIIPI00794880   IPI00472901   IPI00983150   IPI00954579   IPI00982953   IPI00982277   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2D1
IntAct (EBI)Q9P2D1
FunCoupENSG00000171316
BioGRIDCHD7
InParanoidQ9P2D1
Interologous Interaction database Q9P2D1
IntegromeDBCHD7
STRING (EMBL)CHD7
Ontologies - Pathways
Ontology : AmiGOskeletal system development  in utero embryonic development  heart morphogenesis  DNA binding  chromatin binding  helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-dependent  rRNA processing  central nervous system development  adult heart development  sensory perception of sound  adult walking behavior  blood circulation  chromatin modification  cranial nerve development  T cell differentiation  female genitalia development  embryonic hindlimb morphogenesis  positive regulation of multicellular organism growth  inner ear morphogenesis  nose development  semicircular canal morphogenesis  genitalia development  artery morphogenesis  cognition  palate development  retina development in camera-type eye  regulation of growth hormone secretion  limb development  face development  
Ontology : EGO-EBIskeletal system development  in utero embryonic development  heart morphogenesis  DNA binding  chromatin binding  helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-dependent  rRNA processing  central nervous system development  adult heart development  sensory perception of sound  adult walking behavior  blood circulation  chromatin modification  cranial nerve development  T cell differentiation  female genitalia development  embryonic hindlimb morphogenesis  positive regulation of multicellular organism growth  inner ear morphogenesis  nose development  semicircular canal morphogenesis  genitalia development  artery morphogenesis  cognition  palate development  retina development in camera-type eye  regulation of growth hormone secretion  limb development  face development  
REACTOMECHD7
Protein Interaction DatabaseCHD7
Wikipedia pathwaysCHD7
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CHD7
SNP (GeneSNP Utah)CHD7
SNP : HGBaseCHD7
Genetic variants : HAPMAPCHD7
1000_GenomesCHD7 
ICGC programENSG00000171316 
Somatic Mutations in Cancer : COSMICCHD7 
CONAN: Copy Number AnalysisCHD7 
Mutations and Diseases : HGMDCHD7
OMIM146110    214800    608765    608892    612370   
GENETestsCHD7
Disease Genetic AssociationCHD7
Huge Navigator CHD7 [HugePedia]  CHD7 [HugeCancerGEM]
Genomic VariantsCHD7  CHD7 [DGVbeta]
Exome VariantCHD7
dbVarCHD7
ClinVarCHD7
snp3D : Map Gene to Disease55636
General knowledge
Homologs : HomoloGeneCHD7
Homology/Alignments : Family Browser (UCSC)CHD7
Phylogenetic Trees/Animal Genes : TreeFamCHD7
Chemical/Protein Interactions : CTD55636
Chemical/Pharm GKB GenePA134948695
Clinical trialCHD7
Cancer Resource (Charite)ENSG00000171316
Other databases
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
CoreMineCHD7
iHOPCHD7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 16:47:00 CEST 2014

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