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CHD8 (chromodomain helicase DNA binding protein 8)

Identity

Alias_namesHELSNF1
helicase with SNF2 domain 1
Alias_symbol (synonym)KIAA1564
DUPLIN
Other aliasAUTS18
HGNC (Hugo) CHD8
LocusID (NCBI) 57680
Atlas_Id 51568
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 21853353 and ends at 21899867 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CHD8 (14q11.2) / CHD8 (14q11.2)CHD8 (14q11.2) / IMPG1 (6q14.1)CHD8 (14q11.2) / KIAA1211 (4q12)
CHD8 (14q11.2) / RAB2B (14q11.2)CHD8 (14q11.2) / TOX4 (14q11.2)NEAT1 (11q13.1) / CHD8 (14q11.2)
CHD8 14q11.2 / IMPG1 6q14.1CHD8 14q11.2 / KIAA1211 4q12CHD8 14q11.2 / RAB2B 14q11.2
CHD8 14q11.2 / TOX4 14q11.2

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CHD8   20153
Cards
Entrez_Gene (NCBI)CHD8  57680  chromodomain helicase DNA binding protein 8
AliasesAUTS18; HELSNF1
GeneCards (Weizmann)CHD8
Ensembl hg19 (Hinxton)ENSG00000100888 [Gene_View]  chr14:21853353-21899867 [Contig_View]  CHD8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100888 [Gene_View]  chr14:21853353-21899867 [Contig_View]  CHD8 [Vega]
ICGC DataPortalENSG00000100888
TCGA cBioPortalCHD8
AceView (NCBI)CHD8
Genatlas (Paris)CHD8
WikiGenes57680
SOURCE (Princeton)CHD8
Genetics Home Reference (NIH)CHD8
Genomic and cartography
GoldenPath hg19 (UCSC)CHD8  -     chr14:21853353-21899867 -  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHD8  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblCHD8 - 14q11.2 [CytoView hg19]  CHD8 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBICHD8 [Mapview hg19]  CHD8 [Mapview hg38]
OMIM610528   615032   
Gene and transcription
Genbank (Entrez)AB046784 AK056639 AK098408 AK122868 AK122910
RefSeq transcript (Entrez)NM_001170629 NM_020920
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_021249 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)CHD8
Cluster EST : UnigeneHs.530698 [ NCBI ]
CGAP (NCI)Hs.530698
Alternative Splicing GalleryENSG00000100888
Gene ExpressionCHD8 [ NCBI-GEO ]   CHD8 [ EBI - ARRAY_EXPRESS ]   CHD8 [ SEEK ]   CHD8 [ MEM ]
Gene Expression Viewer (FireBrowse)CHD8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57680
GTEX Portal (Tissue expression)CHD8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCK8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCK8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCK8
Splice isoforms : SwissVarQ9HCK8
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 ]   
PhosPhoSitePlusQ9HCK8
Domaine pattern : Prosite (Expaxy)CHROMO_2 (PS50013)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)BRK_domain    Chromo/shadow_dom    Chromo_domain    Chromodomain-like    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SNF2_N   
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)  
Conserved Domain (NCBI)CHD8
DMDM Disease mutations57680
Blocks (Seattle)CHD8
PDB (SRS)2CKA    2DL6   
PDB (PDBSum)2CKA    2DL6   
PDB (IMB)2CKA    2DL6   
PDB (RSDB)2CKA    2DL6   
Structural Biology KnowledgeBase2CKA    2DL6   
SCOP (Structural Classification of Proteins)2CKA    2DL6   
CATH (Classification of proteins structures)2CKA    2DL6   
SuperfamilyQ9HCK8
Human Protein AtlasENSG00000100888
Peptide AtlasQ9HCK8
HPRD16712
IPIIPI00398992   IPI00719073   IPI01025471   IPI01024866   IPI01024753   IPI01025108   IPI00939742   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCK8
IntAct (EBI)Q9HCK8
FunCoupENSG00000100888
BioGRIDCHD8
STRING (EMBL)CHD8
ZODIACCHD8
Ontologies - Pathways
QuickGOQ9HCK8
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  in utero embryonic development  p53 binding  DNA binding  DNA helicase activity  chromatin binding  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  brain development  beta-catenin binding  DNA-dependent ATPase activity  negative regulation of Wnt signaling pathway  DNA duplex unwinding  methylated histone binding  histone binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase III promoter  digestive tract development  canonical Wnt signaling pathway  armadillo repeat domain binding  MLL1 complex  negative regulation of canonical Wnt signaling pathway  negative regulation of fibroblast apoptotic process  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  in utero embryonic development  p53 binding  DNA binding  DNA helicase activity  chromatin binding  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  transcription, DNA-templated  brain development  beta-catenin binding  DNA-dependent ATPase activity  negative regulation of Wnt signaling pathway  DNA duplex unwinding  methylated histone binding  histone binding  ATP-dependent chromatin remodeling  protein complex  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase III promoter  digestive tract development  canonical Wnt signaling pathway  armadillo repeat domain binding  MLL1 complex  negative regulation of canonical Wnt signaling pathway  negative regulation of fibroblast apoptotic process  
Pathways : KEGGWnt signaling pathway   
NDEx NetworkCHD8
Atlas of Cancer Signalling NetworkCHD8
Wikipedia pathwaysCHD8
Orthology - Evolution
OrthoDB57680
GeneTree (enSembl)ENSG00000100888
Phylogenetic Trees/Animal Genes : TreeFamCHD8
HOVERGENQ9HCK8
HOGENOMQ9HCK8
Homologs : HomoloGeneCHD8
Homology/Alignments : Family Browser (UCSC)CHD8
Gene fusions - Rearrangements
Fusion : MitelmanCHD8/IMPG1 [14q11.2/6q14.1]  
Fusion : MitelmanCHD8/KIAA1211 [14q11.2/4q12]  [t(4;14)(q12;q11)]  
Fusion : MitelmanCHD8/RAB2B [14q11.2/14q11.2]  [t(14;14)(q11;q11)]  
Fusion : MitelmanCHD8/TOX4 [14q11.2/14q11.2]  [t(14;14)(q11;q11)]  
Fusion: TCGACHD8 14q11.2 IMPG1 6q14.1 BRCA
Fusion: TCGACHD8 14q11.2 KIAA1211 4q12 LGG
Fusion: TCGACHD8 14q11.2 RAB2B 14q11.2 BRCA
Fusion: TCGACHD8 14q11.2 TOX4 14q11.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHD8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHD8
dbVarCHD8
ClinVarCHD8
1000_GenomesCHD8 
Exome Variant ServerCHD8
ExAC (Exome Aggregation Consortium)CHD8 (select the gene name)
Genetic variants : HAPMAP57680
Genomic Variants (DGV)CHD8 [DGVbeta]
DECIPHER (Syndromes)14:21853353-21899867  ENSG00000100888
CONAN: Copy Number AnalysisCHD8 
Mutations
ICGC Data PortalCHD8 
TCGA Data PortalCHD8 
Broad Tumor PortalCHD8
OASIS PortalCHD8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHD8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHD8
intOGen PortalCHD8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHD8
DgiDB (Drug Gene Interaction Database)CHD8
DoCM (Curated mutations)CHD8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHD8 (select a term)
intoGenCHD8
Cancer3DCHD8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610528    615032   
Orphanet
MedgenCHD8
Genetic Testing Registry CHD8
NextProtQ9HCK8 [Medical]
TSGene57680
GENETestsCHD8
Huge Navigator CHD8 [HugePedia]
snp3D : Map Gene to Disease57680
BioCentury BCIQCHD8
ClinGenCHD8 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57680
Chemical/Pharm GKB GenePA134957052
Clinical trialCHD8
Miscellaneous
canSAR (ICR)CHD8 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHD8
EVEXCHD8
GoPubMedCHD8
iHOPCHD8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:56:25 CEST 2017

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