CHD8 (chromodomain helicase DNA binding protein 8)

2010-08-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
AUTS18,HELSNF1
FUSION GENES

Other Information

Locus ID:

NCBI: 57680
MIM: 610528
HGNC: 20153
Ensembl: ENSG00000100888

Variants:

dbSNP: 57680
ClinVar: 57680
TCGA: ENSG00000100888
COSMIC: CHD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100888ENST00000399982Q9HCK8
ENSG00000100888ENST00000430710Q9HCK8
ENSG00000100888ENST00000553283G3V2T9
ENSG00000100888ENST00000553622G3V303
ENSG00000100888ENST00000553870H0YJA4
ENSG00000100888ENST00000555935H0YJG4
ENSG00000100888ENST00000555962A0A2R8YFI9
ENSG00000100888ENST00000557364Q9HCK8
ENSG00000100888ENST00000642518A0A2R8YFT4
ENSG00000100888ENST00000643469Q9HCK8
ENSG00000100888ENST00000645140A0A2R8Y4P3
ENSG00000100888ENST00000645929Q9HCK8
ENSG00000100888ENST00000646063A0A2R8Y808
ENSG00000100888ENST00000646340A0A2R8Y840
ENSG00000100888ENST00000646647Q9HCK8

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Deactivation of the beta-catenin transactivating complexREACTOMER-HSA-3769402

References

Pubmed IDYearTitleCitations
224953112012Patterns and rates of exonic de novo mutations in autism spectrum disorders.729
249989292014Disruptive CHD8 mutations define a subtype of autism early in development.193
252949322014CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.101
257522432015The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.94
183786922008CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.75
266264812015NSD3-Short Is an Adaptor Protein that Couples BRD4 to the CHD8 Chromatin Remodeler.47
220839582012Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.39
192550922009The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene.36
179382082007CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription.34
242114912014Colorectal carcinomas with CpG island methylator phenotype 1 frequently contain mutations in chromatin regulators.34

Citation

Dessen P

CHD8 (chromodomain helicase DNA binding protein 8)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51568/chd8-(chromodomain-helicase-dna-binding-protein-8)