Gene: CHD8

Alternate names for this Gene: AUTS18|HELSNF1

Gene Summary: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: chromodomain helicase DNA binding protein 8

Type of Gene: protein-coding

rs1566446604 in CHD8 gene and AUTISM, SUSCEPTIBILITY TO, 18 PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

rs1566446604 in CHD8 gene and Autistic Disorder PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

rs28663442 in CHD8 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs1555314736 in CHD8 gene and Dysmorphic features PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

rs1566446604 in CHD8 gene and Eczema PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

rs1555314736 in CHD8 gene and Multiple congenital anomalies PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs1555314736 in CHD8 gene and Muscle hypotonia PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

rs1566446604 in CHD8 gene and Overgrowth PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

rs1566446604 in CHD8 gene and Poor school performance PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

rs1566446604 in CHD8 gene and Seizures PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.