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

Gene: SNORD9

Alternate names for this Gene:

Gene Summary:

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Description of this Gene:

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rs1555313219 in CHD8;SNORD9 gene and AUTISM, SUSCEPTIBILITY TO, 18 PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

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

rs1555313219 in CHD8;SNORD9 gene and Poor school performance 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 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.