Human Gene Module / Chromosome 1 / AGO4

AGO4argonaute RISC catalytic component 4

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 2
Rare Variants / Common Variants
2 / 0
Aliases
AGO4, EIF2C4
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
1p34.3
Associated Disorders
-
Relevance to Autism

De novo missense variants in the AGO4 gene have been identified in two ASD probands (De Rubeis et al., 2014). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified AGO4 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); AGO4 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).

Molecular Function

This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing.

Reports related to AGO4 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
2 Recent Recommendation Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Coe BP , et al. (2018) No -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.167G>T p.Arg56Leu missense_variant De novo - - 25363760 De Rubeis S , et al. (2014)
c.1797G>T p.Lys599Asn missense_variant De novo - - 25363760 De Rubeis S , et al. (2014)
Common Variants  

No common variants reported.

CNVs associated with AGO4(1 CNVs)
1p34.3 10 Deletion-Duplication 18  /  39
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