geno logo
     HELP     Sign In

Quick Links

TOOLS
Search

Relevance to Autism

De novo missense variants that were predicted in silico to be damaging were observed in the AGO1 gene in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014) and an ASD proband from a cohort of 262 Japanese trios (Takata et al., 2018). TADA-Denovo analysis using a combined dataset of previously published cohorts from the Simons Simplex Collection and the Autism Sequencing Consortium, as well as the Japanese ASD cohort from Takata et al., 2018, identified AGO1 as a gene significantly enriched in damaging de novo mutations in ASD cases (pBH < 0.05).

Molecular Function

This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo mutations in moderate or severe intellectual disability.
ID, epilepsy/seizures
Speech delay
Support
DD
Stereotypy
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Absent speech,motor delay
Support
ASD
Support
DD, ID
Autistic features
Support
Integrating de novo and inherited variants in 42
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
ID, autistic behavior, stereotypies
Speech delay, motor delay
Support
ASD, schizophrenia, DD, ID
Epilepsy/seizures
Recent Recommendation
ASD, DD, ID
Recent Recommendation
De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype
DD, ID, epilepsy/seizures
Recent Recommendation
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
DD, ID
ASD or autistic behavior, stereotypy, epilepsy/sei
Recent recommendation
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum diso...
ID
Epilepsy/seizures
Recent Recommendation
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1003R001 
 missense_variant 
 c.1064C>T 
 p.Thr355Ile 
 De novo 
  
 Simplex 
 GEN1003R002 
 missense_variant 
 c.596G>T 
 p.Gly199Val 
 De novo 
  
 Simplex 
 GEN1003R003 
 missense_variant 
 c.569T>C 
 p.Leu190Pro 
 De novo 
  
  
 GEN1003R004 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
  
 GEN1003R005 
 missense_variant 
 c.583G>A 
 p.Glu195Lys 
 De novo 
  
  
 GEN1003R006 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
 Simplex 
 GEN1003R007 
 missense_variant 
 c.2399C>T 
 p.Pro800Leu 
 Unknown 
  
 Simplex 
 GEN1003R008 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R009 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R010 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R011 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R012 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R013 
 missense_variant 
 c.566C>T 
 p.Pro189Leu 
 De novo 
  
  
 GEN1003R014 
 missense_variant 
 c.569T>G 
 p.Leu190Arg 
 De novo 
  
  
 GEN1003R015 
 missense_variant 
 c.569T>G 
 p.Leu190Arg 
 De novo 
  
  
 GEN1003R016 
 missense_variant 
 c.569T>C 
 p.Leu190Pro 
 De novo 
  
 Multiplex (monozygotic twins) 
 GEN1003R017 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
  
 GEN1003R018 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
  
 GEN1003R019 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
  
 GEN1003R020 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
  
 GEN1003R021 
 splice_site_variant 
 c.650-2A>G 
  
 De novo 
  
  
 GEN1003R022 
 missense_variant 
 c.758G>A 
 p.Arg253His 
 De novo 
  
  
 GEN1003R023 
 missense_variant 
 c.760G>A 
 p.Val254Ile 
 De novo 
  
  
 GEN1003R024 
 missense_variant 
 c.760G>A 
 p.Val254Ile 
 De novo 
  
  
 GEN1003R025 
 missense_variant 
 c.971C>T 
 p.Pro324Leu 
 De novo 
  
  
 GEN1003R026 
 missense_variant 
 c.1073A>G 
 p.Gln358Arg 
 De novo 
  
  
 GEN1003R027 
 inframe_deletion 
 c.1126_1128del 
 p.Glu376del 
 De novo 
  
  
 GEN1003R028 
 inframe_deletion 
 c.1126_1128del 
 p.Glu376del 
 De novo 
  
  
 GEN1003R029 
 missense_variant 
 c.1253A>T 
 p.Tyr418Phe 
 Unknown 
  
 Unknown 
 GEN1003R030 
 missense_variant 
 c.2252A>T 
 p.His751Leu 
 De novo 
  
 Multiplex (monozygotic twins) 
 GEN1003R031 
 missense_variant 
 c.2342C>T 
 p.Thr781Met 
 Unknown 
  
 Multiplex 
 GEN1003R032 
 missense_variant 
 c.2389A>T 
 p.Ile797Phe 
 De novo 
  
  
 GEN1003R033 
 inframe_deletion 
 c.1126_1128del 
 p.Glu376del 
 De novo 
  
 Simplex 
 GEN1003R034 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
 Simplex 
 GEN1003R035 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
 Simplex 
 GEN1003R036 
 missense_variant 
 c.595G>A 
 p.Gly199Ser 
 De novo 
  
 Simplex 
 GEN1003R037 
 missense_variant 
 c.370C>G 
 p.Arg124Gly 
 De novo 
  
  
 GEN1003R038 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R039 
 missense_variant 
 c.583G>A 
 p.Glu195Lys 
 De novo 
  
 Simplex 
 GEN1003R040 
 missense_variant 
 c.758G>A 
 p.Arg253His 
 De novo 
  
  
 GEN1003R041 
 missense_variant 
 c.1492A>G 
 p.Ser498Gly 
 De novo 
  
  
 GEN1003R042 
 inframe_deletion 
 c.539_541del 
 p.Phe180del 
 De novo 
  
  
 GEN1003R043 
 splice_region_variant 
 c.512+8G>A 
  
 Familial 
 Paternal 
  
 GEN1003R044 
 missense_variant 
 c.971C>T 
 p.Pro324Leu 
 De novo 
  
 Simplex 
 GEN1003R045 
 stop_gained 
 c.1298G>A 
 p.Trp433Ter 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Deletion-Duplication
 11
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.