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Relevance to Autism

Multiple studies have identified rare mutations in the AUTS2 gene with autism. In addition, several studies have found that rare variants in AUTS2 are identified with mental retardation, ADHD, epilepsy and genetically associated with alcohol consumption.

Molecular Function

unknown

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
ID
Microcephaly
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.
SCZ
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Speech delay, developmental regression
Support
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Specific language impairment
Support
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
ASD
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
ASD, DD
Support
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.
ASD
Support
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role...
DD
Support
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Support
Autism and ultraconserved non-coding sequence on chromosome 7q.
ASD
Support
De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literatu...
DD
ID
Support
De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
ASD, DD
Support
Global increases in both common and rare copy number load associated with autism.
ASD
Highly Cited
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
ID
Recent Recommendation
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consump...
Recent Recommendation
An AUTS2-Polycomb complex activates gene expression in the CNS.
Recent Recommendation
Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex.
Recent Recommendation
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
ASD
DD, ID
Recent Recommendation
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Epilepsy
Recent Recommendation
Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.
Recent Recommendation
Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.
Recent Recommendation
Function and regulation of AUTS2, a gene implicated in autism and human evolution.
Recent Recommendation
Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
Recent Recommendation
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
ID
ASD
Recent Recommendation
Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
ADHD
Recent Recommendation
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
ASD, DD, ID
Recent Recommendation
AUTS2 isoforms control neuronal differentiation.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN022R001 
 gene_variant 
 c.47A>G 
 N/A 
  
  
  
 GEN022R002 
 gene_variant 
 c.7C>T 
 N/A 
  
  
  
 GEN022R003 
 gene_variant 
 c.61T>G 
  
  
  
  
 GEN022R004 
 translocation 
 N/A 
 N/A 
 De novo 
  
  
 GEN022R005 
 translocation 
 N/A 
 N/A 
 De novo 
  
  
 GEN022R006 
 translocation 
 N/A 
 N/A 
 De novo 
  
  
 GEN022R007 
 copy_number_gain 
  
  
  
  
  
 GEN022R008 
 copy_number_loss 
  
  
  
  
  
 GEN022R009 
 copy_number_loss 
  
  
  
  
  
 GEN022R010 
 translocation 
 N/A 
 N/A 
 De novo 
  
  
 GEN022R011 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN022R012 
 missense_variant 
 c.3682G>T 
 p.Ala1228Ser 
  
  
  
 GEN022R013 
 synonymous_variant 
 A>G 
 p.(=) 
  
  
  
 GEN022R014 
 inversion 
  
  
 De novo 
  
  
 GEN022R015 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R016 
 copy_number_loss 
  
  
 Unknown (not maternal) 
  
 Unknown 
 GEN022R017 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN022R018 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R019 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN022R020 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R021 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R022 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN022R023 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R024 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN022R025 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R026 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R027 
 copy_number_loss 
  
  
 Unknown 
 Not paternal 
 Unknown 
 GEN022R028 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R029 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R030 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R031 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
 Unknown 
 GEN022R032 
 inversion 
  
  
 De novo 
  
 Unknown 
 GEN022R033 
 translocation 
  
  
 De novo 
  
 Unknown 
 GEN022R034 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R035 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R036 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R037 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R038 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN022R039 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Unknown 
 GEN022R040 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R041 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R042 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R043 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R044 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN022R045 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R046 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN022R047 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN022R048 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R049 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R050 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R051 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Unknown 
 GEN022R052 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R053 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R054 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R055 
 copy_number_loss 
  
  
 Familial (n=1), Unknown (n=1) 
 Paternal (n=1) 
 Unknown 
 GEN022R056 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN022R057 
 copy_number_loss 
  
  
 Unknown (n=2), Familial (n=1) 
 Maternal (n=1) 
 Unknown 
 GEN022R058 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN022R059 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN022R060 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN022R061 
 missense_variant 
 c.778G>A 
 p.Val260Ile 
 Familial 
 Maternal 
 Multiplex 
 GEN022R062 
 copy_number_gain 
  
  
 Familial 
 Maternal 
  
 GEN022R063 
 stop_gained 
 c.454C>T 
 p.Arg152Ter 
 De novo 
  
 Simplex 
 GEN022R064 
 frameshift_variant 
 c.857_858delAA 
 p.Lys286fs 
 De novo 
  
 Simplex 
 GEN022R065 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN022R066 
 stop_gained 
 c.317C>T 
 p.Gln107Ter 
 De novo 
  
 Simplex 
 GEN022R067 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN022R068 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN022R069 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN022R070 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN022R071 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN022R072 
 stop_gained 
 c.317C>T 
 p.Gln107Ter 
 De novo 
  
  
 GEN022R073 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN022R074 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN022R075 
 inversion 
  
  
 De novo 
  
  
 GEN022R076 
 inversion 
  
  
 Unknown 
  
  
 GEN022R077 
 missense_variant 
 c.349C>T 
 p.Arg117Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN022R078 
 frameshift_variant 
 c.1486dupC 
 p.Gln496Profs 
 De novo 
  
  
 GEN022R079 
 translocation 
  
  
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN022C001 
 intron_variant 
 rs6943555 
 c.661-94715T>A 
 A/T 
  
 Discovery 
 GEN022C002 
 missense_variant;2KB_upstream_variant 
 rs2293507 
 c.907G>T;c.-1878G>T;c.433G>T;c.406G>T 
 p.Ala303Thr;p.Ala145Thr;p.Ala136Thr 
 7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion
 2
 
7
Deletion-Duplication
 2
 
7
Deletion
 1
 
7
Deletion-Duplication
 34
 
7
Duplication
 8
 

Model Summary

Suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the short C-terminal isoform of AUTS2.

References

Type
Title
Author, Year
Primary
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Primary
Function and regulation of AUTS2, a gene implicated in autism and human evolution.

Z_auts2a_1_KD_5'MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: Zebrafish morphants treated with splice-blocking morpholino designed to target the splice donor site of exon 2 of auts2 to suppress the full-length transcript. Embryos were injected with with 4.5 ng 5' MO.
Allele Type: Loss-of-function
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_auts2a_2_KD_3'MO

Model Type: Genetic
Model Genotype: Wild type
Mutation: </