Developmental Brain Disorder Gene Database

LoF Variant Gene

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Tier

1

AUTS2

HGNC:14262 (protein-coding gene)

activator of transcription and developmental regulator AUTS2

Unique Cases:
47
Disorders:
ID, ASD, EP, ADHD, SCZ, CP
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

DBD Genes Classification
AUTS2 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
Gene Function
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreas... (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
KIAA0442, FBRSL2
Chromosomal Location
7q11.22
Genomic Coordinates
GRCh37:chr7:69063905-70258054
GRCh38:chr7:69598475-70793506
Associated Disorders
Intellectual Disability, Autism, Epilepsy, Attention Deficit Hyperactivity Disorder, Cerebral Palsy

Predictive Scores:

HI Score (Decipher)

0.51

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.25

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Definitive2 Strong1 Supportive1

Publications:

Husson T et. al., Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use., Transl Psychiatry, 2020
Beunders G et. al., A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype., J Med Genet, 2016
Beunders G et. al., Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome., Eur J Hum Genet, 2015
McCarthy SE et. al., De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability., Mol Psychiatry, 2014
Girirajan S et. al., Relative burden of large CNVs on a range of neurodevelopmental phenotypes., PLoS Genet, 2011
Asadollahi R et. al., The clinical significance of small copy number variants in neurodevelopmental disorders., J Med Genet, 2014
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015
C Yuen RK et. al., Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder., Nat Neurosci, 2017
Stojanovic JR et. al., Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability., J Child Neurol, 2020
Mefford HC et. al., Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies., PLoS Genet, 2010
Nagamani SC et. al., Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders., Eur J Hum Genet, 2013
Beunders G et. al., Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus., Am J Hum Genet, 2013
Amarillo IE et. al., 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 in neurodevelopmental disorders., Am J Med Genet A, 2014
Zech M et. al., Monogenic variants in dystonia: an exome-wide sequencing study., Lancet Neurol, 2020
Moreno-De-Luca A et. al., Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy., JAMA, 2021
Fan Y et. al., Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability., Am J Med Genet A, 2016
Liu Y et. al., 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., Am J Med Genet A, 2015
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NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
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Autism & Developmental Medicine Institute