Human Gene Module / Chromosome 7 / AUTS2

AUTS2autism susceptibility candidate 2

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
14 / 34
Rare Variants / Common Variants
45 / 2
Aliases
-
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic, Genetic Association
Chromosome Band
7q11.22
Associated Disorders
ID, ASD, DD/NDD
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

Reports related to AUTS2 (34 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Sultana R , et al. (2002) Yes -
2 Support Autism and ultraconserved non-coding sequence on chromosome 7q. Richler E , et al. (2006) Yes -
3 Highly Cited Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Kalscheuer VM , et al. (2007) No -
4 Recent Recommendation Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Elia J , et al. (2009) No -
5 Recent Recommendation Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. Hamshere ML , et al. (2009) No -
6 Recent Recommendation Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology. Bedogni F , et al. (2009) No -
7 Recent Recommendation Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. Mefford HC , et al. (2010) No -
8 Recent Recommendation Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Bedogni F , et al. (2010) No -
9 Support A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Huang XL , et al. (2010) Yes -
10 Recent Recommendation Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consump... Schumann G , et al. (2011) No -
11 Support Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. Ben-David E , et al. (2011) Yes -
12 Support Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Talkowski ME , et al. (2012) Yes -
13 Recent Recommendation Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Nagamani SC , et al. (2012) Yes -
14 Support A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013) Yes -
15 Recent Recommendation Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Beunders G , et al. (2013) No ASD
16 Recent Recommendation Function and regulation of AUTS2, a gene implicated in autism and human evolution. Oksenberg N , et al. (2013) No -
17 Support Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013) Yes -
18 Support De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literatu... Jolley A , et al. (2013) No ID
19 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... Amarillo IE , et al. (2014) No -
20 Support Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Egger G , et al. (2014) Yes -
21 Support Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ... Brett M , et al. (2014) Yes MCA
22 Support De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. McCarthy SE , et al. (2014) No -
23 Recent Recommendation Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Oksenberg N , et al. (2014) No -
24 Recent Recommendation Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome. Beunders G , et al. (2014) Yes DD, ID
25 Recent Recommendation An AUTS2-Polycomb complex activates gene expression in the CNS. Gao Z , et al. (2014) No -
26 Support Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014) No -
27 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. Liu Y , et al. (2015) Yes -
28 Support A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Beunders G , et al. (2016) No -
29 Support The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Redin C , et al. (2016) Yes -
30 Support Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment. Chen XS , et al. (2017) No -
31 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 ... Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) Yes -
32 Support Genomic diagnosis for children with intellectual disability and/or developmental delay. Bowling KM , et al. (2017) No Speech delay, developmental regression
33 Support Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop... Schluth-Bolard C , et al. (2019) No Microcephaly
34 Recent Recommendation AUTS2 isoforms control neuronal differentiation. Monderer-Rothkoff G , et al. (2019) No -
Rare Variants   (45)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_gain - - - 19546859 Elia J , et al. (2009)
- - inversion De novo - - 27841880 Redin C , et al. (2016)
- - inversion Unknown - - 27841880 Redin C , et al. (2016)
- - copy_number_loss - - - 20502679 Mefford HC , et al. (2010)
c.61T>G - gene_variant - - - 16395125 Richler E , et al. (2006)
- - inversion De novo - - 22521361 Talkowski ME , et al. (2012)
c.7C>T N/A gene_variant - - - 16395125 Richler E , et al. (2006)
c.47A>G N/A gene_variant - - - 16395125 Richler E , et al. (2006)
- - copy_number_loss De novo - - 27075013 Beunders G , et al. (2016)
- - inversion De novo - Unknown 23332918 Beunders G , et al. (2013)
N/A N/A translocation De novo - - 20635338 Huang XL , et al. (2010)
- - copy_number_loss De novo - - 23535821 Girirajan S , et al. (2013)
- - copy_number_loss De novo - - 24459036 Amarillo IE , et al. (2014)
- - copy_number_loss De novo - Simplex 25851617 Liu Y , et al. (2015)
A>G p.(=) synonymous_variant - - - 12160723 Sultana R , et al. (2002)
- - translocation De novo - - 30923172 Schluth-Bolard C , et al. (2019)
- - translocation De novo - Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss Unknown - Unknown 23275889 Prasad A , et al. (2013)
- - copy_number_loss De novo - Simplex 23650183 Jolley A , et al. (2013)
- - copy_number_gain Familial Maternal - 24643514 Egger G , et al. (2014)
N/A N/A translocation De novo - - 17211639 Kalscheuer VM , et al. (2007)
- - copy_number_loss De novo - Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss Unknown - Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss De novo - Simplex 25205402 Beunders G , et al. (2014)
- - copy_number_loss De novo - Simplex 27075013 Beunders G , et al. (2016)
- - copy_number_loss De novo - Unknown 22872102 Nagamani SC , et al. (2012)
- - copy_number_gain Familial Maternal - 21680558 Ben-David E , et al. (2011)
c.3682G>T p.Ala1228Ser missense_variant - - - 12160723 Sultana R , et al. (2002)
c.317C>T p.Gln107Ter stop_gained De novo - - 27075013 Beunders G , et al. (2016)
- - copy_number_loss Familial Maternal Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss Familial Paternal Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss Unknown Not maternal Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss Unknown Not paternal Unknown 23332918 Beunders G , et al. (2013)
c.454C>T p.Arg152Ter stop_gained De novo - Simplex 24776741 McCarthy SE , et al. (2014)
- - copy_number_loss Unknown (not maternal) - Unknown 22872102 Nagamani SC , et al. (2012)
c.1486dupC p.Gln496Profs frameshift_variant De novo - - 28554332 Bowling KM , et al. (2017)
- - copy_number_loss Familial Maternal Multi-generational 23332918 Beunders G , et al. (2013)
- - copy_number_loss Familial Maternal Multi-generational 27075013 Beunders G , et al. (2016)
- - copy_number_gain Familial Maternal Multi-generational 22872102 Nagamani SC , et al. (2012)
c.857_858delAA p.Lys286fs frameshift_variant De novo - Simplex 25205402 Beunders G , et al. (2014)
c.778G>A p.Val260Ile missense_variant Familial Maternal Multiplex 24690944 Brett M , et al. (2014)
c.349C>T p.Arg117Cys missense_variant Familial Maternal Multiplex 28440294 Chen XS , et al. (2017)
- - copy_number_loss Familial (n=1), Unknown (n=1) Paternal (n=1) Unknown 23332918 Beunders G , et al. (2013)
- - copy_number_loss Unknown (n=2), Familial (n=1) Maternal (n=1) Unknown 23332918 Beunders G , et al. (2013)
c.317C>T p.Gln107Ter stop_gained De novo - Simplex 25533962 Deciphering Developmental Disorders Study (2014)
Common Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.907G>T;c.-1878G>T;c.433G>T;c.406G>T p.Ala303Thr;p.Ala145Thr;p.Ala136Thr missense_variant;2KB_upstream_variant - - - 28540026 Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017)
c.661-94715T>A A/T intron_variant - - - 21471458 Schumann G , et al. (2011)
SFARI Gene score
3

Suggestive Evidence

3

Score Delta: Increased from 3 to 4.4 + acc2

3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

4/1/2018
3
icon
4.4 + acc2

Increased from 3 to 4.4 + acc2

Description

3

4/1/2017
3
icon
3

Increased from 3 to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD and other neurodevelopmental disorders (NDD) in multiple studies. While initial studies were performed without rigorous comparison with controls, Beunders et al., 2013 demonstrated a statistical enrichment of exonic AUTS2 deletions in NDD cases compared to controls (24/49,684 cases vs. 0/16,784 controls; P=0.00092). In addition to ASD, there is genetic evidence implicating it in developmental delay/intellectual disability, epilepsy and ADHD, which boosts it to category 3. Knockdown of AUTS2 in zebrafish resulted in smaller head size, neuronal reduction, and decreased mobility (Oksenberg et al., 2013), while knockdown in mice led to impaired cortical neuronal migration and neuritogenesis (Hori et al., 2014).

Reports Added
[Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.2009] [Autism and ultraconserved non-coding sequence on chromosome 7q.2006] [A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.2010] [Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.2011] [Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Global increases in both common and rare copy number load associated with autism.2013] [Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.2014] [Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.2014] [Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.2012] [Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.2002] [De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literatu...2013] [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...2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.2010] [Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.2013] [Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.2007] [De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.2014] [Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.2009] [Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.2009] [Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex.2010] [Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consump...2011] [Function and regulation of AUTS2, a gene implicated in autism and human evolution.2013] [Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.2014] [An AUTS2-Polycomb complex activates gene expression in the CNS.2014] [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.2015] [A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.2016] [The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.2016] [Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.2017] [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 ...2017] [Genomic diagnosis for children with intellectual disability and/or developmental delay.2017]
10/1/2016
3
icon
3

Increased from 3 to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD and other neurodevelopmental disorders (NDD) in multiple studies. While initial studies were performed without rigorous comparison with controls, Beunders et al., 2013 demonstrated a statistical enrichment of exonic AUTS2 deletions in NDD cases compared to controls (24/49,684 cases vs. 0/16,784 controls; P=0.00092). In addition to ASD, there is genetic evidence implicating it in developmental delay/intellectual disability, epilepsy and ADHD, which boosts it to category 3. Knockdown of AUTS2 in zebrafish resulted in smaller head size, neuronal reduction, and decreased mobility (Oksenberg et al., 2013), while knockdown in mice led to impaired cortical neuronal migration and neuritogenesis (Hori et al., 2014).

4/1/2016
3
icon
3

Increased from 3 to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD and other neurodevelopmental disorders (NDD) in multiple studies. While initial studies were performed without rigorous comparison with controls, Beunders et al., 2013 demonstrated a statistical enrichment of exonic AUTS2 deletions in NDD cases compared to controls (24/49,684 cases vs. 0/16,784 controls; P=0.00092). In addition to ASD, there is genetic evidence implicating it in developmental delay/intellectual disability, epilepsy and ADHD, which boosts it to category 3. Knockdown of AUTS2 in zebrafish resulted in smaller head size, neuronal reduction, and decreased mobility (Oksenberg et al., 2013), while knockdown in mice led to impaired cortical neuronal migration and neuritogenesis (Hori et al., 2014).

Reports Added
[Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.2009] [Autism and ultraconserved non-coding sequence on chromosome 7q.2006] [A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.2010] [Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.2011] [Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Global increases in both common and rare copy number load associated with autism.2013] [Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.2014] [Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.2014] [Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.2012] [Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.2002] [De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literatu...2013] [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...2014] [Large-scale discovery of novel genetic causes of developmental disorders.2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.2010] [Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.2013] [Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.2007] [De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.2014] [Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.2009] [Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.2009] [Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex.2010] [Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consump...2011] [Function and regulation of AUTS2, a gene implicated in autism and human evolution.2013] [Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.2014] [An AUTS2-Polycomb complex activates gene expression in the CNS.2014] [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.2015] [A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.2016]
4/1/2015
3
icon
3

Increased from 3 to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD, without rigorous comparison with controls. There is genetic evidence implicating it in epilepsy and ADHD, which boosts it to category 3.

1/1/2015
3
icon
3

Increased from 3 to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD, without rigorous comparison with controls. There is genetic evidence implicating it in epilepsy and ADHD, which boosts it to category 3.

7/1/2014
No data
icon
3

Increased from No data to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD, without rigorous comparison with controls. There is genetic evidence implicating it in epilepsy and ADHD, which boosts it to category 3.

Reports Added
[Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.2002] [Autism and ultraconserved non-coding sequence on chromosome 7q.2006] [Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.2007] [Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.2009] [Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.2009] [Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.2009] [Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.2010] [Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex.2010] [A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.2010] [Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consump...2011] [Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.2011] [Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.2012] [Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.2012] [A discovery resource of rare copy number variations in individuals with autism spectrum disorder.2013] [Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.2013] [Function and regulation of AUTS2, a gene implicated in autism and human evolution.2013] [Global increases in both common and rare copy number load associated with autism.2013] [De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literatu...2013] [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...2014] [Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...2014] [Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.2014] [De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.2014] [Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.2014] [Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.2014]
4/1/2014
No data
icon
3

Increased from No data to 3

Description

Rare variants and deletions have been identified in AUTS2 in individuals with ASD, without rigorous comparison with controls. There is genetic evidence implicating it in epilepsy and ADHD, which boosts it to category 3.

Krishnan Probability Score

Score 0.57034570021889

Ranking 934/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.99618748200847

Ranking 1432/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.95033662231717

Ranking 18452/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score

Score 38

Ranking 53/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.45755361568787

Ranking 851/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
CNVs associated with AUTS2(1 CNVs)
7q11.22 34 Deletion-Duplication 59  /  201
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
Acad9 acyl-CoA dehydrogenase family, member 9 Human DNA Binding 28976 Q9H845
Ap3b1 adaptor-related protein complex 3, beta 1 subunit Human DNA Binding 8546 E5RJ68
Ass1 Argininosuccinate synthase Human DNA Binding 445 P00966
Astn2 astrotactin 2 Mouse DNA Binding 56079 Q80Z10
Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 Mouse DNA Binding 11941 Q9R0K7
Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 Human DNA Binding NM_145691 Q8N5M1
B3galtl beta 1,3-galactosyltransferase-like Human DNA Binding 145173 Q6Y288
Bckdhb branched chain keto acid dehydrogenase E1, beta polypeptide Human DNA Binding 594 P21953
Blm Bloom syndrome, RecQ helicase-like Human DNA Binding 641 P54132
Casr calcium-sensing receptor Human DNA Binding 846 P41180
Ccbe1 Collagen and calcium-binding EGF domain-containing protein 1 Human DNA Binding 147372 Q6UXH8
Chmp2b charged multivesicular body protein 2B Human DNA Binding 25978 B2RE76
Cln8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) Human DNA Binding 2055 Q9UBY8
Cntn4 contactin 4 Mouse DNA Binding 269784 Q69Z26
Cntnap2 forkhead box P2 Mouse DNA Binding 114142 P58463
CSNK2A2 casein kinase 2, alpha prime polypeptide Human Protein Binding 1459 P19784
Ctsd cathepsin D Human DNA Binding 1509 P07339
D2hgdh D-2-hydroxyglutarate dehydrogenase Human DNA Binding 728294 Q8N465
DCAF7 DDB1 and CUL4 associated factor 7 Human Protein Binding 10238 P61962
Dhcr24 24-dehydrocholesterol reductase Human DNA Binding 1718 Q15392
Dhcr7 7-dehydrocholesterol reductase Human DNA Binding 1717 Q9UBM7
Dld dihydrolipoamide dehydrogenase Human DNA Binding 1738 P09622
Dolk dolichol kinase Human DNA Binding 22845 Q9UPQ8
Dpm1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Human DNA Binding 8813 O60762
Dync2h1 dynein, cytoplasmic 2, heavy chain 1 Human DNA Binding 79659 Q8NCM8
Efnb1 ephrin-B1 Human DNA Binding 1947 P98172
Eif2b3 Translation initiation factor eIF-2B subunit gamma Human DNA Binding 8891 Q9NR50
Eif2b5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa Human DNA Binding 8893 Q13144
Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 Human DNA Binding 2068 P18074
Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 Human DNA Binding 2074 Q03468
Esco2 establishment of cohesion 1 homolog 2 (S. cerevisiae) Human DNA Binding 157570 Q56NI9
Etfdh electron-transferring-flavoprotein dehydrogenase Human DNA Binding 2110 Q16134
Fam20c family with sequence similarity 20, member C Human DNA Binding 56975 Q8IXL6
Fgfr3 fibroblast growth factor receptor 3 Human DNA Binding 2261 P22607
Fh1 FH1/FH2 domain-containing protein 1 Human DNA Binding 29109 Q9Y613
Fktn fukutin Human DNA Binding 2218 O75072
Foxp2 forkhead box P2 Mouse DNA Binding 114142 P58463
Ftl1 Ferritin light chain Human DNA Binding 2512 P02792
Gli2 GLI family zinc finger 2 Human DNA Binding 2736 P10070
Gpr56 G protein-coupled receptor 56 Human DNA Binding 9289 B3KQN7
Hibch 3-hydroxyisobutyryl-CoA hydrolase Human DNA Binding NM_014362 Q6NVY1
Hyls1 Hydrolethalus syndrome protein 1 Human DNA Binding 219844 Q96M11
Igf1r insulin-like growth factor 1 receptor Human DNA Binding 3480 P08069
Inpp5e inositol polyphosphate-5-phosphatase, 72 kDa Human DNA Binding 56623 Q9NRR6
Kdm5c lysine (K)-specific demethylase 5C Human DNA Binding NM_001146702 P41229
Kras v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog Human DNA Binding 3845 P01116
Large Glycosyltransferase-like protein LARGE1 Human DNA Binding 9215 O95461
Map2k2 mitogen-activated protein kinase kinase 2 Human DNA Binding 5605 P36507
Mapk10 mitogen-activated protein kinase 10 Human DNA Binding 5602 P53779
Mapt microtubule-associated protein tau Human DNA Binding 4137 P10636
Mcoln1 mucolipin 1 Human DNA Binding 57192 Q9GZU1
Mcph1 microcephalin 1 Human DNA Binding 79648 Q8NEM0
Mks1 Meckel syndrome type 1 protein Human DNA Binding 54903 Q9NXB0
Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria Human DNA Binding 27249 Q9H3L0
Mocs2 molybdenum cofactor synthesis 2 Human DNA Binding 4338 O96007
Mrps16 mitochondrial ribosomal protein S16 Human DNA Binding 51021 Q9Y3D3
Mycn v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) Human DNA Binding 4613 P04198
Ndufaf3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 Human DNA Binding 25915 Q9BU61
Ndufaf4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 Human DNA Binding 29078 Q9P032
Ndufs6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) Human DNA Binding 4726 O75380
Nsdhl NAD(P) dependent steroid dehydrogenase-like Human DNA Binding 50814 Q15738
P300 Histone acetyltransferase p300 Human Protein Binding 2033 Q09472
Pank2 pantothenate kinase 2 Human DNA Binding 80025 Q9BZ23
Pccb propionyl CoA carboxylase, beta polypeptide Human DNA Binding 5096 P05166
PCGF5 polycomb group ring finger 5 Human Protein Binding 84333 Q86SE9
PCGF6 polycomb group ring finger 6 Human Protein Binding 84108 Q9BYE7
Pcnt pericentrin Human DNA Binding 5116 O95613
Pex1 peroxisomal biogenesis factor 1 Human DNA Binding 5189 O43933
Pex10 peroxisomal biogenesis factor 10 Human DNA Binding NM_153818 A0A024R068
Pex13 peroxisomal biogenesis factor 13 Human DNA Binding 5194 Q92968
Pex14 peroxisomal biogenesis factor 14 Human DNA Binding 5195 O75381
Pex19 peroxisomal biogenesis factor 19 Human DNA Binding 5824 P40855
Pla2g6 85/88 kDa calcium-independent phospholipase A2 Human DNA Binding 8398 O60733
Pomt1 protein-O-mannosyltransferase 1 Human DNA Binding 10585 Q9Y6A1
Ppp2r2b protein phosphatase 2, regulatory subunit B, beta Human DNA Binding 5521 Q00005
Prps1l3 Ribose-phosphate pyrophosphokinase 3 Human DNA Binding 221823 P21108
Psap prosaposin Human DNA Binding 5660 P07602
Psat1 phosphoserine aminotransferase 1 Human DNA Binding 29968 Q9Y617
Pts 6-pyruvoyl tetrahydrobiopterin synthase Human DNA Binding 5805 Q03393
Rab23 RAB23, member RAS oncogene family Human DNA Binding 51715 Q9ULC3
Rab3gap2 RAB3 GTPase activating protein subunit 2 (non-catalytic) Human DNA Binding 25782 Q9H2M9
Recql4 ATP-dependent DNA helicase Q4 Human DNA Binding 9401 O94761
Reln reelin Mouse DNA Binding 19699 Q60841
Rpia ribose 5-phosphate isomerase A Human DNA Binding 22934 P49247
RYBP RING1 and YY1 binding protein Human Protein Binding 23429 Q8N488
Sall1 sal-like 1 (Drosophila) Human DNA Binding 6299 Q9NSC2
Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) Human DNA Binding 6389 P31040
Sdhaf1 succinate dehydrogenase complex assembly factor 1 Human DNA Binding 644096 A6NFY7
Shh Sonic hedgehog protein Human DNA Binding 6469 Q15465
Six3 SIX homeobox 3 Human DNA Binding NM_005413 O95343
Slc17a5 solute carrier family 17 (anion/sugar transporter), member 5 Human DNA Binding 26503 Q9NRA2
Slc35c1 solute carrier family 35 (GDP-fucose transporter), member C1 Human DNA Binding 55343 Q96A29
Slc9a6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Human DNA Binding 10479 Q92581
Snap29 synaptosomal-associated protein, 29kDa Human DNA Binding 9342 O95721
Spg11 spastic paraplegia 11 (autosomal recessive) Human DNA Binding 80208 Q96JI7
Spg7 spastic paraplegia 7 (pure and complicated autosomal recessive) Human DNA Binding 6687 Q9UQ90
Spr sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) Human DNA Binding 6697 P35270
Sucla2 succinate-CoA ligase, ADP-forming, beta subunit Human DNA Binding 8803 E5KS60
Tbce Tubulin-specific chaperone E Human DNA Binding 6905 Q15813
Tinf2 TERF1-interacting nuclear factor 2 Human DNA Binding 26277 Q9BSI4
Tsen54 tRNA splicing endonuclease 54 homolog (S. cerevisiae) Human DNA Binding 283989 Q7Z6J9
Tuba1b tubulin, alpha 1b Human DNA Binding 10376 P68363
Tubb3 tubulin, beta 3 class III Human DNA Binding 10381 A8K854
Tymp Thymidine phosphorylase Human DNA Binding 1890 P19971
Upb1 Beta-ureidopropionase Human DNA Binding 51733 Q9UBR1
Vangl1 VANGL planar cell polarity protein 1 Human DNA Binding 81839 Q8TAA9
Vps13a vacuolar protein sorting 13 homolog A (S. cerevisiae) Human DNA Binding 23230 Q96RL7
YAF2 YY1 associated factor 2 Human Protein Binding 10138 Q8IY57
Zbtb16 zinc finger and BTB domain containing 16 Human DNA Binding 7704 Q05516
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