Property Summary

NCBI Gene PubMed Count 41
PubMed Score 36.88
PubTator Score 40.69

Knowledge Summary


No data available


  Differential Expression (19)

Disease log2 FC p
Waldenstrons macroglobulinemia -1.442 6.4e-03
malignant mesothelioma 3.300 8.3e-08
osteosarcoma 1.900 2.6e-03
group 3 medulloblastoma 1.900 1.9e-06
atypical teratoid / rhabdoid tumor 1.100 6.4e-03
medulloblastoma, large-cell 1.900 8.5e-05
juvenile dermatomyositis 1.123 3.1e-06
adrenocortical carcinoma 1.201 1.8e-02
tuberculosis -2.100 1.5e-06
primary pancreatic ductal adenocarcinoma 1.496 1.9e-03
lung cancer -1.100 1.2e-03
fibroadenoma 1.300 1.0e-02
pilocytic astrocytoma -1.800 3.8e-08
posterior fossa group B ependymoma 1.400 2.1e-06
lung carcinoma -1.100 5.9e-13
Breast cancer -1.300 1.4e-05
ovarian cancer -1.600 5.1e-03
pancreatic cancer 1.500 1.6e-03
dermatomyositis 1.500 7.1e-04

Gene RIF (27)

26717414 Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory
26545289 Exonic deletions of AUTS2 is associated with developmental delay and intellectual disability.
26348319 The AUTS2 gene has been repeatedly implicated in neurodevelopmental disorders including autism, intellectual disability and developmental delay.
25962312 In summary, our results indicate that AUTS2 is a candidate biomarker for defining liver metastasis of pancreatic cancer and directing personalized therapies.
25519132 the CK2 component of PRC1-AUTS2 neutralizes PRC1 repressive activity, whereas AUTS2-mediated recruitment of P300 leads to gene activation.
25398668 AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence.
25347278 polymorphism rs6943555 might elucidate the pathogenesis of schizophrenia and play an important role in its etiology
25205402 similarities between the phenotypes of 2 male patients with AUTS2 variants support that AUTS2 syndrome is a single gene disorder.
24859339 AUTS2 mutations are associated with autism spectrum disorder.
24459036 This is one of the smallest de novo intragenic deletions of AUTS2.
24008202 AUTS2, its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways, are reviewed.
23437340 AUTS2 rs6943555 A allele is associated with suicide committed after drinking ethanol shortly before death.
23349641 our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits.
23332918 These observations demonstrate a causal role of AUTS2 in neurocognitive disorders.
22995765 This study indicates that there might be a genetic association of AUTS2 with susceptibility to heroin dependence. Reduced gene expression of AUTS2 in lymphoblastoid cell lines may increase the risk for heroin dependence.
22872102 the role of AUTS2 in normal neurological development and its altered expression may result in a variety of neurobehavioral phenotypes
22578776 PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.
21471458 SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10(-8) to P = 4 x 10(-9)).
20635338 A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 gene is associated with autism.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20398908 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19567891 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19546859 Observational study of gene-disease association. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (45)

PMID Year Title
26717414 2015 Heterozygous Disruption of Autism susceptibility candidate 2 Causes Impaired Emotional Control and Cognitive Memory.
26545289 2016 Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.
26348319 2015 A genome-wide association study of antidepressant response in Koreans.
25962312 2015 AUTS2 is a potential therapeutic target for pancreatic cancer patients with liver metastases.
25519132 2014 An AUTS2-Polycomb complex activates gene expression in the CNS.
25398668 2014 The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility.
25347278 2014 Association study identifying a new susceptibility gene (AUTS2) for schizophrenia.
25205402 2015 Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.
24459036 2014 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.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24008202 2013 The role of AUTS2 in neurodevelopment and human evolution.
23437340 2013 Possible association between suicide committed under influence of ethanol and a variant in the AUTS2 gene.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23349641 2013 Function and regulation of AUTS2, a gene implicated in autism and human evolution.
23332918 2013 Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22995765 2013 Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence.
22925353 2013 A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
22872102 2013 Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
22693459 2012 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
22578776 2012 PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.
21471458 2011 Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20635338 2010 A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.
20398908 2010 Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19567891 2009 Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
19546859 2010 Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12601173 2003 Immunomic analysis of human sarcoma.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
12160723 2002 Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
9455477 1997 Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.