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Database Commons - AutismKB

AutismKB

Citations: 74

z-index 8.88

Short name AutismKB
Full name
Description AutismKB is an evidence-based knowledgebase of ASD genetics. The current version contains 3075 genes (99 syndromic autism related genes and 3022 non-syndromic autism related genes), 4964 Copy Number Variations (CNVs) and 158 linkage regions associated with ASD.
URL http://autismkb.cbi.pku.edu.cn/
Year founded 2011
Last update & version 5/25/2015    v1.0
Availability Free to all users
University/Institution hosted Peking University
Address Beijing,100871,P.R. China
City Beijing
Province/State
Country/Region China
Contact name Liping Wei
Contact email weilp@mail.cbi.pku.edu.cn
Data type(s)
Major organism(s)
Keyword(s)
  • ASD
  • autism spectrum disorder
Publication(s)
  • AutismKB: an evidence-based knowledgebase of autism genetics. [PMID: 22139918]

    Li-Ming Xu, Jia-Rui Li, Yue Huang, Min Zhao, Xing Tang, Liping Wei
    Nucleic acids research 2012:40(Database issue)
    74 Citations (Google Scholar as of 2016-01-23)

    Abstract: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 0.9-2.6%. Twin studies showed a heritability of 38-90%, indicating strong genetic contributions. Yet it is unclear how many genes have been associated with ASD and how strong the evidence is. A comprehensive review and analysis of literature and data may bring a clearer big picture of autism genetics. We show that as many as 2193 genes, 2806 SNPs/VNTRs, 4544 copy number variations (CNVs) and 158 linkage regions have been associated with ASD by GWAS, genome-wide CNV studies, linkage analyses, low-scale genetic association studies, expression profiling and other low-scale experimental studies. To evaluate the evidence, we collected metadata about each study including clinical and demographic features, experimental design and statistical significance, and used a scoring and ranking approach to select a core data set of 434 high-confidence genes. The genes mapped to pathways including neuroactive ligand-receptor interaction, synapse transmission and axon guidance. To better understand the genes we parsed over 30 databases to retrieve extensive data about expression patterns, protein interactions, animal models and pharmacogenetics. We constructed a MySQL-based online database and share it with the broader autism research community at http://autismkb.cbi.pku.edu.cn, supporting sophisticated browsing and searching functionalities.

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Accessibility

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Tags

Disease DNA
Homo sapiens
ASD autism spectrum disorder

Record metadata

  • Created on: 2015-06-20
  • Curated by:
    • Mengwei Li [2016-03-31]
    • Mengwei Li [2016-03-28]
    • Mengwei Li [2015-11-28]
    • Lina Ma [2015-06-29]
    • Mengwei Li [2015-06-26]
Stats