AutismKB 2.0

What is New

    I. Data collection
    This version we add the papers from July 25,2011 to June 30, 2018. The collected log of AutismKB 2.0 is in the Figure 1.

    Figure 1:Collected log of AutismKB 2.0

    The current version contains 1,329 genes(total score > 16), 5,420 Copy Number Variations (CNVs), 11,669 single-nucleotide variations and indels(SNVs/Indels) (5,669 de novo mutations and 789 mosaic mutations), and 172 linkage regions associated with ASD. The new statistic of data is in Figure 2.

    Figure 2: Statistic of AutismKB 2.0

    II. The improvements made by the new version on the old version have the following aspects:
    We re-rank our genes using the previous ranking algorithm. We use the same benchmark dataset and get a new final weight matrix.
    Finally, we benchmarked the scoring matrix of nine categories of evidences/studies by ranking the 75% quantiles of the benchmark dataset to the highest rank (Table 1).
    CategoriesGWASCNVLinkageLow-Scale AssociationExpressionNGS De NovoNGS MosaicNGS OtherLow-Scale Gene Studies
    Weight4222110 1810

    Table 1: Final Weight Matrix

    228 genes with a total score greater than 16 were listed as core genes.

    III. The literatures with many contributions are as follows
    Dou et al. estimated that pSNMs in probands or de novo mutations inherited from parental pSNMs increased the risk of ASD by approximately 6%. See the literature for details: 28503910

Simple Query:

  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018