AutismKB 2.0: a Knowledgebase for the Genetic Evidence of Autism Spectrum Disorder

Overview

Journal Database (Oxford)

Specialty Biology

Date 2018 Oct 20

PMID 30339214

Citations 27

Authors

Changhong Yang

Jiarui Li

Qixi Wu

Xiaoxu Yang

August Yue Huang

Jie Zhang

Adam Yongxin Ye

Yanmei Dou

Linlin Yan

Wei-Zhen Zhou

Lei Kong

Meng Wang

Chen Ai

Dechang Yang

Liping Wei

Affiliations

Soon will be listed here.

Abstract

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic contributions. To provide a comprehensive resource for the genetic evidence of ASD, we have updated the Autism KnowledgeBase (AutismKB) to version 2.0. AutismKB 2.0 integrates multiscale genetic data on 1379 genes, 5420 copy number variations and structural variations, 11 669 single-nucleotide variations or small insertions/deletions (SNVs/indels) and 172 linkage regions. In particular, AutismKB 2.0 highlights 5669 de novo SNVs/indels due to their significant contribution to ASD genetics and includes 789 mosaic variants due to their recently discovered contributions to ASD pathogenesis. The genes and variants are annotated extensively with genetic evidence and clinical evidence. To help users fully understand the functional consequences of SNVs and small indels, we provided comprehensive predictions of pathogenicity with iFish, SIFT, Polyphen etc. To improve user experiences, the new version incorporates multiple query methods, including simple query, advanced query and batch query. It also functionally integrates two analytical tools to help users perform downstream analyses, including a gene ranking tool and an enrichment analysis tool, KOBAS. AutismKB 2.0 is freely available and can be a valuable resource for researchers.

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