The de novo mutation list and annotation as well as the prioritized gene list are updated. Including 25,627 DNMs from 4,209 ASD trios, 1049 DNMs from 1,077 SCZ trios, 492 DNMs from 383 EE trios, 384 DNMs from 261 ID trios, and 13,709 DNMs from 2,299 controls. Users can browse the results from the webserver. Also, the data is available to download in the download page.
Recently published 4 article about neuropsychiatric DNMs (2 ASD, 1 ID and 1 EE). New version of NPdenovo is being updated.
1. "Synaptic, transcriptional and chromatin genes disrupted in autism" Silvia De Rubeis et al. Nature (2014)
2. "The contribution of de novo coding mutations to autism spectrum disorder" Ivan Iossifov et al. Nature (2014)
3. "De Novo Mutations in Moderate or Severe Intellectual Disability" Fadi F. Hamdan et al. Plos Genetics (2014)
4. "De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies" EuroEPINOMICS-RES Consortium et al. AJHG (2014)
NPdenovo is a database integrating de novo mutations of autism spectrum disorders (ASD), intellectual disability (ID), epileptic encephalopathy (EE), schizophrenia (SCZ) and unaffected siblings (Control) by whole-genome or whole-exome sequencing. NPdenovo supporting different ways to browse and search de novo mutation, neuropsychiatric diseases associated gene, enrichment of function and spatio-temporal expression in human brain. Also, NPdenovo provide many functional and useful tools to analysis neuropsychiatric and spatio-temporal transcriptome, including BLAT, overlap gene in diseases, custom extreme mutation and co-expression.
Up to now, 3,555 trios from four disorders (ASD, EE, ID and SCZ) together with the unaffected siblings/control were collected from currently available trios-based WES/WGS studies, in which 17,104 DNMs were identified. NPdenovo will be updated quarterly to provide the research community an up-to-date resource.
NPdenovo web server is a user-friendly web interface dedicated to catalog neuropsychiatric DNMs and brain expression profiles. Users can freely browse, search, analyze and download desired DNMs and their annotation through this online database.
All de novo mutations from four disorders (ASD, EE, ID and SCZ) together with the unaffected siblings/control were collected from currently available trios-based WES/WGS studies and annotated by ANNOVAR. Neocortical expression data of human brain is also collected. To make NPdenovo browse and search faster, all the data are managed by MySQL.
The NPdenovo web interface is implemented by HTML, CSS and JavaScript together with PHP and MySQL processing background data. Basic modules such as browse, search, analyze and submit are provided.
NPdenovo is a database intending to integrate de novo mutations of autism spectrum disorders (ASD), intellectual disability (ID), epileptic encephalopathy (EE), schizophrenia (SCZ) and unaffected siblings (Control) by whole-genome or whole-exome sequencing. Also, NPdenovo is supposed to provide many functional and useful tools to analysis neuropsychiatric and spatio-temporal transcriptome.