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AutDB

Curated public database for autism research built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD. New gene submissions are welcome. Modules: * Human Gene: thoroughly annotated list of genes that have been studied in the context of autism, with information on the genes themselves, relevant references from the literature, and the nature of the evidence. Uniquely, SFARI Gene incorporates information on both common and rare variants. * Animal Model: information about lines of genetically modified mice that represent potential models of autism. This information includes the nature of the targeting construct, the background strain and, most importantly, a thorough summary of the phenotypic features of the mice that are most relevant to autism. * Protein Interaction (PIN): compilation of all known direct protein interactions for those gene products implicated in autism. It presents both graphical and tabular views of interactomes, highlighting connections between autism candidate genes. Each protein interaction is manually verified by consultation with the primary reference. * Copy Number Variant (CNV): a parallel resource providing genetic information about all known copy number variants linked to autism. * Gene Scoring: includes a "score" for each autism candidate gene, based on an assessment of the strength of human genetic evidence.


Details

  • Resource Type: Resource, service resource, data or information resource, data repository, storage service resource, database
  • Keywords: duplication, gene, genetic syndrome, genetic variation, allelic, autism, autism spectrum disorder, deletion, molecular function, molecular genetics, single-gene disruption, genetic association, genetic variation, allelic variant, copy number variant, cytogenetic, disruption, idiopathic asd, monogenic, mutation, polymorphism, human, animal model, mouse, protein interaction, sfari gene, phenotype, protein interaction, gene scoring, systems biology
  • Resource ID: SCR_001872
  • Proper Citation: (AutDB, RRID:SCR_001872)
  • Parent Organization: SFARI - Simons Foundation Autism Research Initiative
  • Related Condition: Autism Spectrum Disorder, Autism
  • Funding Agency: MindSpec: Informatics for Neurodevelopmental Conditions
  • Relation: related to: Integrated Manually Extracted Annotation, listed by: NIF Data Federation, 3DVC, Monarch Initiative
  • Reference: PMID:19015121
  • Website Status: Last checked down
  • Alternate IDs: nif-0000-02587
  • Alternate URLs: http://www.mindspec.org/products/autdb/, https://gene.sfari.org/autdb/
  • Old URLs:
  • v_uuid: 2860ee37-e354-5691-b514-f6e50b61c370
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