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Resource:AutDB

Name: Resource:AutDB
Description: 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.
Other Name(s): Simons Foundation Autism Research Initiative Gene: Autism Database, SFARI Gene, AutDB - An Interface to Autism Research, AutDB: a Genetic Database for Autism Spectrum Disorders
Abbreviation: AutDB
Parent Organization: Resource:MindSpec: Informatics for Neurodevelopmental Conditions, Resource:SFARI - Simons Foundation Autism Research Initiative
Supporting Agency: Resource:MindSpec: Informatics for Neurodevelopmental Conditions
Resource Type(s): Database, Data repository
Resource: Resource
URL: http://autism.mindspec.org/autdb/
Alt. URL(s): http://www.mindspec.org/products/autdb/, https://gene.sfari.org/autdb/
*Id: nif-0000-02587
PMID: PMID 19015121
Related condition/disease: Autism Spectrum Disorder, Autism
Listed By: Resource:NIF Data Federation, Resource:3DVC, Resource:Monarch Initiative
Availability: Public, The community can contribute to this resource, Acknowledgement requested
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
Organism: Human, Mouse
Link to OWL / RDF: Download this content as OWL/RDF

Categories related to Resource:AutDB

Resource:Integrated Manually Extracted Annotation

Curation status: Curated

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Notes

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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.

Facts about Resource:AutDBRDF feed
AbbrevAutDB  +
AltURLhttp://www.mindspec.org/products/autdb/  +, and https://gene.sfari.org/autdb/  +
AvailabilityPublic  +, The community can contribute to this resource  +, and Acknowledgement requested  +
CurationStatuscurated  +
DefiningCitationhttp://autism.mindspec.org/autdb/  +
DefinitionCurated public database for autism researc 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. of the strength of human genetic evidence.
ExampleImageAutDB.PNG  +
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Data repository  +
Idnif-0000-02587  +
Is part ofResource:MindSpec: Informatics for Neurodevelopmental Conditions  +, and Resource:SFARI - Simons Foundation Autism Research Initiative  +
KeywordsDuplication  +, Gene  +, Genetic syndrome  +, Genetic variation  +, Allelic  +, Autism  +, Autism Spectrum Disorder  +, Deletion  +, Molecular function  +, Molecular genetics  +, Single-gene disruption  +, Genetic association  +, 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  +, and Systems biology  +
LabelResource:AutDB  +
ListedbyResource:NIF Data Federation  +, Resource:3DVC  +, and Resource:Monarch Initiative  +
ModifiedDate23 September 2014  +
PMID19015121  +
Page has default formThis property is a special property in this wiki.Resource  +
Related diseaseAutism Spectrum Disorder  +, and Autism  +
SpeciesHuman  +, and Mouse  +
SuperCategoryResource  +
Supporting AgencyResource:MindSpec: Informatics for Neurodevelopmental Conditions  +
SynonymSimons Foundation Autism Research Initiative Gene: Autism Database  +, SFARI Gene  +, AutDB - An Interface to Autism Research  +, and AutDB: a Genetic Database for Autism Spectrum Disorders  +