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Resource:SFARI Gene: AutDB

Name: Resource:SFARI Gene: AutDB
Description: Publicly available, curated, 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.

SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility. The SFARI Gene web portal seamlessly integrates different kinds of genetic data that are being generated by research studies, and in so doing encourages the generation of new hypotheses. SFARI Gene utilizes a systems biology approach, linking information on autism candidate genes within its original "Human Gene" module to corresponding data within diverse modules such as Animal Model, Protein Interaction (PIN), Gene Scoring, and Copy Number Variant (CNV). Each ASD risk gene is classified in a specific category using a set of annotation rules developed by an Advisory Board. This database is envisioned to have immediate application for network biology analysis of molecular pathways involved in ASD pathogenesis.

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, AutDB, AutDB - An Interface to Autism Research, AutDB: a Genetic Database for Autism Spectrum Disorders
Parent Organization: Resource:SFARI - Simons Foundation Autism Research Initiative, Resource:MindSpec: Informatics for Neurodevelopmental Conditions
Supporting Agency: Resource:MindSpec: Informatics for Neurodevelopmental Conditions
Related to: Resource:NIF Data Federation, Resource:3DVC
Resource Type(s): Database, Data repository
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, molecular neuroanatomy resource, Human, Animal model, Mouse, Protein interaction, AutDB, Model, phenotype, Protein Interaction, Gene Scoring
Abbreviation: SFARI Gene
Resource: Resource
URL: https://gene.sfari.org/autdb/Welcome.do
PMID: PMID 19015121
Related condition/disease: Autism Spectrum Disorder, Autism
Availability: Public, The community can contribute to this resource.
Id: nif-0000-10427
Organism: Human, Mouse
Link to OWL / RDF: Download this content as OWL/RDF

Categories related to Resource:SFARI Gene: AutDB

Resource:NIF Integrated Manually Extracted Annotation

Curation status: Uncurated

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Notes

This page uses this default form:Resource

Old URL: http://gene.sfari.org/autdb/DbSearch.do,
Alt. URL (Mirror): http://www.mindspec.org/products/autdb/, http://www.mindspec.org/autdb.html

Contributors

Aarnaud, Akash, Memartone



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Facts about Resource:SFARI Gene: AutDBRDF feed
AbbrevSFARI Gene  +
AvailabilityPublic  +, and The community can contribute to this resource.  +
CurationStatuscurated  +
DefiningCitationhttps://gene.sfari.org/autdb/Welcome.do  +
DefinitionPublicly available, curated, database for Publicly available, curated, 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.

SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility. The SFARI Gene web portal seamlessly integrates different kinds of genetic data that are being generated by research studies, and in so doing encourages the generation of new hypotheses. SFARI Gene utilizes a systems biology approach, linking information on autism candidate genes within its original "Human Gene" module to corresponding data within diverse modules such as Animal Model, Protein Interaction (PIN), Gene Scoring, and Copy Number Variant (CNV). Each ASD risk gene is classified in a specific category using a set of annotation rules developed by an Advisory Board. This database is envisioned to have immediate application for network biology analysis of molecular pathways involved in ASD pathogenesis.

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.
ExampleImageSFARI Gene.PNG  +
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Data repository  +
Idnif-0000-10427  +
Is part ofResource:SFARI - Simons Foundation Autism Research Initiative  +, and Resource:MindSpec: Informatics for Neurodevelopmental Conditions  +
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  +, Molecular neuroanatomy resource  +, Human  +, Animal model  +, Mouse  +, Protein interaction  +, AutDB  +, Model  +, Phenotype  +, Protein Interaction  +, and Gene Scoring  +
LabelResource:SFARI Gene: AutDB  +
ModifiedDate14 May 2013  +
PMID19015121  +
Page has default formThis property is a special property in this wiki.Resource  +
RelatedToResource:NIF Data Federation  +, and Resource:3DVC  +
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  +, AutDB  +, AutDB - An Interface to Autism Research  +, and AutDB: a Genetic Database for Autism Spectrum Disorders  +