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Resource:SFARI Gene: AutDB

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

Categories related to Resource:SFARI Gene: AutDB

Resource:Integrated Manually Extracted Annotation

Curation status: Curated

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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, Ccdbuser, 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  +
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.
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  +, Human  +, Animal model  +, Mouse  +, Protein interaction  +, AutDB  +, Phenotype  +, Protein Interaction  +, Gene Scoring  +, and Systems biology  +
LabelResource:SFARI Gene: AutDB  +
ModifiedDate9 August 2013  +
PMID19015121  +
Page has default formThis property is a special property in this wiki.Resource  +
RelatedToResource:NIF Data Federation  +, Resource:3DVC  +, and Resource:Monarch Initiative  +
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  +