AutismKB 2.0

Advanced Query



For Genes For CNVs For Linkage Regions For References

Search for Genes:




ID:  (e.g.CNTNAP2, kinase, 26047, ENSG00000174469, CNTP2_HUMAN)

Gene Ontology search:  (e.g. GO:0005886, centrosome)

CNV/Linkage ID:  (e.g. AutCNV0000411, AutLD0000001)

Location(bp): Chromosome: Start: End: (e.g. Chr7:110,000,000-115,000,000 )

Evidence Score: Score >= AND Score<=

Reference: PubMed ID:  (e.g. 11840513)

Ethnic:

Caucasian Caucasian (non-Hispanic) Asian African Mixed Not mentioned

Result in this Ethnic:


    

Search for CNVs:




CNV ID:  (e.g. AutCNV0000411)

ID:  (e.g. CNTNAP2, 26047, ENSG00000174469, CNTP2_HUMAN)

Location(bp): Chromosome: Start: End: (e.g. Chr7:110,000,000-115,000,000 )

Reference: PubMed ID:  (e.g. 19845972)

Evidence Types:

CNVs Only Present In Patients Denovo CNVs Overlapping/Recurrent CNVs

CNVs Overlapping With ACRD CNVs Not Present In Control Significant Enriched CNVs Others

Methods:

aCGH SNP Microarray FISH STS mapping Chromosomal analysis of G-band

Ethnic:

Caucasian Hispanic Asian Mixed Not mentioned


    

Search for Linkage Regions:




linkage ID:  (e.g. AutLD0000001)

ID:  (e.g. CNTNAP2, 26047, ENSG00000174469, CNTP2_HUMAN)

Location(bp): Chromosome: Start: End: (e.g. Chr7:110,000,000-135,000,000 )

Reference: PubMed ID:  (e.g. 11840513)

Methods: Microsatellite-based genomic screen SNP-based genomic screen

Ethnic:

Caucasian Not mentioned


    


Search for References:




Search: in     (e.g. neuroligin)

Journal:

Author:   (e.g. Jamain)

PubMed ID:   (e.g. 12669065)

Year of Publication: From to

    

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018