AutismKB 2.0

Detail Information of AutCNV0000071

1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 1491 - - - - - 0 Szatmari, 2007
Population: Europe, North America
Platform: Affymetrix 10K v2 SNP array
Method: SNP microarray
Marker:-
Band:6p22.3-25.2
Evidences:Overlapping/Recurrent CNVs;
Region: Chr6: 3856431-18486521 (hg17: Chr6: 3801430-18594500)
Gain/Loss:loss
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
No data!
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG3720 JARID2 1 2 0 0 0 0 10
AutG81567 TXNDC5 0 1 0 2 1 0 8
AutG9521 EEF1E1 0 0 0 1 1 0 3
AutG6239 RREB1 0 0 0 1 1 0 3
AutG221692 PHACTR1 0 0 0 2 0 0 2
AutG2162 F13A1 0 0 0 2 0 0 2
AutG54438 GFOD1 0 0 0 1 0 0 1
AutG51299 NRN1 0 0 0 1 0 0 1
AutG63933 CCDC90A 0 0 0 1 0 0 1
AutG29116 MYLIP 0 0 0 1 0 0 1
AutG8899 PRPF4B 0 0 0 1 0 0 1

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