AutismKB 2.0

Detail Information of AutCNV0005127

1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
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
Han ChineseASD - - - - 335 1093 602 Yin CL, 2016
Population: Taiwan
Platform: Affymetrix Genome-Wide Human SNP Array 6.0
Method: GWAS
Marker:-
Band:6q26
Evidences:CNVs Only Present In Patients;
Region: Chr6: 162807682-162840211
Gain/Loss:gain
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Han ChineseASD - - - - 301 301 602 Yin CL, 2016
Population: Taiwan
Platform: Affymetrix Genome-Wide Human SNP Array 6.0
Method: GWAS
Marker:-
Band:6q26
Evidences:CNVs Only Present In Patients;
Region: Chr6: 162807682-162840211
Gain/Loss:gain
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
AutG5071 PARK2 0 0 1 0 1 0 12

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