AutismKB 2.0

Detail Information of AutLD0000147

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 1 - 1 - 7 22 29 Allen-Brady, 2008
Country: -
Marker Number: 11660
Platform: Affymetrix GeneChip Human Mapping 10K array
Method: SNP-based genomic screen
Software Algorithm: -
Band: 20q11.21-13.12
Marker: -
Region: Chr20: 28400000 - 45800000
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
AutG3787 KCNS1 0 0 0 1 1 1 23
AutG51614 ERGIC3 0 0 0 1 1 1 13
AutG11122 PTPRT 0 0 0 1 1 1 13
AutG51006 SLC35C2 0 0 0 1 1 1 13
AutG64405 CDH22 0 2 0 0 1 1 10
AutG6185 RPN2 0 0 0 2 1 1 4
AutG100 ADA 1 0 0 0 1 1 4
AutG7529 YWHAB 1 0 0 0 1 1 4
AutG7052 TGM2 0 0 0 1 1 1 3
AutG26051 PPP1R16B 0 0 0 1 1 1 3
AutG84969 TOX2 0 0 0 1 1 1 3
AutG140730 RIMS4 0 0 0 1 1 1 3
AutG6789 STK4 0 0 0 1 1 1 3
AutG6385 SDC4 0 0 0 1 1 1 3
AutG5476 CTSA 0 0 0 1 1 1 3
AutG2139 EYA2 0 0 0 1 1 1 3
AutG63941 NECAB3 0 0 0 1 1 1 3
AutG25939 SAMHD1 0 0 0 1 1 1 3
AutG6714 SRC 0 0 0 1 1 1 3
AutG140679 SLC32A1 0 0 0 1 1 1 3
AutG55861 DBNDD2 0 0 0 1 1 1 3
AutG5360 PLTP 0 0 0 1 1 1 3
AutG8202 NCOA3 0 0 0 1 1 1 3

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