AutismKB 2.0

Detail Information of AutCNV0000143

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
MixedASD 427 238 189 - 427 500 927 Marshall, 2008
Population: -
Platform: Affymetrix 500K array
Method: SNP microarray
Marker:-
Band:7q31.1-32.2
Evidences:Denovo CNVs;
Region: Chr7: 113741049-129227770 (hg17: Chr7: 113335000-128821721)
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
AutG4233 MET 3 1 2 1 0 0 41
AutG93986 FOXP2 1 1 2 0 0 1 36
AutG7982 ST7 0 0 1 0 0 0 30
AutG389549 FEZF1 0 2 0 0 0 1 18
AutG3751 KCND2 0 1 0 0 0 1 16
AutG93664 CADPS2 0 0 1 2 1 1 16
AutG7472 WNT2 2 0 1 0 0 0 14
AutG2318 FLNC 0 0 0 1 0 1 13
AutG6561 SLC13A1 0 2 0 0 0 1 10
AutG6608 SMO 0 1 0 0 0 1 6
AutG23554 TSPAN12 0 1 0 0 0 1 6
AutG23382 AHCYL2 0 1 0 0 0 1 6
AutG29923 C7orf68 0 0 0 3 0 1 5
AutG2918 GRM8 1 0 0 0 0 1 4
AutG4698 NDUFA5 1 0 0 0 0 1 4
AutG10447 FAM3C 0 0 0 1 0 1 3
AutG64753 CCDC136 0 0 0 1 0 1 3
AutG5803 PTPRZ1 0 0 0 1 0 1 3
AutG22797 TFEC 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