AutismKB 2.0

Detail Information of AutCNV0000019

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:4p15.32-16.3
Evidences:CNVs Overlapping With ACRD;
Region: Chr4: 408952-17368531 (hg17: Chr4: 398952-17044800)
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
AutG6002 RGS12 0 0 0 1 0 0 21
AutG10417 SPON2 0 0 0 3 1 1 17
AutG952 CD38 0 0 1 1 0 1 13
AutG152789 JAKMIP1 0 0 0 1 0 0 11
AutG9948 WDR1 0 0 0 1 0 0 11
AutG683 BST1 1 0 0 0 0 1 5
AutG83888 FGFBP2 0 0 0 2 0 1 4
AutG10815 CPLX1 0 0 0 1 0 1 3
AutG2868 GRK4 0 0 0 1 0 1 3
AutG54436 SH3TC1 0 0 0 1 1 0 3
AutG53834 FGFRL1 0 0 0 1 0 1 3
AutG1487 CTBP1 0 0 0 1 0 1 3
AutG4487 MSX1 0 0 0 3 0 0 3
AutG27065 D4S234E 0 0 0 2 0 0 2
AutG84448 ABLIM2 0 0 0 2 0 0 2
AutG116449 CLNK 0 0 0 1 0 0 1
AutG132864 CPEB2 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