AutismKB

Detail Information of AutCNV0000019

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 1491 - - - - - 6709 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: 398952 - 17044800 (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
AutG952 CD38 0 0 1 1 1 1 11
AutG2580 GAK 0 0 1 0 1 1 10
AutG9948 WDR1 0 0 1 1 1 0 10
AutG8532 CPZ 0 0 1 0 1 0 9
AutG56606 SLC2A9 0 0 1 0 1 0 9
AutG26234 FBXL5 0 0 1 0 1 0 9
AutG9778 KIAA0232 0 0 1 0 1 0 9
AutG1816 DRD5 0 0 1 0 1 0 9
AutG10417 SPON2 0 0 0 3 1 1 6
AutG83888 FGFBP2 0 0 0 2 1 1 5
AutG4487 MSX1 0 0 0 3 1 0 5
AutG2868 GRK4 0 0 0 1 1 1 4
AutG27065 D4S234E 0 0 0 2 1 0 4
AutG84448 ABLIM2 0 0 0 2 1 0 4
AutG10815 CPLX1 0 0 0 1 1 1 4
AutG53834 FGFRL1 0 0 0 1 1 1 4
AutG1487 CTBP1 0 0 0 1 1 1 4
AutG152789 JAKMIP1 0 0 0 1 1 0 3
AutG116449 CLNK 0 0 0 1 1 0 3
AutG6002 RGS12 0 0 0 1 1 0 3
AutG54436 SH3TC1 0 0 0 1 1 0 3
AutG132864 CPEB2 0 0 0 1 1 0 3

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

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