AutismKB

Detail Information of AutCNV0000727

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 223 - 223 Bremer, 2011
Population: -
Platform: Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays
Method: aCGH
Marker:-
Band:Xq28
Evidences:CNVs Only Present In Patients;
Region: ChrX: 152793677 - 153158866
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
AutG3897 L1CAM XL Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
AutG4204 MECP2 XL Level 4: The disorder is a generally acknowledged ASD related disorder.
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
AutG4204 MECP2 1 0 3 0 1 0 26
AutG3654 IRAK1 0 0 1 0 1 0 9
AutG3054 HCFC1 0 0 1 0 1 0 9
AutG393 ARHGAP4 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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