AutismKB

Detail Information of AutCNV0000671

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 1 - 1 Vazna, 2010
Complication: MR
Population: Czech
Platform: Nimblegen custom array
Method: aCGH
Marker:-
Band:Xp22.1-p22.3
Evidences:CNVs Only Present In Patients;
Region: ChrX: 6654160 - 24069365
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
AutG4281 MID1 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.
AutG8905 AP1S2 XL Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
AutG4810 NHS 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.
AutG6792 CDKL5 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.
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
AutG2925 GRPR 0 0 3 0 1 0 23
AutG6197 RPS6KA3 0 0 2 0 1 0 16
AutG1183 CLCN4 0 0 1 0 1 0 9
AutG9758 FRMPD4 0 0 1 0 1 0 9
AutG2742 GLRA2 0 0 1 0 1 0 9
AutG30011 SH3KBP1 0 0 1 0 1 0 9
AutG357 SHROOM2 0 0 1 0 1 0 9
AutG2824 GPM6B 0 0 1 0 1 0 9
AutG6792 CDKL5 0 0 1 0 1 0 9
AutG22866 CNKSR2 0 0 1 0 1 0 9
AutG6303 SAT1 0 0 0 3 1 0 5
AutG8544 PIR 0 0 0 2 1 0 4
AutG5475 PPEF1 0 0 0 1 1 0 3
AutG10549 PRDX4 0 0 0 1 1 0 3
AutG4281 MID1 0 0 0 1 1 0 3
AutG5256 PHKA2 0 0 0 1 1 0 3
AutG256714 MAP7D2 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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