AutismKB

Detail Information of AutCNV0000028

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:15q21.2-26.3
Evidences:CNVs Overlapping With ACRD;
Region: Chr15: 49345700 - 100170000 (hg17: Chr15: 49345700-100170000)
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
AutG5604 MAP2K1 AD 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
AutG8128 ST8SIA2 0 3 0 0 1 1 21
AutG84465 MEGF11 0 0 2 0 1 0 16
AutG79811 SLTM 0 2 0 0 1 1 15
AutG9915 ARNT2 1 0 1 0 1 0 12
AutG9899 SV2B 0 0 1 2 1 1 12
AutG6095 RORA 0 0 1 0 1 1 10
AutG1106 CHD2 0 0 1 0 1 1 10
AutG79705 LRRK1 0 0 1 1 1 0 10
AutG23312 DMXL2 0 0 1 0 1 1 10
AutG54629 FAM63B 0 0 1 0 1 1 10
AutG56963 RGMA 0 0 1 0 1 1 10
AutG348093 RBPMS2 0 0 1 1 1 0 10
AutG29106 SCG3 0 0 1 0 1 1 10
AutG81488 GRINL1A 0 0 1 0 1 1 10
AutG84191 FAM96A 0 0 1 0 1 0 9
AutG79856 SNX22 0 0 1 0 1 0 9
AutG53944 CSNK1G1 0 0 1 0 1 0 9
AutG9325 TRIP4 0 0 1 0 1 0 9
AutG4947 OAZ2 0 0 1 0 1 0 9
AutG80119 PIF1 0 0 1 0 1 0 9
AutG51324 SPG21 0 0 1 0 1 0 9
AutG54962 TIPIN 0 0 1 0 1 0 9
AutG10302 SNAPC5 0 0 1 0 1 0 9
AutG22801 ITGA11 0 0 1 0 1 0 9
AutG54913 RPP25 0 0 1 0 1 0 9
AutG6642 SNX1 0 0 1 0 1 0 9
AutG5479 PPIB 0 0 1 0 1 0 9
AutG9768 KIAA0101 0 0 1 0 1 0 9
AutG23060 ZNF609 0 0 1 0 1 0 9
AutG348094 ANKDD1A 0 0 1 0 1 0 9
AutG123263 MTFMT 0 0 1 0 1 0 9
AutG8554 PIAS1 0 0 1 0 1 0 9
AutG57611 ISLR2 0 0 1 0 1 0 9
AutG1544 CYP1A2 0 0 1 0 1 0 9
AutG10588 MTHFS 0 0 1 0 1 0 9
AutG8120 AP3B2 0 0 1 0 1 0 9
AutG55070 DET1 0 0 1 0 1 0 9
AutG4916 NTRK3 2 0 0 0 1 0 8
AutG9236 CCPG1 0 0 0 2 1 1 5
AutG145773 FAM81A 0 0 0 2 1 1 5
AutG56204 KIAA1370 0 0 0 2 1 1 5
AutG4240 MFGE8 0 0 0 2 1 1 5
AutG51065 RPS27L 0 0 0 1 1 1 4
AutG7026 NR2F2 0 0 0 1 1 1 4
AutG4644 MYO5A 0 0 0 1 1 1 4
AutG51187 RSL24D1 0 0 0 1 1 1 4
AutG64782 AEN 0 0 0 1 1 1 4
AutG2242 FES 0 0 0 1 1 1 4
AutG400451 FAM174B 0 0 0 1 1 1 4
AutG54832 VPS13C 0 0 0 1 1 1 4
AutG771 CA12 0 0 0 1 1 1 4
AutG91947 ARRDC4 0 0 0 1 1 1 4
AutG220 ALDH1A3 0 0 0 2 1 0 4
AutG5604 MAP2K1 0 0 0 2 1 0 4
AutG5873 RAB27A 0 0 0 1 1 1 4
AutG302 ANXA2 0 0 0 1 1 1 4
AutG145748 LYSMD4 0 0 0 1 1 0 3
AutG9543 IGDCC3 0 0 0 1 1 0 3
AutG1583 CYP11A1 0 0 0 1 1 0 3
AutG54939 COMMD4 0 0 0 1 1 0 3
AutG1512 CTSH 0 0 0 1 1 0 3
AutG597 BCL2A1 0 0 0 1 1 0 3
AutG6218 RPS17 0 0 0 1 1 0 3
AutG123720 WHAMM 0 0 0 1 1 0 3
AutG192683 SCAMP5 0 0 0 1 1 0 3
AutG23205 ACSBG1 0 0 0 1 1 0 3
AutG5151 PDE8A 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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