AutismKB

Detail Information of AutCNV0000018

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 751 - - - 2252 23502 25754 Weiss, 2008
Population: USA, Ireland
Platform: Affymetrix 5.0 array, Affymetrix 500K array, Agilent array, Illumina Human-Hap300 BeadChip
Method: aCGH, SNP microarray
Marker:-
Band:16p11.2
Evidences:Overlapping/Recurrent CNVs; Denovo CNVs;
Region: Chr16: 27600000 - 34400000 (Deduced by Band)
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
AutG26470 SEZ6L2 0 0 3 0 3 0 27
AutG5595 MAPK3 0 0 3 0 3 0 27
AutG9344 TAOK2 0 0 1 1 3 0 14
AutG8479 HIRIP3 0 0 1 0 3 0 13
AutG8448 DOC2A 0 0 1 0 3 0 13
AutG78994 PRR14 0 0 1 1 2 0 12
AutG9739 SETD1A 0 0 1 1 2 0 12
AutG3684 ITGAM 0 0 1 1 2 0 12
AutG115509 ZNF689 0 0 1 1 2 0 12
AutG9274 BCL7C 0 0 1 0 2 0 11
AutG283932 NCRNA00095 0 0 1 0 2 0 11
AutG93129 ORAI3 0 0 1 0 2 0 11
AutG80270 HSD3B7 0 0 1 0 2 0 11
AutG6810 STX4 0 0 1 0 2 0 11
AutG9726 ZNF646 0 0 1 0 2 0 11
AutG10295 BCKDK 0 0 1 0 2 0 11
AutG5652 PRSS8 0 0 1 0 2 0 11
AutG2521 FUS 0 0 1 0 2 0 11
AutG260434 PYDC1 0 0 1 0 2 0 11
AutG3687 ITGAX 0 0 1 0 2 0 11
AutG1339 COX6A2 0 0 1 0 2 0 11
AutG7041 TGFB1I1 0 0 1 0 2 0 11
AutG64755 C16orf58 0 0 1 0 2 0 11
AutG23247 KIAA0556 0 0 1 0 2 0 11
AutG100132341 KIAA0664L3 0 0 1 0 2 0 11
AutG10308 ZNF267 0 0 1 0 2 0 11
AutG386757 SLC6A10P 0 0 1 0 2 0 11
AutG92595 ZNF764 0 0 1 0 2 0 11
AutG146540 ZNF785 0 0 1 0 2 0 11
AutG10847 SRCAP 0 0 1 0 2 0 11
AutG90835 C16orf93 0 0 1 0 2 0 11
AutG1489 CTF1 0 0 1 0 2 0 11
AutG54620 FBXL19 0 0 1 0 2 0 11
AutG112755 STX1B 0 0 1 0 2 0 11
AutG79759 ZNF668 0 0 1 0 2 0 11
AutG79001 VKORC1 0 0 1 0 2 0 11
AutG84148 MYST1 0 0 1 0 2 0 11
AutG146547 PRSS36 0 0 1 0 2 0 11
AutG29108 PYCARD 0 0 1 0 2 0 11
AutG3681 ITGAD 0 0 1 0 2 0 11
AutG79798 ARMC5 0 0 1 0 2 0 11
AutG6524 SLC5A2 0 0 1 0 2 0 11
AutG51327 AHSP 0 0 1 0 2 0 11
AutG124411 ZNF720 0 0 1 0 2 0 11
AutG440362 HERC2P4 0 0 1 0 2 0 11
AutG146542 ZNF688 0 0 1 0 2 0 11
AutG64319 FBRS 0 0 1 0 2 0 11
AutG5261 PHKG2 0 0 1 0 2 0 11
AutG9810 RNF40 0 0 1 0 2 0 11
AutG146395 GSG1L 0 1 0 0 2 0 10
AutG27040 LAT 1 0 0 0 2 0 7
AutG112476 PRRT2 0 0 0 1 3 0 7
AutG22928 SEPHS2 0 0 0 1 2 0 5

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  (e.g. CDH8)

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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