AutismKB

Detail Information of AutCNV0000102

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:12q12-24.33
Evidences:Overlapping/Recurrent CNVs;
Region: Chr12: 44378800 - 130547000 (hg17: Chr12: 44378800-130547000)
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
AutG80184 CEP290 AR 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.
AutG5053 PAH AR 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.
AutG5781 PTPN11 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
AutG552 AVPR1A 2 0 2 0 1 0 22
AutG4035 LRP1 0 0 2 1 1 0 17
AutG7846 TUBA1A 0 0 2 0 1 0 16
AutG92558 CCDC64 0 2 0 0 1 1 15
AutG23426 GRIP1 1 0 1 0 1 1 13
AutG1407 CRY1 0 0 1 1 1 1 11
AutG29902 C12orf24 0 0 1 2 1 0 11
AutG1990 CELA1 0 0 1 0 1 1 10
AutG144501 KRT80 0 0 1 0 1 1 10
AutG121340 SP7 0 0 1 0 1 1 10
AutG3678 ITGA5 0 0 1 0 1 1 10
AutG23592 LEMD3 0 0 1 0 1 1 10
AutG9891 NUAK1 0 0 1 0 1 1 10
AutG9733 SART3 0 0 1 0 1 1 10
AutG400073 C12orf76 0 0 1 1 1 0 10
AutG8091 HMGA2 0 0 1 0 1 1 10
AutG23389 MED13L 0 0 1 0 1 0 9
AutG4842 NOS1 0 0 1 0 1 0 9
AutG54934 C12orf41 0 0 1 0 1 0 9
AutG9182 RASSF9 0 0 1 0 1 0 9
AutG25834 MGAT4C 0 0 1 0 1 0 9
AutG317 APAF1 0 0 1 0 1 0 9
AutG283375 SLC39A5 0 0 1 0 1 0 9
AutG84260 TCHP 0 0 1 0 1 0 9
AutG6773 STAT2 0 0 1 0 1 0 9
AutG88455 ANKRD13A 0 0 1 0 1 0 9
AutG4666 NACA 0 0 1 0 1 0 9
AutG28981 IFT81 0 0 1 0 1 0 9
AutG4640 MYO1A 0 0 1 0 1 0 9
AutG51434 ANAPC7 0 0 1 0 1 0 9
AutG51184 GPN3 0 0 1 0 1 0 9
AutG51699 VPS29 0 0 1 0 1 0 9
AutG160760 PPTC7 0 0 1 0 1 0 9
AutG84329 HVCN1 0 0 1 0 1 0 9
AutG160762 CCDC63 0 0 1 0 1 0 9
AutG4193 MDM2 0 0 1 0 1 0 9
AutG196441 ZFC3H1 0 0 1 0 1 0 9
AutG84125 LRRIQ1 0 0 1 0 1 0 9
AutG4922 NTS 0 0 1 0 1 0 9
AutG10024 TROAP 0 0 1 0 1 0 9
AutG144406 WDR66 0 0 1 0 1 0 9
AutG160419 C12orf50 0 0 1 0 1 0 9
AutG8562 DENR 0 0 1 0 1 0 9
AutG121457 IKBIP 0 0 1 0 1 0 9
AutG6601 SMARCC2 0 0 1 0 1 0 9
AutG32 ACACB 0 0 1 0 1 0 9
AutG51561 IL23A 0 0 1 0 1 0 9
AutG9815 GIT2 0 0 1 0 1 0 9
AutG488 ATP2A2 0 0 1 0 1 0 9
AutG4665 NAB2 0 0 1 0 1 0 9
AutG10094 ARPC3 0 0 1 0 1 0 9
AutG9958 USP15 0 0 1 0 1 0 9
AutG144715 RAD9B 0 0 1 0 1 0 9
AutG57522 SRGAP1 0 0 1 0 1 0 9
AutG79600 TCTN1 0 0 1 0 1 0 9
AutG5501 PPP1CC 0 0 1 0 1 0 9
AutG3458 IFNG 0 0 1 0 1 0 9
AutG121278 TPH2 2 0 0 0 1 0 8
AutG79158 GNPTAB 0 1 0 0 1 0 8
AutG694 BTG1 0 0 0 3 1 0 5
AutG3848 KRT1 0 0 0 2 1 1 5
AutG1466 CSRP2 0 0 0 2 1 0 4
AutG8835 SOCS2 0 0 0 1 1 1 4
AutG23457 ABCB9 0 0 0 2 1 0 4
AutG3853 KRT6A 0 0 0 1 1 1 4
AutG3695 ITGB7 0 0 0 1 1 1 4
AutG4604 MYBPC1 0 0 0 2 1 0 4
AutG7184 HSP90B1 0 0 0 1 1 1 4
AutG440101 FLJ12825 0 0 0 1 1 1 4
AutG5992 RFX4 0 0 0 1 1 1 4
AutG121551 BTBD11 0 0 0 1 1 1 4
AutG55530 SVOP 0 0 0 2 1 0 4
AutG26353 HSPB8 0 0 0 1 1 1 4
AutG23017 FAIM2 0 0 0 1 1 1 4
AutG9498 SLC4A8 0 0 0 1 1 1 4
AutG55785 FGD6 0 0 0 1 1 1 4
AutG9119 KRT75 0 0 0 1 1 1 4
AutG5204 PFDN5 0 0 0 1 1 1 4
AutG7786 MAP3K12 0 0 0 1 1 1 4
AutG25946 ZNF385A 0 0 0 1 1 1 4
AutG9478 CABP1 0 0 0 1 1 0 3
AutG23416 KCNH3 0 0 0 1 1 0 3
AutG605 BCL7A 0 0 0 1 1 0 3
AutG4060 LUM 0 0 0 1 1 0 3
AutG65117 RSRC2 0 0 0 1 1 0 3
AutG7112 TMPO 0 0 0 1 1 0 3
AutG10959 TMED2 0 0 0 1 1 0 3
AutG949 SCARB1 0 0 0 1 1 0 3
AutG6171 RPL41 0 0 0 1 1 0 3
AutG2583 B4GALNT1 0 0 0 1 1 0 3
AutG4938 OAS1 0 0 0 1 1 0 3
AutG5801 PTPRR 0 0 0 1 1 0 3
AutG54997 TESC 0 0 0 1 1 0 3
AutG114882 OSBPL8 0 0 0 1 1 0 3
AutG387856 C12orf68 0 0 0 1 1 0 3
AutG10376 TUBA1B 0 0 0 1 1 0 3
AutG5319 PLA2G1B 0 0 0 1 1 0 3
AutG6249 CLIP1 0 0 0 1 1 0 3
AutG196383 RILPL2 0 0 0 1 1 0 3
AutG80212 CCDC92 0 0 0 1 1 0 3
AutG400 ARL1 0 0 0 1 1 0 3
AutG5153 PDE1B 0 0 0 1 1 0 3
AutG27165 GLS2 0 0 0 1 1 0 3
AutG6866 TAC3 0 0 0 1 1 0 3
AutG3798 KIF5A 0 0 0 1 1 0 3
AutG80018 NAA25 0 0 0 1 1 0 3
AutG27345 KCNMB4 0 0 0 1 1 0 3
AutG8437 RASAL1 0 0 0 1 1 0 3

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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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