AutismKB

Detail Information of AutCNV0000713

1. Sample AND Method Top
1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Hispanicautism - - - - 1 - - Edens, 2011
Complication: epilepsy
Population: Honduras
Platform: -
Method: aCGH
Marker:-
Band:Xp11.2-p22.33
Evidences:CNVs Only Present In Patients;
Region: ChrX: 0 - 56600000 (Deduced by Band)
Gain/Loss:gain
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism - - - - 1 - - Edens, 2011
Complication: epilepsy
Population: Austria
Platform: -
Method: FISH, aCGH
Marker:-
Band:Xp11.2-p22.33
Evidences:CNVs Only Present In Patients;
Region: ChrX: 0 - 56600000 (Deduced by Band)
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
AutG57502 NLGN4X 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.
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.
AutG170302 ARX 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.
AutG11141 IL1RAPL1 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.
AutG1756 DMD 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.
AutG5009 OTC XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG8573 CASK XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG4693 NDP 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.
AutG641339 ZNF674 XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG6853 SYN1 XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG347344 ZNF81 XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG24140 FTSJ1 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.
AutG10084 PQBP1 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.
AutG778 CACNA1F 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.
AutG8242 KDM5C XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG23096 IQSEC2 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.
AutG8243 SMC1A XL Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
AutG23133 PHF8 XL Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
AutG2245 FGD1 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
AutG57502 NLGN4X 1 2 3 0 1 0 38
AutG4128 MAOA 1 0 3 0 1 0 26
AutG438 ASMT 1 0 3 0 1 0 26
AutG11141 IL1RAPL1 0 0 3 0 1 0 23
AutG2925 GRPR 0 0 3 0 1 0 23
AutG5613 PRKX 0 2 1 0 1 0 21
AutG778 CACNA1F 0 0 2 0 1 0 16
AutG8242 KDM5C 0 0 2 0 1 0 16
AutG6197 RPS6KA3 0 0 2 0 1 0 16
AutG170302 ARX 0 0 2 0 1 0 16
AutG8573 CASK 0 0 2 0 1 0 16
AutG1756 DMD 0 2 0 0 1 0 14
AutG7076 TIMP1 0 0 1 2 1 0 11
AutG2002 ELK1 0 0 1 1 1 0 10
AutG4129 MAOB 0 0 1 1 1 0 10
AutG22866 CNKSR2 0 0 1 0 1 0 9
AutG83604 TMEM47 0 0 1 0 1 0 9
AutG6990 DYNLT3 0 0 1 0 1 0 9
AutG10159 ATP6AP2 0 0 1 0 1 0 9
AutG1654 DDX3X 0 0 1 0 1 0 9
AutG6853 SYN1 0 0 1 0 1 0 9
AutG3750 KCND1 0 0 1 0 1 0 9
AutG54328 GPR173 0 0 1 0 1 0 9
AutG357 SHROOM2 0 0 1 0 1 0 9
AutG65267 WNK3 0 0 1 0 1 0 9
AutG2245 FGD1 0 0 1 0 1 0 9
AutG2824 GPM6B 0 0 1 0 1 0 9
AutG7216 TRO 0 0 1 0 1 0 9
AutG6792 CDKL5 0 0 1 0 1 0 9
AutG9468 PCYT1B 0 0 1 0 1 0 9
AutG7102 TSPAN7 0 0 1 0 1 0 9
AutG8239 USP9X 0 0 1 0 1 0 9
AutG92745 SLC38A5 0 0 1 0 1 0 9
AutG10013 HDAC6 0 0 1 0 1 0 9
AutG56850 GRIPAP1 0 0 1 0 1 0 9
AutG89801 PPP1R3F 0 0 1 0 1 0 9
AutG23096 IQSEC2 0 0 1 0 1 0 9
AutG1183 CLCN4 0 0 1 0 1 0 9
AutG90121 TSR2 0 0 1 0 1 0 9
AutG9758 FRMPD4 0 0 1 0 1 0 9
AutG54552 GNL3L 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
AutG6303 SAT1 0 0 0 3 1 0 5
AutG8544 PIR 0 0 0 2 1 0 4
AutG4267 CD99 0 0 0 2 1 0 4
AutG64061 TSPYL2 0 0 0 2 1 0 4
AutG5422 POLA1 0 0 0 1 1 0 3
AutG9767 PHF16 0 0 0 1 1 0 3
AutG7454 WAS 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
AutG10549 PRDX4 0 0 0 1 1 0 3
AutG1536 CYBB 0 0 0 1 1 0 3
AutG26823 RNU12-2P 0 0 0 1 1 0 3
AutG5475 PPEF1 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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