AutismKB 2.0

Detail Information of AutCNV0000713

1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Hispanicautism - - - - 1 - 1 Edens, 2011
Complication: epilepsy
Population: Honduras
Platform: -
Method: aCGH
Marker:-
Band:Xp11.2-p22.33
Evidences:CNVs Only Present In Patients;
Region: ChrX: 60000-56583275 (Deduced by Band)
Gain/Loss:gain
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism - - - - 1 - 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: 60000-56583275 (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 3 2 3 0 1 0 46
AutG4128 MAOA 3 0 3 0 1 0 46
AutG6792 CDKL5 0 0 1 0 1 0 36
AutG438 ASMT 1 0 3 0 1 0 34
AutG1756 DMD 0 2 0 0 2 0 28
AutG2925 GRPR 0 0 2 0 1 0 22
AutG11141 IL1RAPL1 0 0 1 0 1 0 20
AutG139411 PTCHD1 1 0 1 0 2 0 16
AutG8544 PIR 0 0 0 2 1 0 12
AutG170302 ARX 0 0 1 0 1 0 12
AutG6853 SYN1 0 0 1 0 1 0 12
AutG8242 KDM5C 0 0 1 0 1 0 12
AutG5613 PRKX 0 2 0 0 1 0 10
AutG4129 MAOB 1 0 0 1 1 0 5
AutG6303 SAT1 0 0 0 3 1 0 5
AutG7076 TIMP1 0 0 0 2 1 0 4
AutG64061 TSPYL2 0 0 0 2 1 0 4
AutG4267 CD99 0 0 0 2 1 0 4
AutG50943 FOXP3 1 0 0 0 1 0 4
AutG4281 MID1 0 0 0 1 1 0 3
AutG5475 PPEF1 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
AutG5422 POLA1 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
AutG7454 WAS 0 0 0 1 1 0 3
AutG5256 PHKA2 0 0 0 1 1 0 3
AutG9767 PHF16 0 0 0 1 1 0 3
AutG2002 ELK1 0 0 0 1 1 0 3

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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