AutismKB 2.0

Detail Information of AutCNV0000714

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:Xp11.22-p11.23
Evidences:CNVs Only Present In Patients;
Region: ChrX: 47415056-54683275 (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:Xp11.22-p11.23
Evidences:CNVs Only Present In Patients;
Region: ChrX: 47415056-54683275 (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
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
AutG6853 SYN1 0 0 1 0 1 0 12
AutG8242 KDM5C 0 0 1 0 1 0 12
AutG50943 FOXP3 1 0 0 0 1 0 4
AutG7076 TIMP1 0 0 0 2 1 0 4
AutG64061 TSPYL2 0 0 0 2 1 0 4
AutG2002 ELK1 0 0 0 1 1 0 3
AutG7454 WAS 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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