Detail Information of AutCNV0005129
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 | |||||
Han Chinese | ASD | - | - | - | - | 335 | 1093 | 602 | Yin CL, 2016 | ||
Population: | Taiwan | ||||||||||
Platform: | Affymetrix Genome-Wide Human SNP Array 6.0 | ||||||||||
Method: | GWAS | ||||||||||
Marker: | - | ||||||||||
Band: | 6q26 | ||||||||||
Evidences: | CNVs Only Present In Patients; Significant Enriched CNVs; | ||||||||||
Region: | Chr6: 162451920-162507690 | ||||||||||
Gain/Loss: | loss |
Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
Han Chinese | ASD | - | - | - | - | 301 | 301 | 602 | Yin CL, 2016 | ||
Population: | Taiwan | ||||||||||
Platform: | Affymetrix Genome-Wide Human SNP Array 6.0 | ||||||||||
Method: | GWAS | ||||||||||
Marker: | - | ||||||||||
Band: | 6q26 | ||||||||||
Evidences: | CNVs Only Present In Patients; Significant Enriched CNVs; | ||||||||||
Region: | Chr6: 162451920-162507690 | ||||||||||
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 | |||
AutG5071 | PARK2 | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
Simple Query:
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