Detail Information of AutCNV0000711
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 | |||||
Caucasion | autism | 1 | - | 1 | - | - | - | - | Pagnamenta, 2011 | ||
Population: | IMGSAC | ||||||||||
Platform: | - | ||||||||||
Method: | FISH,qPCR | ||||||||||
Marker: | - | ||||||||||
Band: | Xp21.1 | ||||||||||
Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
Region: | ChrX: 32187292-32412024 (hg18: ChrX: 32097213-32321945) | ||||||||||
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 |
---|---|---|---|
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. |
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 | |||
AutG1756 | DMD | 0 | 2 | 0 | 0 | 2 | 0 | 28 |