Detail Information of AutCNV0000302
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 | ASD | - | - | - | - | 402 | 186 | 588 | Qiao, 2008 | ||
Population: | USA, Canada | ||||||||||
Platform: | - | ||||||||||
Method: | aCGH | ||||||||||
Marker: | - | ||||||||||
Band: | Xp11.22 | ||||||||||
Evidences: | Overlapping/Recurrent CNVs; | ||||||||||
Region: | ChrX: 54003979-54475979 (hg17: ChrX: 53887000-54359000) | ||||||||||
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 |
---|---|---|---|
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 | ||||
No data! |