Detail Information of AutCNV0000721
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 | - | - | - | - | 223 | - | 223 | Bremer, 2011 | ||
Population: | - | ||||||||||
Platform: | Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays | ||||||||||
Method: | aCGH | ||||||||||
Marker: | - | ||||||||||
Band: | 17p11.2 | ||||||||||
Evidences: | Denovo CNVs; | ||||||||||
Region: | Chr17: 16532736-20464365 (hg18: Chr17: 16473461-20404957) | ||||||||||
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 |
---|---|---|---|
AutG10743 | RAI1 | AD | 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 | |||
AutG5636 | PRPSAP2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |