Detail Information of AutCNV0000162
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 | |||||
Mixed | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | Marshall, 2008 | ||
Population: | - | ||||||||||
Platform: | Affymetrix 500K array | ||||||||||
Method: | SNP microarray | ||||||||||
Marker: | - | ||||||||||
Band: | Xp11.23-p11.22 | ||||||||||
Evidences: | Denovo CNVs; | ||||||||||
Region: | ChrX: 48317346-52833945 (hg17: ChrX: 48073600-52716966) | ||||||||||
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 |
---|---|---|---|
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. |
3. Related Non-syndromic Genes Top