Detail Information of AutCNV0000690
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 | |||||
Not Mentioned | ASD | - | - | - | - | 396 | 5023 | 5419 | Berkel, 2010 | ||
Complication: | Yes | ||||||||||
Population: | Canada | ||||||||||
Platform: | Affymetrix SNP Array 6.0/Illumina Infinium 1M single SNP array | ||||||||||
Method: | SNP microarray | ||||||||||
Marker: | null | ||||||||||
Band: | 17q21.31 | ||||||||||
Evidences: | CNVs Only Present In Patients; CNVs Not Present In Control; | ||||||||||
Region: | Chr17: 40546474-44544684 | ||||||||||
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 | |||
AutG1845 | DUSP3 | 1 | 0 | 0 | 0 | 1 | 0 | 24 |
AutG3674 | ITGA2B | 0 | 0 | 0 | 2 | 1 | 0 | 14 |
AutG2670 | GFAP | 0 | 0 | 0 | 3 | 1 | 0 | 5 |
AutG1394 | CRHR1 | 1 | 0 | 0 | 0 | 1 | 0 | 4 |
AutG146909 | KIF18B | 1 | 0 | 0 | 0 | 1 | 0 | 4 |
AutG4669 | NAGLU | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
AutG79089 | TMUB2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
AutG8153 | RND2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
AutG146894 | CD300LG | 0 | 0 | 0 | 1 | 1 | 0 | 3 |