Detail Information of AutCNV0000018
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 | 751 | - | - | - | 2252 | 23502 | 25754 | Weiss, 2008 | ||
Population: | USA, Ireland | ||||||||||
Platform: | Affymetrix 5.0 array, Affymetrix 500K array, Agilent array, Illumina Human-Hap300 BeadChip | ||||||||||
Method: | aCGH, SNP microarray | ||||||||||
Marker: | - | ||||||||||
Band: | 16p11.2 | ||||||||||
Evidences: | Overlapping/Recurrent CNVs; Denovo CNVs; | ||||||||||
Region: | Chr16: 27692499-34542499 (Deduced by Band) | ||||||||||
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 | |||
AutG5595 | MAPK3 | 0 | 0 | 2 | 0 | 2 | 0 | 34 |
AutG10295 | BCKDK | 0 | 0 | 1 | 0 | 2 | 0 | 22 |
AutG146395 | GSG1L | 0 | 1 | 0 | 0 | 2 | 0 | 8 |
AutG112476 | PRRT2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
AutG115509 | ZNF689 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
AutG9739 | SETD1A | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
AutG3684 | ITGAM | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
AutG9344 | TAOK2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
AutG22928 | SEPHS2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
AutG78994 | PRR14 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |