Detail Information of AutCNV0004299
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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 | 1127 | 1127 | - | - | - | - | - | Sanders, 2011 |
Population: | Simons Simplex Collection | ||||||||||
Platform: | Illumina Infinium 1M SNP array | ||||||||||
Method: | SNP microarray | ||||||||||
Marker: | - | ||||||||||
Band: | 12p11.22-p12.3 | ||||||||||
Evidences: | CNVs Only Present In Patients; | ||||||||||
Region: | Chr12: 17015267-29997799 (hg18: Chr12: 16906534-29889066) | ||||||||||
Gain/Loss: | loss |
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Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID | Gene Symbol | Inheritance | Evidence Level |
---|---|---|---|
AutG3845 | KRAS | 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. |
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Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
---|---|---|---|---|---|---|---|---|
Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
AutG9847 | KIAA0528 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
AutG144363 | LYRM5 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
AutG586 | BCAT1 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
AutG11228 | RASSF8 | 0 | 0 | 0 | 1 | 0 | 1 | 3 |
AutG55711 | FAR2 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |