Detail Information of AutCNV0000279


Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
Caucasion | ![]() | ![]() | PDD | - | - | - | - | 104 | - | - | Wassink, 2007 |
Population: | USA | ||||||||||
Platform: | - | ||||||||||
Method: | FISH | ||||||||||
Marker: | - | ||||||||||
Band: | 15q11.2-13 | ||||||||||
Evidences: | CNVs Only Present In Patients; | ||||||||||
Region: | Chr15: 18400000 - 31400000 (Deduced by Band) | ||||||||||
Gain/Loss: | gain |


Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID | Gene Symbol | Inheritance | Evidence Level |
---|---|---|---|
AutG7337 | UBE3A | AD | Level 4: The disorder is a generally acknowledged ASD related disorder. |


Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
---|---|---|---|---|---|---|---|---|
Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
AutG2562 | GABRB3 | 2 | 0 | 3 | 1 | 3 | 0 | 34 |
AutG2558 | GABRA5 | 1 | 0 | 2 | 2 | 3 | 0 | 25 |
AutG114791 | TUBGCP5 | 0 | 0 | 2 | 2 | 3 | 0 | 22 |
AutG23191 | CYFIP1 | 0 | 0 | 2 | 1 | 3 | 0 | 21 |
AutG123606 | NIPA1 | 0 | 0 | 2 | 0 | 3 | 0 | 20 |
AutG7337 | UBE3A | 1 | 0 | 1 | 1 | 3 | 0 | 17 |
AutG2567 | GABRG3 | 1 | 0 | 1 | 0 | 3 | 0 | 16 |
AutG1139 | CHRNA7 | 0 | 0 | 1 | 0 | 3 | 1 | 14 |
AutG81614 | NIPA2 | 0 | 0 | 1 | 1 | 3 | 0 | 14 |
AutG321 | APBA2 | 0 | 0 | 1 | 0 | 3 | 1 | 14 |
AutG57194 | ATP10A | 2 | 0 | 0 | 0 | 3 | 0 | 12 |
AutG6638 | SNRPN | 1 | 0 | 0 | 0 | 3 | 0 | 9 |
AutG390535 | GOLGA8E | 0 | 0 | 0 | 1 | 3 | 0 | 7 |