Detail Information of AutCNV0000277
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 |  | | autism | - | - | - | - | 278 | - | 278 | Wassink, 2001 |
| Population: | USA | ||||||||||
| Platform: | - | ||||||||||
| Method: | Chromosomal analysis of G-band | ||||||||||
| Marker: | - | ||||||||||
| Band: | 22q13 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr22: 37570054-51244566 (Deduced by Band) | ||||||||||
| Gain/Loss: | gain | ||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| AutG158 | ADSL | AR | 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. |
| AutG85358 | SHANK3 | 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. |
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 | |||
| AutG85358 | SHANK3 | 2 | 1 | 3 | 0 | 2 | 0 | 62 |
| AutG8911 | CACNA1I | 0 | 1 | 0 | 0 | 1 | 0 | 16 |
| AutG158 | ADSL | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG1120 | CHKB | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG56666 | PANX2 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG706 | TSPO | 0 | 0 | 0 | 2 | 1 | 0 | 4 |
| AutG3005 | H1F0 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG80115 | BAIAP2L2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG171568 | POLR3H | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG638 | BIK | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG5465 | PPARA | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG9463 | PICK1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG5905 | RANGAP1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG27254 | CSDC2 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |