Evidence Detail for UPP2
Basic Information Top
| Gene Symbol: | UPP2 ( UDRPASE2,UP2,UPASE2 ) |
|---|---|
| Gene Full Name: | uridine phosphorylase 2 |
| Band: | 2q24.1 |
| Quick Links | Entrez ID:151531; OMIM: ; Uniprot ID:UPP2_HUMAN; ENSEMBL ID: ENSG00000007001 |
Sequences Top Evidence Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | Expression | CNV | Linkage | Low Scale Association | Other Studies | Total |
|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 3 (3) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 20 (3) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_1 | Discovery | 2 (detail) | 126 | 126 (-) |  | | ASD | - - |
- - | ||
| Maestrini, 2009_3 | Replication | 1 (detail) | 390 | 390 (-) | | | ASD | - - |
- - | ||
| Lu, 2010_1 | Re-analysis | 1 (detail) | 990 | - (-) | |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
Other Low Scale Gene Studies TopLarge Scale Expression Studies TopCNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000409 | 2 | 2q24.1-24.3 | Loss | 1 | - | Overlapping/Recurrent CNVs; | Gregory, 2009 |
Linkage Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
