Evidence Detail for PRKX
Basic Information Top
| Gene Symbol: | PRKX ( PKX1 ) |
|---|---|
| Gene Full Name: | protein kinase, X-linked |
| Band: | Xp22.3 |
| Quick Links | Entrez ID:5613; OMIM: 300083; Uniprot ID:PRKX_HUMAN; ENSEMBL ID: ENSG00000183943 |
Sequences Top
Evidence Statistic Top
Click 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 | 2 (2) | 0 (0) | 1 (4) | 0 (0) | 0 (0) | 1 (1) | 21 (3) |
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
| Reference | Stage | #SNPs/ #VNTRs | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Wang, 2009_1 | Discovery | 1 (detail) | 780 | 1299 (-) | ![]() | ![]() | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Wang, 2009_2 | Discovery | 1 (detail) | 1204 (-) | ![]() | ![]() | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - | ||
Other Low Scale Gene Studies Top
| Reference | Orangnism | Tissue | ADI-R | ADOS | Diagnosis | Evidence Level | Result | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Piton, 2010_1 | human | blood | ![]() | ![]() | ASD | genetics: mutation screen | ||||
| ||||||||||
Large Scale Expression Studies Top
CNV Studies Top
| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000161 | X | Xp22.33-22.31 | loss | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000299 | X | Xp22 | loss | 1 | - | Denovo CNVs; | Thomas, 1999 |
| AutCNV0000300 | X | Xp22 | loss | 1 | - | Denovo CNVs; | Thomas, 1999 |
| AutCNV0000301 | X | Xp22 | loss | 1 | - | Denovo CNVs; | Thomas, 1999 |
| AutCNV0000713 | X | Xp11.2-p22.33 | gain | 1 | - | CNVs Only Present In Patients; | Edens, 2011 |
| AutCNV0004398 | X | Xp22.32-p22.33 | loss | 1 | - | CNVs Only Present In Patients; | Sanders, 2011 |
Linkage Studies Top
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