Evidence Detail for EEF2K
Basic Information Top
| Gene Symbol: | EEF2K ( HSU93850,MGC45041,eEF-2K ) |
|---|---|
| Gene Full Name: | eukaryotic elongation factor-2 kinase |
| Band: | 16p12.2 |
| Quick Links | Entrez ID:29904; OMIM: 606968; Uniprot ID:EF2K_HUMAN; ENSEMBL ID: ENSG00000103319 |
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 | 0 (0) | 1 (1) | 1 (4) | 0 (0) | 0 (1) | 0 (0) | 3 (2) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Population | #SNPs/ #VNTRs | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Philippi, 2005_1 | AGRE | 1 (detail) | 116 | - (-) |  | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Population | #SNPs/ #VNTRs | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
||||
| No Evidence. | |||||||||||
Genome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.927797 | Down | 20.8011 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000183 | 16 | 16p12.2 | gain | 1 | - | Other; | Marshall, 2008 |
| AutCNV0000184 | 16 | 16p12.2 | loss | 1 | - | Other; | Marshall, 2008 |
| AutCNV0000743 | 16 | 16p12.1 | loss | 1 | - | paternal | Bremer, 2011 |
| AutCNV0000755 | 16 | 16p12.1 | loss | 1 | - | paternal | Pinto, 2010 |
| AutCNV0000793 | 16 | 16p12.1 | loss | 1 | - | maternal | Pinto, 2010 |
| AutCNV0003990 | 16 | 16p12.1 | gain | 1 | - | CNVs Only Present In Patients; | Levy, 2011 |
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.
