Evidence Details for EEF1E1
Basic Information Top
| Gene Symbol: | EEF1E1 ( AIMP3,P18 ) |
|---|---|
| Gene Full Name: | eukaryotic translation elongation factor 1 epsilon 1 |
| Band: | 6p24.3 |
| Quick Links | Entrez ID:9521; OMIM: 609206; Uniprot ID:MCA3_HUMAN; ENSEMBL ID: ENSG00000124802; HGNC ID: 3212 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EEF1E1|9521|nucleotide
ATGGCGGCGGCCGCAGAGTTGTCGCTACTGGAGAAGTCCCTGGGACTGAGTAAGGGGAATAAATACAGTGCTCAGGGCGAGCGACAGATTCCAGTTCTTCAGACA
AACAATGGTCCAAGTCTAACAGGATTGACTACTATAGCAGCTCATCTAGTCAAGCAAGCCAACAAAGAATATTTGCTGGGGAGTACTGCAGAAGAAAAAGCAATC
GTTCAGCAGTGGTTAGAATACAGGGTCACTCAAGTAGATGGGCACTCCAGTAAAAATGACATCCACACACTGTTGAAGGATCTTAATTCATATCTTGAAGATAAA
GTCTACCTTACAGGGTATAACTTTACATTAGCAGATATACTATTGTACTATGGACTTCATCGCTTTATAATAAGGAAGCTGAGGCACACAGAGGTAGGGAACTAA
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ATGGCGGCGGCCGCAGAGTTGTCGCTACTGGAGAAGTCCCTGGGACTGAGTAAGGGGAATAAATACAGTGCTCAGGGCGAGCGACAGATTCCAGTTCTTCAGACA
AACAATGGTCCAAGTCTAACAGGATTGACTACTATAGCAGCTCATCTAGTCAAGCAAGCCAACAAAGAATATTTGCTGGGGAGTACTGCAGAAGAAAAAGCAATC
GTTCAGCAGTGGTTAGAATACAGGGTCACTCAAGTAGATGGGCACTCCAGTAAAAATGACATCCACACACTGTTGAAGGATCTTAATTCATATCTTGAAGATAAA
GTCTACCTTACAGGGTATAACTTTACATTAGCAGATATACTATTGTACTATGGACTTCATCGCTTTATAATAAGGAAGCTGAGGCACACAGAGGTAGGGAACTAA
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>EEF1E1|9521|protein
MAAAAELSLLEKSLGLSKGNKYSAQGERQIPVLQTNNGPSLTGLTTIAAHLVKQANKEYLLGSTAEEKAIVQQWLEYRVTQVDGHSSKNDIHTLLKDLNSYLEDK
VYLTGYNFTLADILLYYGLHRFIIRKLRHTEVGN
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MAAAAELSLLEKSLGLSKGNKYSAQGERQIPVLQTNNGPSLTGLTTIAAHLVKQANKEYLLGSTAEEKAIVQQWLEYRVTQVDGHSSKNDIHTLLKDLNSYLEDK
VYLTGYNFTLADILLYYGLHRFIIRKLRHTEVGN
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Evidence summary 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 | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
-2.49 | Down | 0.000851 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene 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.