EEF1E1 eukaryotic translation elongation factor 1 epsilon 1
Information
- Symbol
- EEF1E1
- Type
- protein-coding
- Description
- eukaryotic translation elongation factor 1 epsilon 1
- Entrez Gene ID
- 9521
- Genome
- hg19
- Position
- chr6:8,079,628-8,102,781
- Genome
- hg38
- Position
- chr6:8,079,395-8,102,548
- MIM
- 609206 OMIM
- HGNC
- HGNC:3212 HGNC
- Ensembl
- ENSG00000124802 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 4 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
4 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | AIMP3 |
| SYNONYM | P18 |
| MIM | 609206 OMIM |
| HGNC | HGNC:3212 HGNC |
| Ensembl | ENSG00000124802 Ensembl |
| AllianceGenome | HGNC:3212 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000429723.6 | hg38 | chr6 | 8,073,360 | 8,102,548 | 29,189 |
| ENST00000379715.10 | hg38 | chr6 | 8,079,395 | 8,102,548 | 23,154 |
| ENST00000507463.1 | hg38 | chr6 | 8,089,954 | 8,102,559 | 12,606 |
| ENST00000429723.6 | hg19 | chr6 | 8,073,593 | 8,102,781 | 29,189 |
| ENST00000379715.10 | hg19 | chr6 | 8,079,628 | 8,102,781 | 23,154 |
| ENST00000507463.1 | hg19 | chr6 | 8,090,187 | 8,102,792 | 12,606 |
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