EIF5A2 eukaryotic translation initiation factor 5A2
Information
- Symbol
- EIF5A2
- Type
- protein-coding
- Description
- eukaryotic translation initiation factor 5A2
- Entrez Gene ID
- 56648
- Genome
- hg19
- Position
- chr3:170,606,207-170,626,426
- Genome
- hg38
- Position
- chr3:170,888,418-170,908,637
- MIM
- 605782 OMIM
- HGNC
- HGNC:3301 HGNC
- Ensembl
- ENSG00000163577 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 1 | 0 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| 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 | EIF-5A2 |
| SYNONYM | eIF5AII |
| MIM | 605782 OMIM |
| HGNC | HGNC:3301 HGNC |
| Ensembl | ENSG00000163577 Ensembl |
| AllianceGenome | HGNC:3301 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000295822.7 | hg38 | chr3 | 170,888,418 | 170,908,637 | 20,220 |
| ENST00000487522.5 | hg38 | chr3 | 170,893,216 | 170,908,598 | 15,383 |
| ENST00000474096.5 | hg38 | chr3 | 170,893,349 | 170,908,644 | 15,296 |
| ENST00000295822.7 | hg19 | chr3 | 170,606,207 | 170,626,426 | 20,220 |
| ENST00000487522.5 | hg19 | chr3 | 170,611,005 | 170,626,387 | 15,383 |
| ENST00000474096.5 | hg19 | chr3 | 170,611,138 | 170,626,433 | 15,296 |
| Key | Value |
|---|---|
| strand | - |
| start | 170,606,203 |
| Gene Symbol | EIF5A2 |
| Entrez GeneId | 56,648 |
| Chr Band | 3q26.2 |
| end | 170,626,425 |
| chr | chr3 |
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