EIF4E1B
protein-codingeukaryotic translation initiation factor 4E family member 1B
Gene summary
Predicted to enable RNA 7-methylguanosine cap binding activity and translation initiation factor activity. Predicted to be involved in translational initiation. Predicted to be located in cytoplasm. Predicted to be part of eukaryotic translation initiation factor 4F complex. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~16.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to EIF4E1B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001099408.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 34 | 3 | 37 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 34 | 4 | 0 | 38 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001092878.1 | 7 | MANE Select | |
| Ensembl | ENSP00000323714.6 | 7 | MANE Select | |
| RefSeq | NP_001362291.1 | 7 | Standard | |
| Ensembl | ENSP00000427633.1 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- PI3K-Akt signaling pathway - Homo sapiens (human)
- mTOR signaling pathway - Homo sapiens (human)
- HIF-1 signaling pathway - Homo sapiens (human)
- RNA transport - Homo sapiens (human)
- Longevity regulating pathway - Homo sapiens (human)
Biological Process
- translational initiation
- regulation of translation
Molecular Function
- RNA 7-methylguanosine cap binding
- translation initiation factor activity
Cellular Component
- cytoplasm
- mRNA cap binding complex
- eukaryotic translation initiation factor 4F complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000318682
- Coding exons
- 7
- Length
- 15960
- Individuals with no LoFs
- 124225
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 20
- Defined
- 124245
- p
- 0.0000805
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.619 | 115 | 135 | 0.850 | 0.00000810 | 1546 |
| Missense (PolyPhen) | 40 | 54.11 | 0.73923 | 671 | ||
| Synonymous | 0.392 | 47 | 50.5 | 0.930 | 0.00000273 | 455 |
| Loss of Function | 0.736 | 11 | 14.0 | 0.787 | 7.46e-7 | 152 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000073 | 0.000065 | rare |
| Latino/Admixed American | 0.00015 | 0.00015 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00010 | 0.000098 | rare |
| South Asian | 0.00010 | 0.000098 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- LoFtool
- 0.776
- RVIS EVS
- 0.57
- RVIS percentile EVS
- 81.99
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.110
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |