EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
Basic information
Region (hg38): 8:38030534-38060365
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF4EBP1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 1 | 1 |
Variants in EIF4EBP1
This is a list of pathogenic ClinVar variants found in the EIF4EBP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-38030610-C-T | not specified | Uncertain significance (Nov 03, 2023) | ||
| 8-38030634-G-A | not specified | Uncertain significance (Aug 21, 2023) | ||
| 8-38057172-G-A | Likely benign (Jan 18, 2024) | |||
| 8-38057183-G-A | not specified | Uncertain significance (Feb 26, 2024) | ||
| 8-38057220-G-A | Benign (Dec 31, 2019) | |||
| 8-38057224-C-T | not specified | Uncertain significance (Feb 14, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| EIF4EBP1 | protein_coding | protein_coding | ENST00000338825 | 3 | 30025 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.208 | 0.659 | 125731 | 0 | 7 | 125738 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.822 | 47 | 65.8 | 0.715 | 0.00000384 | 762 |
| Missense in Polyphen | 21 | 23.993 | 0.87525 | 300 | ||
| Synonymous | 0.859 | 19 | 24.4 | 0.779 | 0.00000128 | 241 |
| Loss of Function | 1.02 | 1 | 2.87 | 0.348 | 1.22e-7 | 41 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000173 | 0.000173 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000882 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways. {ECO:0000269|PubMed:22578813, ECO:0000269|PubMed:7935836}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);RNA transport - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Leucine Stimulation on Insulin Signaling;Translation Factors;AMP-activated Protein Kinase (AMPK) Signaling;Target Of Rapamycin (TOR) Signaling;Leptin signaling pathway;Follicle Stimulating Hormone (FSH) signaling pathway;Prolactin Signaling Pathway;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Androgen Receptor Network in Prostate Cancer;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Alpha 6 Beta 4 signaling pathway;JAK-STAT;Rac1-Pak1-p38-MMP-2 pathway;BDNF-TrkB Signaling;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression;Angiopoietin Like Protein 8 Regulatory Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;EGF-EGFR Signaling Pathway;Insulin Signaling;Hypertrophy Model;Interferon type I signaling pathways;ErbB Signaling Pathway;Signal Transduction;mtor signaling pathway;regulation of eif-4e and p70s6 kinase;skeletal muscle hypertrophy is regulated via akt-mtor pathway;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;Alpha6Beta4Integrin;Eukaryotic Translation Initiation;Translation;Metabolism of proteins;mTORC1-mediated signalling;mTOR signalling;KitReceptor;insulin Mam;BCR;EGFR1;IL2;Leptin;IL6;Cap-dependent Translation Initiation;mTOR signaling pathway;Insulin Pathway;Signaling mediated by p38-alpha and p38-beta;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);insulin
(Consensus)
Recessive Scores
- pRec
- 0.291
Haploinsufficiency Scores
- pHI
- 0.620
- hipred
- Y
- hipred_score
- 0.672
- ghis
- 0.489
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.943
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Eif4ebp1
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- G1/S transition of mitotic cell cycle;IRES-dependent translational initiation of linear mRNA;insulin receptor signaling pathway;TOR signaling;positive regulation of mitotic cell cycle;negative regulation of translational initiation;cellular response to dexamethasone stimulus
- Cellular component
- cytoplasm;cytosol
- Molecular function
- protein binding;eukaryotic initiation factor 4E binding;translation repressor activity