EIF4E1B
Basic information
Region (hg38): 5:176630618-176646644
Links
Phenotypes
GenCC
Source:
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 EIF4E1B 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 | 0 | |||||
missense | 14 | 16 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 14 | 2 | 0 |
Variants in EIF4E1B
This is a list of pathogenic ClinVar variants found in the EIF4E1B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-176643082-G-T | not specified | Uncertain significance (Apr 22, 2024) | ||
5-176643121-G-A | not specified | Likely benign (Apr 22, 2022) | ||
5-176643218-C-T | not specified | Likely benign (Jun 29, 2023) | ||
5-176643639-G-C | not specified | Uncertain significance (Mar 01, 2023) | ||
5-176643639-G-T | not specified | Uncertain significance (Feb 03, 2022) | ||
5-176645226-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
5-176645242-C-T | not specified | Uncertain significance (Oct 18, 2021) | ||
5-176645384-G-A | not specified | Uncertain significance (Sep 28, 2022) | ||
5-176645392-G-C | not specified | Uncertain significance (Feb 10, 2022) | ||
5-176645411-A-C | not specified | Uncertain significance (Sep 17, 2021) | ||
5-176645416-A-G | not specified | Uncertain significance (Oct 04, 2022) | ||
5-176645486-C-T | not specified | Uncertain significance (May 02, 2024) | ||
5-176645867-C-G | not specified | Uncertain significance (Nov 17, 2022) | ||
5-176645868-G-T | not specified | Uncertain significance (Jun 07, 2024) | ||
5-176645888-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
5-176645897-C-T | not specified | Uncertain significance (May 11, 2022) | ||
5-176645910-T-C | not specified | Uncertain significance (Jun 18, 2024) | ||
5-176645928-C-T | not specified | Uncertain significance (Jun 24, 2022) | ||
5-176645970-T-C | not specified | Uncertain significance (Aug 15, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EIF4E1B | protein_coding | protein_coding | ENST00000318682 | 7 | 15960 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.39e-7 | 0.464 | 124225 | 0 | 20 | 124245 | 0.0000805 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.619 | 115 | 135 | 0.850 | 0.00000810 | 1546 |
Missense in 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 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000224 | 0.000216 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000105 | 0.0000977 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000101 | 0.0000982 |
Other | 0.00 | 0.00 |
dbNSFP
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}.;
- Pathway
- 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);Insulin signaling pathway - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway
(Consensus)
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- loftool
- 0.776
- rvis_EVS
- 0.57
- rvis_percentile_EVS
- 81.99
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.396
- ghis
- 0.447
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.110
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eif4e1b
- Phenotype
Gene ontology
- Biological process
- translational initiation;regulation of translation
- Cellular component
- cytoplasm;mRNA cap binding complex;eukaryotic translation initiation factor 4F complex
- Molecular function
- RNA 7-methylguanosine cap binding;translation initiation factor activity