EIF4E1B

eukaryotic translation initiation factor 4E family member 1B

Basic information

Region (hg38): 5:176630618-176646644

Links

ENSG00000175766NCBI:253314HGNC:33179Uniprot:A6NMX2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EIF4E1B gene.

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
clinvar
2
clinvar
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)3275037
5-176643121-G-A not specified Likely benign (Apr 22, 2022)2377924
5-176643218-C-T not specified Likely benign (Jun 29, 2023)2608270
5-176643639-G-C not specified Uncertain significance (Mar 01, 2023)2467822
5-176643639-G-T not specified Uncertain significance (Feb 03, 2022)2209829
5-176645226-C-T not specified Uncertain significance (Aug 16, 2021)2245721
5-176645242-C-T not specified Uncertain significance (Oct 18, 2021)2250897
5-176645384-G-A not specified Uncertain significance (Sep 28, 2022)2350156
5-176645392-G-C not specified Uncertain significance (Feb 10, 2022)2218732
5-176645411-A-C not specified Uncertain significance (Sep 17, 2021)2363268
5-176645416-A-G not specified Uncertain significance (Oct 04, 2022)2316235
5-176645486-C-T not specified Uncertain significance (May 02, 2024)2407157
5-176645867-C-G not specified Uncertain significance (Nov 17, 2022)2327010
5-176645868-G-T not specified Uncertain significance (Jun 07, 2024)3275035
5-176645888-G-A not specified Uncertain significance (Aug 04, 2023)2615989
5-176645897-C-T not specified Uncertain significance (May 11, 2022)2288724
5-176645910-T-C not specified Uncertain significance (Jun 18, 2024)3275036
5-176645928-C-T not specified Uncertain significance (Jun 24, 2022)2297164
5-176645970-T-C not specified Uncertain significance (Aug 15, 2023)2618678

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EIF4E1Bprotein_codingprotein_codingENST00000318682 715960
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.39e-70.4641242250201242450.0000805
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6191151350.8500.000008101546
Missense in Polyphen4054.110.73923671
Synonymous0.3924750.50.9300.00000273455
Loss of Function0.7361114.00.7877.46e-7152

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002240.000216
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0001050.0000977
Middle Eastern0.000.00
South Asian0.0001010.0000982
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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