EEF1E1

eukaryotic translation elongation factor 1 epsilon 1, the group of Small nucleolar RNA protein coding host genes|Aminoacyl tRNA synthetase complex interacting multifunctional proteins

Basic information

Region (hg38): 6:8073360-8102559

Previous symbols: [ "P18" ]

Links

ENSG00000124802

∙ NCBI:9521 ∙ OMIM:609206 ∙ HGNC:3212 ∙ Uniprot:O43324 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EEF1E1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEF1E1 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			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in EEF1E1

This is a list of pathogenic ClinVar variants found in the EEF1E1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-8079966-T-A		not specified	Uncertain significance (Dec 02, 2022)	2332182
6-8080024-G-C		not specified	Uncertain significance (May 31, 2022)	2293153

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EEF1E1	protein_coding	protein_coding	ENST00000379715	4	29219

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0826	0.876	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.521	76	89.9	0.845	0.00000419	1125
Missense in Polyphen		21	26.425	0.79471		347
Synonymous	-0.290	39	36.8	1.06	0.00000166	341
Loss of Function	1.74	3	8.46	0.354	3.55e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000443	0.0000439
Middle Eastern	0.000218	0.000217
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Positive modulator of ATM response to DNA damage. {ECO:0000250|UniProtKB:Q9D1M4}.;
Pathway: tRNA Aminoacylation;Translation;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism;Selenoamino acid metabolism;SeMet incorporation into proteins;Cytosolic tRNA aminoacylation (Consensus)

Recessive Scores

pRec: 0.140

Intolerance Scores

loftool: 0.521
rvis_EVS: -0.14
rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

pHI: 0.884
hipred: Y
hipred_score: 0.592
ghis: 0.686

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.279

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Eef1e1
Phenotype: immune system phenotype; hematopoietic system 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); neoplasm; cellular phenotype;

Gene ontology

Biological process: tRNA aminoacylation for protein translation;negative regulation of cell population proliferation;positive regulation of apoptotic process;positive regulation of DNA damage response, signal transduction by p53 class mediator;positive regulation of cellular senescence
Cellular component: nucleus;nucleoplasm;nucleolus;cytoplasm;cytosol;aminoacyl-tRNA synthetase multienzyme complex
Molecular function: protein binding