EEF1A1P5

eukaryotic translation elongation factor 1 alpha 1 pseudogene 5

Basic information

Region (hg38): 9:133019486-133020874

Previous symbols: [ "EEF1AL3" ]

Links

ENSG00000196205

∙ NCBI:158078 ∙ ∙ HGNC:3200 ∙ Uniprot:Q5VTE0 ∙ 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 EEF1A1P5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEF1A1P5 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. {ECO:0000250}.;
Pathway: Translation;Metabolism of proteins;Eukaryotic Translation Elongation (Consensus)

Recessive Scores

pRec: 0.649

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.539

Gene ontology

Biological process: translation;translational elongation;biological_process
Cellular component: extracellular space;nucleus;cytoplasm;extracellular exosome
Molecular function: molecular_function;translation elongation factor activity;GTPase activity;GTP binding