EEF1G

eukaryotic translation elongation factor 1 gamma, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 11:62559596-62574086

Links

ENSG00000254772 ∙ NCBI:1937 ∙ OMIM:130593 ∙ HGNC:3213 ∙ Uniprot:P26641 ∙ 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 EEF1G gene.

• not_specified (38 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEF1G gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001404.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			38			38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EEF1G	protein_coding	protein_coding	ENST00000329251	10	15329

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000332	124628	0	5	124633	0.0000201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.50	141	253	0.558	0.0000148	2857
Missense in Polyphen		14	45.58	0.30715		626
Synonymous	-0.0864	100	98.9	1.01	0.00000587	813
Loss of Function	4.67	1	27.4	0.0365	0.00000159	274

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.0000974	0.0000928
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000329	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably plays a role in anchoring the complex to other cellular components.
• Pathway: Legionellosis - Homo sapiens (human);Translation Factors;Translation;Metabolism of proteins;Eukaryotic Translation Elongation (Consensus)

Recessive Scores

• pRec: 0.393

Intolerance Scores

• rvis_EVS: -0.45
• rvis_percentile_EVS: 24

Haploinsufficiency Scores

• pHI: 0.554
• hipred: Y
• hipred_score: 0.662
• ghis: 0.485

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eef1g

Zebrafish Information Network

• Gene name: eef1g
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: translational elongation;response to virus
• Cellular component: nucleus;cytoplasm;endoplasmic reticulum;cytosol;membrane;extracellular exosome
• Molecular function: translation elongation factor activity;protein binding;cadherin binding