EIF5

eukaryotic translation initiation factor 5, the group of Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 14:103333544-103345025

Links

ENSG00000100664 ∙ NCBI:1983 ∙ OMIM:601710 ∙ HGNC:3299 ∙ Uniprot:P55010 ∙ 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 EIF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF5 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			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	25	0	0

Variants in EIF5

This is a list of pathogenic ClinVar variants found in the EIF5 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-103335901-A-G		not specified	Uncertain significance (Jun 29, 2022)
14-103336821-C-G		not specified	Uncertain significance (Aug 28, 2023)
14-103337157-A-C		not specified	Uncertain significance (Mar 07, 2023)
14-103337212-C-T		not specified	Uncertain significance (Aug 06, 2021)
14-103338342-G-A		not specified	Uncertain significance (Feb 13, 2025)
14-103338351-A-G		not specified	Uncertain significance (Apr 26, 2023)
14-103338408-C-T		not specified	Uncertain significance (Dec 02, 2022)
14-103338419-A-G		not specified	Uncertain significance (Sep 24, 2024)
14-103338447-A-G		not specified	Uncertain significance (Dec 22, 2023)
14-103338455-C-A		not specified	Uncertain significance (Mar 01, 2024)
14-103338458-C-T		not specified	Uncertain significance (Dec 08, 2023)
14-103338747-G-A		not specified	Uncertain significance (Sep 26, 2024)
14-103338749-T-G		not specified	Uncertain significance (Aug 01, 2024)
14-103338756-T-A		not specified	Uncertain significance (Feb 12, 2024)
14-103338789-C-T		not specified	Uncertain significance (Aug 27, 2024)
14-103338793-G-A		not specified	Uncertain significance (Feb 28, 2023)
14-103339164-C-T			Benign (Jan 19, 2018)
14-103339203-C-G		not specified	Uncertain significance (Jun 17, 2024)
14-103339259-C-A		not specified	Uncertain significance (Sep 05, 2024)
14-103339277-C-A		not specified	Uncertain significance (Jun 22, 2021)
14-103339298-G-C		not specified	Uncertain significance (Feb 21, 2025)
14-103339647-C-A		not specified	Uncertain significance (Dec 29, 2024)
14-103339656-A-C		not specified	Uncertain significance (Jan 01, 2025)
14-103339702-A-G		not specified	Uncertain significance (Oct 01, 2024)
14-103339796-C-G		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF5	protein_coding	protein_coding	ENST00000216554	10	11482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0124	125736	0	8	125744	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	178	247	0.721	0.0000134	2893
Missense in Polyphen		22	62.368	0.35274		780
Synonymous	-3.14	118	81.8	1.44	0.00000450	757
Loss of Function	3.96	2	22.1	0.0906	0.00000116	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000126	0.000125
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000361	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]).
• Pathway: RNA transport - Homo sapiens (human);Translation Factors;Eukaryotic Translation Initiation;Translation;Metabolism of proteins;regulation of eif2;eukaryotic protein translation;Ribosomal scanning and start codon recognition;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.112
• rvis_EVS: -0.69
• rvis_percentile_EVS: 14.97

Haploinsufficiency Scores

• pHI: 0.793
• hipred: Y
• hipred_score: 0.783
• ghis: 0.661

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.961

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eif5

Gene ontology

• Biological process: formation of translation preinitiation complex;translational initiation;regulation of translational initiation;activation of GTPase activity
• Cellular component: nucleus;cytoplasm;cytosol;plasma membrane
• Molecular function: RNA binding;translation initiation factor activity;GTPase activity;protein binding;GTP binding;translation factor activity, RNA binding;cadherin binding;eukaryotic initiation factor eIF2 binding