EIF5AL1

eukaryotic translation initiation factor 5A like 1

Basic information

Region (hg38): 10:79512533-79516440

Previous symbols: [ "EIF5AP1" ]

Links

ENSG00000253626 ∙ NCBI:143244 ∙ ∙ HGNC:17419 ∙ Uniprot:Q6IS14 ∙ 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 EIF5AL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF5AL1 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in EIF5AL1

This is a list of pathogenic ClinVar variants found in the EIF5AL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-79512749-A-G		not specified	Uncertain significance (May 10, 2024)
10-79512750-A-G		not specified	Uncertain significance (Mar 27, 2023)
10-79512757-G-C		not specified	Uncertain significance (Aug 11, 2022)
10-79512875-A-G		not specified	Uncertain significance (Mar 24, 2023)
10-79512885-T-C		not specified	Uncertain significance (Jun 21, 2023)
10-79512927-G-C		not specified	Uncertain significance (Feb 22, 2023)
10-79512965-G-A		not specified	Uncertain significance (Jul 25, 2023)
10-79512987-G-A		not specified	Uncertain significance (Oct 12, 2022)
10-79512997-G-T		not specified	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF5AL1	protein_coding	protein_coding	ENST00000520547	1	3832

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.341	0.496	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.110	74	76.7	0.965	0.00000399	989
Missense in Polyphen		10	13.24	0.75531		207
Synonymous	-1.33	40	30.6	1.31	0.00000178	292
Loss of Function	0.688	0	0.550	0.00	2.25e-8	12

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. Functions as a regulator of apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.298

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Biological process: translational frameshifting;protein transport;positive regulation of translational elongation;positive regulation of translational termination;mRNA transport
• Cellular component: nuclear pore;endoplasmic reticulum membrane
• Molecular function: translation elongation factor activity;ribosome binding