EIF4ENIF1

eukaryotic translation initiation factor 4E nuclear import factor 1

Basic information

Region (hg38): 22:31436977-31496108

Links

ENSG00000184708 ∙ NCBI:56478 ∙ OMIM:607445 ∙ HGNC:16687 ∙ Uniprot:Q9NRA8 ∙ 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 EIF4ENIF1 gene.

• not_specified (120 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF4ENIF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019843.4. 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				2	1	3
missense			120	1	1	122
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	121	3	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF4ENIF1	protein_coding	protein_coding	ENST00000397525	18	59132

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000522	125736	0	9	125745	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.99	428	560	0.764	0.0000310	6391
Missense in Polyphen		171	257.06	0.66522		2982
Synonymous	-0.0125	200	200	1.00	0.0000102	2022
Loss of Function	6.15	4	51.7	0.0774	0.00000317	540

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000192	0.000185
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Nucleoplasmic shuttling protein, which inhibits translation initiation. Mediates the nuclear import of EIF4E by a piggy-back mechanism. {ECO:0000269|PubMed:10856257}.

Recessive Scores

• pRec: 0.231

Intolerance Scores

• loftool: 0.00965
• rvis_EVS: -0.97
• rvis_percentile_EVS: 8.9

Haploinsufficiency Scores

• pHI: 0.376
• hipred: Y
• hipred_score: 0.802
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eif4enif1

Gene ontology

• Biological process: protein transport;negative regulation of translation;stem cell population maintenance;negative regulation of neuron differentiation
• Cellular component: P-body;nucleus;cytoplasm;cytosol;membrane;PML body;nuclear speck;intracellular membrane-bounded organelle
• Molecular function: RNA binding;mRNA binding;protein binding;protein transporter activity