GUF1

GTP binding elongation factor GUF1

Basic information

Region (hg38): 4:44678420-44700928

Links

ENSG00000151806 ∙ NCBI:60558 ∙ OMIM:617064 ∙ HGNC:25799 ∙ Uniprot:Q8N442 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• infantile spasms (Supportive), mode of inheritance: AD
• developmental and epileptic encephalopathy, 40 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Developmental and epileptic encephalopathy 40	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	26486472

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GUF1 gene.

• not_provided (387 variants)
• not_specified (100 variants)
• GUF1-related_disorder (18 variants)
• Developmental_and_epileptic_encephalopathy,_40 (8 variants)
• Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021927.3. 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			4	68	2	74
missense	1		221	16	4	242
nonsense			12	1		13
start loss			1			1
frameshift		1	19			20
splice donor/acceptor (+/-2bp)			12		1	13
Total	1	1	269	85	7

Highest pathogenic variant AF is 0.0000212872

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GUF1	protein_coding	protein_coding	ENST00000281543	17	22500

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.35e-18	0.0449	121777	231	3736	125744	0.0159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.152	325	333	0.977	0.0000161	4330
Missense in Polyphen		146	157.7	0.92582		2043
Synonymous	0.217	118	121	0.975	0.00000627	1300
Loss of Function	0.897	30	35.8	0.838	0.00000194	445

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.108	0.108
Ashkenazi Jewish	0.00284	0.00258
East Asian	0.00479	0.00474
Finnish	0.000695	0.000693
European (Non-Finnish)	0.00245	0.00238
Middle Eastern	0.00479	0.00474
South Asian	0.00222	0.00203
Other	0.0132	0.0131

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one- codon backward translocation of tRNAs on improperly translocated ribosomes. Binds to mitochondrial ribosomes in a GTP-dependent manner. {ECO:0000255|HAMAP-Rule:MF_03137}.
• Disease: DISEASE: Epileptic encephalopathy, early infantile, 40 (EIEE40) [MIM:617065]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE40 inheritance is autosomal recessive. {ECO:0000269|PubMed:26486472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.249

Intolerance Scores

• loftool: 0.934
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.51

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.352
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.226

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Guf1

Gene ontology

• Biological process: translation;positive regulation of translation
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial matrix
• Molecular function: GTPase activity;GTP binding;ribosome binding