ENOSF1

enolase superfamily member 1

Basic information

Region (hg38): 18:670318-712662

Links

ENSG00000132199

∙ NCBI:55556 ∙ OMIM:607427 ∙ HGNC:30365 ∙ Uniprot:Q7L5Y1 ∙ 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 ENOSF1 gene.

not_specified (89 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENOSF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017512.7. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			70 clinvar	1 clinvar		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENOSF1	protein_coding	protein_coding	ENST00000340116	15	42353

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.03e-19	0.00431	125437	2	309	125748	0.00124

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.268	276	264	1.05	0.0000136	2983
Missense in Polyphen		102	96.859	1.0531		1141
Synonymous	-0.00504	104	104	1.00	0.00000629	825
Loss of Function	0.0837	28	28.5	0.983	0.00000138	321

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00281	0.00281
Ashkenazi Jewish	0.00	0.00
East Asian	0.00147	0.00147
Finnish	0.00	0.00
European (Non-Finnish)	0.000458	0.000457
Middle Eastern	0.00147	0.00147
South Asian	0.00535	0.00521
Other	0.000656	0.000652

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto- 3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329). {ECO:0000269|PubMed:24697329}.;
Pathway: Fructose and mannose metabolism - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.235

Intolerance Scores

loftool: 0.981
rvis_EVS: 0.58
rvis_percentile_EVS: 82.25

Haploinsufficiency Scores

pHI: 0.314
hipred: N
hipred_score: 0.144
ghis: 0.468

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.109

Gene Damage Prediction

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

Zebrafish Information Network

Gene name: enosf1
Affected structure: trunk
Phenotype tag: abnormal
Phenotype quality: apoptotic

Gene ontology

Biological process: cellular amino acid catabolic process;cellular carbohydrate catabolic process
Cellular component: cellular_component;mitochondrion
Molecular function: magnesium ion binding;isomerase activity;L-fuconate dehydratase activity