ENOSF1

enolase superfamily member 1

Basic information

Region (hg38): 18:670317-712662

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.

• Inborn genetic diseases (23 variants)
• not provided (4 variants)
• Dyskeratosis congenita (1 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.

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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding	1		3	2	1	7
Total	1	0	22	3	1

Variants in ENOSF1

This is a list of pathogenic ClinVar variants found in the ENOSF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-670825-C-T			Likely benign (Feb 01, 2023)
18-670845-T-C		not specified	Uncertain significance (May 18, 2023)
18-671433-C-T			Likely benign (Jun 08, 2018)
18-672866-C-T		Dyskeratosis congenita	Pathogenic (Jun 22, 2022)
18-673086-A-G			Benign (Jul 15, 2020)
18-674324-A-C		not specified	Uncertain significance (Feb 13, 2024)
18-675338-A-G		not specified	Uncertain significance (Aug 17, 2022)
18-675343-C-T		not specified	Likely benign (May 31, 2023)
18-675344-G-A		not specified	Uncertain significance (Sep 06, 2022)
18-675346-T-G		not specified	Uncertain significance (Apr 19, 2023)
18-675356-C-G		not specified	Uncertain significance (Dec 15, 2022)
18-677381-A-G		not specified	Uncertain significance (Aug 16, 2022)
18-677408-C-G		not specified	Uncertain significance (Sep 20, 2023)
18-677418-C-T		not specified	Uncertain significance (Mar 02, 2023)
18-677452-G-A			Likely benign (Apr 01, 2023)
18-677773-A-G		not specified	Uncertain significance (Feb 12, 2024)
18-677811-A-G		not specified	Uncertain significance (Mar 07, 2024)
18-677842-G-T		not specified	Uncertain significance (Dec 27, 2023)
18-683338-C-T		not specified	Uncertain significance (Jan 26, 2022)
18-683343-G-A		not specified	Uncertain significance (Dec 19, 2022)
18-683377-T-A		not specified	Uncertain significance (Dec 08, 2023)
18-683380-T-C		not specified	Uncertain significance (Jul 25, 2023)
18-685934-G-A		not specified	Uncertain significance (Nov 17, 2022)
18-688586-T-C		not specified	Uncertain significance (Mar 01, 2024)
18-688592-A-G		not specified	Uncertain significance (Feb 15, 2023)

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