ENO4

enolase 4, the group of Enolases

Basic information

Region (hg38): 10:116849499-116911788

Previous symbols: [ "C10orf134" ]

Links

ENSG00000188316 ∙ NCBI:387712 ∙ OMIM:131375 ∙ HGNC:31670 ∙ Uniprot:A6NNW6 ∙ 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 ENO4 gene.

• not_specified (87 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENO4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001242699.2. 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					1	1
missense			83	4		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENO4	protein_coding	protein_coding	ENST00000409522	7	62277

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.05e-7	0.307	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.284	136	146	0.934	0.00000721	1994
Missense in Polyphen		22	23.382	0.94088		296
Synonymous	1.06	44	53.9	0.817	0.00000280	607
Loss of Function	0.355	10	11.3	0.886	5.64e-7	155

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: May be required for sperm motility and function. {ECO:0000250|UniProtKB:Q8C042}.
• Pathway: Glycolysis / Gluconeogenesis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA degradation - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• ghis: 0.500

Essentials

• essential_gene_CRISPR2: N
• 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

Mouse Genome Informatics

• Gene name: Eno4
• Phenotype: reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: glycolytic process;biological_process
• Cellular component: phosphopyruvate hydratase complex;cellular_component
• Molecular function: magnesium ion binding;molecular_function;phosphopyruvate hydratase activity