ENO4

enolase 4, the group of Enolases

Basic information

Region (hg38): 10:116849499-116911788

Previous symbols: [ "C10orf134" ]

Links

ENSG00000188316NCBI:387712OMIM:131375HGNC:31670Uniprot:A6NNW6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENO4 gene.

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.

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
1
clinvar
1
missense
36
clinvar
1
clinvar
37
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 36 1 1

Variants in ENO4

This is a list of pathogenic ClinVar variants found in the ENO4 region.

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

Position Type Phenotype Significance ClinVar
10-116849607-G-C not specified Uncertain significance (Jun 22, 2021)2235715
10-116849631-A-G not specified Uncertain significance (Jul 27, 2022)2303831
10-116849678-G-A not specified Uncertain significance (Jan 31, 2022)2253853
10-116849716-C-A not specified Uncertain significance (Oct 26, 2021)2391230
10-116849718-T-C not specified Uncertain significance (Jun 28, 2023)2606812
10-116849728-C-A not specified Uncertain significance (May 01, 2024)3275445
10-116855659-A-C not specified Uncertain significance (Mar 16, 2022)2212558
10-116855669-T-C not specified Uncertain significance (Apr 18, 2023)2513992
10-116856495-G-A not specified Likely benign (Dec 28, 2022)2207481
10-116856585-G-A not specified Uncertain significance (Jun 06, 2023)2557103
10-116856625-C-T not specified Uncertain significance (Mar 05, 2024)3088915
10-116856651-T-C not specified Uncertain significance (Aug 17, 2021)2356709
10-116858997-T-C not specified Uncertain significance (Dec 15, 2022)2222096
10-116859000-G-A not specified Uncertain significance (Jul 20, 2021)2404513
10-116859037-T-C not specified Uncertain significance (Aug 05, 2021)2402081
10-116860844-G-A not specified Uncertain significance (Jan 07, 2022)2270784
10-116860844-G-C not specified Uncertain significance (Jul 06, 2021)2235367
10-116860859-G-A not specified Uncertain significance (May 08, 2023)2545081
10-116860875-G-A not specified Uncertain significance (Aug 10, 2021)2242783
10-116860901-G-C not specified Uncertain significance (Jan 30, 2024)3088916
10-116861137-A-C not specified Uncertain significance (May 23, 2024)3275446
10-116862805-G-A not specified Uncertain significance (Jun 26, 2023)2589268
10-116868681-G-A not specified Uncertain significance (Dec 15, 2022)2335818
10-116871134-A-T not specified Uncertain significance (Oct 03, 2022)2220969
10-116871142-G-T not specified Uncertain significance (Mar 25, 2024)3275448

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ENO4protein_codingprotein_codingENST00000409522 762277
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.05e-70.30700000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2841361460.9340.000007211994
Missense in Polyphen2223.3820.94088296
Synonymous1.064453.90.8170.00000280607
Loss of Function0.3551011.30.8865.64e-7155

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

pHI
hipred
hipred_score
ghis
0.500

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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