ENO1
enolase 1, the group of MicroRNA protein coding host genes|Enolases
Basic information
Region (hg38): 1:8861000-8879190
Previous symbols: [ "ENO1L1", "MPB1", "ENO1-IT1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENO1 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 | 3 | |||||
| missense | 15 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 15 | 2 | 2 |
Variants in ENO1
This is a list of pathogenic ClinVar variants found in the ENO1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-8861360-T-C | Benign (Jan 11, 2018) | |||
| 1-8861385-T-C | not specified | Uncertain significance (Jul 14, 2021) | ||
| 1-8861395-C-G | not specified | Uncertain significance (May 09, 2023) | ||
| 1-8861413-C-T | not specified | Uncertain significance (Sep 26, 2023) | ||
| 1-8863273-A-G | not specified | Uncertain significance (Apr 22, 2024) | ||
| 1-8863959-G-T | not specified | Uncertain significance (Dec 28, 2023) | ||
| 1-8864062-T-C | not specified | Uncertain significance (Jun 09, 2022) | ||
| 1-8864084-T-C | not specified | Uncertain significance (Apr 25, 2022) | ||
| 1-8865290-T-G | not specified | Uncertain significance (Jan 26, 2022) | ||
| 1-8865344-C-A | not specified | Uncertain significance (Feb 02, 2022) | ||
| 1-8865415-G-A | Benign (Jun 29, 2018) | |||
| 1-8865492-G-A | Likely benign (Jun 18, 2018) | |||
| 1-8866297-T-C | not specified | Uncertain significance (Apr 07, 2023) | ||
| 1-8866312-C-T | not specified | Uncertain significance (Apr 20, 2024) | ||
| 1-8866399-G-A | not specified | Uncertain significance (Apr 25, 2022) | ||
| 1-8867245-A-C | not specified | Uncertain significance (May 13, 2022) | ||
| 1-8871897-C-T | not specified | Uncertain significance (Apr 07, 2023) | ||
| 1-8871910-C-T | Likely benign (Jun 14, 2018) | |||
| 1-8871941-T-C | not specified | Uncertain significance (Feb 06, 2024) | ||
| 1-8871971-G-C | not specified | Uncertain significance (Jul 12, 2023) | ||
| 1-8871974-G-C | not specified | Uncertain significance (Nov 16, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ENO1 | protein_coding | protein_coding | ENST00000234590 | 11 | 18248 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000191 | 0.975 | 125701 | 0 | 47 | 125748 | 0.000187 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.838 | 219 | 257 | 0.853 | 0.0000150 | 2856 |
| Missense in Polyphen | 45 | 73.857 | 0.60928 | 1027 | ||
| Synonymous | -0.228 | 109 | 106 | 1.03 | 0.00000690 | 858 |
| Loss of Function | 2.03 | 11 | 21.1 | 0.522 | 0.00000108 | 245 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000181 | 0.000181 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.000272 | 0.000272 |
| Finnish | 0.000602 | 0.000601 |
| European (Non-Finnish) | 0.000123 | 0.000123 |
| Middle Eastern | 0.000272 | 0.000272 |
| South Asian | 0.000294 | 0.000294 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production.;
- Pathway
- Glycolysis / Gluconeogenesis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA degradation - Homo sapiens (human);Warburg Effect;Glycolysis;Glycogenosis, Type VII. Tarui disease;Gluconeogenesis;Glycogenosis, Type IA. Von gierke disease;Glycogenosis, Type IC;Fanconi-bickel syndrome;Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease;Triosephosphate isomerase;Fructose-1,6-diphosphatase deficiency;Phosphoenolpyruvate carboxykinase deficiency 1 (PEPCK1);Glycogenosis, Type IB;Pathways in clear cell renal cell carcinoma;Glycolysis and Gluconeogenesis;Metabolism of carbohydrates;Citrate cycle;Glycolysis Gluconeogenesis;Glycolysis and Gluconeogenesis;Metabolism;Glycolysis;EGFR1;gluconeogenesis;glycolysis;superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle;Notch signaling pathway;Gluconeogenesis;Glucose metabolism;Validated targets of C-MYC transcriptional activation;HIF-1-alpha transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.123
Intolerance Scores
- loftool
- 0.774
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.16
Haploinsufficiency Scores
- pHI
- 0.355
- hipred
- Y
- hipred_score
- 0.737
- ghis
- 0.644
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eno1
- Phenotype
- growth/size/body region phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;gluconeogenesis;response to virus;positive regulation of plasminogen activation;negative regulation of cell growth;negative regulation of transcription, DNA-templated;positive regulation of muscle contraction;canonical glycolysis;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;positive regulation of ATP biosynthetic process
- Cellular component
- phosphopyruvate hydratase complex;extracellular space;nucleus;cytoplasm;cytosol;plasma membrane;cell surface;membrane;M band;extracellular exosome;cell cortex region
- Molecular function
- magnesium ion binding;RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;RNA binding;phosphopyruvate hydratase activity;protein binding;protein homodimerization activity;cadherin binding;GTPase binding