ENO2
Basic information
Region (hg38): 12:6913745-6923698
Links
Phenotypes
GenCC
Source:
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 ENO2 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 | 2 | |||||
missense | 16 | 16 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 1 | |||||
Total | 0 | 0 | 16 | 2 | 1 |
Variants in ENO2
This is a list of pathogenic ClinVar variants found in the ENO2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-6916426-G-A | not specified | Uncertain significance (Mar 22, 2023) | ||
12-6916476-C-A | not specified | Uncertain significance (Apr 23, 2024) | ||
12-6916497-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
12-6917050-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
12-6917072-A-G | not specified | Uncertain significance (Jun 07, 2024) | ||
12-6917572-A-C | Benign (May 24, 2018) | |||
12-6917622-G-A | not specified | Uncertain significance (Jul 25, 2023) | ||
12-6917679-C-T | ENO2-related disorder | Likely benign (Feb 26, 2019) | ||
12-6917696-C-T | ENO2-related disorder | Likely benign (Jun 06, 2019) | ||
12-6918029-T-G | not specified | Uncertain significance (Oct 03, 2022) | ||
12-6918040-T-C | not specified | Uncertain significance (Aug 30, 2022) | ||
12-6918043-G-A | not specified | Uncertain significance (Feb 13, 2024) | ||
12-6918064-A-G | not specified | Uncertain significance (Jan 29, 2024) | ||
12-6918096-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
12-6918142-A-G | not specified | Uncertain significance (Mar 31, 2024) | ||
12-6919615-G-T | not specified | Uncertain significance (Jun 29, 2023) | ||
12-6919704-G-A | not specified | Uncertain significance (Apr 09, 2024) | ||
12-6919704-G-T | not specified | Uncertain significance (May 25, 2022) | ||
12-6921706-G-A | not specified | Uncertain significance (Jan 04, 2024) | ||
12-6922106-C-T | not specified | Uncertain significance (May 11, 2022) | ||
12-6922344-A-G | not specified | Uncertain significance (Nov 15, 2021) | ||
12-6922366-G-A | not specified | Uncertain significance (Nov 22, 2022) | ||
12-6922402-G-GGTGA | Hereditary breast ovarian cancer syndrome | Uncertain significance (Aug 01, 2020) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ENO2 | protein_coding | protein_coding | ENST00000535366 | 11 | 9953 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.384 | 0.616 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.81 | 180 | 263 | 0.686 | 0.0000155 | 2824 |
Missense in Polyphen | 65 | 119.91 | 0.54208 | 1342 | ||
Synonymous | 0.427 | 97 | 103 | 0.946 | 0.00000572 | 883 |
Loss of Function | 3.40 | 5 | 22.3 | 0.224 | 0.00000122 | 249 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000119 | 0.000119 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.000372 | 0.000370 |
European (Non-Finnish) | 0.0000353 | 0.0000352 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Has neurotrophic and neuroprotective properties on a broad spectrum of central nervous system (CNS) neurons. Binds, in a calcium-dependent manner, to cultured neocortical neurons and promotes cell survival (By similarity). {ECO:0000250}.;
- Pathway
- Glycolysis / Gluconeogenesis - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA degradation - Homo sapiens (human);Pathways in clear cell renal cell carcinoma;Glycolysis and Gluconeogenesis;Metabolism of carbohydrates;Citrate cycle;Glycolysis Gluconeogenesis;Glycolysis and Gluconeogenesis;TCR;Metabolism;Glycolysis;gluconeogenesis;glycolysis;superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle;Gluconeogenesis;Glucose metabolism
(Consensus)
Recessive Scores
- pRec
- 0.858
Intolerance Scores
- loftool
- 0.523
- rvis_EVS
- -0.41
- rvis_percentile_EVS
- 26.23
Haploinsufficiency Scores
- pHI
- 0.854
- hipred
- Y
- hipred_score
- 0.793
- ghis
- 0.597
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.944
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eno2
- Phenotype
- cellular phenotype; craniofacial phenotype; growth/size/body region phenotype; taste/olfaction phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- gluconeogenesis;glycolytic process;canonical glycolysis
- Cellular component
- phosphopyruvate hydratase complex;photoreceptor inner segment;extracellular space;cytosol;plasma membrane;membrane;perikaryon;myelin sheath;extracellular exosome
- Molecular function
- magnesium ion binding;phosphopyruvate hydratase activity;protein binding