ENO4
Basic information
Region (hg38): 10:116849499-116911788
Previous symbols: [ "C10orf134" ]
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 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 | |||||
missense | 36 | 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) | ||
10-116849631-A-G | not specified | Uncertain significance (Jul 27, 2022) | ||
10-116849678-G-A | not specified | Uncertain significance (Jan 31, 2022) | ||
10-116849716-C-A | not specified | Uncertain significance (Oct 26, 2021) | ||
10-116849718-T-C | not specified | Uncertain significance (Jun 28, 2023) | ||
10-116849728-C-A | not specified | Uncertain significance (May 01, 2024) | ||
10-116855659-A-C | not specified | Uncertain significance (Mar 16, 2022) | ||
10-116855669-T-C | not specified | Uncertain significance (Apr 18, 2023) | ||
10-116856495-G-A | not specified | Likely benign (Dec 28, 2022) | ||
10-116856585-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
10-116856625-C-T | not specified | Uncertain significance (Mar 05, 2024) | ||
10-116856651-T-C | not specified | Uncertain significance (Aug 17, 2021) | ||
10-116858997-T-C | not specified | Uncertain significance (Dec 15, 2022) | ||
10-116859000-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
10-116859037-T-C | not specified | Uncertain significance (Aug 05, 2021) | ||
10-116860844-G-A | not specified | Uncertain significance (Jan 07, 2022) | ||
10-116860844-G-C | not specified | Uncertain significance (Jul 06, 2021) | ||
10-116860859-G-A | not specified | Uncertain significance (May 08, 2023) | ||
10-116860875-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
10-116860901-G-C | not specified | Uncertain significance (Jan 30, 2024) | ||
10-116861137-A-C | not specified | Uncertain significance (May 23, 2024) | ||
10-116862805-G-A | not specified | Uncertain significance (Jun 26, 2023) | ||
10-116868681-G-A | not specified | Uncertain significance (Dec 15, 2022) | ||
10-116871134-A-T | not specified | Uncertain significance (Oct 03, 2022) | ||
10-116871142-G-T | not specified | Uncertain significance (Mar 25, 2024) |
GnomAD
Source:
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:
- 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
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