ENOSF1
protein-codingenolase superfamily member 1
Gene summary
This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~42.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ENOSF1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_017512.7. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 79 | 1 | 80 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 82 | 2 | 0 | 84 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_059982.2 | 16 | MANE Select | |
| Ensembl | ENSP00000497230.2 | 16 | MANE Select | |
| RefSeq | NP_001305689.1 | 9 | Standard | |
| RefSeq | NP_001340994.1 | 14 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| enosf1 | Danio rerio | Structure: trunk Quality: apoptotic abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Fructose and mannose metabolism - Homo sapiens (human)
Biological Process
- cellular amino acid catabolic process
- cellular carbohydrate catabolic process
Molecular Function
- magnesium ion binding
- isomerase activity
- L-fuconate dehydratase activity
Cellular Component
- cellular_component
- mitochondrion
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000340116
- Coding exons
- 15
- Length
- 42353
- Individuals with no LoFs
- 125437
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 309
- Defined
- 125748
- p
- 0.00124
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.268 | 276 | 264 | 1.05 | 0.0000136 | 2983 |
| Missense (PolyPhen) | 102 | 96.859 | 1.0531 | 1141 | ||
| Synonymous | -0.00504 | 104 | 104 | 1.00 | 0.00000629 | 825 |
| Loss of Function | 0.0837 | 28 | 28.5 | 0.983 | 0.00000138 | 321 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0015 | 0.0015 | notable |
| Latino/Admixed American | 0.0013 | 0.0013 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0015 | 0.0015 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00046 | 0.00046 | rare |
| South Asian | 0.0054 | 0.0052 | notable |
| Other | 0.00066 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto- 3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329). {ECO:0000269|PubMed:24697329}.;
Recessive Scores
- pRec
- 0.235
Intolerance Scores
- LoFtool
- 0.981
- RVIS EVS
- 0.58
- RVIS percentile EVS
- 82.25
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.109
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |