Gene
TOE1
target of EGR1, exonuclease
- HGNC 15954↗(opens in a new tab)
- Ensembl gene ENSG00000132773↗(opens in a new tab)
- NCBI Gene 114034↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p34.1
- Coordinates
- Chromosome 1: 45,340,170–45,343,973 (GRCh38)
- Exons
- 8 exons across 3.8 kb
- Protein
- 510 amino acids
- Also known as
- hCaf1z, TOE-1
- MANE Select transcript
- ENST00000372090.6NM_025077.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TOE1 yet. The test sequences your whole genome, so your data includes it all the same.
How TOE1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 3.8 kb; 1,533 of those bases code for the protein.
How a genome test reads TOE1
12
positions in TOE1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3.8 kb of TOE1, introns included, not only the 1.9 kb of exons.
Traits linked to TOE1
The Human Phenotype Ontology lists these as features of the rare conditions TOE1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Hypoplasia of the pons
- Intellectual disability
- Small brainstem
- Increased reflexes
- Abnormal cerebral morphology
- Abnormal cerebral white matter morphology
- Ataxia
Show 13 more traits
Abnormality of the genitourinary system
- Ambiguous external genitalia
- Undescended testes
- Short penis
- Abnormal scrotal rugation
- Absent penis
- Absent uterus
- Enlarged clitoris
- Gonadal dysgenesis
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TOE1 gene: target of EGR1, exonuclease. Retrieved 16 October 2026, from https://dantelabs.com/genes/toe1
Dante Labs. TOE1 gene: target of EGR1, exonuclease [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/toe1
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