Gene
ERI1
exoribonuclease 1
- HGNC 23994↗(opens in a new tab)
- Ensembl gene ENSG00000104626↗(opens in a new tab)
- NCBI Gene 90459↗(opens in a new tab)
Summary
- Cytogenetic location
- 8p23.1
- Coordinates
- Chromosome 8: 9,002,897–9,033,338 (GRCh38)
- Exons
- 7 exons across 30.4 kb
- Protein
- 349 amino acids
- Also known as
- 3'HEXO
- Previous symbols
- THEX1
- MANE Select transcript
- ENST00000250263.8NM_153332.4
- 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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How ERI1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.5 kb of the gene's 30.4 kb; 1,050 of those bases code for the protein.
How a genome test reads ERI1
10
positions in ERI1 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 30.4 kb of ERI1, introns included, not only the 4.5 kb of exons.
Traits linked to ERI1
The Human Phenotype Ontology lists these as features of the rare conditions ERI1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Absent 5th long bone of foot
- Absent fingers
- Absent toe phalanx flexion crease
- Attachment of thumb close to wrist
- Broad foot
- Contracture of the proximal interphalangeal joint of the 4th finger
- Curvature of index finger
- Curvature of little finger
Show 26 more traits
- Curvature of middle finger
- Dislocated kneecap
- Dislocated radial head
- Dropped arches
- Hip dislocation
- Increased mobility in finger joint
- Limb undergrowth
- Limited elbow extension
- Overlapping toe
- Pseudoepiphyses of hand bones
- Short 4th long bone of foot
- Short 4th toe
- Short 5th long bone of foot
- Short fingers or toes
- Short foot
- Short outermost finger bone
- Short outermost little finger bone
- Short palm
- Short proximal phalanx of thumb
- Shortened 5th long bone of hand
- Shortened long bone of hand
- Thickening of shaft or central part of long bones
- Ulnar deviation of the hand
- Webbed fingers or toes
- Missing toes
- Absent toe
Abnormality of the musculoskeletal system
- Decreased hip abduction
- Delayed bone maturation
- Flattened vertebrae
- Generalized decreased muscle tone
- Increased vertebral height
- Osteopenia
- Pigeon chest
- Scoliosis
Show 2 more traits
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.). ERI1 gene: exoribonuclease 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/eri1
Dante Labs. ERI1 gene: exoribonuclease 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eri1
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