Gene
DBR1
debranching RNA lariats 1
- HGNC 15594↗(opens in a new tab)
- Ensembl gene ENSG00000138231↗(opens in a new tab)
- NCBI Gene 51163↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q22.3
- Coordinates
- Chromosome 3: 138,160,988–138,174,921 (GRCh38)
- Exons
- 8 exons across 13.9 kb
- Protein
- 544 amino acids
- MANE Select transcript
- ENST00000260803.9NM_016216.4
- 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 DBR1 yet. The test sequences your whole genome, so your data includes it all the same.
How DBR1 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 2.7 kb of the gene's 13.9 kb; 1,635 of those bases code for the protein.
How a genome test reads DBR1
1
position in DBR1 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 13.9 kb of DBR1, introns included, not only the 2.7 kb of exons.
Traits linked to DBR1
The Human Phenotype Ontology lists these as features of the rare conditions DBR1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Encephalopathy
- Epilepsy
- Increased reflexes
- Abnormal pyramidal sign
- Cerebral dysmyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Difficulty articulating speech
Show 13 more traits
- Diffuse cerebellar atrophy
- Generalized hyperreflexia
- Generalized-onset seizure
- Global developmental delay
- Inability to coordinate movements when walking
- Intention tremor
- Mild global developmental delay
- Paraplegia/paraparesis
- Partial agenesis of the corpus callosum
- Peripheral neuropathy
- Periventricular leukomalacia
- Poor social interactions
- Ventriculomegaly
Abnormality of the musculoskeletal system
- Low solidness and mass of the bones
- Absent fat below the skin
- Delayed bone maturation
- Generalized decreased muscle tone
- Increased bone mineral density
- Involuntary muscle stiffness, contraction, or spasm
- Joint dislocation
- Multiple joint contractures
Show 3 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.). DBR1 gene: debranching RNA lariats 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/dbr1
Dante Labs. DBR1 gene: debranching RNA lariats 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dbr1
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