Gene
BRAT1
BRCA1 associated ATM activator 1
- HGNC 21701↗(opens in a new tab)
- Ensembl gene ENSG00000106009↗(opens in a new tab)
- NCBI Gene 221927↗(opens in a new tab)
Summary
- Cytogenetic location
- 7p22.3
- Coordinates
- Chromosome 7: 2,537,810–2,555,524 (GRCh38)
- Exons
- 14 exons across 17.7 kb
- Protein
- 821 amino acids
- Also known as
- MGC22916
- Previous symbols
- C7orf27, BAAT1
- MANE Select transcript
- ENST00000340611.9NM_152743.4
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How BRAT1 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 2.8 kb of the gene's 17.7 kb; 2,466 of those bases code for the protein.
How a genome test reads BRAT1
87
positions in BRAT1 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 17.7 kb of BRAT1, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to BRAT1
The Human Phenotype Ontology lists these as features of the rare conditions BRAT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Degeneration of cerebellum
- Exaggerated startle response
- Focal impaired awareness seizure
- Global developmental delay
- Increased reflexes
- Myoclonic spasms
- Seizure affecting one half of brain
- Delayed CNS myelination
Show 22 more traits
- EEG with burst suppression
- Focal motor status epilepticus
- Generalized myoclonic seizure
- Thin corpus callosum
- Abnormal autonomic nervous system physiology
- Abnormality of the cerebellum
- Absent speech development
- Agitation
- Babinski sign
- Clonus
- Delayed ability to walk
- Delayed speech and language development
- Epilepsy
- Gliosis
- Inability to coordinate movements when walking
- Intellectual disability
- Lack of coordination of movement
- Loss of brain cells
- Multifocal seizures
- Tremor
- Truncal titubation
- Underdevelopment of part of brain called corpus callosum
Abnormality of head or neck
- Development of small head that was not present at birth
- Little lower jaw
- Abnormally small head
- Broad face
- Decreased volume of lip
- Eye folds
- High palate
- Long philtrum
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). BRAT1 gene: BRCA1 associated ATM activator 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/brat1
Dante Labs. BRAT1 gene: BRCA1 associated ATM activator 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/brat1
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