Identity
HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
BAAT1,C7orf27,NEDCAS,RMFSL
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 221927
MIM: 614506
HGNC: 21701
Ensembl: ENSG00000106009
Variants:
dbSNP: 221927
ClinVar: 221927
TCGA: ENSG00000106009
COSMIC: BRAT1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000106009 | ENST00000340611 | Q6PJG6 |
| ENSG00000106009 | ENST00000421712 | F8WDN5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38805275 | 2024 | Neuronal differentiation requires BRAT1 complex to remove REST from chromatin. | 1 |
| 38805275 | 2024 | Neuronal differentiation requires BRAT1 complex to remove REST from chromatin. | 1 |
| 36367347 | 2023 | Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome. | 2 |
| 36599696 | 2023 | Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. | 0 |
| 37344571 | 2023 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | 1 |
| 36367347 | 2023 | Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome. | 2 |
| 36599696 | 2023 | Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. | 0 |
| 37344571 | 2023 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | 1 |
| 33790413 | 2022 | Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome. | 7 |
| 34747546 | 2022 | Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. | 9 |
| 36028512 | 2022 | BRAT1 links Integrator and defective RNA processing with neurodegeneration. | 6 |
| 33790413 | 2022 | Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome. | 7 |
| 34747546 | 2022 | Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. | 9 |
| 36028512 | 2022 | BRAT1 links Integrator and defective RNA processing with neurodegeneration. | 6 |
| 32345087 | 2021 | A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal. | 6 |
Citation
Dessen P
BRAT1 (BRCA1 associated ATM activator 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56397/brat1-(brca1-associated-atm-activator-1)
