BRAT1 (BRCA1 associated ATM activator 1)

2016-10-01  

Identity

HGNC
BRAT1
LOCATION
7p22.3
LOCUSID
221927
ALIAS
BAAT1,C7orf27,NEDCAS,RMFSL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 221927
MIM: 614506
HGNC: 21701
Ensembl: ENSG00000106009

Variants:

dbSNP: 221927
ClinVar: 221927
TCGA: ENSG00000106009
COSMIC: BRAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106009ENST00000340611Q6PJG6
ENSG00000106009ENST00000421712F8WDN5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
388052752024Neuronal differentiation requires BRAT1 complex to remove REST from chromatin.1
388052752024Neuronal differentiation requires BRAT1 complex to remove REST from chromatin.1
363673472023Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.2
365996962023Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.0
373445712023BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.1
363673472023Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.2
365996962023Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.0
373445712023BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.1
337904132022Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.7
347475462022Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.9
360285122022BRAT1 links Integrator and defective RNA processing with neurodegeneration.6
337904132022Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.7
347475462022Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.9
360285122022BRAT1 links Integrator and defective RNA processing with neurodegeneration.6
323450872021A 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/css/lib/favicon/js/lib/popper.js