BRAT1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- BRAT1 (HGNC:21701) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- BRCA1 associated ATM activator 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C7orf27, BAAT1
- Alias symbols
- MGC22916
- %HI
- 81.22(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.39(Read more about gnomAD LOEUF score)
- Cytoband
- 7p22.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:2577444-2595158 NCBI Ensembl UCSC GRCh38/hg38: chr7:2537810-2555524 NCBI Ensembl UCSC - MANE Select Transcript
- NM_152743.4 ENST00000340611.9 (Read more about MANE Select)
- Function
- Involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR- related proteins, and cell cycle progress by growth factors (PubMed:25657994). {ECO:0000269|PubMed:16452482, ECO:0000269|PubMed:22977523, ECO:0000269|PubMed:25070371, ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-905
ClinGen Curation ID:
CCID:006759
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- neonatal-onset encephalopathy with rigidity and seizures Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)