BRCA1
Information BRCA1
- Description
This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
- Full Name
BRCA1 DNA repair associated
Source NCBI
- Species
Homo sapiens [tax_id: 9606]
- Genome
hg38
ReMap Statistics
- Datasets
- 11
- Biotypes
- 10
- Peaks
- 94,361
- Non-redundant peaks
- 68,020
TF Classification
- Super Class
- NA
- Class
- NA
- Familly
- NA
- Sub Familly
- NA
Source TFClass
Datasets Table for BRCA1
Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |
---|---|---|---|---|---|---|---|---|
BRCA1 | SH-EP | pWZL-MYCNwt | GEO | Homo sapiens | GSE111905 | 10,827 | ||
BRCA1 | SH-EP | MYCNER_plusOHT | GEO | Homo sapiens | GSE111905 | 12,280 | ||
BRCA1 | MCF-10A | GEO | Homo sapiens | GSE40591 | 16,326 | |||
BRCA1 | WA01 | ENCODE | Homo sapiens | ENCSR000EBX | 2,359 | |||
BRCA1 | K-562 | ENCODE | Homo sapiens | ENCSR223MLH | 25,914 | |||
BRCA1 | Hep-G2 | ENCODE | Homo sapiens | ENCSR000EDY | 4,011 | |||
BRCA1 | A-549 | ENCODE | Homo sapiens | ENCSR857KDI | 2,325 | |||
BRCA1 | TC-32 | GEO | Homo sapiens | GSE87324 | 3,258 | |||
BRCA1 | GM12878 | ENCODE | Homo sapiens | ENCSR000DZS | 486 | |||
BRCA1 | U2OS | GEO | Homo sapiens | GSE87324 | 3,569 | |||
BRCA1 | HeLa-S3 | ENCODE | Homo sapiens | ENCSR000EDB | 13,006 | |||
Target name | Target modification | Ecotype/Strain | Biotype | Biotype modification | Source | Species | Experiment | Peaks |