Gene Name	BRCA1
Gene ID	672
Gene Full Name	BRCA1 DNA repair associated
Gene Alias	BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53
Transcripts	ENSG00000012048
Virus	HIV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm, Nuclear bodies;
Membrane Info	Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Uniport_ID	P38398
HGNC ID	HGNC:1100
OMIM ID	113705
Summary	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]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
4001695	chr17	43	40	57	140	View
4008042	chr17	10	1	5	16	View
4009021	chr17	13	0	0	13	View
4009874	chr17	10	0	0	10	View
4011064	chr17	2	5	0	7	View

Data ID	Experiment type	Sample number	Platform
GSE99737	RNA-seq	9	Illumina HiSeq 2500 (Homo sapiens)
GSE144332	RNA-seq	75	NextSeq 550 (Homo sapiens)
GSE157829	scRNA-seq	7	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165705	Chip-seq	30	Illumina NovaSeq 6000 (Homo sapiens)
GSE164264	RNA-seq	6	BGISEQ-500 (Homo sapiens)
C   GSE30738	Chip-seq	2	Illumina Genome Analyzer II (Homo sapiens)
GSE262621	RNA-seq	70	Illumina NovaSeq 6000 (Homo sapiens)
GSE128121	RNA-seq	16	Illumina HiSeq 4000 (Homo sapiens)
GSE162914	RNA-seq	211	Illumina HiSeq 2500 (Homo sapiens)
GSE187515	scRNA-seq	104	Illumina MiSeq (Homo sapiens);Illumina HiSeq 4000 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE279982	Methylation profiling (Array)	576	Infinium MethylationEPIC
C   GSE144329	ATAC-seq	96	NextSeq 550 (Homo sapiens)
GSE205204	RNA-seq	14	Illumina NovaSeq 6000 (Homo sapiens)
GSE125686	RNA-seq	62	Illumina HiSeq 2000 (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens)
GSE233747	scRNA-seq	40	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE220859	Chip-seq	11	Illumina NovaSeq 6000 (Homo sapiens)
GSE165708	RNA-seq	100	Illumina HiSeq 4000 (Homo sapiens)
C   GSE211651	Chip-seq;RNA-seq;PRO-seq	39	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE68028	MeDIP-chip	1	NimbleGen Human DNA Methylation 2.1M Deluxe Promoter Array [100929_HG19_Deluxe_Prom_Meth_HX1]
C   GSE100376	ATAC-seq	24	Illumina NextSeq 500 (Homo sapiens)
GSE167211	RNA-seq	1	Illumina HiSeq 2000 (Homo sapiens)
GSE165132	RNA-seq	56	NextSeq 550 (Homo sapiens)
GSE228078	scRNA-seq	12	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE100266	ATAC-seq;Chip-seq;RNA-seq	32	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165703	ATAC-seq	82	Illumina HiSeq 4000 (Homo sapiens)
GSE246082	RNA-seq	6	Illumina HiSeq 4000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE165705 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE30738 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE144329 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE220859 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE211651 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE100376 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE100266 - BRCA1 peak across samples

Peak Plot

> Dataset: GSE165703 - BRCA1 peak across samples

Peak Plot