BRCA1

BRCA1 DNA repair associated, the group of Ring finger proteins|FA complementation groups|BRCA1 B complex|BRCA1 C complex|BRCA1 A complex|Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 17:43044294-43170245

Links

ENSG00000012048 ∙ NCBI:672 ∙ OMIM:113705 ∙ HGNC:1100 ∙ Uniprot:P38398 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• breast-ovarian cancer, familial, susceptibility to, 1 (Strong), mode of inheritance: AD
• pancreatic cancer, susceptibility to, 4 (Moderate), mode of inheritance: AD
• breast-ovarian cancer, familial, susceptibility to, 1 (Definitive), mode of inheritance: AD
• Fanconi anemia, complementation group S (Moderate), mode of inheritance: AR
• Fanconi anemia (Supportive), mode of inheritance: AR
• hereditary breast ovarian cancer syndrome (Supportive), mode of inheritance: AD
• Fanconi anemia complementation group A (Strong), mode of inheritance: AR
• Fanconi anemia, complementation group S (Limited), mode of inheritance: AR
• breast-ovarian cancer, familial, susceptibility to, 1 (Strong), mode of inheritance: AD
• breast-ovarian cancer, familial, susceptibility to, 1 (Definitive), mode of inheritance: AD
• Fanconi anemia, complementation group S (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S	AD/AR	Allergy/Immunology/Infectious; Cardiovascular; Hematologic; Oncologic	For hereditary cancer, though the availability of empirical data is incomplete as applies to both screening strategies and prophylactic treatment, surveillance is based on the age of affected family members (for breast cancer, surveillance includes self-examination as well as regular clinical examinations, mammography, and MRI; for ovarian cancer, screening includes regular pelvic examination, transvaginal ultrasounds with Doppler, and CA-125 measurement; for prostate cancer, screening includes regular rectal examination and PSA measurement); Prophylactic mastectomy and/or oophorectomy, as well as chemoprevention (eg, with tamoxifen) are described; Treatment of breast and ovarian cancer follows standard guidelines (ie, that apply more generally), though, new targeted therapies are under investigation; For individuals with metastatic Prostate cancer, management with PARP-inhibitors has been described as improving progression-free survival; For Fanconi anemia: specific treatments can help manifestations (eg, oral androgens for blood counts; G-CSF for neutrophil count), and HSCT can be curative, but solid tumor risk may remain; Surveillance for complications such as bone marrow failure is recommended; Fanconi anemia can involve congenital cardiac (and other) anomalies, and awareness may allow early management	Allergy/Immunology/Infectious; Cardiovascular; Craniofacial; Dermatologic; Hematologic; Musculoskeletal; Neurologic; Oncologic	7894491; 7894493; 7545954; 9012404; 9450858; 10441598; 10885351; 11157798; 12036267; 11463009; 11463017; 12023992; 12023993; 12161607; 14569130; 12677558; 17233897; 17307836; 18413374; 18349832; 18762988; 19656774; 19190154; 20216074; 20495085; 21531449; 22317870; 22614657; 23269703; 25472942; 29133208; 31157963
Variants may also predispose to a number of other malignancies

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BRCA1 gene.

• Breast-ovarian cancer, familial, susceptibility to, 1 (8076 variants)
• Hereditary cancer-predisposing syndrome (6746 variants)
• Hereditary breast ovarian cancer syndrome (6715 variants)
• not provided (2592 variants)
• not specified (1456 variants)
• Familial cancer of breast (460 variants)
• Breast and/or ovarian cancer (308 variants)
• Malignant tumor of breast (290 variants)
• Breast neoplasm (100 variants)
• Neoplasm of ovary (52 variants)
• BRCA1-related condition (44 variants)
• Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S (38 variants)
• Gastric cancer (36 variants)
• Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast (34 variants)
• Ovarian cancer (30 variants)
• Breast carcinoma (30 variants)
• Fanconi anemia, complementation group S (13 variants)
• Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast;Fanconi anemia, complementation group S (11 variants)
• Malignant tumor of urinary bladder (10 variants)
• Ovarian carcinoma (8 variants)
• Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1 (8 variants)
• Breast-ovarian cancer, familial, susceptibility to, 1;Hereditary breast ovarian cancer syndrome (8 variants)
• Endometrial carcinoma (7 variants)
• Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast (7 variants)
• Familial cancer of breast;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1 (7 variants)
• Fanconi anemia, complementation group S;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4 (6 variants)
• Breast-ovarian cancer, familial, susceptibility to, 2 (5 variants)
• Breast cancer, susceptibility to (5 variants)
• Familial cancer of breast;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4 (5 variants)
• Hereditary breast ovarian cancer syndrome;Breast-ovarian cancer, familial, susceptibility to, 1 (4 variants)
• Cancer of the pancreas (4 variants)
• Hereditary cancer (4 variants)
• Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Fanconi anemia, complementation group S (3 variants)
• Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S (3 variants)
• Carcinoma of pancreas (3 variants)
• Inborn genetic diseases (3 variants)
• Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4 (3 variants)
• Fanconi anemia complementation group A (2 variants)
• Familial cancer of breast;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S (2 variants)
• Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast (2 variants)
• - (2 variants)
• Familial cancer of breast;Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S (2 variants)
• Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1;Familial cancer of breast;Pancreatic cancer, susceptibility to, 4 (2 variants)
• Rhabdomyosarcoma (2 variants)
• Infiltrating duct carcinoma of breast (2 variants)
• Pancreatic cancer, susceptibility to, 4 (2 variants)
• Malignant tumor of prostate (2 variants)
• Abnormality of the ovary (1 variants)
• Pancreatic cancer, susceptibility to (1 variants)
• See cases (1 variants)
• Invasive medullary breast carcinoma (1 variants)
• Peritoneum cancer (1 variants)
• Breast and colorectal cancer (1 variants)
• Neoplasm of ovary;Lung cancer;Familial cancer of breast (1 variants)
• Carcinoma of colon (1 variants)
• Uterine corpus cancer (1 variants)
• bilateral breast cancer (1 variants)
• Burkitt lymphoma (1 variants)
• Breast-ovarian cancer, familial, susceptibility to, 1;Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Familial cancer of breast (1 variants)
• Neoplasm of ovary;Breast carcinoma (1 variants)
• Dysgerminoma (1 variants)
• Familial prostate carcinoma (1 variants)
• Colorectal cancer (1 variants)
• Pancreatic cancer, susceptibility to, 4;Familial cancer of breast;Fanconi anemia, complementation group S;Breast-ovarian cancer, familial, susceptibility to, 1 (1 variants)
• Triple-negative breast cancer (1 variants)
• Fanconi anemia, complementation group S;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1 (1 variants)
• Infant-type hemispheric glioma (1 variants)
• Familial breast and ovarian cancer (1 variants)
• Punctate palmoplantar keratoderma type 2 (1 variants)
• Breast-ovarian cancer, familial, susceptibility to, 1;Pancreatic cancer, susceptibility to, 4;Fanconi anemia, complementation group S (1 variants)
• Breast ductal adenocarcinoma (1 variants)
• Ovarian serous surface papillary adenocarcinoma (1 variants)
• Familial cancer of breast;Pancreatic cancer, susceptibility to, 4;Breast-ovarian cancer, familial, susceptibility to, 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRCA1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			22	1355	22	1399
missense	65	105	1285	194	139	1788
nonsense	586	23	7		1	617
start loss	7	4	3		2	16
frameshift	2255	112	9	1		2377
inframe indel	5	4	91		3	103
splice donor/acceptor (+/-2bp)	123	64	27	1	1	216
splice region	28	40	111	109	11	299
non coding	19	3	143	716	505	1386
Total	3060	315	1587	2267	673

Highest pathogenic variant AF is 0.000145

Variants in BRCA1

This is a list of pathogenic ClinVar variants found in the BRCA1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-43044315-T-A		not specified	Uncertain significance (Jan 20, 2017)
17-43044320-T-C		not specified	Uncertain significance (Mar 27, 2018)
17-43044335-CACA-C		Hereditary breast ovarian cancer syndrome	Uncertain significance (Aug 30, 2023)
17-43044342-T-C		not specified	Uncertain significance (Mar 06, 2018)
17-43044346-C-T		Breast-ovarian cancer, familial, susceptibility to, 1 • not specified	Benign (Jan 12, 2015)
17-43044351-C-T		Breast-ovarian cancer, familial, susceptibility to, 1 • not specified	Benign (Sep 28, 2016)
17-43044355-T-C		Hereditary breast ovarian cancer syndrome	Uncertain significance (Jun 14, 2016)
17-43044386-A-G		Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (Jan 13, 2018)
17-43044391-G-A		Breast-ovarian cancer, familial, susceptibility to, 1 • not specified	Benign (Jan 12, 2015)
17-43044392-G-A		Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary breast ovarian cancer syndrome	Likely benign (Aug 17, 2023)
17-43044393-G-T		Hereditary breast ovarian cancer syndrome	Uncertain significance (Jun 14, 2016)
17-43044397-G-A		Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance (Jan 12, 2018)
17-43044407-A-G		Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 01, 2023)
17-43044492-T-C		not specified	Uncertain significance (Jul 30, 2018)
17-43044539-C-A		Hereditary breast ovarian cancer syndrome	Likely benign (May 15, 2023)
17-43044539-C-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 10, 2022)
17-43044565-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43044592-T-G		not specified	Uncertain significance (Oct 16, 2019)
17-43044724-T-G		not specified	Uncertain significance (Nov 25, 2018)
17-43044750-G-A		not specified	Uncertain significance (Jun 21, 2018)
17-43044804-CT-C		Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary breast ovarian cancer syndrome	Benign (Sep 28, 2016)
17-43044804-CTT-C		Hereditary breast ovarian cancer syndrome	Uncertain significance (Jun 14, 2016)
17-43044804-CTTTTT-C		not specified	Uncertain significance (Oct 11, 2019)
17-43044804-CTTTTTTT-C		not specified	Uncertain significance (Mar 01, 2019)
17-43044804-C-CTTTTTTTTT		Breast-ovarian cancer, familial, susceptibility to, 1	Likely benign (May 28, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRCA1	protein_coding	protein_coding	ENST00000471181	23	81189

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.22e-29	0.244	125577	0	171	125748	0.000680

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.582	891	941	0.947	0.0000462	12573
Missense in Polyphen		150	179.14	0.83732		2772
Synonymous	0.511	329	341	0.965	0.0000173	3439
Loss of Function	2.16	55	75.2	0.731	0.00000358	1052

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000301	0.000293
Ashkenazi Jewish	0.00645	0.00647
East Asian	0.000381	0.000381
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000626	0.000624
Middle Eastern	0.000381	0.000381
South Asian	0.000425	0.000425
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8. Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:10724175, ECO:0000269|PubMed:11836499, ECO:0000269|PubMed:12887909, ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:14990569, ECO:0000269|PubMed:16326698, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:18056443, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19369211, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:20351172, ECO:0000269|PubMed:20364141}.
• Disease: DISEASE: Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:10323242, ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:12427738, ECO:0000269|PubMed:12442275, ECO:0000269|PubMed:12938098, ECO:0000269|PubMed:14722926, ECO:0000269|PubMed:15133502, ECO:0000269|PubMed:18285836, ECO:0000269|PubMed:21473589, ECO:0000269|PubMed:23867111, ECO:0000269|PubMed:28364669, ECO:0000269|PubMed:7545954, ECO:0000269|PubMed:7894491, ECO:0000269|PubMed:7894493, ECO:0000269|PubMed:7939630, ECO:0000269|PubMed:8554067, ECO:0000269|PubMed:8723683, ECO:0000269|PubMed:8776600, ECO:0000269|PubMed:9482581, ECO:0000269|PubMed:9609997, ECO:0000269|PubMed:9760198}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for 45% of inherited breast cancer. Moreover, BRCA1 carriers have a 4-fold increased risk of colon cancer, whereas male carriers face a 3-fold increased risk of prostate cancer. Cells lacking BRCA1 show defects in DNA repair by homologous recombination.; DISEASE: Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. {ECO:0000269|PubMed:12938098, ECO:0000269|PubMed:14722926, ECO:0000269|PubMed:28364669, ECO:0000269|PubMed:8968716}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Mutations in BRCA1 are thought to be responsible for more than 80% of inherited breast-ovarian cancer.; DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:10196379, ECO:0000269|PubMed:10486320, ECO:0000269|PubMed:14746861, ECO:0000269|PubMed:28364669}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Pancreatic cancer 4 (PNCA4) [MIM:614320]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue. {ECO:0000269|PubMed:18762988}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Fanconi anemia, complementation group S (FANCS) [MIM:617883]: A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269|PubMed:23269703, ECO:0000269|PubMed:25472942, ECO:0000269|PubMed:29133208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Fanconi anemia pathway - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Breast cancer - Homo sapiens (human);Homologous recombination - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Androgen receptor signaling pathway;miRNA Regulation of DNA Damage Response;Signaling Pathways in Glioblastoma;Hepatitis C and Hepatocellular Carcinoma;Pathways Affected in Adenoid Cystic Carcinoma;TP53 Regulates Transcription of DNA Repair Genes;PI3K-Akt Signaling Pathway;DNA Damage Response;HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;Gene expression (Transcription);Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;role of brca1 brca2 and atr in cancer susceptibility;brca1 dependent ub ligase activity;Transcriptional Regulation by E2F6;Generic Transcription Pathway;SUMOylation of DNA damage response and repair proteins;Homology Directed Repair;Post-translational protein modification;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;Reproduction;RNA Polymerase II Transcription;G2/M DNA damage checkpoint;G2/M Checkpoints;Cell Cycle Checkpoints;ATF-2 transcription factor network;AndrogenReceptor;Aurora A signaling;SUMOylation;Metalloprotease DUBs;Meiotic synapsis;Meiosis;cell cycle: g2/m checkpoint;atm signaling pathway;TGF_beta_Receptor;TP53 Regulates Transcription of DNA Repair Genes;Fanconi anemia pathway;Coregulation of Androgen receptor activity;FOXA1 transcription factor network;Deubiquitination;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Cell Cycle;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;DNA Double Strand Break Response;Validated nuclear estrogen receptor alpha network;Validated targets of C-MYC transcriptional repression;BARD1 signaling events;Processing of DNA double-strand break ends;ATM pathway;E2F transcription factor network;Presynaptic phase of homologous DNA pairing and strand exchange;Homologous DNA Pairing and Strand Exchange;Resolution of D-loop Structures through Holliday Junction Intermediates;Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-Loop Structures;HDR through Homologous Recombination (HRR) (Consensus)

Recessive Scores

• pRec: 0.948

Intolerance Scores

• loftool: 0.00207
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.6

Haploinsufficiency Scores

• pHI: 0.999
• hipred: Y
• hipred_score: 0.518
• ghis: 0.580

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	High	Medium	High

Mouse Genome Informatics

• Gene name: Brca1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; pigmentation phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; digestive/alimentary phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype

Gene ontology

• Biological process: double-strand break repair via homologous recombination;DNA double-strand break processing;DNA replication;postreplication repair;double-strand break repair;double-strand break repair via nonhomologous end joining;regulation of gene expression by genetic imprinting;regulation of transcription by RNA polymerase II;regulation of transcription by RNA polymerase III;fatty acid biosynthetic process;apoptotic process;cellular response to DNA damage stimulus;DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;chromosome segregation;centrosome cycle;intrinsic apoptotic signaling pathway in response to DNA damage;dosage compensation by inactivation of X chromosome;response to ionizing radiation;positive regulation of vascular endothelial growth factor production;positive regulation of gene expression;protein ubiquitination;protein deubiquitination;androgen receptor signaling pathway;positive regulation of protein ubiquitination;negative regulation of intracellular estrogen receptor signaling pathway;positive regulation of histone acetylation;negative regulation of histone acetylation;regulation of cell population proliferation;regulation of apoptotic process;chordate embryonic development;response to estrogen;regulation of DNA methylation;mitotic G2/M transition checkpoint;negative regulation of fatty acid biosynthetic process;positive regulation of DNA repair;positive regulation of angiogenesis;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;negative regulation of centriole replication;positive regulation of histone H3-K4 methylation;negative regulation of histone H3-K4 methylation;negative regulation of histone H3-K9 methylation;positive regulation of histone H3-K9 methylation;protein autoubiquitination;negative regulation of G0 to G1 transition;positive regulation of histone H4-K20 methylation;positive regulation of cell cycle arrest;cellular response to tumor necrosis factor;cellular response to indole-3-methanol;signal transduction involved in G2 DNA damage checkpoint;protein K6-linked ubiquitination;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;negative regulation of reactive oxygen species metabolic process;positive regulation of histone H3-K9 acetylation;positive regulation of histone H4-K16 acetylation
• Cellular component: ubiquitin ligase complex;lateral element;nucleus;nucleoplasm;chromosome;cytoplasm;plasma membrane;gamma-tubulin ring complex;BRCA1-BARD1 complex;protein-containing complex;BRCA1-A complex;ribonucleoprotein complex
• Molecular function: DNA binding;damaged DNA binding;transcription coactivator activity;RNA binding;ubiquitin-protein transferase activity;protein binding;zinc ion binding;tubulin binding;enzyme binding;ubiquitin protein ligase binding;identical protein binding;transcription regulatory region DNA binding;androgen receptor binding;RNA polymerase binding