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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q21.31
Chromosome location (bp)
43044295 - 43170245
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5,6,7. It is unclear whether it also mediates the formation of other types of polyubiquitin chains 8. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability 9,10,11. Regulates centrosomal microtubule nucleation 12. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle 13,14,15,16. Required for FANCD2 targeting to sites of DNA damage 17. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation 18. 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 19. 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 20. Acts as a transcriptional activator 21....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, DNA damage, DNA recombination, DNA repair, Fatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Transcription, Transcription regulation, Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
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A0A024R1Z8 [Target identity:100%; Query identity:100%] Breast cancer type 1 susceptibility protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000724[double-strand break repair via homologous recombination] GO:0000800[lateral element] GO:0000931[gamma-tubulin ring complex] GO:0000976[transcription cis-regulatory region binding] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006633[fatty acid biosynthetic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008270[zinc ion binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0010212[response to ionizing radiation] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010628[positive regulation of gene expression] GO:0015631[tubulin binding] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0030308[negative regulation of cell growth] GO:0031398[positive regulation of protein ubiquitination] GO:0031436[BRCA1-BARD1 complex] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035066[positive regulation of histone acetylation] GO:0035067[negative regulation of histone acetylation] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043627[response to estrogen] GO:0044818[mitotic G2/M transition checkpoint] GO:0045717[negative regulation of fatty acid biosynthetic process] GO:0045739[positive regulation of DNA repair] GO:0045766[positive regulation of angiogenesis] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046600[negative regulation of centriole replication] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051179[localization] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070063[RNA polymerase binding] GO:0070512[positive regulation of histone H4-K20 methylation] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071356[cellular response to tumor necrosis factor] GO:0071479[cellular response to ionizing radiation] GO:0071681[cellular response to indole-3-methanol] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990391[DNA repair complex] GO:1990904[ribonucleoprotein complex] GO:2000001[regulation of DNA damage checkpoint] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000620[positive regulation of histone H4-K16 acetylation]
Q5YLB2 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000724[double-strand break repair via homologous recombination] GO:0000793[condensed chromosome] GO:0000794[condensed nuclear chromosome] GO:0000800[lateral element] GO:0000931[gamma-tubulin ring complex] GO:0000976[transcription cis-regulatory region binding] GO:0001673[male germ cell nucleus] GO:0001741[XY body] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006349[regulation of gene expression by genomic imprinting] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006633[fatty acid biosynthetic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0007098[centrosome cycle] GO:0008270[zinc ion binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0010212[response to ionizing radiation] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010628[positive regulation of gene expression] GO:0015631[tubulin binding] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0030308[negative regulation of cell growth] GO:0031398[positive regulation of protein ubiquitination] GO:0031436[BRCA1-BARD1 complex] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035066[positive regulation of histone acetylation] GO:0035067[negative regulation of histone acetylation] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043627[response to estrogen] GO:0044030[regulation of DNA methylation] GO:0044818[mitotic G2/M transition checkpoint] GO:0045717[negative regulation of fatty acid biosynthetic process] GO:0045739[positive regulation of DNA repair] GO:0045766[positive regulation of angiogenesis] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046600[negative regulation of centriole replication] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051179[localization] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051572[negative regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0051574[positive regulation of histone H3-K9 methylation] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070063[RNA polymerase binding] GO:0070512[positive regulation of histone H4-K20 methylation] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071356[cellular response to tumor necrosis factor] GO:0071479[cellular response to ionizing radiation] GO:0071681[cellular response to indole-3-methanol] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990391[DNA repair complex] GO:1990904[ribonucleoprotein complex] GO:2000001[regulation of DNA damage checkpoint] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000620[positive regulation of histone H4-K16 acetylation]
H0Y850 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000724[double-strand break repair via homologous recombination] GO:0000800[lateral element] GO:0000931[gamma-tubulin ring complex] GO:0000976[transcription cis-regulatory region binding] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006633[fatty acid biosynthetic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008270[zinc ion binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0010212[response to ionizing radiation] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010628[positive regulation of gene expression] GO:0015631[tubulin binding] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0030308[negative regulation of cell growth] GO:0031398[positive regulation of protein ubiquitination] GO:0031436[BRCA1-BARD1 complex] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035066[positive regulation of histone acetylation] GO:0035067[negative regulation of histone acetylation] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043627[response to estrogen] GO:0044818[mitotic G2/M transition checkpoint] GO:0045717[negative regulation of fatty acid biosynthetic process] GO:0045739[positive regulation of DNA repair] GO:0045766[positive regulation of angiogenesis] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046600[negative regulation of centriole replication] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051179[localization] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070063[RNA polymerase binding] GO:0070512[positive regulation of histone H4-K20 methylation] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071356[cellular response to tumor necrosis factor] GO:0071479[cellular response to ionizing radiation] GO:0071681[cellular response to indole-3-methanol] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990391[DNA repair complex] GO:1990904[ribonucleoprotein complex] GO:2000001[regulation of DNA damage checkpoint] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000620[positive regulation of histone H4-K16 acetylation]
E7EWN5 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
Show all
Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000724[double-strand break repair via homologous recombination] GO:0000800[lateral element] GO:0000931[gamma-tubulin ring complex] GO:0000976[transcription cis-regulatory region binding] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006633[fatty acid biosynthetic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008270[zinc ion binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0010212[response to ionizing radiation] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010628[positive regulation of gene expression] GO:0015631[tubulin binding] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0030308[negative regulation of cell growth] GO:0031398[positive regulation of protein ubiquitination] GO:0031436[BRCA1-BARD1 complex] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035066[positive regulation of histone acetylation] GO:0035067[negative regulation of histone acetylation] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043627[response to estrogen] GO:0044818[mitotic G2/M transition checkpoint] GO:0045717[negative regulation of fatty acid biosynthetic process] GO:0045739[positive regulation of DNA repair] GO:0045766[positive regulation of angiogenesis] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046600[negative regulation of centriole replication] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051179[localization] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070063[RNA polymerase binding] GO:0070512[positive regulation of histone H4-K20 methylation] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071356[cellular response to tumor necrosis factor] GO:0071479[cellular response to ionizing radiation] GO:0071681[cellular response to indole-3-methanol] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990391[DNA repair complex] GO:1990904[ribonucleoprotein complex] GO:2000001[regulation of DNA damage checkpoint] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000620[positive regulation of histone H4-K16 acetylation]
H0Y8D8 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
E7EQW4 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
E9PH68 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
H0Y8B8 [Direct mapping] Breast cancer type 1 susceptibility protein
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Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
E7ENB7 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
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A0A024R1V0 [Target identity:100%; Query identity:100%] Breast cancer type 1 susceptibility protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000724[double-strand break repair via homologous recombination] GO:0000800[lateral element] GO:0000931[gamma-tubulin ring complex] GO:0000976[transcription cis-regulatory region binding] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006633[fatty acid biosynthetic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008270[zinc ion binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0010212[response to ionizing radiation] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010628[positive regulation of gene expression] GO:0015631[tubulin binding] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0030308[negative regulation of cell growth] GO:0031398[positive regulation of protein ubiquitination] GO:0031436[BRCA1-BARD1 complex] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035066[positive regulation of histone acetylation] GO:0035067[negative regulation of histone acetylation] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043627[response to estrogen] GO:0044818[mitotic G2/M transition checkpoint] GO:0045717[negative regulation of fatty acid biosynthetic process] GO:0045739[positive regulation of DNA repair] GO:0045766[positive regulation of angiogenesis] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046600[negative regulation of centriole replication] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051179[localization] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070063[RNA polymerase binding] GO:0070512[positive regulation of histone H4-K20 methylation] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071356[cellular response to tumor necrosis factor] GO:0071479[cellular response to ionizing radiation] GO:0071681[cellular response to indole-3-methanol] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990391[DNA repair complex] GO:1990904[ribonucleoprotein complex] GO:2000001[regulation of DNA damage checkpoint] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000620[positive regulation of histone H4-K16 acetylation]
P38398 [Direct mapping] Breast cancer type 1 susceptibility protein
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Enzymes ENZYME proteins Transferases Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000151[ubiquitin ligase complex] GO:0000152[nuclear ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000724[double-strand break repair via homologous recombination] GO:0000800[lateral element] GO:0000931[gamma-tubulin ring complex] GO:0000976[transcription cis-regulatory region binding] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0003723[RNA binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005886[plasma membrane] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006301[postreplication repair] GO:0006302[double-strand break repair] GO:0006310[DNA recombination] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006633[fatty acid biosynthetic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008270[zinc ion binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009048[dosage compensation by inactivation of X chromosome] GO:0010212[response to ionizing radiation] GO:0010575[positive regulation of vascular endothelial growth factor production] GO:0010628[positive regulation of gene expression] GO:0015631[tubulin binding] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0030308[negative regulation of cell growth] GO:0031398[positive regulation of protein ubiquitination] GO:0031436[BRCA1-BARD1 complex] GO:0031625[ubiquitin protein ligase binding] GO:0032991[protein-containing complex] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035066[positive regulation of histone acetylation] GO:0035067[negative regulation of histone acetylation] GO:0035518[histone H2A monoubiquitination] GO:0035825[homologous recombination] GO:0042802[identical protein binding] GO:0043009[chordate embryonic development] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043627[response to estrogen] GO:0044818[mitotic G2/M transition checkpoint] GO:0045717[negative regulation of fatty acid biosynthetic process] GO:0045739[positive regulation of DNA repair] GO:0045766[positive regulation of angiogenesis] GO:0045786[negative regulation of cell cycle] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046600[negative regulation of centriole replication] GO:0046872[metal ion binding] GO:0050896[response to stimulus] GO:0051179[localization] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051573[negative regulation of histone H3-K9 methylation] GO:0051726[regulation of cell cycle] GO:0051865[protein autoubiquitination] GO:0070063[RNA polymerase binding] GO:0070512[positive regulation of histone H4-K20 methylation] GO:0070531[BRCA1-A complex] GO:0070532[BRCA1-B complex] GO:0070533[BRCA1-C complex] GO:0070537[histone H2A K63-linked deubiquitination] GO:0071356[cellular response to tumor necrosis factor] GO:0071479[cellular response to ionizing radiation] GO:0071681[cellular response to indole-3-methanol] GO:0085020[protein K6-linked ubiquitination] GO:0110025[DNA strand resection involved in replication fork processing] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990391[DNA repair complex] GO:1990904[ribonucleoprotein complex] GO:2000001[regulation of DNA damage checkpoint] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000617[positive regulation of histone H3-K9 acetylation] GO:2000620[positive regulation of histone H4-K16 acetylation]
B7ZA85 [Direct mapping] Breast cancer type 1 susceptibility protein; cDNA, FLJ79099, highly similar to Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant BRCA1-delta 11b, mRNA
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Q3B891 [Direct mapping] BRCA1 protein; Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
C9IZW4 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
C6YB45 [Direct mapping] BRCA1 isoform E1aA-Delta 2-17; Breast cancer type 1 susceptibility protein
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Phobius predicted membrane proteins TMHMM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
K7EPC7 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
K7EJW3 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
G1UI37 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A0U1RRA9 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A2R8Y7V5 [Direct mapping] Breast cancer type 1 susceptibility protein
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Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A2R8Y587 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A494C182 [Direct mapping] Breast cancer type 1 susceptibility protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of soft tissues and bone Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
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