BRCA1 and RBL1 |
breast cancer 1, early onset |
retinoblastoma-like 1 |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
- Loss of Function of TGFBR2 in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- TGFBR1 LBD Mutants in Cancer
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
- Generic Transcription Pathway
- Mitotic G1-G1/S phases
- TGFBR2 MSI Frameshift Mutants in Cancer
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- Loss of Function of SMAD2/3 in Cancer
- TGFBR2 Kinase Domain Mutants in Cancer
- G1 Phase
- Loss of Function of SMAD4 in Cancer
- TGFBR1 KD Mutants in Cancer
- G0 and Early G1
- Loss of Function of TGFBR1 in Cancer
- Cell Cycle, Mitotic
- Cyclin D associated events in G1
- Signaling by TGF-beta Receptor Complex in Cancer
- Signaling by TGF-beta Receptor Complex
- SMAD4 MH2 Domain Mutants in Cancer
|
|
|
|
|
BRCA1 and RANBP9 |
breast cancer 1, early onset |
RAN binding protein 9 |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
- Axon guidance
- L1CAM interactions
|
|
|
|
|
BRCA1 and WNT2B |
breast cancer 1, early onset |
wingless-type MMTV integration site family, member 2B |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
- Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
- Signaling by GPCR
- WNT ligand secretion is abrogated by the PORCN inhibitor LGK974
- Signaling by Wnt
- Signaling by WNT in cancer
- Metabolic disorders of biological oxidation enzymes
- GPCR ligand binding
- WNT ligand biogenesis and trafficking
- Class B/2 (Secretin family receptors)
|
|
|
|
|
BRCA1 and ELK4 |
breast cancer 1, early onset |
ELK4, ETS-domain protein (SRF accessory protein 1) |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
|
|
|
|
|
BRCA1 and HDAC1 |
breast cancer 1, early onset |
histone deacetylase 1 |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
- Loss of Function of TGFBR2 in Cancer
- Signaling by NOTCH1 HD Domain Mutants in Cancer
- RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
- misspliced GSK3beta mutants stabilize beta-catenin
- T41 mutants of beta-catenin aren't phosphorylated
- SMAD2/3 MH2 Domain Mutants in Cancer
- TCF7L2 mutants don't bind CTBP
- truncated APC mutants destabilize the destruction complex
- Signaling by Wnt
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
- Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Degradation of beta-catenin by the destruction complex
- NoRC negatively regulates rRNA expression
- Generic Transcription Pathway
- S33 mutants of beta-catenin aren't phosphorylated
- AXIN mutants destabilize the destruction complex, activating WNT signaling
- RNF mutants show enhanced WNT signaling and proliferation
- Signaling by NOTCH1 in Cancer
- Mitotic G1-G1/S phases
- truncations of AMER1 destabilize the destruction complex
- TGFBR2 MSI Frameshift Mutants in Cancer
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- Chromatin organization
- misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
- Signaling by NOTCH
- formation of the beta-catenin:TCF transactivating complex
- phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
- Loss of Function of SMAD4 in Cancer
- AXIN missense mutants destabilize the destruction complex
- S45 mutants of beta-catenin aren't phosphorylated
- TGFBR1 KD Mutants in Cancer
- Factors involved in megakaryocyte development and platelet production
- Chromatin modifying enzymes
- deletions in the AMER1 gene destabilize the destruction complex
- AMER1 mutants destabilize the destruction complex
- Signaling by NOTCH1 PEST Domain Mutants in Cancer
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
- RNA Polymerase I Transcription Initiation
- APC truncation mutants have impaired AXIN binding
- RNA Polymerase I Promoter Clearance
- TGFBR1 LBD Mutants in Cancer
- deactivation of the beta-catenin transactivating complex
- APC truncation mutants are not K63 polyubiquitinated
- S37 mutants of beta-catenin aren't phosphorylated
- Signaling by NOTCH1
- XAV939 inhibits tankyrase, stabilizing AXIN
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- FBXW7 Mutants and NOTCH1 in Cancer
- Signalling by NGF
- HDACs deacetylate histones
- p75NTR negatively regulates cell cycle via SC1
- Loss of Function of SMAD2/3 in Cancer
- RNA Polymerase I Transcription
- TGFBR2 Kinase Domain Mutants in Cancer
- Epigenetic regulation of gene expression
- p75 NTR receptor-mediated signalling
- G0 and Early G1
- Negative epigenetic regulation of rRNA expression
- repression of WNT target genes
- Loss of Function of TGFBR1 in Cancer
- Cell Cycle, Mitotic
- NOTCH1 Intracellular Domain Regulates Transcription
- Signaling by TGF-beta Receptor Complex in Cancer
- Signaling by TGF-beta Receptor Complex
- TCF dependent signaling in response to WNT
- deletions in the AXIN genes in hepatocellular carcinoma result in elevated WNT signaling
- Signaling by WNT in cancer
- SMAD4 MH2 Domain Mutants in Cancer
|
|
|
|
|
BRCA1 and EP300 |
breast cancer 1, early onset |
E1A binding protein p300 |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
- Signaling by NOTCH1 HD Domain Mutants in Cancer
- Metabolism of lipids and lipoproteins
- Signaling by Wnt
- NOTCH2 intracellular domain regulates transcription
- Regulation of gene expression by Hypoxia-inducible Factor
- Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
- Signaling by NOTCH2
- Pre-NOTCH Transcription and Translation
- RNF mutants show enhanced WNT signaling and proliferation
- Signaling by NOTCH1 in Cancer
- Chromatin organization
- misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling
- Signaling by NOTCH
- formation of the beta-catenin:TCF transactivating complex
- Factors involved in megakaryocyte development and platelet production
- Chromatin modifying enzymes
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- Signaling by NOTCH1 PEST Domain Mutants in Cancer
- Mitotic G2-G2/M phases
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- PPARA activates gene expression
- Cellular response to hypoxia
- Regulation of Hypoxia-inducible Factor (HIF) by oxygen
- Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
- Attenuation phase
- G2/M Transition
- HATs acetylate histones
- RORA activates circadian gene expression
- HSF1-dependent transactivation
- TRAF3-dependent IRF activation pathway
- Signaling by NOTCH1
- Transcriptional regulation of white adipocyte differentiation
- XAV939 inhibits tankyrase, stabilizing AXIN
- Pre-NOTCH Expression and Processing
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- FBXW7 Mutants and NOTCH1 in Cancer
- Innate Immune System
- Fatty acid, triacylglycerol, and ketone body metabolism
- Cytosolic sensors of pathogen-associated DNA
- Cellular response to heat stress
- REV-ERBA represses gene expression
- Cell Cycle, Mitotic
- RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
- NOTCH1 Intracellular Domain Regulates Transcription
- TCF dependent signaling in response to WNT
- TRAF6 mediated IRF7 activation
- Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
- Signaling by WNT in cancer
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Polo-like kinase mediated events
|
|
|
|
|
BRCA1 and SMAD3 |
breast cancer 1, early onset |
SMAD family member 3 |
- ATM mediated phosphorylation of repair proteins
- Meiotic recombination
- Fanconi Anemia pathway
- ATM mediated response to DNA double-strand break
- Homologous Recombination Repair
- Meiotic synapsis
- Homologous recombination repair of replication-independent double-strand breaks
- Recruitment of repair and signaling proteins to double-strand breaks
- Double-Strand Break Repair
|
- Loss of Function of TGFBR2 in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- TGFBR1 LBD Mutants in Cancer
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
- Generic Transcription Pathway
- Signaling by NODAL
- TGFBR2 MSI Frameshift Mutants in Cancer
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- Loss of Function of SMAD2/3 in Cancer
- Signaling by Activin
- TGFBR2 Kinase Domain Mutants in Cancer
- Loss of Function of SMAD4 in Cancer
- TGFBR1 KD Mutants in Cancer
- Loss of Function of TGFBR1 in Cancer
- Signaling by TGF-beta Receptor Complex in Cancer
- Signaling by TGF-beta Receptor Complex
- SMAD4 MH2 Domain Mutants in Cancer
|
|
|
|
|
BRAF and HRAS |
B-Raf proto-oncogene, serine/threonine kinase |
Harvey rat sarcoma viral oncogene homolog |
- Signalling to ERKs
- Prolonged ERK activation events
- Signalling by NGF
- Signaling by FGFR in disease
- NGF signalling via TRKA from the plasma membrane
- Spry regulation of FGF signaling
- CREB phosphorylation through the activation of Ras
- Signaling by FGFR
- ARMS-mediated activation
- Activation of NMDA receptor upon glutamate binding and postsynaptic events
- Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
- Signalling to p38 via RIT and RIN
- Frs2-mediated activation
- Transmission across Chemical Synapses
- Post NMDA receptor activation events
- Negative regulation of FGFR signaling
|
- Signaling by the B Cell Receptor (BCR)
- Signaling by GPCR
- Signaling by FGFR in disease
- SHC-mediated cascade
- MEK activation
- FCERI mediated MAPK activation
- CREB phosphorylation through the activation of Ras
- Signaling by EGFRvIII in Cancer
- SHC1 events in ERBB2 signaling
- Signaling by SCF-KIT
- Downstream signaling events of B Cell Receptor (BCR)
- DAP12 signaling
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- Interleukin receptor SHC signaling
- Gastrin-CREB signalling pathway via PKC and MAPK
- p38MAPK events
- EPH-Ephrin signaling
- SOS-mediated signalling
- Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
- SHC-mediated signalling
- Signaling by PDGF
- DAP12 interactions
- SHC-related events triggered by IGF1R
- GRB2 events in EGFR signaling
- Signaling by ERBB4
- Signaling by ERBB2
- Signaling by EGFR
- Signaling by Interleukins
- SHC1 events in ERBB4 signaling
- Signaling by VEGF
- Signalling to RAS
- Downstream signal transduction
- Signaling by FGFR mutants
- Signaling by EGFR in Cancer
- Fc epsilon receptor (FCERI) signaling
- Interleukin-2 signaling
- Interleukin-3, 5 and GM-CSF signaling
- Frs2-mediated activation
- Transmission across Chemical Synapses
- Ras activation uopn Ca2+ infux through NMDA receptor
- Adaptive Immune System
- Signaling by Leptin
- Signalling to ERKs
- Prolonged ERK activation events
- Axon guidance
- IRS-mediated signalling
- IGF1R signaling cascade
- VEGFA-VEGFR2 Pathway
- EPHB-mediated forward signaling
- IRS-related events triggered by IGF1R
- EGFR Transactivation by Gastrin
- VEGFR2 mediated cell proliferation
- GRB2 events in ERBB2 signaling
- Activation of NMDA receptor upon glutamate binding and postsynaptic events
- RAF phosphorylates MEK
- Downstream signaling of activated FGFR
- NCAM signaling for neurite out-growth
- RAF/MAP kinase cascade
- Signalling to p38 via RIT and RIN
- Post NMDA receptor activation events
- Innate Immune System
- Signaling by Insulin receptor
- Signalling by NGF
- Insulin receptor signalling cascade
- SOS-mediated signalling
- SHC-mediated signalling
- IRS-related events
- Cytokine Signaling in Immune system
- Signaling by Ligand-Responsive EGFR Variants in Cancer
- SHC-related events
- NGF signalling via TRKA from the plasma membrane
- Tie2 Signaling
- Signaling by Overexpressed Wild-Type EGFR in Cancer
- Cell surface interactions at the vascular wall
- Signaling by FGFR
- ARMS-mediated activation
- SHC1 events in EGFR signaling
- RAF activation
- IRS-mediated signalling
- FRS2-mediated cascade
- Activation of RAS in B cells
- Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
- Interleukin receptor SHC signaling
- Constitutive Signaling by EGFRvIII
|
- Sorafenib
- N-{3-[(5-chloro-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]-2,4-difluorophenyl}propane-1-sulfonamide
- N-{2,4-difluoro-3-[(5-pyridin-3-yl-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide
- (1E)-5-(1-piperidin-4-yl-3-pyridin-4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime
- Vemurafenib
- Regorafenib
- Dabrafenib
|
- Hexane-1,6-Diol
- Trifluoroethanol
- Guanosine-5\'-Triphosphate
- Guanosine-5\'-Diphosphate
- N,N\'-DIMETHYL-N-(ACETYL)-N\'-(7-NITROBENZ-2-OXA-1,3-DIAZOL-4-YL)ETHYLENEDIAMINE
|
|
|
BRCA2 and RAD51 |
breast cancer 2, early onset |
RAD51 recombinase |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
- Assembly of the RAD51-ssDNA nucleoprotein complex
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
BRCA2 and FANCD2 |
breast cancer 2, early onset |
Fanconi anemia, complementation group D2 |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
- Fanconi Anemia pathway
- Regulation of the Fanconi anemia pathway
|
|
|
|
|
BRCA2 and FANCE |
breast cancer 2, early onset |
Fanconi anemia, complementation group E |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
|
BRCA2 and DMC1 |
breast cancer 2, early onset |
DNA meiotic recombinase 1 |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
|
BRCA2 and FLNA |
breast cancer 2, early onset |
filamin A, alpha |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
- Cell junction organization
- GP1b-IX-V activation signalling
- Response to elevated platelet cytosolic Ca2+
- Platelet degranulation
- Platelet activation, signaling and aggregation
- Cell-extracellular matrix interactions
|
|
|
|
|
BRCA2 and FANCG |
breast cancer 2, early onset |
Fanconi anemia, complementation group G |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
|
BRCA2 and MAGED1 |
breast cancer 2, early onset |
melanoma antigen family D, 1 |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
- Signalling by NGF
- Cell death signalling via NRAGE, NRIF and NADE
- NRAGE signals death through JNK
- Programmed Cell Death
- p75 NTR receptor-mediated signalling
- Role of DCC in regulating apoptosis
- Extrinsic Pathway
|
|
|
|
|
BRCA2 and CFAP52 |
breast cancer 2, early onset |
cilia and flagella associated protein 52 |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
|
BRCA2 and SHFM1 |
breast cancer 2, early onset |
split hand/foot malformation (ectrodactyly) type 1 |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
|
BRCA2 and USP11 |
breast cancer 2, early onset |
ubiquitin specific peptidase 11 |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
- Protein folding
- Chaperonin-mediated protein folding
- Association of TriC/CCT with target proteins during biosynthesis
|
|
|
|
|
BRCA2 and BUB1B |
breast cancer 2, early onset |
BUB1 mitotic checkpoint serine/threonine kinase B |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
- Mitotic Prometaphase
- Separation of Sister Chromatids
- Inactivation of APC/C via direct inhibition of the APC/C complex
- APC/C:Cdc20 mediated degradation of mitotic proteins
- Mitotic Anaphase
- Regulation of APC/C activators between G1/S and early anaphase
- Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
- M Phase
- APC/C-mediated degradation of cell cycle proteins
- Cell Cycle, Mitotic
- Inactivation of APC/C via direct inhibition of the APC/C complex
- Mitotic Spindle Checkpoint
- Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components
- Resolution of Sister Chromatid Cohesion
- Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
- Regulation of mitotic cell cycle
- APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
- Cell Cycle Checkpoints
- Mitotic Metaphase and Anaphase
|
|
|
|
|
BRCA2 and BCCIP |
breast cancer 2, early onset |
BRCA2 and CDKN1A interacting protein |
- Homologous DNA pairing and strand exchange
- Meiotic recombination
- Fanconi Anemia pathway
- Homologous Recombination Repair
- Homologous recombination repair of replication-independent double-strand breaks
- Double-Strand Break Repair
- Presynaptic phase of homologous DNA pairing and strand exchange
|
|
|
|
|
|