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PTCH1
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patched 1 |
- Class B/2 (Secretin family receptors)
- Hedgehog 'off' state
- Ligand-receptor interactions
- Ligand-receptor interactions
- Hedgehog 'on' state
- Hedgehog 'on' state
- Activation of SMO
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- Holoprosencephaly (HPE)
- Basal cell carcinoma
- Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Gorlin syndrome
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PTEN
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phosphatase and tensin homolog |
- Synthesis of PIPs at the plasma membrane
- Synthesis of IP3 and IP4 in the cytosol
- Negative regulation of the PI3K/AKT network
- Downstream TCR signaling
- TP53 Regulates Metabolic Genes
- PTEN Loss of Function in Cancer
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Regulation of PTEN mRNA translation
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Transcriptional Regulation by MECP2
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- Vulvar cancer
- Breast cancer
- Malignant melanoma
- Prostate cancer
- Hepatocellular carcinoma
- Small cell lung cancer
- Endometrial Cancer
- Glioma
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RAD17
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RAD17 checkpoint clamp loader component |
- Activation of ATR in response to replication stress
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Impaired BRCA2 binding to RAD51
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RAD50
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RAD50 double strand break repair protein |
- DNA Damage/Telomere Stress Induced Senescence
- HDR through Single Strand Annealing (SSA)
- HDR through MMEJ (alt-NHEJ)
- HDR through Homologous Recombination (HRR)
- Sensing of DNA Double Strand Breaks
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Meiotic recombination
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
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- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
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RAD51
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RAD51 recombinase |
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Homologous DNA Pairing and Strand Exchange
- Presynaptic phase of homologous DNA pairing and strand exchange
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Meiotic recombination
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
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- Phosphoaminophosphonic Acid-Adenylate Ester
- Amuvatinib
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RAD9A
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RAD9 checkpoint clamp component A |
- Activation of ATR in response to replication stress
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Impaired BRCA2 binding to RAD51
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RANBP9
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RAN binding protein 9 |
- L1CAM interactions
- RAF/MAP kinase cascade
- MET activates RAS signaling
- Regulation of pyruvate metabolism
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RASSF1
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Ras association domain family member 1 |
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- Nasopharyngeal cancer
- Non-small cell lung cancer
- Bladder cancer
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RBBP8
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RB binding protein 8, endonuclease |
- HDR through Single Strand Annealing (SSA)
- HDR through MMEJ (alt-NHEJ)
- HDR through Homologous Recombination (HRR)
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
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RHEB
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Ras homolog, mTORC1 binding |
- Macroautophagy
- MTOR signalling
- mTORC1-mediated signalling
- Energy dependent regulation of mTOR by LKB1-AMPK
- TP53 Regulates Metabolic Genes
- Regulation of PTEN gene transcription
- Amino acids regulate mTORC1
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- Guanosine-5'-Triphosphate
- Guanosine-5'-Diphosphate
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RNF20
|
ring finger protein 20 |
- E3 ubiquitin ligases ubiquitinate target proteins
- RHOBTB1 GTPase cycle
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RNF40
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ring finger protein 40 |
- E3 ubiquitin ligases ubiquitinate target proteins
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RPA1
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replication protein A1 |
- Translesion synthesis by REV1
- Recognition of DNA damage by PCNA-containing replication complex
- Translesion Synthesis by POLH
- Removal of the Flap Intermediate from the C-strand
- Activation of ATR in response to replication stress
- SUMOylation of DNA damage response and repair proteins
- Regulation of HSF1-mediated heat shock response
- HSF1 activation
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- PCNA-Dependent Long Patch Base Excision Repair
- Translesion synthesis by POLK
- Translesion synthesis by POLI
- Termination of translesion DNA synthesis
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Formation of Incision Complex in GG-NER
- Gap-filling DNA repair synthesis and ligation in GG-NER
- Dual Incision in GG-NER
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Fanconi Anemia Pathway
- Regulation of TP53 Activity through Phosphorylation
- Activation of the pre-replicative complex
- Removal of the Flap Intermediate
- G2/M DNA damage checkpoint
- Meiotic recombination
- Impaired BRCA2 binding to RAD51
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RPA2
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replication protein A2 |
- Translesion synthesis by REV1
- Recognition of DNA damage by PCNA-containing replication complex
- Translesion Synthesis by POLH
- Removal of the Flap Intermediate from the C-strand
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HSF1 activation
- Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
- PCNA-Dependent Long Patch Base Excision Repair
- Translesion synthesis by POLK
- Translesion synthesis by POLI
- Termination of translesion DNA synthesis
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Formation of Incision Complex in GG-NER
- Gap-filling DNA repair synthesis and ligation in GG-NER
- Dual Incision in GG-NER
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Fanconi Anemia Pathway
- Regulation of TP53 Activity through Phosphorylation
- Activation of the pre-replicative complex
- Removal of the Flap Intermediate
- G2/M DNA damage checkpoint
- Meiotic recombination
- Impaired BRCA2 binding to RAD51
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RPS6KA1
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ribosomal protein S6 kinase A1 |
- ERK/MAPK targets
- CREB phosphorylation
- Senescence-Associated Secretory Phenotype (SASP)
- Senescence-Associated Secretory Phenotype (SASP)
- Recycling pathway of L1
- CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
- RSK activation
- RSK activation
- Gastrin-CREB signalling pathway via PKC and MAPK
- Transcriptional and post-translational regulation of MITF-M expression and activity
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- Purvalanol A
- Fostamatinib
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RPS6KA3
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ribosomal protein S6 kinase A3 |
- ERK/MAPK targets
- CREB phosphorylation
- Senescence-Associated Secretory Phenotype (SASP)
- Senescence-Associated Secretory Phenotype (SASP)
- Recycling pathway of L1
- CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling
- RSK activation
- RSK activation
- Gastrin-CREB signalling pathway via PKC and MAPK
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- Acetylsalicylic acid
- Fostamatinib
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- Non-syndromic X-linked mental retardation
- Coffin-Lowry syndrome (CLS)
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SIN3A
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SIN3 transcription regulator family member A |
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- NoRC negatively regulates rRNA expression
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- Loss of MECP2 binding ability to 5mC-DNA
- Regulation of MECP2 expression and activity
- MECP2 regulates neuronal receptors and channels
- MECP2 regulates transcription of neuronal ligands
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- STAT3 nuclear events downstream of ALK signaling
- Cytoprotection by HMOX1
- Regulation of MITF-M-dependent genes involved in apoptosis
- Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
- Factors involved in megakaryocyte development and platelet production
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SMARCA4
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SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
- Interleukin-7 signaling
- Formation of the beta-catenin:TCF transactivating complex
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- Negative Regulation of CDH1 Gene Transcription
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of MITF-M-dependent genes involved in pigmentation
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Formation of the canonical BAF (cBAF) complex
- Formation of the polybromo-BAF (pBAF) complex
- Formation of the embryonic stem cell BAF (esBAF) complex
- Formation of the non-canonical BAF (ncBAF) complex
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
- Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
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SMC1A
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structural maintenance of chromosomes 1A |
- Meiotic synapsis
- Separation of Sister Chromatids
- Establishment of Sister Chromatid Cohesion
- Cohesin Loading onto Chromatin
- Resolution of Sister Chromatid Cohesion
- SUMOylation of DNA damage response and repair proteins
- Estrogen-dependent gene expression
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- Cornelia de Lange syndrome (CdLS)
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SPOP
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speckle type BTB/POZ protein |
- Hedgehog 'on' state
- SPOP-mediated proteasomal degradation of PD-L1(CD274)
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