Novel |
BLM |
BLM RecQ like helicase |
- Processive synthesis on the C-strand of the telomere
- SUMOylation of DNA damage response and repair proteins
- 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
- 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
|
|
- Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
- 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
|
Novel |
BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- 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
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Neddylation
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
- 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
- KEAP1-NFE2L2 pathway
- Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
|
|
- Ovarian cancer
- Breast cancer
|
Novel |
CREBBP |
CREB binding lysine acetyltransferase |
- Regulation of gene expression by Hypoxia-inducible Factor
- BMAL1:CLOCK,NPAS2 activates circadian expression
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Cytoprotection by HMOX1
- Heme signaling
- Nuclear events mediated by NFE2L2
- NPAS4 regulates expression of target genes
- Formation of paraxial mesoderm
- NFE2L2 regulating inflammation associated genes
- NFE2L2 regulating anti-oxidant/detoxification enzymes
- NFE2L2 regulates pentose phosphate pathway genes
- NFE2L2 regulating tumorigenic genes
- NFE2L2 regulating MDR associated enzymes
- NFE2L2 regulating ER-stress associated genes
- Regulation of NFE2L2 gene expression
- Regulation of NFE2L2 gene expression
- Zygotic genome activation (ZGA)
- Evasion by RSV of host interferon responses
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of PD-L1(CD274) transcription
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes
- Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters
- The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
|
- Colforsin
- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
|
- Rubinstein-Taybi syndrome
|
Novel |
FANCD2 |
FA complementation group D2 |
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
|
|
|
Novel |
HDAC3 |
histone deacetylase 3 |
- p75NTR negatively regulates cell cycle via SC1
- PPARA activates gene expression
- PPARA activates gene expression
- NOTCH1 Intracellular Domain Regulates Transcription
- Transcriptional activation of mitochondrial biogenesis
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- HDACs deacetylate histones
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Association of TriC/CCT with target proteins during biosynthesis
- Regulation of lipid metabolism by PPARalpha
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX2 regulates osteoblast differentiation
- Regulation of PTEN gene transcription
- Loss of MECP2 binding ability to the NCoR/SMRT complex
- Regulation of MECP2 expression and activity
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- HCMV Early Events
- STAT3 nuclear events downstream of ALK signaling
- Cytoprotection by HMOX1
- Heme signaling
- Heme signaling
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
|
- Valproic acid
- Decitabine
- Vorinostat
- Vorinostat
- Belinostat
- Pracinostat
- Romidepsin
- Panobinostat
- Phenylbutyric acid
- Mocetinostat
- Entinostat
- Abexinostat
- Givinostat
- Pyroxamide
|
|
Novel |
HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
- SUMOylation of RNA binding proteins
- mRNA Splicing - Major Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- RHOBTB2 GTPase cycle
- RHOBTB1 GTPase cycle
|
|
|
Novel |
HPN |
hepsin |
- MET Receptor Activation
- Signaling by MST1
|
- Bentiromide
- Benzylsulfonic acid
- CRA_1144
- 6-Chloro-2-(2-Hydroxy-Biphenyl-3-Yl)-1h-Indole-5-Carboxamidine
|
|
Novel |
HSD17B14 |
hydroxysteroid 17-beta dehydrogenase 14 |
|
|
|
Novel |
MRPS23 |
mitochondrial ribosomal protein S23 |
- Mitochondrial translation initiation
- Mitochondrial translation elongation
- Mitochondrial translation elongation
- Mitochondrial translation termination
- Mitochondrial ribosome-associated quality control
|
|
|
Novel |
PATZ1 |
POZ/BTB and AT hook containing zinc finger 1 |
|
|
|
Novel |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
- Platelet degranulation
- Cell surface interactions at the vascular wall
- PECAM1 interactions
- Integrin cell surface interactions
- Platelet sensitization by LDL
- Neutrophil degranulation
- High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
|
|
|
Novel |
RPA1 |
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
|
|
|
Novel |
SIRT1 |
sirtuin 1 |
- Regulation of HSF1-mediated heat shock response
- SIRT1 negatively regulates rRNA expression
- SIRT1 negatively regulates rRNA expression
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
- Heme signaling
- Negative Regulation of CDH1 Gene Transcription
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of MITF-M dependent genes involved in metabolism
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
|
- Resveratrol
- Selisistat
- Cambinol
|
|
Novel |
TOPBP1 |
DNA topoisomerase II binding protein 1 |
- 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
|
|
|
|
BLM |
BLM RecQ like helicase |
- Processive synthesis on the C-strand of the telomere
- SUMOylation of DNA damage response and repair proteins
- 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
- 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
|
|
- Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome
- 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
|
|
BRCA1 |
BRCA1 DNA repair associated |
- Meiotic synapsis
- SUMOylation of DNA damage response and repair proteins
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Metalloprotease DUBs
- 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
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Neddylation
- Transcriptional Regulation by E2F6
- Meiotic recombination
- Defective DNA double strand break response due to BRCA1 loss of function
- Defective DNA double strand break response due to BARD1 loss of function
- 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
- KEAP1-NFE2L2 pathway
- Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
|
|
- Ovarian cancer
- Breast cancer
|
|
CREBBP |
CREB binding lysine acetyltransferase |
- Regulation of gene expression by Hypoxia-inducible Factor
- BMAL1:CLOCK,NPAS2 activates circadian expression
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- PPARA activates gene expression
- Formation of the beta-catenin:TCF transactivating complex
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- NOTCH1 Intracellular Domain Regulates Transcription
- NOTCH1 Intracellular Domain Regulates Transcription
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
- HATs acetylate histones
- Attenuation phase
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Cytoprotection by HMOX1
- Heme signaling
- Nuclear events mediated by NFE2L2
- NPAS4 regulates expression of target genes
- Formation of paraxial mesoderm
- NFE2L2 regulating inflammation associated genes
- NFE2L2 regulating anti-oxidant/detoxification enzymes
- NFE2L2 regulates pentose phosphate pathway genes
- NFE2L2 regulating tumorigenic genes
- NFE2L2 regulating MDR associated enzymes
- NFE2L2 regulating ER-stress associated genes
- Regulation of NFE2L2 gene expression
- Regulation of NFE2L2 gene expression
- Zygotic genome activation (ZGA)
- Evasion by RSV of host interferon responses
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of PD-L1(CD274) transcription
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes
- Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters
- The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
|
- Colforsin
- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
|
- Rubinstein-Taybi syndrome
|
|
FANCD2 |
FA complementation group D2 |
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
|
|
|
|
HDAC3 |
histone deacetylase 3 |
- p75NTR negatively regulates cell cycle via SC1
- PPARA activates gene expression
- PPARA activates gene expression
- NOTCH1 Intracellular Domain Regulates Transcription
- Transcriptional activation of mitochondrial biogenesis
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- HDACs deacetylate histones
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Association of TriC/CCT with target proteins during biosynthesis
- Regulation of lipid metabolism by PPARalpha
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX2 regulates osteoblast differentiation
- Regulation of PTEN gene transcription
- Loss of MECP2 binding ability to the NCoR/SMRT complex
- Regulation of MECP2 expression and activity
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- HCMV Early Events
- STAT3 nuclear events downstream of ALK signaling
- Cytoprotection by HMOX1
- Heme signaling
- Heme signaling
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
- RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
|
- Valproic acid
- Decitabine
- Vorinostat
- Vorinostat
- Belinostat
- Pracinostat
- Romidepsin
- Panobinostat
- Phenylbutyric acid
- Mocetinostat
- Entinostat
- Abexinostat
- Givinostat
- Pyroxamide
|
|
|
HNRNPC |
heterogeneous nuclear ribonucleoprotein C |
- SUMOylation of RNA binding proteins
- mRNA Splicing - Major Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- RHOBTB2 GTPase cycle
- RHOBTB1 GTPase cycle
|
|
|