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BRCA1
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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
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- Ovarian cancer
- Breast cancer
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CDC6
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cell division cycle 6 |
- Transcription of E2F targets under negative control by DREAM complex
- Activation of ATR in response to replication stress
- CDC6 association with the ORC:origin complex
- Assembly of the pre-replicative complex
- Orc1 removal from chromatin
- Activation of the pre-replicative complex
- CDK-mediated phosphorylation and removal of Cdc6
- G1/S-Specific Transcription
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CDKN2C
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cyclin dependent kinase inhibitor 2C |
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Cyclin D associated events in G1
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CDX2
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caudal type homeobox 2 |
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
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CHD4
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chromodomain helicase DNA binding protein 4 |
- HDACs deacetylate histones
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- Regulation of TP53 Activity through Acetylation
- RNA Polymerase I Transcription Initiation
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- NGF-stimulated transcription
- Potential therapeutics for SARS
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Transcriptional regulation of brown and beige adipocyte differentiation by EBF2
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
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CHEK1
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checkpoint kinase 1 |
- Signaling by SCF-KIT
- Activation of ATR in response to replication stress
- 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
- Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- Transcriptional Regulation by E2F6
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- XL844
- Enzastaurin
- CHIR-124
- N-{5-[4-(4-METHYLPIPERAZIN-1-YL)PHENYL]-1H-PYRROLO[2,3-B]PYRIDIN-3-YL}NICOTINAMIDE
- 3-(5-{[4-(AMINOMETHYL)PIPERIDIN-1-YL]METHYL}-1H-INDOL-2-YL)QUINOLIN-2(1H)-ONE
- 2,2'-{[9-(HYDROXYIMINO)-9H-FLUORENE-2,7-DIYL]BIS(OXY)}DIACETIC ACID
- (2S)-1-AMINO-3-[(5-NITROQUINOLIN-8-YL)AMINO]PROPAN-2-OL
- 2-(cyclohexylamino)benzoic acid
- 3-(5-{[4-(AMINOMETHYL)PIPERIDIN-1-YL]METHYL}-1H-INDOL-2-YL)-1H-INDAZOLE-6-CARBONITRILE
- (3Z)-6-(4-HYDROXY-3-METHOXYPHENYL)-3-(1H-PYRROL-2-YLMETHYLENE)-1,3-DIHYDRO-2H-INDOL-2-ONE
- 5-ETHYL-3-METHYL-1,5-DIHYDRO-4H-PYRAZOLO[4,3-C]QUINOLIN-4-ONE
- (5-{3-[5-(PIPERIDIN-1-YLMETHYL)-1H-INDOL-2-YL]-1H-INDAZOL-6-YL}-2H-1,2,3-TRIAZOL-4-YL)METHANOL
- 1-(5-CHLORO-2-METHOXYPHENYL)-3-{6-[2-(DIMETHYLAMINO)-1-METHYLETHOXY]PYRAZIN-2-YL}UREA
- (3-ENDO)-8-METHYL-8-AZABICYCLO[3.2.1]OCT-3-YL 1H-PYRROLO[2,3-B]PYRIDINE-3-CARBOXYLATE
- 18-CHLORO-11,12,13,14-TETRAHYDRO-1H,10H-8,4-(AZENO)-9,15,1,3,6-BENZODIOXATRIAZACYCLOHEPTADECIN-2-ONE
- 1-(5-CHLORO-2,4-DIMETHOXYPHENYL)-3-(5-CYANOPYRAZIN-2-YL)UREA
- 4-(6-{[(4-METHYLCYCLOHEXYL)AMINO]METHYL}-1,4-DIHYDROINDENO[1,2-C]PYRAZOL-3-YL)BENZOIC ACID
- 4-[3-(1H-BENZIMIDAZOL-2-YL)-1H-INDAZOL-6-YL]-2-METHOXYPHENOL
- (2R)-1-[(5,6-DIPHENYL-7H-PYRROLO[2,3-D]PYRIMIDIN-4-YL)AMINO]PROPAN-2-OL
- (2R)-3-{[(4Z)-5,6-DIPHENYL-6,7-DIHYDRO-4H-PYRROLO[2,3-D]PYRIMIDIN-4-YLIDENE]AMINO}PROPANE-1,2-DIOL
- N-(5,6-DIPHENYLFURO[2,3-D]PYRIMIDIN-4-YL)GLYCINE
- (5,6-DIPHENYL-FURO[2,3-D]PYRIMIDIN-4-YLAMINO)-ACETIC
- 3-AMINO-3-BENZYL-[4.3.0]BICYCLO-1,6-DIAZANONAN-2-ONE
- 3-(1H-BENZIMIDAZOL-2-YL)-1H-INDAZOLE
- 2-[5,6-BIS-(4-METHOXY-PHENYL)-FURO[2,3-D]PYRIMIDIN-4-YLAMINO]-ETHANOL
- 2-[(5,6-DIPHENYLFURO[2,3-D]PYRIMIDIN-4-YL)AMINO]ETHANOL
- REL-(9R,12S)-9,10,11,12-TETRAHYDRO-9,12-EPOXY-1H-DIINDOLO[1,2,3-FG:3',2',1'-KL]PYRROLO[3,4-I][1,6]BENZODIAZOCINE-1,3(2H)-DIONE
- 1-[(2S)-4-(5-phenyl-1H-pyrazolo[3,4-b]pyridin-4-yl)morpholin-2-yl]methanamine
- N-(4-OXO-5,6,7,8-TETRAHYDRO-4H-[1,3]THIAZOLO[5,4-C]AZEPIN-2-YL)ACETAMIDE
- 5,6,7,8-TETRAHYDRO[1]BENZOTHIENO[2,3-D]PYRIMIDIN-4(3H)-ONE
- [4-amino-2-(tert-butylamino)-1,3-thiazol-5-yl](phenyl)methanone
- 2-(methylsulfanyl)-5-(thiophen-2-ylmethyl)-1H-imidazol-4-ol
- 6-MORPHOLIN-4-YL-9H-PURINE
- 1-[(2S)-4-(5-BROMO-1H-PYRAZOLO[3,4-B]PYRIDIN-4-YL)MORPHOLIN-2-YL]METHANAMINE
- Prexasertib
- Fostamatinib
- LY-2608204
- PF-477736
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CHEK2
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checkpoint kinase 2 |
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
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- XL844
- Enzastaurin
- Fostamatinib
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- Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL)
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CHUK
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component of inhibitor of nuclear factor kappa B kinase complex |
- Activation of NF-kappaB in B cells
- Activation of NF-kappaB in B cells
- ER-Phagosome pathway
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- AKT phosphorylates targets in the cytosol
- Downstream TCR signaling
- FCERI mediated NF-kB activation
- TAK1-dependent IKK and NF-kappa-B activation
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- IKBKB deficiency causes SCID
- IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR)
- IkBA variant leads to EDA-ID
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Constitutive Signaling by AKT1 E17K in Cancer
- NIK-->noncanonical NF-kB signaling
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- Interleukin-1 signaling
- TRAF6 mediated NF-kB activation
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
- Regulation of NF-kappa B signaling
- PKR-mediated signaling
- SLC15A4:TASL-dependent IRF5 activation
- Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
- Modulation of host responses by IFN-stimulated genes
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- Aminosalicylic acid
- Mesalazine
- Acetylcysteine
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COPS5
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COP9 signalosome subunit 5 |
- DNA Damage Recognition in GG-NER
- Formation of TC-NER Pre-Incision Complex
- Cargo recognition for clathrin-mediated endocytosis
- Neddylation
- GSK3B-mediated proteasomal degradation of PD-L1(CD274)
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CREB1
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cAMP responsive element binding protein 1 |
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- Adenosine phosphate
- Naloxone
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CRX
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cone-rod homeobox |
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- Leber congenital amaurosis (LCR)
- Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
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CSNK1A1
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casein kinase 1 alpha 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- CTNNB1 S33 mutants aren't phosphorylated
- CTNNB1 S37 mutants aren't phosphorylated
- CTNNB1 S45 mutants aren't phosphorylated
- CTNNB1 T41 mutants aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Activation of SMO
- Activation of SMO
- Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A
- Maturation of nucleoprotein
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CSNK1D
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casein kinase 1 delta |
- COPII-mediated vesicle transport
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- Major pathway of rRNA processing in the nucleolus and cytosol
- AURKA Activation by TPX2
- The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
- Phosphorylation and nuclear translocation of the CRY:PER:kinase complex
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CTTN
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cortactin |
- RHO GTPases activate PAKs
- Clathrin-mediated endocytosis
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CXXC5
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CXXC finger protein 5 |
- Estrogen-dependent gene expression
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CYREN
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cell cycle regulator of NHEJ |
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DAXX
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death domain associated protein |
- SUMOylation of transcription cofactors
- Regulation of TP53 Degradation
- HCMV Early Events
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
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DCAF1
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DDB1 and CUL4 associated factor 1 |
- Antigen processing: Ubiquitination & Proteasome degradation
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DCK
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deoxycytidine kinase |
- Pyrimidine salvage
- Purine salvage
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- Fludarabine
- 2'-Deoxycytidine
- Elacytarabine
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DCLRE1C
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DNA cross-link repair 1C |
- Nonhomologous End-Joining (NHEJ)
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- T-B-Severe combined immunodeficiencies (SCIDs), including the following four diseases: Adenosine deaminase (ADA) deficiency; Recombinase activating gene (RAG) deficiencies; Artemis deficiency; Reticular dysgenesis
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