Novel |
ST14 |
ST14 transmembrane serine protease matriptase |
- Formation of the cornified envelope
- Formation of the cornified envelope
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- Urokinase
- Benzamidine
- Camostat
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- Ichthyosis with hypotrichosis
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Novel |
STMN1 |
stathmin 1 |
- Nuclear signaling by ERBB4
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Novel |
STRAP |
serine/threonine kinase receptor associated protein |
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- Positive Regulation of CDH1 Gene Transcription
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Novel |
SUSD2 |
sushi domain containing 2 |
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Novel |
TLR3 |
toll like receptor 3 |
- Trafficking and processing of endosomal TLR
- Toll Like Receptor 3 (TLR3) Cascade
- TICAM1, RIP1-mediated IKK complex recruitment
- RIP-mediated NFkB activation via ZBP1
- TLR3 deficiency - HSE
- UNC93B1 deficiency - HSE
- TICAM1 deficiency - HSE
- TRAF3 deficiency - HSE
- TLR3-mediated TICAM1-dependent programmed cell death
- TICAM1-dependent activation of IRF3/IRF7
- TICAM1,TRAF6-dependent induction of TAK1 complex
- Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation
- RSV-host interactions
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Novel |
TP53 |
tumor protein p53 |
- Activation of NOXA and translocation to mitochondria
- Activation of PUMA and translocation to mitochondria
- Pre-NOTCH Transcription and Translation
- Oxidative Stress Induced Senescence
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- DNA Damage/Telomere Stress Induced Senescence
- SUMOylation of transcription factors
- Autodegradation of the E3 ubiquitin ligase COP1
- Association of TriC/CCT with target proteins during biosynthesis
- Pyroptosis
- TP53 Regulates Metabolic Genes
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Interleukin-4 and Interleukin-13 signaling
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Regulation of TP53 Expression
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- G2/M DNA damage checkpoint
- G2/M Checkpoints
- Stabilization of p53
- Transcriptional activation of cell cycle inhibitor p21
- The role of GTSE1 in G2/M progression after G2 checkpoint
- Transcriptional Regulation by VENTX
- RUNX3 regulates CDKN1A transcription
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Loss of function of TP53 in cancer due to loss of tetramerization ability
- Signaling by ALK fusions and activated point mutants
- Regulation of NF-kappa B signaling
- Zygotic genome activation (ZGA)
- Factors involved in megakaryocyte development and platelet production
- PKR-mediated signaling
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- Acetylsalicylic acid
- Zinc
- Triethyl phosphate
- AZD 3355
- 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Chronic myeloid leukemia (CML)
- Breast cancer
- Non-small cell lung cancer
- Gastric cancer
- Adult T-cell leukemia
- Choriocarcinoma
- Esophageal cancer
- Glioma
- Pancreatic cancer
- Vulvar cancer
- Multiple myeloma
- Choroid plexus papilloma
- Ovarian cancer
- Hepatocellular carcinoma
- Squamous cell carcinoma
- Endometrial Cancer
- Penile cancer
- Cancer of the anal canal
- Hairy-cell leukemia
- Oral cancer
- Adrenal carcinoma
- Malignant melanoma
- Burkitt lymphoma
- Thyroid cancer
- Basal cell carcinoma
- Small cell lung cancer
- Gallbladder cancer
- Bladder cancer
- Laryngeal cancer
- Kaposi's sarcoma
- Cholangiocarcinoma
- Chronic lymphocytic leukemia (CLL)
- Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL)
- Malignant pleural mesothelioma
- Osteosarcoma
- Colorectal cancer
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Novel |
TSSK1B |
testis specific serine kinase 1B |
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Novel |
USP39 |
ubiquitin specific peptidase 39 |
- mRNA Splicing - Major Pathway
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Novel |
VHL |
von Hippel-Lindau tumor suppressor |
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- SUMOylation of ubiquitinylation proteins
- Neddylation
- Replication of the SARS-CoV-1 genome
- Replication of the SARS-CoV-2 genome
- RHOBTB3 ATPase cycle
- Antigen processing: Ubiquitination & Proteasome degradation
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- von Hippel-Lindau syndrome
- Congenital polycythemia; Familial erythrocytosis (ECYT)
- Renal cell carcinoma
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Novel |
XRCC1 |
X-ray repair cross complementing 1 |
- Resolution of AP sites via the single-nucleotide replacement pathway
- APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
- HDR through MMEJ (alt-NHEJ)
- Gap-filling DNA repair synthesis and ligation in GG-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
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AATF |
apoptosis antagonizing transcription factor |
- NRAGE signals death through JNK
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APP |
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1-dependent IKK and NF-kappa-B activation
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Gantenerumab
- Aducanumab
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Lecanemab
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ARHGAP1 |
Rho GTPase activating protein 1 |
- RHOA GTPase cycle
- RHOB GTPase cycle
- RHOC GTPase cycle
- CDC42 GTPase cycle
- RAC1 GTPase cycle
- RAC2 GTPase cycle
- RHOD GTPase cycle
- RHOQ GTPase cycle
- RHOG GTPase cycle
- RHOJ GTPase cycle
- RAC3 GTPase cycle
- RHOF GTPase cycle
- RND2 GTPase cycle
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ASF1A |
anti-silencing function 1A histone chaperone |
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
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ATM |
ATM serine/threonine kinase |
- DNA Damage/Telomere Stress Induced Senescence
- Regulation of HSF1-mediated heat shock response
- Autodegradation of the E3 ubiquitin ligase COP1
- HDR through Single Strand Annealing (SSA)
- 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
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Caspase Activators and Caspases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Meiotic recombination
- Pexophagy
- 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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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- Chronic lymphocytic leukemia (CLL)
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- 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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ATR |
ATR checkpoint kinase |
- Meiotic synapsis
- Activation of ATR in response to replication stress
- Regulation of HSF1-mediated heat shock response
- HDR through Single Strand Annealing (SSA)
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- Fanconi Anemia Pathway
- TP53 Regulates Transcription of DNA Repair Genes
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Impaired BRCA2 binding to RAD51
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- Alveolar rhabdomyosarcoma
- Seckel syndrome
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BAALC |
BAALC binder of MAP3K1 and KLF4 |
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BEX1 |
brain expressed X-linked 1 |
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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
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- Ovarian cancer
- Breast cancer
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BRCA2 |
BRCA2 DNA repair associated |
- 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
- Presynaptic phase of homologous DNA pairing and strand exchange
- 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 translocation to the nucleus
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
- Impaired BRCA2 binding to SEM1 (DSS1)
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- Ovarian cancer
- Fanconi anemia
- Breast cancer
- Pancreatic cancer
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