Novel |
DBN1 |
drebrin 1 |
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Novel |
GADD45G |
growth arrest and DNA damage inducible gamma |
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Novel |
PROP1 |
PROP paired-like homeobox 1 |
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- Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
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Novel |
SYNCRIP |
synaptotagmin binding cytoplasmic RNA interacting protein |
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ACTB |
actin beta |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- Gap junction degradation
- Formation of annular gap junctions
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- HATs acetylate histones
- Prefoldin mediated transfer of substrate to CCT/TriC
- Folding of actin by CCT/TriC
- EPHB-mediated forward signaling
- EPH-ephrin mediated repulsion of cells
- Adherens junctions interactions
- Adherens junctions interactions
- Recycling pathway of L1
- Recycling pathway of L1
- VEGFA-VEGFR2 Pathway
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- Cell-extracellular matrix interactions
- B-WICH complex positively regulates rRNA expression
- RHO GTPases activate IQGAPs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAP2K and MAPK activation
- UCH proteinases
- DNA Damage Recognition in GG-NER
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Clathrin-mediated endocytosis
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
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- Quercetin
- Phenethyl Isothiocyanate
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- Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
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CDC42 |
cell division cycle 42 |
- GPVI-mediated activation cascade
- EGFR downregulation
- Rho GTPase cycle
- Regulation of actin dynamics for phagocytic cup formation
- Regulation of actin dynamics for phagocytic cup formation
- CD28 dependent Vav1 pathway
- EPHB-mediated forward signaling
- EPHB-mediated forward signaling
- DCC mediated attractive signaling
- Inactivation of CDC42 and RAC1
- VEGFA-VEGFR2 Pathway
- Myogenesis
- Myogenesis
- RHO GTPases activate KTN1
- RHO GTPases activate IQGAPs
- RHO GTPases activate PAKs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate WASPs and WAVEs
- RHO GTPases Activate Formins
- RHO GTPases Activate Formins
- MAPK6/MAPK4 signaling
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
- G beta:gamma signalling through CDC42
- FCGR3A-mediated phagocytosis
- FCGR3A-mediated phagocytosis
- Factors involved in megakaryocyte development and platelet production
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- Aminophosphonic acid-guanylate ester
- Guanosine-5'-Diphosphate
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DEDD2 |
death effector domain containing 2 |
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ELAVL2 |
ELAV like RNA binding protein 2 |
- mRNA Splicing - Major Pathway
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ERG |
ETS transcription factor ERG |
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- Ewing's sarcoma
- Prostate cancer
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H3-4 |
H3.4 histone |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- Condensation of Prophase Chromosomes
- DNA Damage/Telomere Stress Induced Senescence
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Nonhomologous End-Joining (NHEJ)
- Processing of DNA double-strand break ends
- G2/M DNA damage checkpoint
- Meiotic recombination
- Inhibition of DNA recombination at telomere
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H3C1 |
H3 clustered histone 1 |
- Interleukin-7 signaling
- Interleukin-7 signaling
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- PRC2 methylates histones and DNA
- Condensation of Prophase Chromosomes
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- HDACs deacetylate histones
- PKMTs methylate histone lysines
- HDMs demethylate histones
- HATs acetylate histones
- HATs acetylate histones
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- SIRT1 negatively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- NoRC negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- DNA methylation
- Transcriptional regulation by small RNAs
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- RNA Polymerase I Promoter Opening
- RNA Polymerase I Promoter Escape
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Estrogen-dependent gene expression
- Meiotic recombination
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Amyloid fiber formation
- Factors involved in megakaryocyte development and platelet production
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HMGA1 |
high mobility group AT-hook 1 |
- Integration of provirus
- 2-LTR circle formation
- Integration of viral DNA into host genomic DNA
- Autointegration results in viral DNA circles
- APOBEC3G mediated resistance to HIV-1 infection
- Vpr-mediated nuclear import of PICs
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
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HOXC13 |
homeobox C13 |
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HOXD4 |
homeobox D4 |
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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IL7R |
interleukin 7 receptor |
- Interleukin-7 signaling
- Interleukin-7 signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
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- T-B+Severe combined immunodeficiencies (SCIDs), including the following eight diseases: X-linked SCID; Janus kinase-3 (Jak3) deficiency; IL-7 receptor alpha (IL7R alpha) deficiency; IL-2 receptor alpha (IL2R alpha) deficiency; CD45 deficiency; CD3 deficiency; Winged Helix Nude (WHN) deficiency; Immunodeficiency with thynoma
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POLR3D |
RNA polymerase III subunit D |
- Cytosolic sensors of pathogen-associated DNA
- RNA Polymerase III Chain Elongation
- RNA Polymerase III Transcription Termination
- RNA Polymerase III Abortive And Retractive Initiation
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 1 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 2 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
- RNA Polymerase III Transcription Initiation From Type 3 Promoter
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PTBP1 |
polypyrimidine tract binding protein 1 |
- FGFR2 alternative splicing
- mRNA Splicing - Major Pathway
- Processing of Capped Intron-Containing Pre-mRNA
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PTBP2 |
polypyrimidine tract binding protein 2 |
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PTEN |
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
- Prostate cancer
- Endometrial Cancer
- Glioma
- Small cell lung cancer
- Breast cancer
- Hepatocellular carcinoma
- Malignant melanoma
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RBFOX2 |
RNA binding fox-1 homolog 2 |
- FGFR2 alternative splicing
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