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POLB |
DNA polymerase beta |
- POLB-Dependent Long Patch Base Excision Repair
- Resolution of AP sites via the multiple-nucleotide patch replacement pathway
- Resolution of AP sites via the single-nucleotide replacement pathway
- APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway
- PCNA-Dependent Long Patch Base Excision Repair
- Ub-specific processing proteases
- Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
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- Cytarabine
- Iron
- dATP
- (1S)-1,2,3,4-TETRAHYDRO-BENZO[C]PHENANTHRENE-2,3,4-TRIOL
- Ferrous gluconate
- Ferrous succinate
- Ferrous ascorbate
- Ferrous fumarate
- Ferrous glycine sulfate
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POLE2 |
DNA polymerase epsilon 2, accessory subunit |
- Recognition of DNA damage by PCNA-containing replication complex
- PCNA-Dependent Long Patch Base Excision Repair
- Termination of translesion DNA synthesis
- HDR through Homologous Recombination (HRR)
- 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
- DNA replication initiation
- Activation of the pre-replicative complex
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PRDM1 |
PR/SET domain 1 |
- Regulation of TP53 Expression
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PSMD11 |
proteasome 26S subunit, non-ATPase 11 |
- Activation of NF-kappaB in B cells
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- ER-Phagosome pathway
- Cross-presentation of soluble exogenous antigens (endosomes)
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- Downstream TCR signaling
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- Separation of Sister Chromatids
- FCERI mediated NF-kB activation
- Autodegradation of the E3 ubiquitin ligase COP1
- Regulation of ornithine decarboxylase (ODC)
- ABC-family proteins mediated transport
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Hedgehog ligand biogenesis
- Hh mutants are degraded by ERAD
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- NIK-->noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAPK6/MAPK4 signaling
- UCH proteinases
- Ub-specific processing proteases
- Neutrophil degranulation
- CDT1 association with the CDC6:ORC:origin complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- G2/M Checkpoints
- Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN stability and activity
- Neddylation
- Regulation of expression of SLITs and ROBOs
- Interleukin-1 signaling
- Negative regulation of NOTCH4 signaling
- Antigen processing: Ubiquitination & Proteasome degradation
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RAP1B |
RAP1B, member of RAS oncogene family |
- Integrin signaling
- GRB2:SOS provides linkage to MAPK signaling for Integrins
- p130Cas linkage to MAPK signaling for integrins
- Rap1 signalling
- MAP2K and MAPK activation
- Neutrophil degranulation
- 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
- MET activates RAP1 and RAC1
- Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
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RCC1 |
regulator of chromosome condensation 1 |
- Rev-mediated nuclear export of HIV RNA
- Nuclear import of Rev protein
- Postmitotic nuclear pore complex (NPC) reformation
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RNF10 |
ring finger protein 10 |
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RPA2 |
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
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RUNX1 |
RUNX family transcription factor 1 |
- Pre-NOTCH Transcription and Translation
- Organic cation transport
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates estrogen receptor mediated transcription
- Regulation of RUNX1 Expression and Activity
- Regulation of RUNX1 Expression and Activity
- RUNX1 regulates expression of components of tight junctions
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- RUNX1 regulates transcription of genes involved in BCR signaling
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX1 regulates transcription of genes involved in interleukin signaling
- RUNX1 regulates transcription of genes involved in WNT signaling
- RUNX2 regulates genes involved in differentiation of myeloid cells
- RUNX3 regulates p14-ARF
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Chronic myeloid leukemia (CML)
- Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
- Acute myeloid leukemia (AML)
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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RUNX3 |
RUNX family transcription factor 3 |
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates NOTCH signaling
- Regulation of RUNX3 expression and activity
- RUNX3 Regulates Immune Response and Cell Migration
- RUNX3 Regulates Immune Response and Cell Migration
- RUNX3 regulates WNT signaling
- RUNX3 regulates YAP1-mediated transcription
- RUNX3 regulates RUNX1-mediated transcription
- RUNX3 regulates p14-ARF
- RUNX3 regulates BCL2L11 (BIM) transcription
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SAT1 |
spermidine/spermine N1-acetyltransferase 1 |
- Interconversion of polyamines
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- N-ethyl-N-[3-(propylamino)propyl]propane-1,3-diamine
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- Keratosis follicularis spinulosa decalvans
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SERPINB9 |
serpin family B member 9 |
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SIX1 |
SIX homeobox 1 |
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- Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)
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SIX2 |
SIX homeobox 2 |
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SIX3 |
SIX homeobox 3 |
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SIX6 |
SIX homeobox 6 |
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- Anophthalmia and microphthalmia (A/M)
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SMN1 |
survival of motor neuron 1, telomeric |
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- Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
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SNRPG |
small nuclear ribonucleoprotein polypeptide G |
- SLBP independent Processing of Histone Pre-mRNAs
- snRNP Assembly
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- RNA Polymerase II Transcription Termination
- SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
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TCF3 |
transcription factor 3 |
- Myogenesis
- Myogenesis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
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TCF4 |
transcription factor 4 |
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- Pitt-Hopkins syndrome, including: Pitt-Hopkins syndrome; Pitt-Hopkins-like syndrome
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