Novel |
ANXA10 |
annexin A10 |
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Novel |
CLCN3 |
chloride voltage-gated channel 3 |
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Novel |
GTF2H4 |
general transcription factor IIH subunit 4 |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Tat-mediated elongation of the HIV-1 transcript
- NoRC negatively regulates rRNA expression
- Formation of Incision Complex in GG-NER
- Dual Incision in GG-NER
- RNA Polymerase II Pre-transcription Events
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- TP53 Regulates Transcription of DNA Repair Genes
- mRNA Capping
- RNA Polymerase I Transcription Initiation
- RNA Polymerase I Promoter Escape
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase I Transcription Termination
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
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Novel |
H2BC21 |
H2B clustered histone 21 |
- 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
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- 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)
- DNA Damage/Telomere Stress Induced Senescence
- HDACs deacetylate histones
- HATs acetylate histones
- HATs acetylate histones
- 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
- Ub-specific processing proteases
- 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
- Deposition of new CENPA-containing nucleosomes at the centromere
- G2/M DNA damage checkpoint
- 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
- Inhibition of DNA recombination at telomere
- Amyloid fiber formation
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Novel |
HAND2 |
heart and neural crest derivatives expressed 2 |
- Transcriptional regulation by RUNX2
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Novel |
HIP1R |
huntingtin interacting protein 1 related |
- Golgi Associated Vesicle Biogenesis
- Clathrin-mediated endocytosis
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Novel |
RTN4R |
reticulon 4 receptor |
- Axonal growth inhibition (RHOA activation)
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Novel |
TAF9 |
TATA-box binding protein associated factor 9 |
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- HATs acetylate histones
- RNA Polymerase II Pre-transcription Events
- Regulation of TP53 Activity through Phosphorylation
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
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ATRX |
ATRX chromatin remodeler |
- 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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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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CSN2 |
casein beta |
- Nuclear signaling by ERBB4
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CTNNAL1 |
catenin alpha like 1 |
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EXOSC4 |
exosome component 4 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- mRNA decay by 3' to 5' exoribonuclease
- Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- KSRP (KHSRP) binds and destabilizes mRNA
- Major pathway of rRNA processing in the nucleolus and cytosol
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FEZ1 |
fasciculation and elongation protein zeta 1 |
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FEZ2 |
fasciculation and elongation protein zeta 2 |
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KIF3A |
kinesin family member 3A |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- MHC class II antigen presentation
- Hedgehog 'off' state
- Intraflagellar transport
- Activation of SMO
- Activation of SMO
- COPI-dependent Golgi-to-ER retrograde traffic
- Kinesins
- Kinesins
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LRRK1 |
leucine rich repeat kinase 1 |
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LRRK2 |
leucine rich repeat kinase 2 |
- PTK6 promotes HIF1A stabilization
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- Lewy body dementia (LBD); Dementia with Lewy bodies (DLB)
- Parkinson's disease (PD)
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MFHAS1 |
malignant fibrous histiocytoma amplified sequence 1 |
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MRE11 |
MRE11 homolog, double strand break repair nuclease |
- Cytosolic sensors of pathogen-associated DNA
- DNA Damage/Telomere Stress Induced Senescence
- IRF3-mediated induction of type I IFN
- HDR through Single Strand Annealing (SSA)
- HDR through MMEJ (alt-NHEJ)
- 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
- Regulation of TP53 Activity through Phosphorylation
- G2/M DNA damage checkpoint
- Meiotic recombination
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- 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
- 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)
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PPP2R5A |
protein phosphatase 2 regulatory subunit B'alpha |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- CTLA4 inhibitory signaling
- Platelet sensitization by LDL
- 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
- S33 mutants of beta-catenin aren't phosphorylated
- S37 mutants of beta-catenin aren't phosphorylated
- S45 mutants of beta-catenin aren't phosphorylated
- T41 mutants of beta-catenin aren't phosphorylated
- APC truncation mutants have impaired AXIN binding
- AXIN missense mutants destabilize the destruction complex
- Truncations of AMER1 destabilize the destruction complex
- RHO GTPases Activate Formins
- RAF activation
- Negative regulation of MAPK pathway
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Mitotic Prometaphase
- EML4 and NUDC in mitotic spindle formation
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