|
Novel |
ATXN1 |
ataxin 1 |
|
|
- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
|
|
Novel |
CFTR |
CF transmembrane conductance regulator |
- ABC-family proteins mediated transport
- RHO GTPases regulate CFTR trafficking
- Defective CFTR causes cystic fibrosis
- Ub-specific processing proteases
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- RHOQ GTPase cycle
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Aggrephagy
- Aggrephagy
- Developmental Lineage of Pancreatic Ductal Cells
|
- ATP
- Bumetanide
- Glyburide
- Ibuprofen
- Genistein
- Colforsin
- Phosphoaminophosphonic Acid-Adenylate Ester
- Dexfosfoserine
- Crofelemer
- Lonidamine
- Ivacaftor
- Dexibuprofen
- Lumacaftor
- Tezacaftor
- Elexacaftor
|
- Hereditary pancreatitis; Hereditary chronic pancreatitis
- Cystic fibrosis (CF)
- Congenital bilateral absence of vas deferens
|
|
Novel |
EXOSC3 |
exosome component 3 |
- 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
- Nuclear RNA decay
|
|
|
|
Novel |
FRK |
fyn related Src family tyrosine kinase |
- Neutrophil degranulation
- Regulation of PTEN stability and activity
|
- Dasatinib
- Regorafenib
- Fostamatinib
- Zanubrutinib
|
|
|
Novel |
H1-1 |
H1.1 linker histone, cluster member |
- Apoptosis induced DNA fragmentation
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
|
|
|
|
Novel |
H3C15 |
H3 clustered histone 15 |
- 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
- Assembly of the ORC complex at the origin of replication
- 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
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Amyloid fiber formation
- Chromatin modifications during the maternal to zygotic transition (MZT)
- Factors involved in megakaryocyte development and platelet production
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Regulation of PD-L1(CD274) transcription
|
|
|
|
Novel |
HNF1B |
HNF1 homeobox B |
- Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
- Regulation of gene expression in early pancreatic precursor cells
- Nephron development
- Developmental Lineage of Pancreatic Acinar Cells
- Developmental Lineage of Pancreatic Ductal Cells
- Developmental Lineage of Multipotent Pancreatic Progenitor Cells
|
|
- Uromodulin-associated kidney diseases, including: Medullary cystic kidney disease 2; Familial juvenile hyperuremic nephropathy; Glomerulocystic kidney disease
- Maturity onset diabetes of the young (MODY)
- Type II diabetes mellitus
|
|
Novel |
HPGD |
15-hydroxyprostaglandin dehydrogenase |
- Biosynthesis of Lipoxins (LX)
- Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
- Biosynthesis of D-series resolvins
- Biosynthesis of E-series 18(S)-resolvins
|
|
- Primary hypertrophic osteoarthropathy (PHO)
|
|
Novel |
IKZF3 |
IKAROS family zinc finger 3 |
|
|
|
|
Novel |
IRF4 |
interferon regulatory factor 4 |
- Interleukin-4 and Interleukin-13 signaling
- Interferon gamma signaling
- Interferon alpha/beta signaling
- Nuclear events stimulated by ALK signaling in cancer
- Regulation of MITF-M-dependent genes involved in pigmentation
|
|
|
|
Novel |
KDM1A |
lysine demethylase 1A |
- HDACs deacetylate histones
- HDMs demethylate histones
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Regulation of PTEN gene transcription
- Estrogen-dependent gene expression
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
- Potential therapeutics for SARS
- Negative Regulation of CDH1 Gene Transcription
- Factors involved in megakaryocyte development and platelet production
|
|
|
|
Novel |
MAD2L1BP |
MAD2L1 binding protein |
|
|
|
|
Novel |
MAN1A1 |
mannosidase alpha class 1A member 1 |
- Intra-Golgi traffic
- Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
|
|
|
|
Novel |
NFIC |
nuclear factor I C |
- RNA Polymerase III Transcription Termination
- RNA Polymerase III Abortive And Retractive Initiation
|
|
|
|
Novel |
NFIX |
nuclear factor I X |
- RNA Polymerase III Transcription Termination
- RNA Polymerase III Abortive And Retractive Initiation
|
|
|
|
Novel |
PIAS1 |
protein inhibitor of activated STAT 1 |
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- SUMOylation of transcription cofactors
- SUMOylation of intracellular receptors
- SUMOylation of intracellular receptors
- SUMOylation of chromatin organization proteins
- Formation of Incision Complex in GG-NER
- Regulation of IFNG signaling
|
|
|
|
Novel |
TLE1 |
TLE family member 1, transcriptional corepressor |
- Formation of the beta-catenin:TCF transactivating complex
- NOTCH1 Intracellular Domain Regulates Transcription
- Deactivation of the beta-catenin transactivating complex
- Repression of WNT target genes
- Repression of WNT target genes
- Negative Regulation of CDH1 Gene Transcription
|
|
|
|
Novel |
TLE2 |
TLE family member 2, transcriptional corepressor |
- Formation of the beta-catenin:TCF transactivating complex
- NOTCH1 Intracellular Domain Regulates Transcription
- Deactivation of the beta-catenin transactivating complex
- Repression of WNT target genes
- Repression of WNT target genes
|
|
|
|
Novel |
TLE5 |
TLE family member 5, transcriptional modulator |
- Repression of WNT target genes
|
|
|
|
Novel |
UTP18 |
UTP18 small subunit processome component |
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
|
|
|