Modomics - A Database of RNA Modifications


NameTetralogy of Fallot (TOF) (U:Y)
DescriptionPseudouridylation level on snRNA U2 depends on expression level of scaRNA1that is linked with TOF
Related RNA reactionU:Y
Found in RNAsnRNA
Modified TranscriptsnRNA U2
Mapping TechnologyΨ-seq
Quantification techniquesqPCR

Enzymes connected to Tetralogy of Fallot (TOF):

Acronym Full name Enzyme Role Organism Comment
PUS7 Pseudouridylate synthase 7 homolog None Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
1055 Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly,Short Stature, and Aggressive Behavior. de Brouwer APM Am J Hum Genet [details] 30526862 S0002-9297(18)30402-6