| Name | Tetralogy of Fallot (TOF) (U:Y) |
| Description | Pseudouridylation level on snRNA U2 depends on expression level of scaRNA1that is linked with TOF |
| Related RNA reaction | U:Y |
| Found in RNA | snRNA |
| Modified Transcript | snRNA U2 |
| Mapping Technology | Ψ-seq |
| Quantification techniques | qPCR |
| Acronym | Full name | Enzyme Role | Organism | Comment |
|---|---|---|---|---|
| PUS7 | Pseudouridylate synthase 7 homolog | None | Homo sapiens |
| ID | Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|---|
| 1055 | Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly,Short Stature, and Aggressive Behavior. | de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S | Am J Hum Genet | [details] | 30526862 | S0002-9297(18)30402-6 |