| Gene symbol |
Species |
Enzyme |
Editing site(s) |
Editing Type |
PMID |
RADAR |
REDIportal |
Description |
| PTPN6 |
Human |
NA |
1 |
A-to-I |
|
|
|
The involvement of post-transcriptional PTPN6 processing in leukemogenesis. The editing of PTPN6 mRNA mainly occurred as an A-->G conversion of A(7866), which represents the putative branch site in IVS3 of PTPN6 mRNA.And it results that aberrant splicing within the N-SH2 domain leading to retention of intron 3. |
| WT1 |
Human |
APOBEC3A |
1 |
G-to-A |
|
|
|
WT1 is a regulatory protein with dual tumor suppressor/oncogene activity depending on the isoforms expressed, including the Lys-Thr-Ser (KTS) variant. WT1 splicing variants with excluded tripeptide (-KTS) mainly act as transcriptional regulators, while the isoforms retaining the tripeptide (+KTS) show post-transcriptional activity. Wilms Tumor 1 (WT1) mutations and variants are implicated in several diseases, including Wilms tumor and acute myeloid leukemia (AML). |
| LDLR |
Human |
NA |
1 |
G-to-C |
|
|
|
Alternative RNA editing of l low density lipoprotein (LDL) receptor (R) gene leads to a new cryptic acceptor splice site 17 bp downstream in exon 8 producing a frameshift mutation and a predicted premature stop codon 1138 bp from the transcriptional start site. That cause skipping of exon 8 or the use of a novel cryptic acceptor splice site in exon 8 with a frameshift and premature stop codon. These changes lead to a marked reduction in LDL-R protein expressed in monocytes obtained from the Familial hypercholesterolemia patient. |
EDK
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