LncRNA Information | ||||||
---|---|---|---|---|---|---|
ID | EL1071 | Name | PISRT1 | Aliases | NCRNA00195 | |
Species | Homo sapiens | Chromosome | 3 | Start site | 139232992 | |
End site | 139233522 | Chain | minus | Exon NO. | 1 | |
Assembly | Ensembl Release 89 | Class | lincRNA | NCBI accession | NR_027070 | |
Ensembl | ENSG00000281473 | Sequence |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | Method | Sample | Expression pattern | Dysfunction type | Description | PMID | Source | ||
blepharophimosis syndrome | N/A | N/A | N/A | mutation | The blepharophimosis syndrome (BPES) is driven by dysregulation of the FOXL2 gene, numerous extragenic mutations have been reported in patients. One particular deletion occurring 283 kb away from FOXL2 disrupts a lncRNA, PISRT1, that was shown by chromatin confirmation capture to physically loop with FOXL2. | 20930520 | LncRNADisease | ||