Related LncRNAs | |||||||||
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ID | lncRNA Name | Disease | Method | Sample | Expression pattern | Dysfunction type | Description | PMID | Source |
EL0248 | BPESC1 | blepharophimosis syndrome | N/A | N/A | N/A | mutation | BPESC1 is disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. | 10995571 | LncRNADisease |
EL1071 | PISRT1 | 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 |