| LncRNA Information | ||||||
|---|---|---|---|---|---|---|
| ID | EL0248 | Name | BPESC1 | Aliases | BPESC1; NCRNA00187 | |
| Species | Homo sapiens | Chromosome | 3 | Start site | 139104185 | |
| End site | 139125171 | Chain | plus | Exon NO. | 3 | |
| Assembly | Ensembl Release 89 | Class | lincRNA | NCBI accession | NR_026783 | |
| Ensembl | ENSG00000232416 | Sequence | ||||
| Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | Method | Sample | Expression pattern | Dysfunction type | Description | PMID | Source | ||
| 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 | ||