ncRNA name | RP1-140A9.1 |
ncRNA Category | lncRNA |
ID | NA |
Ensembl | NA |
Synonyms | NA |
Disease name | Volkmann cataract |
Species | Homo sapiens |
Tissues/Cell_line | blood |
Methods | DNA sequencing, qRT-PCR, CLIP-seq |
Expression pattern | associated |
Functional description | The mutation in RP1-140A9.1 suggests the long non-coding RNA as the candidate cataract gene associated with the autosomal dominant inherited congenital cataract from CCV. The identified mutation, rs763295804, affects the donor splice site in the long non-coding RNA gene RP1-140A9.1 (ENSG00000231050). |
PubMed ID | 30820140 |
Year | 2019 |
Title | A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family. |
Drug-related ncRNA | NO |
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