Integrated analysis of copy number variation-associated lncRNAs identifies candidates contributing to the etiologies of congenital kidney anomalies.

We analyzed lncRNAs located in CNV loci associated with congenital anomalies of the kidney and urinary tract (CAKUT). HSALNG0134318 at CNV 22q11 was identified as CAKUT related lncRNA, which was coexpressed with multiple known CAKUT associated genes. To validate our findings, we performed knockdown experiments in HEK293 cell line to characterize the trascriptomic profiles regulated by HSALNG0134318 in human embryonic kidney cells. RNA-seq of lncRNA HSALNG0134318 knockdown human embryonic kidney cells (HEK293) and the negative control cells. Three biological replicates were obtained for each sample.