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Fig. 3

ID

ZDB-FIG-250707-65

Publication

Neelathi et al., 2025 - Variants in NR6A1 cause a novel oculo vertebral renal syndrome

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Fig. 3

NR6A1 gene expression in ocular and body tissues.

a Comparative levels of NR6A1 from publicly available bulk human tissue RNA-sequencing (RNA-Seq) datasets accessed on the eyeIntegration website (https://eyeintegration.nei.nih.gov/). On average, expression is higher in embryonic and induced pluripotent stem cells (ESC, iPSC, respectively) than in adult ocular tissues. b Bulk RNA-Seq data in human retinal fetal tissue from two studies suggests NR6A1 expression is highest in early stages of development, including the window of optic fissure closure (lavender box). NR6A1 expression is plotted against the tissue age (days post conception, dpc). A linear regression analysis was added for each paper’s data from the 40 to 80 dpc and 80 to 160 dpc samples. c The density correlation plot (closer to −1 and 1 is more negatively or positively correlated, respectively) shows ten notable coloboma associated genes with highly ranked correlations with NR6A1 expression across eyeIntegration curated fetal retina and RPE tissues. This enrichment was not seen in adult tissues. d Among systemic tissues, NR6A1 is expressed most highly in bone marrow and testes. The boxplots display the median, 25th and 75th percentiles, and 1.5 * interquartile range (IQR). Any data outside the 1.5 * IQR are plotted. In panels a and d the number of samples is given above the boxplots.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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