Tissue specific expression and genetic regulation of SARS-CoV-2 receptors ACE2 and TMPRSS2

Expression of ACE2 and TMPRSS2 across human tissues

Figure 1. Gene expression for ACE2 and TMPRSS2 across tissues. TPM stands for Transcripts Per Kilobase Million. (data source:https://gtexportal.org/home/gene. Setting: Log scale)

Age and gender dependence of ACE2 expression and TMPRSS2 expression

Figure 2. Boxplots of gene expression across samples in different age groups controlling for confounders learned from SVA. The number in the parentheses in x-axis labels indicate the number of data points in each bin.

cis-eQTLs for ACE2 and TMPRSS2 across human tissues

Figure 3: Each panel shows the -log10(gene level cis-eQTL p-value) across the GTEx tissues. The asterisk on top of a bar represents that the gene has a q-value < 0.05 in that tissue, which indicates the gene has at least one significant cis-eQTL in that tissue (GTEx consortium. 2019, Biorxiv).

Rare variants and loss of function intolerance in ACE2 and TMPRSS2

Figure 4. Rare variation in ACE2 and TMPRSS2

Cellular deconvolution of GTEx Lung tissue reveals cell-type specific expression patterns of ACE2 and TMPRSS2

  • Epithelial cell of the lung
  • Endothelial cell of the lung
  • Stromal cell
  • Monocyte
  • Myeloid cell
  • Ciliated columnar cell of tracheobronchial tree
  • T cell
Figure 5. Scatter plots of GTEx v8 lung ACE2 expression over cell type proportion
Figure 6. Scatter plots of GTEx v8 lung TMPRSS2 expression over cell type proportion

Discussion

Supplementary Figures

Supplementary Figure 1. Boxplots of gene expression across samples in different age groups. The expression of each gene is corrected for sex, five genotype PCs, death circumstances, RIN number, total ischemic time, and exonic rate. The number in the parentheses in x-axis labels indicate the number of data points in each bin.
Supplementary Figure 2. Compare association tests between using inferred SVs and known confounders. Each dot in the plots represent the test for one gene, in a tissue, for either age or sex. The significant hits represent the associations with FDR < 0.05 when controlling for SVs.

Supplementary Tables

* Bold indicates the significant associations at FDR < 0.05.

Code availability

References

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Computational genomics graduate student in Battle Lab at Johns Hopkins

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Yuan He

Yuan He

Computational genomics graduate student in Battle Lab at Johns Hopkins

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