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. 2024 Oct 3;56(10):2027–2035. doi: 10.1038/s41588-024-01913-5

Extended Data Fig. 2. B cell-specific expression of TNFRSF17 and muscle-specific expression of RYR1 and CACNA1S.

Extended Data Fig. 2

a, Single-cell expression status of TNFRSF17 in 31,021 human peripheral blood mononuclear cells. In the right panel, TNFRSF17-expressing cells are highlighted. Color intensity indicates TNFRSF17 expression level. The left panel shows the cell population. Data were obtained from Single Cell Portal (Single Cell Comparison: PBMC data). b,c, Muscle-specific expression of RYR1 (b) and CACNA1S (c). Numbers of samples are shown after the organ name. Violin plots show distribution of gene expression in TPM. Boxplot shows the median value as the centerline; box boundaries show the first and third quartiles and whiskers extending 1.5 times the interquartile range. d, Strong association of CACNA1S with creatine kinase (CK) levels. Regional plot, beta estimate, PPI, and AAF of rs3850625 are indicated. The numbers of individuals included in the analysis are shown after the trait names. PPI, posterior probability of inclusion; AAF, alternate allele frequency; BBJ, Biobank Japan; EAS, East Asian; AFR, African; AMR, Admixed American; ASJ, Ashkenazi Jewish; FIN, Finnish; NFE, non-Finnish European; OTH, others. AAF was obtained from the gnomAD dataset. The numbers of individuals included in the association analysis are found in Supplementary Table 1.