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Fig. 6 | Human Genomics

Fig. 6

From: Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

Fig. 6

Genes impacted with clinically relevant mutations with restricted non-neuronal brain cell expression. A Loss-of-function (LOF) (red text), de novo/rare missense variants (blue text), ClinVar variants (green text) and their genomic location within the exons (blue squares) of non-neuronal genes (KANK1 and PLXNB1). Detailed variant information is provided in Additional file 3: Tables 17, 18. B Feature plot showing restrictive expression (scale red to white) of KANK1 and PLXNB1 across single-cell clusters from human brain. C Mean expression (grey) and fold change (red) of KANK1 and PLXNB1- human primary brain cell types (oligodendrocytes, astrocytes, oligodendrocyte progenitor cell (OPC), microglia, neurons). D Mean expression (green) and fold change (red) of KANK1 and PLXNB1- mouse primary brain cell types (oligodendrocytes, astrocytes, neurons). E Expression (TPM) of KANK1 and PLXNB1 across cell types of cerebrum and cerebellum regions of fetal brain

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Human Genomics

ISSN: 1479-7364