Figures
- FIGURE 1
Genetic components shared by congenital pulmonary airway malformation (CPAM) patients. The nodes represent CPAM patients and the edges represent selected “shared mutated genes”. The yellow nodes indicate CPAM patients with mutations in SYNE1. The red font denotes patients with mutations in genes that cause lung abnormalities in mouse models. Nine out of 18 (50%) patients were covered in this genetic component network. #: compound heterozygous and/or digenic inheritance; <>: shared interacting genes.
Tables
- TABLE 1
Genetic profile of the congenital pulmonary airway malformation (CPAM) patients included in this study
PPI: protein–protein interaction (or genes encoding interacting proteins). Bold: same variant identified in cancer (somatic); underlined: same variant identified in lung cancer (somatic). Recurrently mutated gene pairs (encoding interacting proteins) are grouped under the same grey shade. Each shade represents a different group of genes encoding interacting proteins. #: gene causally implicated in any human cancer; ¶: mouse model with lung abnormalities; +: gene implicated in congenital human disorders with features shared with those commonly found in CPAM patients; §: gene mutated in >10% lung cancer samples; ƒ: gene implicated in lung development.
Supplementary Material
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Supplementary material 00196-2018_supp
Supplementary table 00196-2018_supp_table
