Fig. 3: Non-synonymous mutations and Chromosomal Copy Number Variations in LGDIT, SMARCB1-mutant, and Atypical teratoid/rhabdoid tumor (AT/RT). | npj Genomic Medicine

Fig. 3: Non-synonymous mutations and Chromosomal Copy Number Variations in LGDIT, SMARCB1-mutant, and Atypical teratoid/rhabdoid tumor (AT/RT).

From: Malignant transformation of low-grade diffusely infiltrative tumor (LGDIT), SMARCB1-mutant to atypical teratoid/rhabdoid tumor (AT/RT)

Fig. 3

a Genes with non-synonymous mutations that have damaging effects in LGDIT, SMARCB1-mutant, and/or AT/RT. (Left) Chromosomal positions of non-synonymous mutations are mapped across the genome, with mutation types denoted by color: red dots represent mutations common to both LGDIT, SMARCB1-mutant, and AT/RT, yellow dots indicate mutations specific to LGDIT, SMARCB1-mutant, and green dots indicate mutations specific to AT/RT. (Right) heatmap showing the overlap and specificity of genes carrying non-synonymous mutations with damaging effects in LGDIT, SMARCB1-mutant, and AT/RT. Genes are categorized into LGDIT, SMARCB1-mutant-specific, AT/RT-specific, or common to both tumors. b Chromosomal CNVs in LGDIT, SMARCB1-mutant, and AT/RT across whole chromosomes. CNV profiles across all chromosomes in LGDIT, SMARCB1-mutant, (top) and AT/RT (bottom). CNV profiles derived from WGS-based analysis (left) and EPIC array-based analysis (right) are shown. Chromosome 19 is highlighted with a red box. The x-axis indicates chromosome number, while the y-axis shows the log2 ratio of copy number alterations.

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