Figure legends
Figure 1: Schematic drawing of the workflow of this study: data
collection, preparation, FAIRification and downstream analysis.
Figure 2: Network illustrating the number of unique and overlappingMECP2 variations within and between nine Rett syndrome databases:
DECIPHER, Maastricht Rett dataset (MRD), ClinVar, Rettbase, KMD, EVS,
LOVD, EVA, and ExAC. Each node (circle) represents a database. The node
size correlates with the number of variants (between 30 and 4775), the
edge thickness correlates with the number of overlapping/shared variants
between the two databases (between 0 and 500). The colour of the charts
in the nodes represent the proportion of unique variants (blue) versus
variants shared with other databases (yellow).
Figure 3: Boxplots comparing prediction score value distribution
calculated by different tools from the benign, both and RTT causingMECP2 genetic variants. The effect prediction was done based on
conservation score (PolyPhen), four pathogenicity scores (SIFT, CADD,
MetaLR, and FATHMM.MKL), and the variant allele frequency in the GnomAD
dataset.
Figure 4: Distribution of RTT causing
and benign MECP2 missense variations. Amino acid positions
correspond to isoform MECP2-e2 (the result of translation initiated at
exon 2). Frequency is represented as the percentage of missense
variations falling in each position, from the total of missense
variations in cases or controls. In A) each MECP2 domain is coloured
differently, while in B) conserved deletions are coloured in yellow.
Domain abbreviations: N-terminal domain (NTD), methyl-DNA binding domain
(MDB), interdomain (ID), transcription repressor binding domain (TRD),
C-terminal domain (CTD).