FIGURE

Fig. 4

ID

ZDB-FIG-220623-66

Publication

Silvennoinen et al., 2022 - SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility

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Fig. 4

a Chromosomal position of rs7587026 with respect to the three known SCN1A promoter regions. rs7587026 falls within the same LD block as the P1b promoter. X-axis: position on chromosome 2, Y-axis: elements that were considered (SCN1A promoter regions, LD blocks defined using the BigLD function and PLINK). b The top half of the figure shows the genetic position of the three SCN1A promoter regions, rs7587026, as well as a representation of the LD blocks that span the locus; the bottom half shows the sequence constraint level. c Level of sequence constraint of the genetic region surrounding rs7587026. Sequence constraint is expressed as context-dependent tolerance score (CDTS), indicating the likelihood of variation. Negative CDTS scores indicate highly constrained regions, infrequently mutated in healthy individuals and more likely to be functionally relevant

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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