Scoring of the KNSTRN promoter variants (g.40382906C>T [GenBank:NC_000015.10] and g.40382931G>A [GenBank:NC_000015.10]) using DeepMEL2, a melanoma-specific deep-learning model to interpret how sequence variation affects gain or loss of TF binding sites.24DeepMEL2 predictions are based on training the model based on three classes/topics, which represent a general melanoma (general), a melanocytic (MEL), and a mesenchymal (MES) state. The visualization on the right shows the nucleotide targeted by the mutation (indicated by a red rectangle) as well as the nucleotides upstream and downstream and illustrates the disruption (g.40382931G>A [GenBank:NC_000015.10]) of an ETS transcription factor binding site that underlies the observed prediction difference. Gray shaded areas indicate an ETS binding site.
