PEVE_VERSION = "1.1.0" THRESHOLD_VERSION = "2024-01" MODELS = { "splice": "nileshhanotia/mutation-predictor-splice", "context": "nileshhanotia/mutation-predictor-v4", "protein": "nileshhanotia/mutation-pathogenicity-predictor", } SPLICE_PROB_HIGH = 0.90 SPLICE_PROB_MODERATE = 0.80 SPLICE_PROB_WEAK = 0.60 SPLICE_SIGNAL_MIN = 0.65 SPLICE_DOMINANT_MIN = SPLICE_PROB_HIGH ACTIVATION_NORM_HIGH = 0.80 ACTIVATION_NORM_MODERATE = 0.70 ACTIVATION_NORM_WEAK = 0.60 CONTEXT_ACTIVE_MIN = ACTIVATION_NORM_MODERATE SEQUENCE_WINDOW = 401 WINDOW_BP = 401 WINDOW_HALF = WINDOW_BP // 2 PEAK_OFF_CENTER_FRAC = 0.10 BIOCHEMICAL_RISK_ACTIVE = 0.60 AF_RARITY_THRESHOLD = 0.001 AF_HIGH_CONFLICT = 0.010 BOUNDARY_TOLERANCE = 0.05 VEP_CONSEQUENCE_MAP = { "missense_variant": "substitution_missense", "synonymous_variant": "substitution_synonymous", "stop_gained": "stop_gained", "stop_lost": "stop_gained", "start_lost": "start_lost", "frameshift_variant": "frameshift", "inframe_insertion": "in_frame_indel", "inframe_deletion": "in_frame_indel", "splice_donor_variant": "canonical_splice", "splice_acceptor_variant": "canonical_splice", "splice_region_variant": "canonical_splice", "intron_variant": "deep_intronic", "5_prime_utr_variant": "utr_regulatory", "3_prime_utr_variant": "utr_regulatory", "upstream_gene_variant": "utr_regulatory", "downstream_gene_variant": "utr_regulatory", "regulatory_region_variant": "utr_regulatory", } L3_SUBSTITUTION_INVALID = { "frameshift", "stop_gained", "start_lost", "canonical_splice", "in_frame_indel", "deep_intronic", "utr_regulatory", } GNOMAD_VERSION = "4.0" AF_POPULATIONS = ["afr", "amr", "asj", "eas", "fin", "mid", "nfe", "sas"] BAND_COLORS = { "High": "#d73027", "Moderate": "#fc8d59", "Weak": "#fee090", "Inactive": "#abd9e9", "Active": "#4575b4", "Insufficient": "#aaaaaa", }