feature type start end label R G B shape direction protein Name=KMT2D; Synonyms=ALR, MLL2, MLL4; 1 5537 Name=KMT2D; Synonyms=ALR, MLL2, MLL4; 0.7 0.9 0.9 - - domain 15 X 5 AA repeats of S/P-P-P-E/P-E/A. 439 668 15 X 5 AA repeats of S/P-P-P-E/P-E/A. 0.37 0.75 0.79 - - domain S-adenosyl-L-methionine binding. {ECO:0000250}. 5474 5475 S-adenosyl-L-methionine binding. {ECO:0000250}. 0.45 0.79 0.51 - - domain LXXLL motif 1. 2686 2690 LXXLL motif 1. 0.68 0.49 0.32 - - domain LXXLL motif 2. 3038 3042 LXXLL motif 2. 0.73 0.77 0.56 - - domain LXXLL motif 3. 4222 4236 LXXLL motif 3. 0.55 0.54 0.66 - - domain LXXLL motif 4. 4253 4257 LXXLL motif 4. 0.27 0.47 0.56 - - domain LXXLL motif 5. 4463 4467 LXXLL motif 5. 0.26 0.31 0.21 - - domain LXXLL motif 6. 4990 4994 LXXLL motif 6. 0.44 0.23 0.74 - - mutation Splice_Site 5508 5508 p.X5508_splice 0.6 0.0 0.6 inv_triangle up mutation Missense_Mutation 5197 5197 p.A5197T 1.0 1.0 0.0 circle up mutation Missense_Mutation 5126 5126 p.F5126L 1.0 1.0 0.0 circle up mutation Missense_Mutation 5030 5030 p.R5030C 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 5004 5004 p.E5004* 1.0 0.0 0.0 triangle up mutation Splice_Site 4794 4794 p.X4794_splice 0.6 0.0 0.6 inv_triangle up mutation Missense_Mutation 4794 4794 p.K4794M 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 4709 4709 p.S4709* 1.0 0.0 0.0 triangle up mutation Nonsense_Mutation 3821 3821 p.Q3821* 1.0 0.0 0.0 triangle up mutation Silent 3575 3575 p.Q3575Q 0.8 0.8 0.8 circle up mutation Silent 3494 3494 p.P3494P 0.8 0.8 0.8 circle up mutation Frame_Shift_Del 3102 3102 p.P3102Lfs*17 1.0 0.0 0.0 square up mutation Missense_Mutation 2756 2756 p.L2756V 1.0 1.0 0.0 circle up mutation Silent 2724 2724 p.P2724P 0.8 0.8 0.8 circle up mutation Missense_Mutation 2510 2510 p.V2510I 1.0 1.0 0.0 circle up mutation Frame_Shift_Ins 2323 2323 p.T2323Dfs*3 1.0 0.0 0.0 square up mutation Splice_Site 2037 2037 p.X2037_splice 0.6 0.0 0.6 inv_triangle up mutation Nonsense_Mutation 2032 2032 p.K2032* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 1956 1956 p.R1956M 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 1774 1774 p.E1774* 1.0 0.0 0.0 triangle up mutation Frame_Shift_Del 1601 1601 p.R1601Lfs*3 1.0 0.0 0.0 square up mutation Missense_Mutation 1552 1552 p.D1552H 1.0 1.0 0.0 circle up mutation Missense_Mutation 1376 1376 p.M1376V 1.0 1.0 0.0 circle up mutation Splice_Site 371 371 p.X371_splice 0.6 0.0 0.6 inv_triangle up mutation Frame_Shift_Del 319 319 p.A319Cfs*12 1.0 0.0 0.0 square up mutation Nonsense_Mutation 166 166 p.S166* 1.0 0.0 0.0 triangle up