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. 0.35 0.33 0.37 - - domain S-adenosyl-L-methionine binding. {ECO:0000250}. 5474 5475 S-adenosyl-L-methionine binding. {ECO:0000250}. 0.64 0.36 0.47 - - domain LXXLL motif 1. 2686 2690 LXXLL motif 1. 0.36 0.79 0.66 - - domain LXXLL motif 2. 3038 3042 LXXLL motif 2. 0.34 0.3 0.72 - - domain LXXLL motif 3. 4222 4236 LXXLL motif 3. 0.76 0.69 0.47 - - domain LXXLL motif 4. 4253 4257 LXXLL motif 4. 0.79 0.27 0.7 - - domain LXXLL motif 5. 4463 4467 LXXLL motif 5. 0.22 0.77 0.22 - - domain LXXLL motif 6. 4990 4994 LXXLL motif 6. 0.48 0.75 0.37 - - 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 5158 5158 p.E5158Q 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 4085 4085 p.Q4085* 1.0 0.0 0.0 triangle up mutation Nonsense_Mutation 3821 3821 p.Q3821* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 3761 3761 p.P3761S 1.0 1.0 0.0 circle 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