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. 0.34 0.65 0.5 - - domain S-adenosyl-L-methionine binding. {ECO:0000250}. 5474 5475 S-adenosyl-L-methionine binding. {ECO:0000250}. 0.54 0.38 0.33 - - domain LXXLL motif 1. 2686 2690 LXXLL motif 1. 0.69 0.51 0.69 - - domain LXXLL motif 2. 3038 3042 LXXLL motif 2. 0.25 0.55 0.75 - - domain LXXLL motif 3. 4222 4236 LXXLL motif 3. 0.61 0.78 0.44 - - domain LXXLL motif 4. 4253 4257 LXXLL motif 4. 0.38 0.65 0.21 - - domain LXXLL motif 5. 4463 4467 LXXLL motif 5. 0.26 0.2 0.34 - - domain LXXLL motif 6. 4990 4994 LXXLL motif 6. 0.72 0.22 0.7 - - 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 Missense_Mutation 4851 4851 p.D4851E 1.0 1.0 0.0 circle up mutation Splice_Site 4794 4794 p.K4794M 0.6 0.0 0.6 inv_triangle 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 3494 3494 p.P3494P 0.8 0.8 0.8 circle up mutation Frame_Shift_Del 3102 3102 p.P3102fs 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 Missense_Mutation 2191 2191 p.T2191M 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 2032 2032 p.K2032* 1.0 0.0 0.0 triangle up mutation Splice_Site 1956 1956 p.R1956M 0.6 0.0 0.6 inv_triangle up mutation Splice_Site 1774 1774 p.E1774* 0.6 0.0 0.6 inv_triangle up mutation Frame_Shift_Del 1601 1601 p.R1601fs 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 Frame_Shift_Del 886 886 p.P886fs 1.0 0.0 0.0 square up mutation Nonsense_Mutation 668 668 p.E668* 1.0 0.0 0.0 triangle up mutation Nonsense_Mutation 541 541 p.E541* 1.0 0.0 0.0 triangle up mutation Silent 368 368 p.V368V 0.8 0.8 0.8 circle up mutation Splice_Site 319 319 p.A319fs 0.6 0.0 0.6 inv_triangle up mutation Nonsense_Mutation 166 166 p.S166* 1.0 0.0 0.0 triangle up