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. 0.57 0.61 0.34 - - domain S-adenosyl-L-methionine binding. {ECO:0000250}. 5474 5475 S-adenosyl-L-methionine binding. {ECO:0000250}. 0.32 0.68 0.49 - - domain LXXLL motif 1. 2686 2690 LXXLL motif 1. 0.39 0.39 0.35 - - domain LXXLL motif 2. 3038 3042 LXXLL motif 2. 0.29 0.42 0.73 - - domain LXXLL motif 3. 4222 4236 LXXLL motif 3. 0.8 0.69 0.69 - - domain LXXLL motif 4. 4253 4257 LXXLL motif 4. 0.68 0.43 0.54 - - domain LXXLL motif 5. 4463 4467 LXXLL motif 5. 0.21 0.75 0.75 - - domain LXXLL motif 6. 4990 4994 LXXLL motif 6. 0.76 0.22 0.29 - - mutation Missense_Mutation 5533 5533 p.R5533Q 1.0 1.0 0.0 circle up mutation Missense_Mutation 5533 5533 p.R5533W 1.0 1.0 0.0 circle up mutation Missense_Mutation 5214 5214 p.R5214H 1.0 1.0 0.0 circle up mutation Missense_Mutation 5197 5197 p.A5197T 1.0 1.0 0.0 circle up mutation Missense_Mutation 5172 5172 p.G5172E 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.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 Silent 4478 4478 p.R4478R 0.8 0.8 0.8 circle up mutation Nonsense_Mutation 4244 4244 p.Q4244* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 4238 4238 p.R4238C 1.0 1.0 0.0 circle up mutation Missense_Mutation 4227 4227 p.M4227I 1.0 1.0 0.0 circle up mutation Missense_Mutation 4152 4152 p.L4152P 1.0 1.0 0.0 circle up mutation Missense_Mutation 4088 4088 p.S4088C 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 4085 4085 p.Q4085* 1.0 0.0 0.0 triangle up mutation In_Frame_Del 4028 4028 p.TVDPAVSSEATE4028del 0.0 0.0 1.0 square up mutation Nonsense_Mutation 4026 4026 p.Q4026* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 4012 4012 p.P4012T 1.0 1.0 0.0 circle up mutation Silent 4000 4000 p.G4000G 0.8 0.8 0.8 circle up mutation Missense_Mutation 3918 3918 p.Q3918L 1.0 1.0 0.0 circle 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 3380 3380 p.K3380Afs*42 1.0 0.0 0.0 square up mutation Nonsense_Mutation 3181 3181 p.E3181* 1.0 0.0 0.0 triangle up mutation Frame_Shift_Del 3102 3102 p.P3102fs 1.0 0.0 0.0 square up mutation Missense_Mutation 2877 2877 p.F2877L 1.0 1.0 0.0 circle up mutation Missense_Mutation 2756 2756 p.L2756V 1.0 1.0 0.0 circle up mutation Missense_Mutation 2725 2725 p.S2725N 1.0 1.0 0.0 circle up mutation Silent 2724 2724 p.P2724P 0.8 0.8 0.8 circle up mutation Frame_Shift_Del 2517 2517 p.N2517Ifs*26 1.0 0.0 0.0 square up mutation Missense_Mutation 2510 2510 p.V2510I 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 2354 2354 p.P2354Lfs*30 1.0 0.0 0.0 square up mutation Missense_Mutation 2343 2343 p.P2343L 1.0 1.0 0.0 circle up mutation Frame_Shift_Ins 2323 2323 p.T2323fs 1.0 0.0 0.0 square up mutation Nonsense_Mutation 2290 2290 p.E2290* 1.0 0.0 0.0 triangle up mutation Silent 2282 2282 p.R2282R 0.8 0.8 0.8 circle up mutation Missense_Mutation 2072 2072 p.R2072H 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 2032 2032 p.K2032* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 2007 2007 p.E2007V 1.0 1.0 0.0 circle up mutation Splice_Site 1956 1956 p.R1956M 0.6 0.0 0.6 inv_triangle up mutation Missense_Mutation 1791 1791 p.A1791S 1.0 1.0 0.0 circle 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 1591 1591 p.W1591L 1.0 1.0 0.0 circle up mutation Missense_Mutation 1552 1552 p.D1552H 1.0 1.0 0.0 circle up mutation Frame_Shift_Ins 1391 1391 p.E1391fs 1.0 0.0 0.0 square up mutation Missense_Mutation 1376 1376 p.M1376V 1.0 1.0 0.0 circle up mutation Missense_Mutation 1244 1244 p.V1244G 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 1235 1235 p.G1235Vfs*95 1.0 0.0 0.0 square up mutation Frame_Shift_Del 1235 1235 p.G1235Vfs*95 1.0 0.0 0.0 square up mutation Missense_Mutation 1207 1207 p.E1207D 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 1054 1054 p.P1054fs 1.0 0.0 0.0 square up mutation Nonsense_Mutation 560 560 p.E560* 1.0 0.0 0.0 triangle up mutation In_Frame_Del 502 502 p.P502del 0.0 0.0 1.0 square up mutation Frame_Shift_Ins 370 370 p.S370fs 1.0 0.0 0.0 square up mutation Silent 364 364 p.Q364Q 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 268 268 p.W268* 1.0 0.0 0.0 triangle up mutation Silent 176 176 p.T176T 0.8 0.8 0.8 circle up mutation Nonsense_Mutation 166 166 p.S166* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 148 148 p.G148S 1.0 1.0 0.0 circle up mutation Missense_Mutation 80 80 p.R80Q 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 77 77 p.H77Qfs*53 1.0 0.0 0.0 square up