feature type start end label R G B shape direction protein Name=KMT2B; Synonyms=HRX2, KIAA0304, MLL2, MLL4, TRX2, WBP7; 1 2715 Name=KMT2B; Synonyms=HRX2, KIAA0304, MLL2, MLL4, TRX2, WBP7; 0.7 0.9 0.9 - - domain Histone-lysine N-methyltransferase 2B. 2 2715 Histone-lysine N-methyltransferase 2B. 0.5 0.29 0.55 - - domain A.T hook 1. 37 44 A.T hook 1. 0.52 0.6 0.6 - - domain A.T hook 2. 110 117 A.T hook 2. 0.76 0.79 0.64 - - domain A.T hook 3. 357 365 A.T hook 3. 0.54 0.34 0.27 - - domain S-adenosyl-L-methionine binding. {ECO:0000250}. 2652 2653 S-adenosyl-L-methionine binding. {ECO:0000250}. 0.24 0.53 0.38 - - mutation Nonsense_Mutation 147 147 p.R147* 1.0 0.0 0.0 triangle up mutation Frame_Shift_Del 174 174 p.P174Qfs*20 1.0 0.0 0.0 square up mutation Frame_Shift_Del 314 314 p.V314* 1.0 0.0 0.0 square up mutation Missense_Mutation 535 535 p.R535L 1.0 1.0 0.0 circle up mutation Frame_Shift_Ins 553 553 p.K553Qfs*46 1.0 0.0 0.0 square up mutation Missense_Mutation 558 558 p.E558A 1.0 1.0 0.0 circle up mutation Missense_Mutation 651 651 p.Q651E 1.0 1.0 0.0 circle up mutation Missense_Mutation 734 734 p.Q734L 1.0 1.0 0.0 circle up mutation Missense_Mutation 778 778 p.A778S 1.0 1.0 0.0 circle up mutation Missense_Mutation 797 797 p.K797E 1.0 1.0 0.0 circle up mutation Silent 814 814 p.V814V 0.8 0.8 0.8 circle up mutation Missense_Mutation 996 996 p.K996N 1.0 1.0 0.0 circle up mutation Missense_Mutation 1044 1044 p.G1044V 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 1049 1049 p.A1049Rfs*133 1.0 0.0 0.0 square up mutation Missense_Mutation 1235 1235 p.R1235W 1.0 1.0 0.0 circle up mutation Missense_Mutation 1242 1242 p.D1242N 1.0 1.0 0.0 circle up mutation Missense_Mutation 1248 1248 p.R1248H 1.0 1.0 0.0 circle up mutation Missense_Mutation 1327 1327 p.R1327S 1.0 1.0 0.0 circle up mutation Missense_Mutation 1361 1361 p.D1361Y 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 1376 1376 p.Y1376* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 1412 1412 p.G1412V 1.0 1.0 0.0 circle up mutation Missense_Mutation 1488 1488 p.R1488W 1.0 1.0 0.0 circle up mutation Missense_Mutation 1579 1579 p.R1579H 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 1620 1620 p.E1620* 1.0 0.0 0.0 triangle up mutation Silent 1743 1743 p.L1743L 0.8 0.8 0.8 circle up mutation Missense_Mutation 1761 1761 p.S1761P 1.0 1.0 0.0 circle up mutation Missense_Mutation 1773 1773 p.R1773H 1.0 1.0 0.0 circle up mutation Frame_Shift_Ins 1880 1880 p.V1880Cfs*92 1.0 0.0 0.0 square up mutation Frame_Shift_Del 1879 1879 p.G1879Vfs*16 1.0 0.0 0.0 square up mutation Frame_Shift_Del 1879 1879 p.G1879Vfs*16 1.0 0.0 0.0 square up mutation Missense_Mutation 1888 1888 p.P1888R 1.0 1.0 0.0 circle up mutation Missense_Mutation 1967 1967 p.P1967L 1.0 1.0 0.0 circle up mutation Frame_Shift_Del 2080 2080 p.G2080Afs*11 1.0 0.0 0.0 square up mutation Frame_Shift_Del 2123 2123 p.G2123Vfs*30 1.0 0.0 0.0 square up mutation Missense_Mutation 2150 2150 p.Q2150E 1.0 1.0 0.0 circle up mutation Missense_Mutation 2274 2274 p.Q2274H 1.0 1.0 0.0 circle up mutation Missense_Mutation 2283 2283 p.T2283S 1.0 1.0 0.0 circle up mutation Missense_Mutation 2341 2341 p.G2341V 1.0 1.0 0.0 circle up mutation Nonsense_Mutation 2530 2530 p.Q2530* 1.0 0.0 0.0 triangle up mutation Missense_Mutation 2632 2632 p.R2632L 1.0 1.0 0.0 circle up mutation Missense_Mutation 2645 2645 p.G2645V 1.0 1.0 0.0 circle up mutation Missense_Mutation 2708 2708 p.K2708Q 1.0 1.0 0.0 circle up