Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000396946 [[2945774, 2946476], [2949683, 2949799], [2951805, 2951930], [2952920, 2953100], [2954870, 2955006], [2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968332], [2969625, 2969708], [2972168, 2972220], [2974086, 2974263], [2976670, 2976868], [2977540, 2977666], [2978312, 2978465], [2979382, 2979562], [2983845, 2984171], [2985452, 2985590], [2987208, 2987421], [2998133, 2998265], [3083300, 3083579]] [[2946271, 2946476], [2949683, 2949799], [2951805, 2951930], [2952920, 2953100], [2954870, 2955006], [2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968332], [2969625, 2969708], [2972168, 2972220], [2974086, 2974263], [2976670, 2976868], [2977540, 2977666], [2978312, 2978465], [2979382, 2979562], [2983845, 2984171], [2985452, 2985590], [2987208, 2987421], [2998133, 2998140]]
ENST00000356408 [[2987209, 2987421], [2998133, 2998265], [3020153, 3020214], [3083300, 3083479]] [[2987209, 2987421], [2998133, 2998140]]
ENST00000480332 [[2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962674]] None
ENST00000355508 [[2959113, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968329], [2969625, 2969694]] [[2959113, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968329], [2969625, 2969694]]
NM_001324281 [[2945708, 2946476], [2949683, 2949799], [2951805, 2951930], [2952920, 2953100], [2954870, 2955006], [2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968332], [2969625, 2969708], [2972168, 2972220], [2974086, 2974263], [2976670, 2976868], [2977540, 2977666], [2978312, 2978465], [2979382, 2979562], [2983845, 2984171], [2985452, 2985590], [2987208, 2987421], [2998133, 2998265], [3020153, 3020214], [3083300, 3083579]] [[2946271, 2946476], [2949683, 2949799], [2951805, 2951930], [2952920, 2953100], [2954870, 2955006], [2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968332], [2969625, 2969708], [2972168, 2972220], [2974086, 2974263], [2976670, 2976868], [2977540, 2977666], [2978312, 2978465], [2979382, 2979562], [2983845, 2984171], [2985452, 2985590], [2987208, 2987421], [2998133, 2998140]]
NM_032415 [[2945708, 2946476], [2949683, 2949799], [2951805, 2951930], [2952920, 2953100], [2954870, 2955006], [2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968332], [2969625, 2969708], [2972168, 2972220], [2974086, 2974263], [2976670, 2976868], [2977540, 2977666], [2978312, 2978465], [2979382, 2979562], [2983845, 2984171], [2985452, 2985590], [2987208, 2987421], [2998133, 2998265], [3083300, 3083579]] [[2946271, 2946476], [2949683, 2949799], [2951805, 2951930], [2952920, 2953100], [2954870, 2955006], [2956923, 2957019], [2958124, 2958221], [2959005, 2959246], [2962267, 2962394], [2962765, 2962967], [2963866, 2963999], [2966372, 2966425], [2968231, 2968332], [2969625, 2969708], [2972168, 2972220], [2974086, 2974263], [2976670, 2976868], [2977540, 2977666], [2978312, 2978465], [2979382, 2979562], [2983845, 2984171], [2985452, 2985590], [2987208, 2987421], [2998133, 2998140]]
Promoter
Chrom Start End Description
chr7 3083452 3083461 CAGE_peak_5_at_CARD11_5end
chr7 3083472 3083508 CAGE_peak_1_at_CARD11_5end
chr7 3083516 3083532 CAGE_peak_2_at_CARD11_5end
chr7 3083542 3083561 CAGE_peak_3_at_CARD11_5end
chr7 3083573 3083584 CAGE_peak_4_at_CARD11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I002893 2893630 2895200 1.21 [{'connected_gene': 'EIF3B', 'score': 12.1}, {'connected_gene': 'CHST12', 'score': 9.93}, {'connected_gene': 'CARD11', 'score': 3.07}, {'connected_gene': 'GC07P002892', 'score': 0.77}, {'connected_gene': 'GC07M002896', 'score': 0.29}]
chr7 GH07I002950 2950376 2951790 1.07 [{'connected_gene': 'CARD11', 'score': 18.28}, {'connected_gene': 'LFNG', 'score': 5.84}, {'connected_gene': 'PIR49804', 'score': 0.44}, {'connected_gene': 'GC07P002959', 'score': 0.44}]
chr7 GH07I002952 2952794 2957720 1.65 [{'connected_gene': 'CARD11', 'score': 17.61}, {'connected_gene': 'LFNG', 'score': 4.96}, {'connected_gene': 'GC07P002959', 'score': 0.77}, {'connected_gene': 'PIR49804', 'score': 0.39}]
chr7 GH07I002934 2934187 2934401 0.63 [{'connected_gene': 'CARD11', 'score': 11.27}, {'connected_gene': 'MRM2', 'score': 6.0}, {'connected_gene': 'LOC101927256', 'score': 0.44}, {'connected_gene': 'GC07M002896', 'score': 0.44}]
chr7 GH07I003041 3041086 3044522 1.76 [{'connected_gene': 'CARD11', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 5.2}, {'connected_gene': 'GC07M003028', 'score': 0.39}]
chr7 GH07I003203 3203286 3204377 0.2 [{'connected_gene': 'CARD11', 'score': 6.63}, {'connected_gene': 'SDK1', 'score': 5.89}, {'connected_gene': 'GC07P003209', 'score': 0.77}, {'connected_gene': 'PIR47731', 'score': 0.77}, {'connected_gene': 'ENSG00000231892', 'score': 0.44}]
chr7 GH07I003193 3193435 3195916 0.97 [{'connected_gene': 'CARD11', 'score': 19.63}, {'connected_gene': 'BRAT1', 'score': 15.11}, {'connected_gene': 'CHST12', 'score': 11.91}, {'connected_gene': 'EIF3B', 'score': 11.64}, {'connected_gene': 'LOC105375132', 'score': 10.55}, {'connected_gene': 'SDK1', 'score': 10.55}, {'connected_gene': 'LOC100129603', 'score': 5.47}, {'connected_gene': 'NUDT1', 'score': 4.46}, {'connected_gene': 'ENSG00000231892', 'score': 0.77}, {'connected_gene': 'GC07P003179', 'score': 0.39}]
chr7 GH07I003107 3107344 3107739 0.42 [{'connected_gene': 'CARD11', 'score': 7.76}, {'connected_gene': 'LOC105375130', 'score': 0.44}, {'connected_gene': 'GC07M003127', 'score': 0.31}]
chr7 GH07I003111 3111701 3113303 0.51 [{'connected_gene': 'CARD11', 'score': 4.87}, {'connected_gene': 'LOC105375130', 'score': 0.39}, {'connected_gene': 'GC07M003127', 'score': 0.34}]
chr7 GH07I003106 3106347 3106516 0.58 [{'connected_gene': 'CARD11', 'score': 11.73}, {'connected_gene': 'LOC105375130', 'score': 0.44}, {'connected_gene': 'GC07M003127', 'score': 0.31}]
chr7 GH07I003009 3009962 3010424 0.2 [{'connected_gene': 'CARD11', 'score': 12.76}, {'connected_gene': 'LOC101927256', 'score': 11.36}, {'connected_gene': 'SDK1', 'score': 9.74}, {'connected_gene': 'LOC105375132', 'score': 9.74}, {'connected_gene': 'RN7SKP130', 'score': 0.39}, {'connected_gene': 'GC07M003028', 'score': 0.34}]
chr7 GH07I003155 3155008 3155157 0.65 [{'connected_gene': 'CARD11', 'score': 11.66}, {'connected_gene': 'LOC101927256', 'score': 11.53}, {'connected_gene': 'SDK1', 'score': 10.45}, {'connected_gene': 'LOC105375132', 'score': 10.45}, {'connected_gene': 'GC07P003136', 'score': 0.37}, {'connected_gene': 'LOC100129603', 'score': 0.37}]
chr7 GH07I003066 3066687 3071542 0.97 [{'connected_gene': 'CARD11', 'score': 16.01}, {'connected_gene': 'LOC101927256', 'score': 10.92}, {'connected_gene': 'BRAT1', 'score': 10.34}, {'connected_gene': 'CHST12', 'score': 10.26}, {'connected_gene': 'GC07M003056', 'score': 0.39}, {'connected_gene': 'ENSG00000228334', 'score': 0.37}]
chr7 GH07I003090 3090288 3096841 1.22 [{'connected_gene': 'CARD11', 'score': 13.09}, {'connected_gene': 'LOC101927256', 'score': 11.27}, {'connected_gene': 'LOC105375130', 'score': 0.44}, {'connected_gene': 'ENSG00000228334', 'score': 0.44}, {'connected_gene': 'PIR35323', 'score': 0.44}]
chr7 GH07I003089 3089605 3089891 0.66 [{'connected_gene': 'CARD11', 'score': 11.83}, {'connected_gene': 'LOC101927256', 'score': 11.27}, {'connected_gene': 'ENSG00000228334', 'score': 0.77}, {'connected_gene': 'PIR35323', 'score': 0.44}]
chr7 GH07I003065 3065329 3066457 0.97 [{'connected_gene': 'CARD11', 'score': 12.17}, {'connected_gene': 'GC07M003056', 'score': 0.44}, {'connected_gene': 'ENSG00000228334', 'score': 0.34}]
chr7 GH07I002698 2698762 2699600 1.43 [{'connected_gene': 'TTYH3', 'score': 13.44}, {'connected_gene': 'AMZ1', 'score': 5.76}, {'connected_gene': 'CARD11', 'score': 2.11}, {'connected_gene': 'LFNG', 'score': 1.56}, {'connected_gene': 'GC07P002723', 'score': 0.34}]
chr7 GH07I002870 2870007 2871336 0.94 [{'connected_gene': 'GNA12', 'score': 550.77}, {'connected_gene': 'SDK1', 'score': 10.2}, {'connected_gene': 'LOC105375132', 'score': 10.2}, {'connected_gene': 'CARD11', 'score': 10.17}, {'connected_gene': 'GC07P002880', 'score': 0.44}]
chr7 GH07I002873 2873154 2874744 1.03 [{'connected_gene': 'GNA12', 'score': 15.88}, {'connected_gene': 'BRAT1', 'score': 11.69}, {'connected_gene': 'SDK1', 'score': 10.31}, {'connected_gene': 'LOC105375132', 'score': 10.31}, {'connected_gene': 'CARD11', 'score': 10.18}, {'connected_gene': 'GC07P002880', 'score': 0.44}]
chr7 GH07I003186 3186838 3190303 0.38 [{'connected_gene': 'SDK1', 'score': 10.54}, {'connected_gene': 'LOC105375132', 'score': 10.54}, {'connected_gene': 'CARD11', 'score': 9.83}, {'connected_gene': 'LOC100129603', 'score': 8.6}, {'connected_gene': 'MRM2', 'score': 5.46}, {'connected_gene': 'GC07P003179', 'score': 0.44}, {'connected_gene': 'ENSG00000231892', 'score': 0.44}]
chr7 GH07I002708 2708856 2711506 1.61 [{'connected_gene': 'AMZ1', 'score': 24.0}, {'connected_gene': 'TTYH3', 'score': 13.48}, {'connected_gene': 'CARD11', 'score': 10.9}, {'connected_gene': 'GNA12', 'score': 9.17}, {'connected_gene': 'LFNG', 'score': 3.66}, {'connected_gene': 'GC07P002723', 'score': 0.39}]
chr7 GH07I002998 2998852 2999800 0.77 [{'connected_gene': 'RN7SKP130', 'score': 550.77}, {'connected_gene': 'CARD11', 'score': 11.8}, {'connected_gene': 'GC07M003028', 'score': 0.29}]
chr7 GH07I003100 3100693 3101624 0.31 [{'connected_gene': 'LOC105375130', 'score': 550.77}, {'connected_gene': 'CARD11', 'score': 10.98}, {'connected_gene': 'PIR35323', 'score': 0.77}]
chr7 GH07I003149 3149758 3150786 0.2 [{'connected_gene': 'LOC101927256', 'score': 11.5}, {'connected_gene': 'CARD11', 'score': 11.36}, {'connected_gene': 'SDK1', 'score': 10.27}, {'connected_gene': 'LOC105375132', 'score': 10.27}, {'connected_gene': 'GC07P003136', 'score': 0.39}, {'connected_gene': 'LOC100129603', 'score': 0.34}]
chr7 GH07I002921 2921927 2922076 0.46 [{'connected_gene': 'LOC101927256', 'score': 11.77}, {'connected_gene': 'CARD11', 'score': 10.89}, {'connected_gene': 'GC07M002896', 'score': 0.44}, {'connected_gene': 'GC07P002892', 'score': 0.31}]
chr7 GH07I002941 2941327 2941476 0.4 [{'connected_gene': 'LOC101927256', 'score': 0.77}, {'connected_gene': 'GC07M002896', 'score': 0.39}, {'connected_gene': 'CARD11', 'score': 0.15}]
chr7 GH07I003158 3158112 3159032 0.31 [{'connected_gene': 'LOC100129603', 'score': 12.1}, {'connected_gene': 'CARD11', 'score': 11.66}, {'connected_gene': 'LOC101927256', 'score': 11.53}, {'connected_gene': 'SDK1', 'score': 10.45}, {'connected_gene': 'LOC105375132', 'score': 10.45}, {'connected_gene': 'GC07P003136', 'score': 0.34}]
chr7 GH07I003027 3027114 3029321 0.84 [{'connected_gene': 'GC07M003028', 'score': 0.77}, {'connected_gene': 'CARD11', 'score': 0.37}, {'connected_gene': 'RN7SKP130', 'score': 0.31}]
chr7 GH07I002982 2982101 2985140 0.81 [{'connected_gene': 'GC07M002981', 'score': 550.77}, {'connected_gene': 'CARD11', 'score': 15.54}, {'connected_gene': 'LOC101927256', 'score': 11.28}, {'connected_gene': 'MRM2', 'score': 4.86}, {'connected_gene': 'LFNG', 'score': 1.33}, {'connected_gene': 'RN7SKP130', 'score': 0.37}]
chr7 GH07I003181 3181022 3182298 0.92 [{'connected_gene': 'GC07P003179', 'score': 550.77}, {'connected_gene': 'CARD11', 'score': 10.46}, {'connected_gene': 'LOC100129603', 'score': 9.33}, {'connected_gene': 'SDK1', 'score': 4.96}, {'connected_gene': 'ENSG00000231892', 'score': 0.37}]
chr7 GH07I002958 2958522 2960256 0.68 [{'connected_gene': 'GC07P002959', 'score': 550.77}, {'connected_gene': 'CARD11', 'score': 11.38}, {'connected_gene': 'PIR49804', 'score': 0.37}]
chr7 GH07I002971 2971996 2972877 0.86 [{'connected_gene': 'GC07M002960', 'score': 0.44}, {'connected_gene': 'GC07M002981', 'score': 0.39}, {'connected_gene': 'CARD11', 'score': 0.19}]
chr7 GH07I002977 2977177 2981699 1.14 [{'connected_gene': 'GC07M002981', 'score': 0.77}, {'connected_gene': 'GC07M002960', 'score': 0.39}, {'connected_gene': 'CARD11', 'score': 0.21}]
chr7 GH07I002961 2961728 2967007 0.76 [{'connected_gene': 'GC07M002960', 'score': 550.77}, {'connected_gene': 'LOC101927256', 'score': 12.19}, {'connected_gene': 'CARD11', 'score': 11.95}, {'connected_gene': 'SDK1', 'score': 9.64}, {'connected_gene': 'LOC105375132', 'score': 9.64}, {'connected_gene': 'GC07P002959', 'score': 0.77}, {'connected_gene': 'GC07M002961', 'score': 0.77}]

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