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
ENST00000275364 [[2767745, 2771384], [2773084, 2773135], [2834561, 2834777], [2883486, 2883958]] [[2770814, 2771384], [2773084, 2773135], [2834561, 2834777], [2883486, 2883795]]
ENST00000544127 [[2770447, 2771384], [2834561, 2834777], [2883486, 2883650]] [[2770814, 2771384], [2834561, 2834777], [2883486, 2883567]]
ENST00000491117 [[2768194, 2771384], [2773084, 2773135], [2802709, 2802843]] None
ENST00000407904 [[2768194, 2771384], [2773084, 2773135], [2834561, 2834777], [2853945, 2854023], [2854510, 2854893]] [[2770814, 2771384], [2773084, 2773135], [2834561, 2834777], [2853945, 2854023], [2854510, 2854564]]
ENST00000407653 [[2768199, 2771384], [2773084, 2773135], [2802225, 2802774]] [[2770814, 2771384], [2773084, 2773135], [2802225, 2802522]]
ENST00000396960 [[2768199, 2771384], [2773084, 2773135], [2802225, 2802774]] [[2770814, 2771384], [2773084, 2773135], [2802225, 2802306]]
ENST00000496740 [[2769457, 2771384], [2773084, 2773135], [2801803, 2802027], [2802713, 2802961]] None
ENST00000471281 [[2770656, 2771384], [2773084, 2773135], [2834353, 2834779]] None
ENST00000485329 [[2770984, 2771384], [2773084, 2773135], [2799975, 2800086]] None
ENST00000447791 [[2834600, 2834777], [2854510, 2854892]] [[2834600, 2834777], [2854510, 2854564]]
NM_007353 [[2767738, 2771384], [2773084, 2773135], [2834561, 2834777], [2883486, 2883959]] [[2770814, 2771384], [2773084, 2773135], [2834561, 2834777], [2883486, 2883795]]
NM_001293092 [[2767738, 2771384], [2834561, 2834777], [2883486, 2883959]] [[2770814, 2771384], [2834561, 2834777], [2883486, 2883795]]
NM_001282440 [[2767738, 2771384], [2773084, 2773135], [2802225, 2802774]] [[2770814, 2771384], [2773084, 2773135], [2802225, 2802522]]
NM_001282441 [[2767738, 2771384], [2773084, 2773135], [2834561, 2834777], [2853945, 2854023], [2854510, 2854893]] [[2770814, 2771384], [2773084, 2773135], [2834561, 2834777], [2853945, 2854023], [2854510, 2854564]]
Promoter
Chrom Start End Description
chr7 2854860 2854866 CAGE_peak_22_at_GNA12_5end
chr7 2883766 2883775 CAGE_peak_7_at_GNA12_5end
chr7 2883872 2883883 CAGE_peak_2_at_GNA12_5end
chr7 2883928 2883993 CAGE_peak_1_at_GNA12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I002799 2799316 2799623 0.96 [{'connected_gene': 'LFNG', 'score': 6.29}, {'connected_gene': 'SNX8', 'score': 3.14}, {'connected_gene': 'GNA12', 'score': 1.67}, {'connected_gene': 'PIR32151', 'score': 0.34}, {'connected_gene': 'GC07M002729', 'score': 0.19}]
chr7 GH07I002753 2753979 2756188 0.76 [{'connected_gene': 'LFNG', 'score': 5.71}, {'connected_gene': 'GNA12', 'score': 2.1}, {'connected_gene': 'GC07M002729', 'score': 0.31}, {'connected_gene': 'PIR32151', 'score': 0.21}, {'connected_gene': 'AMZ1', 'score': 0.18}]
chr7 GH07I002856 2856865 2858039 1.01 [{'connected_gene': 'GNA12', 'score': 21.08}, {'connected_gene': 'EIF3B', 'score': 12.1}, {'connected_gene': 'CHST12', 'score': 9.93}, {'connected_gene': 'LOC100131264', 'score': 0.34}]
chr7 GH07I002841 2841419 2846019 2.18 [{'connected_gene': 'GNA12', 'score': 575.0}, {'connected_gene': 'EIF3B', 'score': 23.11}, {'connected_gene': 'BRAT1', 'score': 10.77}, {'connected_gene': 'LOC100131264', 'score': 0.44}]
chr7 GH07I002862 2862418 2865399 1.74 [{'connected_gene': 'GNA12', 'score': 19.08}, {'connected_gene': 'LFNG', 'score': 10.31}, {'connected_gene': 'MRM2', 'score': 4.32}, {'connected_gene': 'TTYH3', 'score': 1.29}, {'connected_gene': 'LOC100131264', 'score': 0.31}]
chr7 GH07I002792 2792171 2793600 1.1 [{'connected_gene': 'GNA12', 'score': 20.11}, {'connected_gene': 'LFNG', 'score': 9.04}, {'connected_gene': 'SNX8', 'score': 2.44}, {'connected_gene': 'PIR32151', 'score': 0.31}, {'connected_gene': 'GC07M002729', 'score': 0.21}]
chr7 GH07I002795 2795172 2797793 1.06 [{'connected_gene': 'GNA12', 'score': 22.03}, {'connected_gene': 'LFNG', 'score': 4.28}, {'connected_gene': 'SNX8', 'score': 1.21}, {'connected_gene': 'PIR32151', 'score': 0.34}, {'connected_gene': 'GC07M002729', 'score': 0.2}]
chr7 GH07I002772 2772407 2774299 1.46 [{'connected_gene': 'GNA12', 'score': 23.48}, {'connected_gene': 'LFNG', 'score': 10.74}, {'connected_gene': 'AMZ1', 'score': 7.16}, {'connected_gene': 'SNX8', 'score': 1.46}, {'connected_gene': 'GC07M002729', 'score': 0.26}, {'connected_gene': 'PIR32151', 'score': 0.25}]
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 GH07I002756 2756258 2764928 2.28 [{'connected_gene': 'GNA12', 'score': 579.59}, {'connected_gene': 'BRAT1', 'score': 40.18}, {'connected_gene': 'CHST12', 'score': 29.98}, {'connected_gene': 'EIF3B', 'score': 20.37}, {'connected_gene': 'AMZ1', 'score': 18.85}, {'connected_gene': 'LFNG', 'score': 11.75}, {'connected_gene': 'TTYH3', 'score': 11.17}, {'connected_gene': 'SNX8', 'score': 1.76}, {'connected_gene': 'GC07M002729', 'score': 0.29}, {'connected_gene': 'PIR32151', 'score': 0.22}]
chr7 GH07I002727 2727716 2736079 1.61 [{'connected_gene': 'GNA12', 'score': 29.62}, {'connected_gene': 'BRAT1', 'score': 23.12}, {'connected_gene': 'CHST12', 'score': 10.85}, {'connected_gene': 'AMZ1', 'score': 7.25}, {'connected_gene': 'LFNG', 'score': 3.79}, {'connected_gene': 'SNX8', 'score': 1.49}, {'connected_gene': 'GC07M002729', 'score': 0.77}, {'connected_gene': 'PIR32151', 'score': 0.17}]
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 GH07I002818 2818164 2826928 1.64 [{'connected_gene': 'GNA12', 'score': 28.37}, {'connected_gene': 'BRAT1', 'score': 16.54}, {'connected_gene': 'LOC101927256', 'score': 10.45}, {'connected_gene': 'LFNG', 'score': 7.25}, {'connected_gene': 'NUDT1', 'score': 5.1}, {'connected_gene': 'PIR32151', 'score': 0.77}, {'connected_gene': 'LOC100131264', 'score': 0.39}]
chr7 GH07I002800 2800399 2806834 1.58 [{'connected_gene': 'GNA12', 'score': 22.31}, {'connected_gene': 'AMZ1', 'score': 7.26}, {'connected_gene': 'PIR32151', 'score': 0.37}, {'connected_gene': 'GC07M002729', 'score': 0.19}]
chr7 GH07I002742 2742219 2742840 0.2 [{'connected_gene': 'GNA12', 'score': 21.98}, {'connected_gene': 'AMZ1', 'score': 6.19}, {'connected_gene': 'GC07M002729', 'score': 0.39}, {'connected_gene': 'PIR32151', 'score': 0.18}]
chr7 GH07I002775 2775475 2776944 0.2 [{'connected_gene': 'GNA12', 'score': 26.64}, {'connected_gene': 'PIR32151', 'score': 0.26}, {'connected_gene': 'GC07M002729', 'score': 0.25}, {'connected_gene': 'AMZ1', 'score': 0.15}]
chr7 GH07I002715 2715401 2719014 1.37 [{'connected_gene': 'GNA12', 'score': 21.42}, {'connected_gene': 'AMZ1', 'score': 8.15}, {'connected_gene': 'GC07P002723', 'score': 0.44}]
chr7 GH07I002737 2737417 2739226 0.83 [{'connected_gene': 'GNA12', 'score': 22.37}, {'connected_gene': 'GC07M002729', 'score': 0.44}, {'connected_gene': 'AMZ1', 'score': 0.22}, {'connected_gene': 'PIR32151', 'score': 0.18}]
chr7 GH07I002771 2771201 2772050 1.11 [{'connected_gene': 'GNA12', 'score': 16.85}, {'connected_gene': 'GC07M002729', 'score': 0.26}, {'connected_gene': 'PIR32151', 'score': 0.25}, {'connected_gene': 'AMZ1', 'score': 0.16}]
chr7 GH07I002750 2750080 2751367 0.69 [{'connected_gene': 'GNA12', 'score': 22.19}, {'connected_gene': 'GC07M002729', 'score': 0.34}, {'connected_gene': 'PIR32151', 'score': 0.2}, {'connected_gene': 'AMZ1', 'score': 0.19}]
chr7 GH07I002739 2739977 2740680 0.31 [{'connected_gene': 'GNA12', 'score': 17.46}, {'connected_gene': 'GC07M002729', 'score': 0.39}, {'connected_gene': 'AMZ1', 'score': 0.21}, {'connected_gene': 'PIR32151', 'score': 0.18}]
chr7 GH07I002720 2720544 2721504 1.02 [{'connected_gene': 'GNA12', 'score': 21.71}, {'connected_gene': 'AMZ1', 'score': 8.18}, {'connected_gene': 'GC07P002723', 'score': 0.77}]
chr7 GH07I002860 2860047 2861285 0.92 [{'connected_gene': 'GNA12', 'score': 19.0}, {'connected_gene': 'LOC100131264', 'score': 0.31}]
chr7 GH07I002830 2830485 2833666 0.88 [{'connected_gene': 'GNA12', 'score': 25.92}, {'connected_gene': 'LOC100131264', 'score': 0.77}, {'connected_gene': 'PIR32151', 'score': 0.39}]
chr7 GH07I002859 2859394 2860002 0.52 [{'connected_gene': 'GNA12', 'score': 21.5}, {'connected_gene': 'LOC100131264', 'score': 0.34}]
chr7 GH07I002853 2853207 2853356 0.4 [{'connected_gene': 'GNA12', 'score': 19.99}, {'connected_gene': 'LOC100131264', 'score': 0.37}]
chr7 GH07I002838 2838908 2839544 0.72 [{'connected_gene': 'GNA12', 'score': 25.71}, {'connected_gene': 'LOC100131264', 'score': 0.77}]
chr7 GH07I002837 2837290 2838599 0.96 [{'connected_gene': 'GNA12', 'score': 25.77}, {'connected_gene': 'LOC100131264', 'score': 0.77}]
chr7 GH07I002776 2776956 2777274 0.2 [{'connected_gene': 'GNA12', 'score': 22.61}, {'connected_gene': 'PIR32151', 'score': 0.26}, {'connected_gene': 'GC07M002729', 'score': 0.25}]
chr7 GH07I002786 2786901 2788537 0.85 [{'connected_gene': 'GNA12', 'score': 17.78}, {'connected_gene': 'PIR32151', 'score': 0.29}, {'connected_gene': 'GC07M002729', 'score': 0.22}]
chr7 GH07I002780 2780813 2782859 0.2 [{'connected_gene': 'GNA12', 'score': 29.16}, {'connected_gene': 'PIR32151', 'score': 0.28}, {'connected_gene': 'GC07M002729', 'score': 0.23}]
chr7 GH07I002809 2809959 2816299 1.71 [{'connected_gene': 'GNA12', 'score': 577.22}, {'connected_gene': 'PIR32151', 'score': 0.44}, {'connected_gene': 'GC07M002729', 'score': 0.18}]
chr7 GH07I002784 2784144 2785920 1.07 [{'connected_gene': 'GNA12', 'score': 29.14}, {'connected_gene': 'PIR32151', 'score': 0.29}, {'connected_gene': 'GC07M002729', 'score': 0.22}]
chr7 GH07I002807 2807144 2809361 1.13 [{'connected_gene': 'GNA12', 'score': 21.98}, {'connected_gene': 'PIR32151', 'score': 0.39}, {'connected_gene': 'GC07M002729', 'score': 0.18}]
chr7 GH07I002778 2777350 2777896 0.2 [{'connected_gene': 'GNA12', 'score': 21.93}, {'connected_gene': 'PIR32151', 'score': 0.26}, {'connected_gene': 'GC07M002729', 'score': 0.25}]
chr7 GH07I002875 2875742 2876654 0.52 [{'connected_gene': 'SDK1', 'score': 10.31}, {'connected_gene': 'LOC105375132', 'score': 10.31}, {'connected_gene': 'GNA12', 'score': 4.95}, {'connected_gene': 'GC07P002880', 'score': 0.77}]
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 GH07I002693 2693923 2694401 1.06 [{'connected_gene': 'AMZ1', 'score': 50.46}, {'connected_gene': 'LFNG', 'score': 6.43}, {'connected_gene': 'GNA12', 'score': 2.05}, {'connected_gene': 'SNX8', 'score': 1.4}, {'connected_gene': 'GC07P002723', 'score': 0.31}]
chr7 GH07I002689 2689922 2690163 1.04 [{'connected_gene': 'AMZ1', 'score': 12.69}, {'connected_gene': 'LFNG', 'score': 3.75}, {'connected_gene': 'GNA12', 'score': 1.93}, {'connected_gene': 'GC07P002723', 'score': 0.29}]
chr7 GH07I002713 2713400 2713676 0.96 [{'connected_gene': 'AMZ1', 'score': 8.68}, {'connected_gene': 'GNA12', 'score': 5.03}, {'connected_gene': 'GC07P002723', 'score': 0.44}]
chr7 GH07I002854 2854836 2855652 0.2 [{'connected_gene': 'LOC100131264', 'score': 0.37}, {'connected_gene': 'GNA12', 'score': 0.37}]
chr7 GH07I002839 2839987 2840696 0.2 [{'connected_gene': 'LOC100131264', 'score': 0.77}, {'connected_gene': 'GNA12', 'score': 0.29}]
chr7 GH07I002835 2835093 2835724 0.46 [{'connected_gene': 'LOC100131264', 'score': 550.77}, {'connected_gene': 'GNA12', 'score': 25.91}, {'connected_gene': 'PIR32151', 'score': 0.37}]
chr7 GH07I002851 2851527 2851676 0.56 [{'connected_gene': 'LOC100131264', 'score': 0.37}, {'connected_gene': 'GNA12', 'score': 0.37}]
chr7 GH07I002726 2726303 2726871 0.2 [{'connected_gene': 'PIR39766', 'score': 550.77}, {'connected_gene': 'GNA12', 'score': 22.94}, {'connected_gene': 'AMZ1', 'score': 7.29}, {'connected_gene': 'GC07M002729', 'score': 0.77}]
chr7 GH07I002777 2777904 2778163 0.31 [{'connected_gene': 'PIR32151', 'score': 0.26}, {'connected_gene': 'GC07M002729', 'score': 0.25}, {'connected_gene': 'GNA12', 'score': 0.16}]
chr7 GH07I002779 2778743 2779872 0.58 [{'connected_gene': 'PIR32151', 'score': 0.26}, {'connected_gene': 'GC07M002729', 'score': 0.23}, {'connected_gene': 'GNA12', 'score': 0.16}]
chr7 GH07I002789 2789439 2790326 0.43 [{'connected_gene': 'PIR32151', 'score': 0.31}, {'connected_gene': 'GC07M002729', 'score': 0.21}, {'connected_gene': 'GNA12', 'score': 0.18}]
chr7 GH07I002774 2774387 2774536 0.63 [{'connected_gene': 'PIR32151', 'score': 0.25}, {'connected_gene': 'GC07M002729', 'score': 0.25}, {'connected_gene': 'AMZ1', 'score': 0.16}, {'connected_gene': 'GNA12', 'score': 0.15}]

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