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
ENST00000312371 [[2719155, 2719305], [2739867, 2740389], [2742355, 2742523], [2748221, 2748350], [2748708, 2748878], [2749273, 2749450], [2751963, 2756163]] [[2740085, 2740389], [2742355, 2742523], [2748221, 2748350], [2748708, 2748878], [2749273, 2749450], [2751963, 2752512]]
ENST00000407112 [[2727835, 2727930], [2739867, 2740389], [2742355, 2742523], [2748221, 2748350], [2749273, 2749450], [2751963, 2752734]] [[2740085, 2740389], [2742355, 2742523], [2748221, 2748350], [2749273, 2749450], [2751963, 2752079]]
ENST00000489665 [[2742163, 2742239], [2742355, 2742523], [2748221, 2748350], [2749273, 2749450], [2804345, 2804759]] None
ENST00000485540 [[2741654, 2742078], [2742355, 2742523], [2748221, 2748350], [2748708, 2748823]] None
ENST00000480560 [[2742109, 2742523], [2748221, 2748350], [2748708, 2748748]] None
ENST00000433945 [[2804241, 2804573], [2814922, 2815134]] None
NM_133463 [[2719155, 2719305], [2739867, 2740389], [2742355, 2742523], [2748221, 2748350], [2748708, 2748878], [2749273, 2749450], [2751963, 2756163]] [[2740085, 2740389], [2742355, 2742523], [2748221, 2748350], [2748708, 2748878], [2749273, 2749450], [2751963, 2752512]]
NM_001284355 [[2727835, 2727930], [2739867, 2740389], [2742355, 2742523], [2748221, 2748350], [2749273, 2749450], [2751963, 2756163]] [[2740085, 2740389], [2742355, 2742523], [2748221, 2748350], [2749273, 2749450], [2751963, 2752079]]
NM_001321766 [[2727835, 2727930], [2739867, 2740389], [2742355, 2742523], [2748221, 2748350], [2748708, 2748878], [2749273, 2749450], [2804345, 2804759]] [[2740085, 2740389], [2742355, 2742523], [2748221, 2748350], [2748708, 2748878], [2749273, 2749450], [2804345, 2804390]]
Promoter
Chrom Start End Description
chr7 2727817 2727881 CAGE_peak_1_at_AMZ1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I002626 2626276 2642973 2.79 [{'connected_gene': 'TTYH3', 'score': 614.83}, {'connected_gene': 'LFNG', 'score': 16.06}, {'connected_gene': 'AMZ1', 'score': 12.61}, {'connected_gene': 'CHST12', 'score': 12.3}, {'connected_gene': 'BRAT1', 'score': 11.56}, {'connected_gene': 'EIF3B', 'score': 10.27}, {'connected_gene': 'IQCE', 'score': 6.61}, {'connected_gene': 'SNX8', 'score': 2.69}]
chr7 GH07I002606 2606744 2610361 1.27 [{'connected_gene': 'TTYH3', 'score': 29.52}, {'connected_gene': 'BRAT1', 'score': 23.92}, {'connected_gene': 'AMZ1', 'score': 12.33}, {'connected_gene': 'CHST12', 'score': 11.95}, {'connected_gene': 'IQCE', 'score': 8.82}, {'connected_gene': 'LFNG', 'score': 3.08}, {'connected_gene': 'SNX8', 'score': 2.28}, {'connected_gene': 'GC07P002574', 'score': 0.29}]
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 GH07I002619 2619835 2625654 1.64 [{'connected_gene': 'TTYH3', 'score': 16.66}, {'connected_gene': 'AMZ1', 'score': 12.31}, {'connected_gene': 'IQCE', 'score': 11.79}, {'connected_gene': 'BRAT1', 'score': 11.78}, {'connected_gene': 'GC07P002574', 'score': 0.25}]
chr7 GH07I002571 2571452 2573016 0.71 [{'connected_gene': 'TTYH3', 'score': 11.58}, {'connected_gene': 'AMZ1', 'score': 11.51}, {'connected_gene': 'IQCE', 'score': 9.48}, {'connected_gene': 'GC07P002574', 'score': 0.77}]
chr7 GH07I002644 2643407 2643556 0.8 [{'connected_gene': 'TTYH3', 'score': 0.39}, {'connected_gene': 'AMZ1', 'score': 0.28}]
chr7 GH07I002663 2662465 2663841 1.11 [{'connected_gene': 'TTYH3', 'score': 5.16}, {'connected_gene': 'AMZ1', 'score': 0.37}]
chr7 GH07I002643 2643818 2647341 1.17 [{'connected_gene': 'TTYH3', 'score': 0.39}, {'connected_gene': 'AMZ1', 'score': 0.29}]
chr7 GH07I002647 2647487 2647556 0.63 [{'connected_gene': 'TTYH3', 'score': 0.37}, {'connected_gene': 'AMZ1', 'score': 0.29}]
chr7 GH07I002451 2451151 2452975 1.09 [{'connected_gene': 'CHST12', 'score': 12.25}, {'connected_gene': 'BRAT1', 'score': 12.22}, {'connected_gene': 'IQCE', 'score': 12.22}, {'connected_gene': 'LOC645357', 'score': 12.2}, {'connected_gene': 'EIF3B', 'score': 12.16}, {'connected_gene': 'SNX8', 'score': 11.81}, {'connected_gene': 'TTYH3', 'score': 11.76}, {'connected_gene': 'AMZ1', 'score': 11.74}, {'connected_gene': 'LFNG', 'score': 7.44}, {'connected_gene': 'GRIFIN', 'score': 0.34}, {'connected_gene': 'GC07P002406', 'score': 0.25}]
chr7 GH07I002489 2489500 2490778 0.2 [{'connected_gene': 'LFNG', 'score': 22.74}, {'connected_gene': 'TTYH3', 'score': 11.76}, {'connected_gene': 'AMZ1', 'score': 11.17}, {'connected_gene': 'GRIFIN', 'score': 0.39}]
chr7 GH07I002487 2487498 2489041 0.66 [{'connected_gene': 'LFNG', 'score': 22.91}, {'connected_gene': 'TTYH3', 'score': 11.76}, {'connected_gene': 'AMZ1', 'score': 11.67}, {'connected_gene': 'BRAT1', 'score': 11.31}, {'connected_gene': 'GRIFIN', 'score': 0.39}]
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 GH07I002323 2323327 2323628 0.33 [{'connected_gene': 'SNX8', 'score': 14.29}, {'connected_gene': 'MRM2', 'score': 12.19}, {'connected_gene': 'NUDT1', 'score': 12.19}, {'connected_gene': 'MAD1L1', 'score': 12.18}, {'connected_gene': 'AMZ1', 'score': 1.62}, {'connected_gene': 'GC07P002305', 'score': 0.37}, {'connected_gene': 'GC07M002345', 'score': 0.34}]
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 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 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 GH07I002657 2657627 2657711 0.45 [{'connected_gene': 'IQCE', 'score': 1.52}, {'connected_gene': 'AMZ1', 'score': 0.34}, {'connected_gene': 'TTYH3', 'score': 0.31}]
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 GH07I002662 2662118 2662236 0.52 [{'connected_gene': 'AMZ1', 'score': 0.37}, {'connected_gene': 'TTYH3', 'score': 0.29}]
chr7 GH07I002661 2661327 2661476 0.38 [{'connected_gene': 'AMZ1', 'score': 0.37}, {'connected_gene': 'TTYH3', 'score': 0.31}]
chr7 GH07I002660 2660129 2661242 0.63 [{'connected_gene': 'AMZ1', 'score': 0.37}, {'connected_gene': 'TTYH3', 'score': 0.31}]
chr7 GH07I002668 2668527 2668676 0.43 [{'connected_gene': 'AMZ1', 'score': 0.39}, {'connected_gene': 'TTYH3', 'score': 0.28}]
chr7 GH07I002671 2671007 2671196 0.87 [{'connected_gene': 'AMZ1', 'score': 0.44}, {'connected_gene': 'TTYH3', 'score': 0.28}]
chr7 GH07I002651 2651870 2653111 0.56 [{'connected_gene': 'AMZ1', 'score': 5.37}, {'connected_gene': 'TTYH3', 'score': 0.34}]
chr7 GH07I002701 2701847 2702458 0.51 [{'connected_gene': 'AMZ1', 'score': 13.74}, {'connected_gene': 'TTYH3', 'score': 13.59}, {'connected_gene': 'GC07P002723', 'score': 0.34}]
chr7 GH07I002678 2678230 2679957 0.99 [{'connected_gene': 'AMZ1', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 5.58}, {'connected_gene': 'TTYH3', 'score': 0.25}]
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 GH07I002686 2686847 2689800 1.74 [{'connected_gene': 'AMZ1', 'score': 564.29}, {'connected_gene': 'BRAT1', 'score': 12.62}, {'connected_gene': 'EIF3B', 'score': 10.96}, {'connected_gene': 'GC07P002723', 'score': 0.29}]
chr7 GH07I002616 2616336 2619605 1.34 [{'connected_gene': 'AMZ1', 'score': 12.3}, {'connected_gene': 'BRAT1', 'score': 10.83}, {'connected_gene': 'TTYH3', 'score': 5.1}, {'connected_gene': 'IQCE', 'score': 1.62}, {'connected_gene': 'GC07P002574', 'score': 0.26}]
chr7 GH07I002610 2610441 2615237 1.19 [{'connected_gene': 'AMZ1', 'score': 12.34}, {'connected_gene': 'BRAT1', 'score': 11.59}, {'connected_gene': 'IQCE', 'score': 6.54}, {'connected_gene': 'TTYH3', 'score': 5.34}, {'connected_gene': 'GC07P002574', 'score': 0.28}]
chr7 GH07I002680 2680987 2681156 0.89 [{'connected_gene': 'AMZ1', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 10.51}, {'connected_gene': 'GC07P002723', 'score': 0.26}]
chr7 GH07I002690 2690893 2692189 0.63 [{'connected_gene': 'AMZ1', 'score': 9.33}, {'connected_gene': 'GC07P002723', 'score': 0.29}]
chr7 GH07I002695 2695957 2696016 0.5 [{'connected_gene': 'AMZ1', 'score': 550.37}, {'connected_gene': 'GC07P002723', 'score': 0.31}]
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 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}]
chr7 GH07I002719 2719027 2719216 0.77 [{'connected_gene': 'GC07P002723', 'score': 0.77}, {'connected_gene': 'AMZ1', 'score': 0.28}]

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