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
ENST00000569304 [[66018391, 66018459], [66046217, 66046273], [66180038, 66180261]] None
ENST00000563580 [[66084784, 66085110], [66143201, 66143295], [66151956, 66152089]] None
ENST00000568850 [[66084784, 66084987], [66143201, 66143295], [66169669, 66169865], [66170099, 66170157]] None
ENST00000564910 [[66161793, 66161963], [66169669, 66169705], [66170149, 66170293], [66172008, 66172089], [66180038, 66180585]] [[66161923, 66161963], [66169669, 66169705], [66170149, 66170293], [66172008, 66172089], [66180038, 66180178]]
ENST00000261890 [[66161795, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172089], [66180038, 66184329]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172089], [66180038, 66180178]]
ENST00000566233 [[66161801, 66161963], [66169669, 66169865], [66170099, 66170293], [66180038, 66180074]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66180038, 66180074]]
ENST00000565075 [[66161828, 66161963], [66169669, 66169865], [66170099, 66170293], [66172062, 66172089], [66180038, 66180197]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66172062, 66172089], [66180038, 66180178]]
ENST00000435304 [[66161829, 66161963], [66169669, 66169865], [66170099, 66170293], [66170368, 66170377], [66180061, 66180090]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66170368, 66170377], [66180061, 66180090]]
ENST00000569896 [[66161878, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172017], [66180061, 66180973]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172017], [66180061, 66180090]]
ENST00000567671 [[66162350, 66162423], [66169669, 66169865], [66170099, 66170293], [66172008, 66172089], [66180038, 66180129]] [[66170220, 66170293], [66172008, 66172089], [66180038, 66180129]]
NM_001206836 [[66161796, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172017], [66180061, 66184329]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172017], [66180061, 66180090]]
NM_004663 [[66161796, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172089], [66180038, 66184329]] [[66161923, 66161963], [66169669, 66169865], [66170099, 66170293], [66172008, 66172089], [66180038, 66180178]]
Promoter
Chrom Start End Description
chr15 66161792 66161796 CAGE_peak_4_at_RAB11A_5end
chr15 66161802 66161866 CAGE_peak_1_at_RAB11A_5end
chr15 66161871 66161893 CAGE_peak_2_at_RAB11A_5end
chr15 66161895 66161913 CAGE_peak_3_at_RAB11A_5end
chr15 66172005 66172044 CAGE_peak_5_at_RAB11A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I065857 65857623 65858534 0.49 [{'connected_gene': 'IGDCC3', 'score': 11.68}, {'connected_gene': 'SNAPC5', 'score': 9.99}, {'connected_gene': 'TRQ-CTG1-4', 'score': 0.39}, {'connected_gene': 'ENSG00000283249', 'score': 0.39}, {'connected_gene': 'LOC105370866', 'score': 0.2}, {'connected_gene': 'RAB11A', 'score': 0.12}]
chr15 GH15I065803 65803624 65807028 1.41 [{'connected_gene': 'SLC24A1', 'score': 16.14}, {'connected_gene': 'DENND4A', 'score': 9.05}, {'connected_gene': 'HNRNPA1P44', 'score': 0.39}, {'connected_gene': 'LOC105370866', 'score': 0.39}, {'connected_gene': 'RAB11A', 'score': 0.18}]
chr15 GH15I065722 65722867 65726079 0.43 [{'connected_gene': 'RAB11A', 'score': 550.77}, {'connected_gene': 'SNORD13E', 'score': 11.49}, {'connected_gene': 'DENND4A', 'score': 9.27}, {'connected_gene': 'HACD3', 'score': 4.65}, {'connected_gene': 'MIR4511', 'score': 0.44}]
chr15 GH15I065884 65884763 65884912 0.65 [{'connected_gene': 'INTS14', 'score': 10.38}, {'connected_gene': 'SLC24A1', 'score': 10.38}, {'connected_gene': 'DIS3L', 'score': 9.71}, {'connected_gene': 'GC15P069445', 'score': 0.44}, {'connected_gene': 'TRQ-CTG1-4', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.1}]
chr15 GH15I065887 65887643 65887812 0.31 [{'connected_gene': 'INTS14', 'score': 10.39}, {'connected_gene': 'SLC24A1', 'score': 10.39}, {'connected_gene': 'DIS3L', 'score': 9.71}, {'connected_gene': 'GC15P069445', 'score': 0.77}, {'connected_gene': 'TRQ-CTG1-4', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.1}]
chr15 GH15I065831 65831377 65835208 1.49 [{'connected_gene': 'INTS14', 'score': 29.29}, {'connected_gene': 'SLC24A1', 'score': 26.76}, {'connected_gene': 'DENND4A', 'score': 25.57}, {'connected_gene': 'ENSG00000260773', 'score': 21.76}, {'connected_gene': 'PDCD7', 'score': 12.64}, {'connected_gene': 'PARP16', 'score': 11.73}, {'connected_gene': 'LOC646358', 'score': 11.68}, {'connected_gene': 'RAB11A', 'score': 11.55}, {'connected_gene': 'HACD3', 'score': 5.26}, {'connected_gene': 'IGDCC4', 'score': 4.81}, {'connected_gene': 'ENSG00000283249', 'score': 0.39}, {'connected_gene': 'HNRNPA1P44', 'score': 0.37}, {'connected_gene': 'LOC105370866', 'score': 0.26}]
chr15 GH15I065772 65772740 65774367 1.02 [{'connected_gene': 'LOC646358', 'score': 562.24}, {'connected_gene': 'SLC24A1', 'score': 23.14}, {'connected_gene': 'ENSG00000260773', 'score': 21.75}, {'connected_gene': 'INTS14', 'score': 18.8}, {'connected_gene': 'DENND4A', 'score': 16.88}, {'connected_gene': 'PDCD7', 'score': 12.65}, {'connected_gene': 'PARP16', 'score': 11.74}, {'connected_gene': 'IGDCC4', 'score': 6.6}, {'connected_gene': 'RAB11A', 'score': 0.25}]
chr15 GH15I065773 65772142 65772201 0.7 [{'connected_gene': 'LOC646358', 'score': 550.77}, {'connected_gene': 'DENND4A', 'score': 550.34}, {'connected_gene': 'RAB11A', 'score': 0.25}]
chr15 GH15I065862 65862592 65863400 1.1 [{'connected_gene': 'MTFMT', 'score': 17.39}, {'connected_gene': 'PDCD7', 'score': 13.6}, {'connected_gene': 'PARP16', 'score': 12.66}, {'connected_gene': 'IGDCC3', 'score': 11.68}, {'connected_gene': 'DENND4A', 'score': 11.43}, {'connected_gene': 'SNAPC5', 'score': 9.99}, {'connected_gene': 'TRQ-CTG1-4', 'score': 0.44}, {'connected_gene': 'ENSG00000283249', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.12}]
chr15 GH15I065809 65809665 65810684 0.38 [{'connected_gene': 'MTFMT', 'score': 17.39}, {'connected_gene': 'PDCD7', 'score': 13.61}, {'connected_gene': 'PARP16', 'score': 12.66}, {'connected_gene': 'DENND4A', 'score': 6.4}, {'connected_gene': 'HACD3', 'score': 5.55}, {'connected_gene': 'RAB11A', 'score': 4.48}, {'connected_gene': 'HNRNPA1P44', 'score': 0.44}, {'connected_gene': 'LOC105370866', 'score': 0.37}]
chr15 GH15I065800 65800601 65801600 0.89 [{'connected_gene': 'LOC105370866', 'score': 0.44}, {'connected_gene': 'HNRNPA1P44', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.18}]
chr15 GH15I065755 65755339 65757980 0.77 [{'connected_gene': 'DENND4A', 'score': 9.26}, {'connected_gene': 'SLC24A1', 'score': 8.96}, {'connected_gene': 'ENSG00000261544', 'score': 0.39}, {'connected_gene': 'RAB11A', 'score': 0.29}]
chr15 GH15I065827 65827001 65829932 1.38 [{'connected_gene': 'DENND4A', 'score': 19.94}, {'connected_gene': 'RAB11A', 'score': 11.55}, {'connected_gene': 'IGDCC4', 'score': 4.64}, {'connected_gene': 'DPP8', 'score': 3.77}, {'connected_gene': 'DIS3L', 'score': 1.2}, {'connected_gene': 'HNRNPA1P44', 'score': 0.39}, {'connected_gene': 'ENSG00000283249', 'score': 0.37}, {'connected_gene': 'LOC105370866', 'score': 0.28}]
chr15 GH15I065824 65824823 65825783 0.8 [{'connected_gene': 'DENND4A', 'score': 12.6}, {'connected_gene': 'RAB11A', 'score': 11.56}, {'connected_gene': 'SNORD13E', 'score': 10.12}, {'connected_gene': 'IGDCC4', 'score': 4.99}, {'connected_gene': 'HNRNPA1P44', 'score': 0.44}, {'connected_gene': 'ENSG00000283249', 'score': 0.37}, {'connected_gene': 'LOC105370866', 'score': 0.29}]
chr15 GH15I065762 65762974 65763815 0.43 [{'connected_gene': 'DENND4A', 'score': 8.61}, {'connected_gene': 'ENSG00000261544', 'score': 0.77}, {'connected_gene': 'RAB11A', 'score': 0.28}]
chr15 GH15I065761 65761002 65762377 0.84 [{'connected_gene': 'DENND4A', 'score': 8.34}, {'connected_gene': 'INTS14', 'score': 4.17}, {'connected_gene': 'ENSG00000261544', 'score': 0.44}, {'connected_gene': 'RAB11A', 'score': 0.28}]
chr15 GH15I065786 65786283 65793955 2.54 [{'connected_gene': 'DENND4A', 'score': 559.56}, {'connected_gene': 'INTS14', 'score': 26.32}, {'connected_gene': 'PARP16', 'score': 24.79}, {'connected_gene': 'PDCD7', 'score': 20.32}, {'connected_gene': 'SNORD16', 'score': 19.39}, {'connected_gene': 'SLC24A1', 'score': 18.92}, {'connected_gene': 'ENSG00000260773', 'score': 16.84}, {'connected_gene': 'RPL35AP32', 'score': 14.2}, {'connected_gene': 'ZWILCH', 'score': 10.95}, {'connected_gene': 'MTFMT', 'score': 9.95}, {'connected_gene': 'LOC105370866', 'score': 0.77}, {'connected_gene': 'LOC646358', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.21}]
chr15 GH15I065750 65750561 65752271 0.56 [{'connected_gene': 'DENND4A', 'score': 9.02}, {'connected_gene': 'IGDCC4', 'score': 7.16}, {'connected_gene': 'ENSG00000261544', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.31}]
chr15 GH15I065817 65817787 65822478 1.67 [{'connected_gene': 'DENND4A', 'score': 30.38}, {'connected_gene': 'ZWILCH', 'score': 25.43}, {'connected_gene': 'INTS14', 'score': 25.21}, {'connected_gene': 'PDCD7', 'score': 24.35}, {'connected_gene': 'SLC24A1', 'score': 23.24}, {'connected_gene': 'ENSG00000260773', 'score': 20.54}, {'connected_gene': 'TIPIN', 'score': 13.53}, {'connected_gene': 'MTFMT', 'score': 12.34}, {'connected_gene': 'RAB11A', 'score': 11.12}, {'connected_gene': 'SNORD13E', 'score': 11.02}, {'connected_gene': 'PARP16', 'score': 10.05}, {'connected_gene': 'CILP', 'score': 9.76}, {'connected_gene': 'IGDCC4', 'score': 5.77}, {'connected_gene': 'DPP8', 'score': 4.81}, {'connected_gene': 'HNRNPA1P44', 'score': 0.77}, {'connected_gene': 'ENSG00000283249', 'score': 0.34}, {'connected_gene': 'LOC105370866', 'score': 0.31}]
chr15 GH15I065836 65836801 65837000 0.99 [{'connected_gene': 'DENND4A', 'score': 11.23}, {'connected_gene': 'ENSG00000283249', 'score': 0.44}, {'connected_gene': 'HNRNPA1P44', 'score': 0.37}, {'connected_gene': 'LOC105370866', 'score': 0.26}, {'connected_gene': 'RAB11A', 'score': 0.14}]
chr15 GH15I065810 65810890 65811813 0.38 [{'connected_gene': 'DENND4A', 'score': 7.22}, {'connected_gene': 'HNRNPA1P44', 'score': 0.44}, {'connected_gene': 'LOC105370866', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.17}]
chr15 GH15I065807 65807401 65808187 0.78 [{'connected_gene': 'DENND4A', 'score': 7.54}, {'connected_gene': 'HNRNPA1P44', 'score': 0.44}, {'connected_gene': 'LOC105370866', 'score': 0.37}, {'connected_gene': 'RAB11A', 'score': 0.18}]
chr15 GH15I065837 65837202 65838302 1.34 [{'connected_gene': 'DENND4A', 'score': 11.21}, {'connected_gene': 'ENSG00000283249', 'score': 0.44}, {'connected_gene': 'HNRNPA1P44', 'score': 0.34}, {'connected_gene': 'LOC105370866', 'score': 0.25}, {'connected_gene': 'RAB11A', 'score': 0.14}]
chr15 GH15I065776 65776497 65779261 1.15 [{'connected_gene': 'PDCD7', 'score': 13.82}, {'connected_gene': 'RAB11A', 'score': 11.03}, {'connected_gene': 'ENSG00000260773', 'score': 10.21}, {'connected_gene': 'DENND4A', 'score': 9.13}, {'connected_gene': 'SLC24A1', 'score': 8.74}, {'connected_gene': 'LOC646358', 'score': 0.44}]
chr15 GH15I065823 65823723 65824708 1.27 [{'connected_gene': 'PDCD7', 'score': 13.82}, {'connected_gene': 'DENND4A', 'score': 12.6}, {'connected_gene': 'RAB11A', 'score': 11.11}, {'connected_gene': 'ENSG00000260773', 'score': 10.21}, {'connected_gene': 'SNORD13E', 'score': 10.12}, {'connected_gene': 'HNRNPA1P44', 'score': 0.44}, {'connected_gene': 'ENSG00000283249', 'score': 0.37}, {'connected_gene': 'LOC105370866', 'score': 0.29}]
chr15 GH15I065868 65868749 65872411 2.43 [{'connected_gene': 'TRQ-CTG1-4', 'score': 550.77}, {'connected_gene': 'RAB11A', 'score': 550.11}, {'connected_gene': 'PDCD7', 'score': 44.01}, {'connected_gene': 'PARP16', 'score': 31.97}, {'connected_gene': 'SLC24A1', 'score': 22.9}, {'connected_gene': 'INTS14', 'score': 22.31}, {'connected_gene': 'MTFMT', 'score': 17.39}, {'connected_gene': 'UBAP1L', 'score': 14.62}, {'connected_gene': 'TIPIN', 'score': 12.66}, {'connected_gene': 'SNAPC5', 'score': 11.95}, {'connected_gene': 'ENSG00000260773', 'score': 11.73}, {'connected_gene': 'DENND4A', 'score': 11.37}, {'connected_gene': 'ZWILCH', 'score': 10.55}, {'connected_gene': 'ENSG00000261351', 'score': 10.46}, {'connected_gene': 'SPG21', 'score': 10.18}, {'connected_gene': 'HACD3', 'score': 5.36}, {'connected_gene': 'GC15P069445', 'score': 0.34}]
chr15 GH15I065856 65856943 65857112 0.63 [{'connected_gene': 'TRQ-CTG1-4', 'score': 0.39}, {'connected_gene': 'ENSG00000283249', 'score': 0.39}, {'connected_gene': 'LOC105370866', 'score': 0.21}, {'connected_gene': 'RAB11A', 'score': 0.12}]
chr15 GH15I065813 65813239 65815305 0.54 [{'connected_gene': 'ENSG00000260773', 'score': 10.55}, {'connected_gene': 'SLC24A1', 'score': 7.91}, {'connected_gene': 'DENND4A', 'score': 6.63}, {'connected_gene': 'HACD3', 'score': 5.09}, {'connected_gene': 'HNRNPA1P44', 'score': 0.77}, {'connected_gene': 'LOC105370866', 'score': 0.34}, {'connected_gene': 'RAB11A', 'score': 0.17}]
chr15 GH15I065774 65774725 65775484 0.49 [{'connected_gene': 'ENSG00000260773', 'score': 14.83}, {'connected_gene': 'RAB11A', 'score': 11.05}, {'connected_gene': 'INTS14', 'score': 10.76}, {'connected_gene': 'PDCD7', 'score': 10.29}, {'connected_gene': 'MAP2K1', 'score': 9.59}, {'connected_gene': 'SLC24A1', 'score': 8.73}, {'connected_gene': 'DENND4A', 'score': 8.61}, {'connected_gene': 'LOC646358', 'score': 0.77}]
chr15 GH15I065841 65841001 65842000 0.99 [{'connected_gene': 'ENSG00000283249', 'score': 550.77}, {'connected_gene': 'MEGF11', 'score': 5.0}, {'connected_gene': 'HACD3', 'score': 4.32}, {'connected_gene': 'HNRNPA1P44', 'score': 0.34}, {'connected_gene': 'LOC105370866', 'score': 0.25}, {'connected_gene': 'RAB11A', 'score': 0.13}]
chr15 GH15I065795 65795716 65797392 1.09 [{'connected_gene': 'ENSG00000260773', 'score': 14.83}, {'connected_gene': 'INTS14', 'score': 10.75}, {'connected_gene': 'PDCD7', 'score': 10.28}, {'connected_gene': 'DENND4A', 'score': 9.02}, {'connected_gene': 'LOC105370866', 'score': 0.77}, {'connected_gene': 'HNRNPA1P44', 'score': 0.34}, {'connected_gene': 'RAB11A', 'score': 0.19}]
chr15 GH15I065767 65767983 65768132 0.46 [{'connected_gene': 'ENSG00000261544', 'score': 550.77}, {'connected_gene': 'DENND4A', 'score': 11.79}, {'connected_gene': 'SLC24A1', 'score': 8.74}, {'connected_gene': 'LOC646358', 'score': 0.77}, {'connected_gene': 'RAB11A', 'score': 0.26}]
chr15 GH15I065766 65766631 65767571 0.86 [{'connected_gene': 'ENSG00000261544', 'score': 550.77}, {'connected_gene': 'PDCD7', 'score': 13.82}, {'connected_gene': 'DENND4A', 'score': 11.77}, {'connected_gene': 'ENSG00000260773', 'score': 10.21}, {'connected_gene': 'SLC24A1', 'score': 8.95}, {'connected_gene': 'RAB11A', 'score': 0.26}]
chr15 GH15I065839 65839405 65840400 0.89 [{'connected_gene': 'ENSG00000283249', 'score': 0.77}, {'connected_gene': 'HNRNPA1P44', 'score': 0.34}, {'connected_gene': 'LOC105370866', 'score': 0.25}, {'connected_gene': 'RAB11A', 'score': 0.14}]
chr15 GH15I065881 65881318 65882953 0.76 [{'connected_gene': 'GC15P069445', 'score': 0.44}, {'connected_gene': 'TRQ-CTG1-4', 'score': 0.39}, {'connected_gene': 'RAB11A', 'score': 0.1}]

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