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
ENST00000294428 [[65210777, 65211104], [65234338, 65234405], [65243305, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270416, 65270521], [65270673, 65270788], [65272888, 65273157], [65278420, 65278532], [65280386, 65280523], [65296521, 65298912]] [[65210855, 65211104], [65234338, 65234405], [65243305, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270416, 65270521], [65270673, 65270788], [65272888, 65273157], [65278420, 65278532], [65280386, 65280523], [65296521, 65296668]]
ENST00000371072 [[65210777, 65211104], [65234338, 65234405], [65243305, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270455, 65270521], [65270673, 65270788], [65272888, 65273157], [65278420, 65278532], [65280386, 65280523], [65296521, 65298915]] [[65210855, 65211104], [65234338, 65234405], [65243305, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270455, 65270521], [65270673, 65270788], [65272888, 65273157], [65278420, 65278532], [65280386, 65280523], [65296521, 65296668]]
ENST00000430964 [[65243746, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65278432, 65278532], [65280386, 65280523], [65296521, 65296743]] [[65247158, 65247254], [65255070, 65255197], [65268658, 65268744], [65278432, 65278532], [65280386, 65280523], [65296521, 65296668]]
ENST00000418058 [[65243748, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270455, 65270521], [65270673, 65270788], [65278420, 65278532], [65280386, 65282192]] [[65247158, 65247254], [65255070, 65255197], [65268658, 65268744], [65270455, 65270521], [65270673, 65270788], [65278420, 65278431]]
NM_018211 [[65210777, 65211104], [65234338, 65234405], [65243305, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270455, 65270521], [65270673, 65270788], [65272888, 65273157], [65278420, 65278532], [65280386, 65280523], [65296521, 65298915]] [[65210855, 65211104], [65234338, 65234405], [65243305, 65243775], [65247062, 65247254], [65255070, 65255197], [65268658, 65268744], [65270455, 65270521], [65270673, 65270788], [65272888, 65273157], [65278420, 65278532], [65280386, 65280523], [65296521, 65296668]]
Promoter
Chrom Start End Description
chr1 65210618 65210637 CAGE_peak_5_at_RAVER2_5end
chr1 65210639 65210670 CAGE_peak_3_at_RAVER2_5end
chr1 65210721 65210770 CAGE_peak_1_at_RAVER2_5end
chr1 65210772 65210840 CAGE_peak_2_at_RAVER2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I064598 64598200 64598767 0.38 [{'connected_gene': 'CACHD1', 'score': 4.42}, {'connected_gene': 'GC01M064570', 'score': 0.44}, {'connected_gene': 'RAVER2', 'score': 0.11}]
chr1 GH01I064685 64685454 64688399 0.9 [{'connected_gene': 'RAVER2', 'score': 0.22}, {'connected_gene': 'GC01M064570', 'score': 0.15}, {'connected_gene': 'CACHD1', 'score': 0.08}]
chr1 GH01I064691 64691401 64692186 0.51 [{'connected_gene': 'RAVER2', 'score': 0.23}, {'connected_gene': 'GC01M064570', 'score': 0.15}, {'connected_gene': 'CACHD1', 'score': 0.07}]
chr1 GH01I064624 64624600 64624801 0.38 [{'connected_gene': 'RAVER2', 'score': 10.73}, {'connected_gene': 'GC01M064570', 'score': 0.29}, {'connected_gene': 'CACHD1', 'score': 0.1}]
chr1 GH01I065441 65441200 65441401 0.2 [{'connected_gene': 'RAVER2', 'score': 5.09}, {'connected_gene': 'LEPR', 'score': 0.34}, {'connected_gene': 'ENSG00000237852', 'score': 0.25}]
chr1 GH01I064828 64828292 64831190 0.38 [{'connected_gene': 'RAVER2', 'score': 19.25}, {'connected_gene': 'JAK1', 'score': 4.47}, {'connected_gene': 'GC01P064827', 'score': 0.77}, {'connected_gene': 'GC01P064826', 'score': 0.77}, {'connected_gene': 'GC01M064851', 'score': 0.31}]
chr1 GH01I064744 64744200 64747383 1.93 [{'connected_gene': 'RAVER2', 'score': 561.93}, {'connected_gene': 'GC01P064806', 'score': 0.21}]
chr1 GH01I064756 64756900 64757798 0.78 [{'connected_gene': 'RAVER2', 'score': 0.39}, {'connected_gene': 'GC01P064806', 'score': 0.25}]
chr1 GH01I064913 64913801 64914200 0.4 [{'connected_gene': 'JAK1', 'score': 11.48}, {'connected_gene': 'RAVER2', 'score': 6.45}, {'connected_gene': 'LOC100130270', 'score': 0.77}, {'connected_gene': 'GC01P064910', 'score': 0.77}]
chr1 GH01I064834 64834854 64836403 0.2 [{'connected_gene': 'JAK1', 'score': 13.5}, {'connected_gene': 'RAVER2', 'score': 11.25}, {'connected_gene': 'GC01P064827', 'score': 0.44}, {'connected_gene': 'GC01P064826', 'score': 0.44}, {'connected_gene': 'GC01M064851', 'score': 0.34}]
chr1 GH01I064891 64891202 64892356 1.02 [{'connected_gene': 'JAK1', 'score': 23.56}, {'connected_gene': 'RAVER2', 'score': 9.58}, {'connected_gene': 'GC01P064883', 'score': 0.44}, {'connected_gene': 'GC01M064894', 'score': 0.39}]
chr1 GH01I064861 64861088 64862688 0.76 [{'connected_gene': 'JAK1', 'score': 12.73}, {'connected_gene': 'RAVER2', 'score': 9.7}, {'connected_gene': 'GC01M064851', 'score': 0.77}, {'connected_gene': 'GC01P064868', 'score': 0.44}]
chr1 GH01I064863 64863637 64865998 1.42 [{'connected_gene': 'JAK1', 'score': 22.99}, {'connected_gene': 'RAVER2', 'score': 9.7}, {'connected_gene': 'GC01P064868', 'score': 0.77}, {'connected_gene': 'GC01M064851', 'score': 0.44}]
chr1 GH01I064874 64874302 64875707 0.31 [{'connected_gene': 'JAK1', 'score': 23.4}, {'connected_gene': 'RAVER2', 'score': 6.44}, {'connected_gene': 'GC01M064872', 'score': 0.77}, {'connected_gene': 'GC01P064868', 'score': 0.44}]
chr1 GH01I064850 64850906 64853073 0.49 [{'connected_gene': 'JAK1', 'score': 22.97}, {'connected_gene': 'RAVER2', 'score': 5.37}, {'connected_gene': 'GC01M064851', 'score': 0.44}, {'connected_gene': 'GC01P064827', 'score': 0.31}]
chr1 GH01I064956 64956002 64959237 1.27 [{'connected_gene': 'JAK1', 'score': 14.93}, {'connected_gene': 'RAVER2', 'score': 5.66}, {'connected_gene': 'GC01P064945', 'score': 0.39}]
chr1 GH01I064954 64954766 64955466 0.92 [{'connected_gene': 'JAK1', 'score': 14.53}, {'connected_gene': 'RAVER2', 'score': 5.66}, {'connected_gene': 'GC01P064945', 'score': 0.44}]
chr1 GH01I064959 64959813 64967588 2.38 [{'connected_gene': 'JAK1', 'score': 565.2}, {'connected_gene': 'SLC2A3P2', 'score': 11.82}, {'connected_gene': 'RAVER2', 'score': 6.05}, {'connected_gene': 'GC01P064945', 'score': 0.37}]
chr1 GH01I064919 64919746 64923627 1.5 [{'connected_gene': 'JAK1', 'score': 24.57}, {'connected_gene': 'AK4', 'score': 9.58}, {'connected_gene': 'RAVER2', 'score': 8.36}, {'connected_gene': 'GC01P064919', 'score': 0.77}, {'connected_gene': 'GC01M064928', 'score': 0.37}]
chr1 GH01I064879 64879843 64883523 0.8 [{'connected_gene': 'JAK1', 'score': 24.75}, {'connected_gene': 'RNU6-1176P', 'score': 11.51}, {'connected_gene': 'RAVER2', 'score': 10.07}, {'connected_gene': 'AK4', 'score': 9.9}, {'connected_gene': 'GC01M064872', 'score': 0.77}, {'connected_gene': 'GC01P064883', 'score': 0.77}]
chr1 GH01I064907 64906401 64906600 0.89 [{'connected_gene': 'JAK1', 'score': 12.18}, {'connected_gene': 'RNU6-1176P', 'score': 11.32}, {'connected_gene': 'RAVER2', 'score': 9.53}, {'connected_gene': 'GC01P064910', 'score': 0.77}, {'connected_gene': 'GC01M064894', 'score': 0.77}]
chr1 GH01I064840 64840875 64844262 0.49 [{'connected_gene': 'JAK1', 'score': 33.81}, {'connected_gene': 'RNU6-1176P', 'score': 10.7}, {'connected_gene': 'RAVER2', 'score': 6.56}, {'connected_gene': 'GC01P064827', 'score': 0.37}, {'connected_gene': 'GC01P064826', 'score': 0.37}, {'connected_gene': 'GC01M064851', 'score': 0.37}]
chr1 GH01I064896 64896595 64899668 1.67 [{'connected_gene': 'JAK1', 'score': 20.51}, {'connected_gene': 'RNU6-1176P', 'score': 11.32}, {'connected_gene': 'AK4', 'score': 10.22}, {'connected_gene': 'RAVER2', 'score': 6.98}, {'connected_gene': 'GC01M064894', 'score': 0.77}, {'connected_gene': 'GC01P064883', 'score': 0.39}]
chr1 GH01I064893 64893201 64896118 1.15 [{'connected_gene': 'JAK1', 'score': 18.99}, {'connected_gene': 'RNU6-1176P', 'score': 11.14}, {'connected_gene': 'AK4', 'score': 10.22}, {'connected_gene': 'RAVER2', 'score': 8.66}, {'connected_gene': 'GC01M064894', 'score': 0.44}, {'connected_gene': 'GC01P064883', 'score': 0.39}]
chr1 GH01I064989 64989379 64990089 0.81 [{'connected_gene': 'LINC01359', 'score': 35.66}, {'connected_gene': 'SLC2A3P2', 'score': 30.41}, {'connected_gene': 'JAK1', 'score': 26.64}, {'connected_gene': 'ENSG00000272506', 'score': 13.58}, {'connected_gene': 'RNU6-1176P', 'score': 12.53}, {'connected_gene': 'ENSG00000237852', 'score': 11.59}, {'connected_gene': 'LEPROT', 'score': 11.04}, {'connected_gene': 'AK4', 'score': 9.68}, {'connected_gene': 'RAVER2', 'score': 4.72}]
chr1 GH01I064597 64597224 64597444 0.58 [{'connected_gene': 'GC01M064570', 'score': 0.44}, {'connected_gene': 'CACHD1', 'score': 0.13}, {'connected_gene': 'RAVER2', 'score': 0.11}]
chr1 GH01I064595 64595055 64596953 0.78 [{'connected_gene': 'GC01M064570', 'score': 0.77}, {'connected_gene': 'CACHD1', 'score': 0.13}, {'connected_gene': 'RAVER2', 'score': 0.11}]
chr1 GH01I064664 64664498 64664647 0.31 [{'connected_gene': 'GC01M064570', 'score': 0.19}, {'connected_gene': 'RAVER2', 'score': 0.18}, {'connected_gene': 'CACHD1', 'score': 0.08}]
chr1 GH01I064623 64623858 64624007 0.57 [{'connected_gene': 'GC01M064570', 'score': 0.29}, {'connected_gene': 'RAVER2', 'score': 0.13}, {'connected_gene': 'CACHD1', 'score': 0.1}]
chr1 GH01I064643 64643118 64643267 0.38 [{'connected_gene': 'GC01M064570', 'score': 0.23}, {'connected_gene': 'RAVER2', 'score': 0.15}, {'connected_gene': 'CACHD1', 'score': 0.09}]
chr1 GH01I064753 64753835 64756522 0.57 [{'connected_gene': 'ENSG00000272506', 'score': 13.25}, {'connected_gene': 'RAVER2', 'score': 11.69}, {'connected_gene': 'GC01P064806', 'score': 0.23}]
chr1 GH01I064826 64826432 64828069 0.43 [{'connected_gene': 'GC01P064827', 'score': 550.77}, {'connected_gene': 'GC01P064826', 'score': 550.77}, {'connected_gene': 'RAVER2', 'score': 10.82}, {'connected_gene': 'GC01M064851', 'score': 0.29}]
chr1 GH01I064798 64798998 64799147 0.2 [{'connected_gene': 'GC01P064806', 'score': 0.44}, {'connected_gene': 'RAVER2', 'score': 0.23}]
chr1 GH01I064823 64823838 64824600 1.05 [{'connected_gene': 'GC01P064827', 'score': 550.77}, {'connected_gene': 'GC01P064826', 'score': 550.77}, {'connected_gene': 'RAVER2', 'score': 8.21}, {'connected_gene': 'GC01P064806', 'score': 0.37}]
chr1 GH01I064884 64884058 64885491 0.8 [{'connected_gene': 'GC01P064883', 'score': 550.77}, {'connected_gene': 'JAK1', 'score': 19.36}, {'connected_gene': 'RAVER2', 'score': 10.52}, {'connected_gene': 'GC01M064894', 'score': 0.37}]
chr1 GH01I064866 64866530 64872679 0.46 [{'connected_gene': 'GC01P064868', 'score': 550.77}, {'connected_gene': 'JAK1', 'score': 31.63}, {'connected_gene': 'MIR101-1', 'score': 10.97}, {'connected_gene': 'RAVER2', 'score': 9.71}, {'connected_gene': 'GC01M064872', 'score': 0.44}]
chr1 GH01I064875 64875762 64878474 0.51 [{'connected_gene': 'GC01M064872', 'score': 550.77}, {'connected_gene': 'JAK1', 'score': 18.04}, {'connected_gene': 'AK4', 'score': 9.9}, {'connected_gene': 'RAVER2', 'score': 9.71}, {'connected_gene': 'GC01P064868', 'score': 0.44}]
chr1 GH01I064911 64911021 64913340 0.63 [{'connected_gene': 'GC01P064910', 'score': 550.77}, {'connected_gene': 'JAK1', 'score': 17.58}, {'connected_gene': 'RNU6-1176P', 'score': 11.28}, {'connected_gene': 'RAVER2', 'score': 9.3}, {'connected_gene': 'LOC100130270', 'score': 0.44}]
chr1 GH01I064900 64900169 64902356 0.72 [{'connected_gene': 'GC01M064894', 'score': 550.77}, {'connected_gene': 'JAK1', 'score': 19.07}, {'connected_gene': 'RNU6-1176P', 'score': 11.32}, {'connected_gene': 'RAVER2', 'score': 9.58}, {'connected_gene': 'GC01P064883', 'score': 0.37}]
chr1 GH01I065207 65207333 65207977 0.43 [{'connected_gene': 'GC01M065201', 'score': 550.77}, {'connected_gene': 'AK4', 'score': 27.19}, {'connected_gene': 'MIR101-1', 'score': 11.39}, {'connected_gene': 'RAVER2', 'score': 7.1}, {'connected_gene': 'GC01M065188', 'score': 0.37}]
chr1 GH01I064914 64914899 64918829 1.65 [{'connected_gene': 'GC01P064919', 'score': 550.77}, {'connected_gene': 'LOC100130270', 'score': 550.77}, {'connected_gene': 'JAK1', 'score': 23.14}, {'connected_gene': 'RAVER2', 'score': 7.76}, {'connected_gene': 'GC01P064910', 'score': 0.44}]

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