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
ENST00000250535 [[115140429, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115151924, 115152651]] [[115141129, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115151924, 115152094]]
ENST00000502631 [[115140960, 115141159], [115142045, 115142215], [115145318, 115145394], [115146857, 115147012], [115148877, 115148955], [115152280, 115152354]] None
ENST00000504877 [[115148878, 115148955], [115149982, 115150178]] None
ENST00000504613 [[115148885, 115148955], [115149594, 115149651], [115151924, 115152354]] None
NR_136621 [[115140429, 115141159], [115142045, 115142215], [115145318, 115145394], [115146857, 115147012], [115148877, 115148955], [115152280, 115152354]] None
NM_001323567 [[115140429, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115152280, 115152354]] [[115141129, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148909]]
NM_001323565 [[115140429, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115149594, 115149651], [115151924, 115152405]] [[115141129, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115149594, 115149651], [115151924, 115152094]]
NR_136618 [[115140429, 115141159], [115142045, 115142215], [115144146, 115144390], [115145318, 115145394], [115146857, 115147012], [115148877, 115148955], [115151924, 115152405]] None
NR_136619 [[115140429, 115141159], [115142045, 115142215], [115145318, 115145394], [115146857, 115147012], [115148877, 115148955], [115151924, 115152405]] None
NM_001801 [[115140429, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115151924, 115152405]] [[115141129, 115141159], [115142045, 115142215], [115146857, 115147012], [115148877, 115148955], [115151924, 115152094]]
NM_001323566 [[115140429, 115141159], [115142045, 115142215], [115146857, 115147009], [115148877, 115148955], [115151924, 115152405]] [[115141129, 115141159], [115142045, 115142215], [115146857, 115147009], [115148877, 115148955], [115151924, 115152094]]
NR_136620 [[115140429, 115141159], [115142045, 115142215], [115146857, 115146972], [115148877, 115148955], [115151924, 115152405]] None
Promoter
Chrom Start End Description
chr5 115152230 115152241 CAGE_peak_2_at_CDO1_5end
chr5 115152347 115152363 CAGE_peak_1_at_CDO1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I115838 115838982 115845270 2.11 [{'connected_gene': 'ATG12', 'score': 565.2}, {'connected_gene': 'AP3S1', 'score': 550.77}, {'connected_gene': 'CDO1', 'score': 34.46}, {'connected_gene': 'ENSG00000250015', 'score': 12.59}, {'connected_gene': 'PGGT1B', 'score': 10.65}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.12}, {'connected_gene': 'GC05M115886', 'score': 0.26}]
chr5 GH05I115831 115831244 115831393 0.75 [{'connected_gene': 'AP3S1', 'score': 0.39}, {'connected_gene': 'CDO1', 'score': 0.39}, {'connected_gene': 'ATG12', 'score': 0.39}]
chr5 GH05I115774 115774172 115775379 0.31 [{'connected_gene': 'RNU2-49P', 'score': 550.77}, {'connected_gene': 'GC05M115775', 'score': 550.77}, {'connected_gene': 'AP3S1', 'score': 9.52}, {'connected_gene': 'ATG12', 'score': 9.52}, {'connected_gene': 'CDO1', 'score': 0.26}]
chr5 GH05I115785 115785704 115785853 0.38 [{'connected_gene': 'RNU2-49P', 'score': 0.39}, {'connected_gene': 'GC05M115775', 'score': 0.39}, {'connected_gene': 'CDO1', 'score': 0.29}]
chr5 GH05I115815 115815698 115817350 1.89 [{'connected_gene': 'CDO1', 'score': 583.17}, {'connected_gene': 'ATG12', 'score': 16.12}, {'connected_gene': 'PGGT1B', 'score': 11.24}, {'connected_gene': 'RNU2-49P', 'score': 0.26}, {'connected_gene': 'GC05M115775', 'score': 0.26}]
chr5 GH05I115822 115822222 115822472 0.34 [{'connected_gene': 'CDO1', 'score': 0.44}, {'connected_gene': 'AP3S1', 'score': 0.37}]
chr5 GH05I115734 115734996 115735371 0.68 [{'connected_gene': 'CDO1', 'score': 12.93}, {'connected_gene': 'RNU2-49P', 'score': 11.13}, {'connected_gene': 'ENSG00000251118', 'score': 11.13}, {'connected_gene': 'LVRN', 'score': 10.01}, {'connected_gene': 'ENSG00000248709', 'score': 0.34}, {'connected_gene': 'ENSG00000249021', 'score': 0.26}]
chr5 GH05I115806 115806379 115807608 0.49 [{'connected_gene': 'CDO1', 'score': 30.25}, {'connected_gene': 'RNU2-49P', 'score': 11.1}, {'connected_gene': 'ENSG00000251118', 'score': 11.09}, {'connected_gene': 'AP3S1', 'score': 10.66}, {'connected_gene': 'ATG12', 'score': 10.66}, {'connected_gene': 'TMED7', 'score': 9.84}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.7}, {'connected_gene': 'GC05M115775', 'score': 0.29}]
chr5 GH05I115685 115685601 115686201 0.2 [{'connected_gene': 'CDO1', 'score': 8.27}, {'connected_gene': 'ENSG00000249021', 'score': 0.44}, {'connected_gene': 'LOC102467217', 'score': 0.39}]
chr5 GH05I115856 115856288 115858395 1.02 [{'connected_gene': 'ENSG00000250015', 'score': 10.89}, {'connected_gene': 'PGGT1B', 'score': 9.85}, {'connected_gene': 'AP3S1', 'score': 9.68}, {'connected_gene': 'CDO1', 'score': 6.19}, {'connected_gene': 'ATG12', 'score': 0.37}, {'connected_gene': 'GC05M115886', 'score': 0.31}]
chr5 GH05I115884 115884607 115886137 0.66 [{'connected_gene': 'GC05M115886', 'score': 550.77}, {'connected_gene': 'AP3S1', 'score': 10.6}, {'connected_gene': 'ATG12', 'score': 10.6}, {'connected_gene': 'LVRN', 'score': 10.54}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.93}, {'connected_gene': 'TMED7', 'score': 9.93}, {'connected_gene': 'CDO1', 'score': 9.48}, {'connected_gene': 'RNU2-49P', 'score': 9.17}, {'connected_gene': 'ENSG00000251118', 'score': 9.17}]

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