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
ENST00000371197 [[49467670, 49467755], [49479675, 49479781], [49483365, 49483473], [49485142, 49485269], [49489357, 49489484], [49494200, 49494760]] [[49479703, 49479781], [49483365, 49483473], [49485142, 49485269], [49489357, 49489484], [49494200, 49494627]]
ENST00000545705 [[49467691, 49467755], [49479664, 49479781], [49483365, 49483473], [49485142, 49485269], [49489357, 49489484], [49494200, 49494228]] [[49479703, 49479781], [49483365, 49483473], [49485142, 49485269], [49489357, 49489484], [49494200, 49494228]]
NM_001010904 [[49467670, 49467755], [49479675, 49479781], [49483365, 49483473], [49485142, 49485269], [49489357, 49489484], [49494200, 49495777]] [[49479703, 49479781], [49483365, 49483473], [49485142, 49485269], [49489357, 49489484], [49494200, 49494627]]
Promoter
Chrom Start End Description
chr6 49467576 49467583 CAGE_peak_5_at_GLYATL3_5end
chr6 49467630 49467640 CAGE_peak_3_at_GLYATL3_5end
chr6 49467646 49467657 CAGE_peak_1_at_GLYATL3_5end
chr6 49467678 49467693 CAGE_peak_2_at_GLYATL3_5end
chr6 49467718 49467724 CAGE_peak_4_at_GLYATL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I049523 49523003 49524274 0.94 [{'connected_gene': 'MUT', 'score': 15.98}, {'connected_gene': 'GLYATL3', 'score': 11.92}, {'connected_gene': 'LOC101927020', 'score': 10.07}, {'connected_gene': 'LOC101927048', 'score': 10.06}, {'connected_gene': 'CENPQ', 'score': 6.3}, {'connected_gene': 'GC06P049517', 'score': 0.44}, {'connected_gene': 'GC06M049537', 'score': 0.39}]
chr6 GH06I049532 49532028 49532599 1.07 [{'connected_gene': 'GLYATL3', 'score': 11.97}, {'connected_gene': 'CENPQ', 'score': 7.46}, {'connected_gene': 'GC06M049537', 'score': 0.77}, {'connected_gene': 'GC06P049517', 'score': 0.39}]
chr6 GH06I049479 49479419 49480203 0.38 [{'connected_gene': 'GLYATL3', 'score': 10.9}, {'connected_gene': 'CENPQ', 'score': 0.37}]
chr6 GH06I049499 49499890 49499949 0.5 [{'connected_gene': 'GLYATL3', 'score': 550.77}, {'connected_gene': 'CENPQ', 'score': 0.28}]
chr6 GH06I049908 49908630 49910356 0.38 [{'connected_gene': 'GLYATL3', 'score': 10.63}, {'connected_gene': 'MUT', 'score': 4.36}, {'connected_gene': 'GC06P049919', 'score': 0.44}, {'connected_gene': 'CRISP1', 'score': 0.29}]
chr6 GH06I049528 49528054 49529307 0.38 [{'connected_gene': 'GLYATL3', 'score': 11.89}, {'connected_gene': 'LOC101927020', 'score': 10.06}, {'connected_gene': 'LOC101927048', 'score': 10.06}, {'connected_gene': 'CENPQ', 'score': 4.51}, {'connected_gene': 'GC06M049537', 'score': 0.44}, {'connected_gene': 'GC06P049517', 'score': 0.39}]

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