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
ENST00000416782 [[75006509, 75006586], [75006767, 75007262], [75011520, 75011781], [75012227, 75012390]] [[75007164, 75007262], [75011520, 75011781], [75012227, 75012240]]
ENST00000479005 [[75008600, 75010749], [75011520, 75011795], [75012227, 75012383]] None
ENST00000372945 [[75008600, 75010749], [75011520, 75011781], [75012227, 75012451]] [[75010609, 75010749], [75011520, 75011781], [75012227, 75012240]]
ENST00000372940 [[75008695, 75009076], [75011520, 75011781], [75012227, 75012451]] [[75009050, 75009076], [75011520, 75011781], [75012227, 75012240]]
ENST00000471251 [[75010498, 75010749], [75011520, 75011781], [75012016, 75012162]] None
ENST00000473427 [[75010501, 75010749], [75011520, 75011781], [75012289, 75012392]] None
NM_016065 [[75008600, 75010749], [75011520, 75011781], [75012227, 75012451]] [[75010609, 75010749], [75011520, 75011781], [75012227, 75012240]]
Promoter
Chrom Start End Description
chr10 75012141 75012167 CAGE_peak_3_at_MRPS16_5end
chr10 75012310 75012337 CAGE_peak_2_at_MRPS16_5end
chr10 75012360 75012408 CAGE_peak_1_at_MRPS16_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I073758 73758279 73761838 0.89 [{'connected_gene': 'NDST2', 'score': 18.83}, {'connected_gene': 'ENSG00000224195', 'score': 11.3}, {'connected_gene': 'CAMK2G', 'score': 11.2}, {'connected_gene': 'MRPS16', 'score': 5.16}, {'connected_gene': 'GC10P073762', 'score': 0.77}, {'connected_gene': 'SEC24C', 'score': 0.37}, {'connected_gene': 'GC10M073741', 'score': 0.37}]
chr10 GH10I073243 73243499 73249007 2.29 [{'connected_gene': 'DNAJC9-AS1', 'score': 550.77}, {'connected_gene': 'DNAJC9', 'score': 550.77}, {'connected_gene': 'SEC24C', 'score': 43.98}, {'connected_gene': 'NDST2', 'score': 40.51}, {'connected_gene': 'ZSWIM8', 'score': 37.83}, {'connected_gene': 'NUDT13', 'score': 33.9}, {'connected_gene': 'DNAJB12', 'score': 31.99}, {'connected_gene': 'GLUD1P3', 'score': 31.46}, {'connected_gene': 'ZSWIM8-AS1', 'score': 30.56}, {'connected_gene': 'ENSG00000272140', 'score': 26.02}, {'connected_gene': 'AP3M1', 'score': 24.76}, {'connected_gene': 'DUSP8P5', 'score': 22.39}, {'connected_gene': 'BMS1P4', 'score': 21.58}, {'connected_gene': 'CFAP70', 'score': 20.38}, {'connected_gene': 'RPL17P50', 'score': 12.79}, {'connected_gene': 'ECD', 'score': 11.32}, {'connected_gene': 'ENSG00000233144', 'score': 9.9}, {'connected_gene': 'ENSG00000242288', 'score': 9.68}, {'connected_gene': 'MRPS16', 'score': 0.44}, {'connected_gene': 'PIR34636', 'score': 0.44}, {'connected_gene': 'FAM149B1', 'score': 0.18}]
chr10 GH10I073250 73250585 73254082 2.28 [{'connected_gene': 'ENSG00000227540', 'score': 550.77}, {'connected_gene': 'MRPS16', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 49.77}, {'connected_gene': 'NDST2', 'score': 46.18}, {'connected_gene': 'ZSWIM8', 'score': 43.85}, {'connected_gene': 'SEC24C', 'score': 43.78}, {'connected_gene': 'AP3M1', 'score': 43.14}, {'connected_gene': 'ECD', 'score': 35.15}, {'connected_gene': 'NUDT13', 'score': 33.89}, {'connected_gene': 'ENSG00000272140', 'score': 33.07}, {'connected_gene': 'GLUD1P3', 'score': 32.49}, {'connected_gene': 'DUSP8P5', 'score': 30.82}, {'connected_gene': 'BMS1P4', 'score': 29.15}, {'connected_gene': 'ZSWIM8-AS1', 'score': 28.03}, {'connected_gene': 'ENSG00000242288', 'score': 21.85}, {'connected_gene': 'CFAP70', 'score': 20.27}, {'connected_gene': 'AGAP5', 'score': 11.31}, {'connected_gene': 'ENSG00000268584', 'score': 9.8}, {'connected_gene': 'DNAJC9-AS1', 'score': 0.77}, {'connected_gene': 'DNAJC9', 'score': 0.77}]
chr10 GH10I073229 73229801 73230200 0.31 [{'connected_gene': 'ENSG00000227540', 'score': 11.92}, {'connected_gene': 'MRPS16', 'score': 11.13}, {'connected_gene': 'NUDT13', 'score': 10.13}, {'connected_gene': 'RNU6-883P', 'score': 9.29}, {'connected_gene': 'USP54', 'score': 9.28}, {'connected_gene': 'LOC105378358', 'score': 0.77}, {'connected_gene': 'DNAJC9', 'score': 0.37}, {'connected_gene': 'EIF4A2P2', 'score': 0.29}, {'connected_gene': 'FAM149B1', 'score': 0.21}]