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
ENST00000565560 [[67204056, 67204104], [67208064, 67208367], [67208523, 67208751]] [[67208072, 67208367], [67208523, 67208751]]
ENST00000563439 [[67204399, 67204477], [67205054, 67205155], [67207910, 67207949], [67208064, 67208367], [67208523, 67208644]] [[67208072, 67208367], [67208523, 67208644]]
ENST00000568086 [[67204404, 67204477], [67205054, 67205559]] None
ENST00000432069 [[67204404, 67204477], [67205054, 67205360], [67207764, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209643]] [[67208072, 67208367], [67208523, 67208847], [67208949, 67208957]]
ENST00000564992 [[67204427, 67204477], [67208064, 67208367], [67208523, 67208847]] [[67208072, 67208367], [67208523, 67208847]]
ENST00000564053 [[67204442, 67204477], [67205054, 67205360], [67207764, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209388]] [[67207771, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67208957]]
ENST00000565645 [[67204444, 67204477], [67205054, 67205360], [67207652, 67207832]] None
ENST00000568199 [[67205536, 67205905], [67206662, 67206906]] None
ENST00000566871 [[67207853, 67207949], [67208064, 67208243], [67208523, 67208847], [67208949, 67209102]] [[67207853, 67207949], [67208064, 67208243], [67208523, 67208847], [67208949, 67209000]]
ENST00000568503 [[67207856, 67207949], [67208064, 67208847], [67208949, 67209584]] None
ENST00000268605 [[67207869, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209624]] [[67208072, 67208367], [67208523, 67208847], [67208949, 67208957]]
ENST00000563258 [[67207886, 67207949], [67208523, 67208847], [67208949, 67209356]] [[67207886, 67207949], [67208523, 67208847], [67208949, 67208957]]
ENST00000568146 [[67207904, 67207949], [67208064, 67208357], [67208523, 67208847], [67208949, 67209638]] [[67208072, 67208357], [67208523, 67208847], [67208949, 67209000]]
ENST00000564860 [[67208746, 67208849], [67208949, 67209163]] [[67208746, 67208849], [67208949, 67209163]]
NM_001276309 [[67204399, 67204477], [67208064, 67208367], [67208523, 67208847], [67208949, 67209640]] [[67208072, 67208367], [67208523, 67208847], [67208949, 67208957]]
NM_001276307 [[67204399, 67204477], [67205054, 67205155], [67207910, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209640]] [[67208072, 67208367], [67208523, 67208847], [67208949, 67208957]]
NM_001276319 [[67204399, 67204477], [67205054, 67205360], [67207764, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209640]] [[67207771, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67208957]]
NM_001276312 [[67204399, 67204477], [67205054, 67205360], [67207764, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209640]] [[67208072, 67208367], [67208523, 67208847], [67208949, 67208957]]
NM_001276311 [[67207755, 67207949], [67208064, 67208243], [67208523, 67208847], [67208949, 67209640]] [[67208072, 67208243], [67208523, 67208847], [67208949, 67209000]]
NM_001185057 [[67207755, 67207949], [67208064, 67208357], [67208523, 67208847], [67208949, 67209640]] [[67208072, 67208357], [67208523, 67208847], [67208949, 67209000]]
NM_003946 [[67207755, 67207949], [67208064, 67208367], [67208523, 67208847], [67208949, 67209640]] [[67208072, 67208367], [67208523, 67208847], [67208949, 67208957]]
Promoter
Chrom Start End Description
chr16 67204418 67204453 CAGE_peak_1_at_NOL3_5end
chr16 67207821 67207836 CAGE_peak_5_at_NOL3_5end
chr16 67207838 67207870 CAGE_peak_2_at_NOL3_5end
chr16 67207872 67207900 CAGE_peak_4_at_NOL3_5end
chr16 67208248 67208308 CAGE_peak_3_at_NOL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067180 67180998 67182405 0.99 [{'connected_gene': 'ATP6V0D1', 'score': 6.38}, {'connected_gene': 'DPEP2', 'score': 5.53}, {'connected_gene': 'ENKD1', 'score': 4.68}, {'connected_gene': 'KIAA0895L', 'score': 0.77}, {'connected_gene': 'NOL3', 'score': 0.39}]
chr16 GH16I067168 67168861 67172254 2.17 [{'connected_gene': 'NOL3', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 10.12}, {'connected_gene': 'HSF4', 'score': 0.44}, {'connected_gene': 'KIAA0895L', 'score': 0.39}]
chr16 GH16I067173 67173143 67175384 2.21 [{'connected_gene': 'NOL3', 'score': 550.77}, {'connected_gene': 'ELMO3', 'score': 12.91}, {'connected_gene': 'ENSG00000260465', 'score': 5.67}, {'connected_gene': 'KIAA0895L', 'score': 0.44}]
chr16 GH16I067175 67175750 67176301 0.38 [{'connected_gene': 'NOL3', 'score': 0.44}, {'connected_gene': 'KIAA0895L', 'score': 0.44}]
chr16 GH16I066902 66902498 66906583 1.98 [{'connected_gene': 'CES2', 'score': 24.81}, {'connected_gene': 'KIAA0895L', 'score': 21.58}, {'connected_gene': 'E2F4', 'score': 20.35}, {'connected_gene': 'NAE1', 'score': 18.67}, {'connected_gene': 'RRAD', 'score': 15.37}, {'connected_gene': 'FAM96B', 'score': 12.11}, {'connected_gene': 'EDC4', 'score': 12.01}, {'connected_gene': 'CENPT', 'score': 11.33}, {'connected_gene': 'CTCF', 'score': 11.02}, {'connected_gene': 'EXOC3L1', 'score': 9.96}, {'connected_gene': 'C16orf70', 'score': 9.85}, {'connected_gene': 'CES3', 'score': 9.5}, {'connected_gene': 'LINC00920', 'score': 6.03}, {'connected_gene': 'ELMO3', 'score': 5.94}, {'connected_gene': 'BEAN1', 'score': 4.82}, {'connected_gene': 'NOL3', 'score': 1.61}, {'connected_gene': 'GC16P066910', 'score': 0.44}, {'connected_gene': 'GC16P066912', 'score': 0.44}, {'connected_gene': 'PIR47501', 'score': 0.44}, {'connected_gene': 'GC16P066911', 'score': 0.44}, {'connected_gene': 'GC16P066890', 'score': 0.37}]
chr16 GH16I067137 67137718 67137867 0.46 [{'connected_gene': 'TRADD', 'score': 11.96}, {'connected_gene': 'FBXL8', 'score': 11.96}, {'connected_gene': 'HSF4', 'score': 11.93}, {'connected_gene': 'NOL3', 'score': 11.47}, {'connected_gene': 'CBFB', 'score': 10.66}, {'connected_gene': 'KIAA0895L', 'score': 10.47}, {'connected_gene': 'EXOC3L1', 'score': 10.46}, {'connected_gene': 'E2F4', 'score': 10.46}, {'connected_gene': 'CES2', 'score': 10.37}, {'connected_gene': 'CDH16', 'score': 10.02}, {'connected_gene': 'RRAD', 'score': 10.02}, {'connected_gene': 'PIR51258', 'score': 0.39}, {'connected_gene': 'C16orf70', 'score': 0.31}]
chr16 GH16I067177 67177543 67179269 1.3 [{'connected_gene': 'ELMO3', 'score': 11.97}, {'connected_gene': 'NOL3', 'score': 0.44}, {'connected_gene': 'KIAA0895L', 'score': 0.44}]
chr16 GH16I067162 67162521 67166622 1.87 [{'connected_gene': 'HSF4', 'score': 550.77}, {'connected_gene': 'ENSG00000265690', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 10.69}, {'connected_gene': 'B3GNT9', 'score': 5.57}, {'connected_gene': 'LRRC36', 'score': 3.99}, {'connected_gene': 'FBXL8', 'score': 0.77}, {'connected_gene': 'NOL3', 'score': 0.44}]