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
ENST00000511092 [[170533783, 170533828], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610296]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610296]]
ENST00000513761 [[170541671, 170542214], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170644824]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641148]]
ENST00000347613 [[170541676, 170542214], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170638942, 170639018], [170641057, 170641696]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170638942, 170639018], [170641057, 170641216]]
ENST00000360642 [[170541679, 170542214], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641429]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641148]]
ENST00000512813 [[170541702, 170541833], [170557063, 170557239], [170601200, 170601358], [170608808, 170608906]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608906]]
ENST00000504131 [[170541987, 170542214], [170557063, 170557239], [170584677, 170584768], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641514]] [[170557221, 170557239], [170584677, 170584768], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641148]]
ENST00000506924 [[170557133, 170557239], [170563858, 170564319]] None
ENST00000507875 [[170581212, 170581599], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634338]] [[170581520, 170581599], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634338]]
ENST00000502998 [[170601218, 170601358], [170601529, 170601882]] None
ENST00000515420 [[170616781, 170616843], [170618339, 170618430], [170618511, 170618885], [170625148, 170625335], [170628018, 170628039]] [[170616781, 170616843], [170618339, 170618430], [170618511, 170618885], [170625148, 170625335], [170628018, 170628039]]
NM_001243372 [[170541671, 170542214], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170644338]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641148]]
NM_001829 [[170541671, 170542214], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170644338]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641148]]
NM_173872 [[170541671, 170542214], [170557063, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170638942, 170639018], [170641057, 170644338]] [[170557079, 170557239], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170638942, 170639018], [170641057, 170641216]]
NM_001243374 [[170581212, 170581599], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170644338]] [[170581520, 170581599], [170601200, 170601358], [170608808, 170608908], [170610193, 170610381], [170611680, 170611803], [170613264, 170613471], [170616762, 170616843], [170618339, 170618885], [170625148, 170625335], [170628018, 170628417], [170634229, 170634446], [170641057, 170641148]]
Promoter
Chrom Start End Description
chr4 170541200 170541222 CAGE_peak_12_at_CLCN3_5end
chr4 170541660 170541676 CAGE_peak_6_at_CLCN3_5end
chr4 170541678 170541749 CAGE_peak_1_at_CLCN3_5end
chr4 170541780 170541800 CAGE_peak_4_at_CLCN3_5end
chr4 170541808 170541823 CAGE_peak_7_at_CLCN3_5end
chr4 170541835 170541874 CAGE_peak_3_at_CLCN3_5end
chr4 170581290 170581301 CAGE_peak_8_at_CLCN3_5end
chr4 170581337 170581344 CAGE_peak_10_at_CLCN3_5end
chr4 170581348 170581378 CAGE_peak_5_at_CLCN3_5end
chr4 170581379 170581415 CAGE_peak_2_at_CLCN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I169604 169604289 169605527 1.21 [{'connected_gene': 'NEK1', 'score': 10.53}, {'connected_gene': 'MFAP3L', 'score': 10.33}, {'connected_gene': 'CLCN3', 'score': 7.53}, {'connected_gene': 'LOC105377529', 'score': 0.06}]
chr4 GH04I169649 169649801 169650839 1.03 [{'connected_gene': 'NEK1', 'score': 12.23}, {'connected_gene': 'CLCN3', 'score': 12.23}, {'connected_gene': 'SH3RF1', 'score': 4.33}, {'connected_gene': 'GC04M169663', 'score': 0.34}]
chr4 GH04I169610 169610136 169613833 2.25 [{'connected_gene': 'NEK1', 'score': 568.08}, {'connected_gene': 'CLCN3', 'score': 550.77}, {'connected_gene': 'LOC105377529', 'score': 0.06}]
chr4 GH04I169383 169383162 169385454 0.59 [{'connected_gene': 'CLCN3', 'score': 7.0}, {'connected_gene': 'SH3RF1', 'score': 4.54}, {'connected_gene': 'LOC105377529', 'score': 0.23}, {'connected_gene': 'NEK1', 'score': 0.07}]
chr4 GH04I169618 169618941 169623157 2.58 [{'connected_gene': 'CLCN3', 'score': 551.65}, {'connected_gene': 'NEK1', 'score': 14.89}, {'connected_gene': 'GC04M169663', 'score': 0.23}]
chr4 GH04I169656 169656655 169665000 2.23 [{'connected_gene': 'CLCN3', 'score': 569.6}, {'connected_gene': 'NEK1', 'score': 28.12}, {'connected_gene': 'GC04M169663', 'score': 0.39}]
chr4 GH04I169631 169631664 169633327 0.68 [{'connected_gene': 'CLCN3', 'score': 7.77}, {'connected_gene': 'NEK1', 'score': 2.87}, {'connected_gene': 'GC04M169663', 'score': 0.26}]
chr4 GH04I169627 169626985 169627238 1.17 [{'connected_gene': 'CLCN3', 'score': 2.11}, {'connected_gene': 'NEK1', 'score': 2.04}, {'connected_gene': 'GC04M169663', 'score': 0.25}]
chr4 GH04I169626 169626330 169626476 0.88 [{'connected_gene': 'CLCN3', 'score': 3.61}, {'connected_gene': 'GC04M169663', 'score': 0.25}]
chr4 GH04I169615 169615534 169616192 0.57 [{'connected_gene': 'CLCN3', 'score': 0.77}, {'connected_gene': 'GC04M169663', 'score': 0.22}]
chr4 GH04I169619 169618104 169618755 0.69 [{'connected_gene': 'CLCN3', 'score': 0.44}, {'connected_gene': 'GC04M169663', 'score': 0.23}]
chr4 GH04I169640 169640610 169640799 0.46 [{'connected_gene': 'CLCN3', 'score': 0.31}, {'connected_gene': 'GC04M169663', 'score': 0.29}]
chr4 GH04I169665 169665191 169665284 0.49 [{'connected_gene': 'GC04M169663', 'score': 0.44}, {'connected_gene': 'CLCN3', 'score': 0.23}]

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