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
ENST00000554317 [[69726358, 69726514], [69726894, 69727184], [69787427, 69787560]] None
ENST00000555920 [[69726358, 69726463], [69726894, 69727184], [69787427, 69787585], [69791408, 69791459]] None
ENST00000337827 [[69726680, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69818887], [69820048, 69821183]] [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69818885]]
ENST00000553471 [[69726890, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69818458], [69821030, 69821183]] [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814809]]
ENST00000448469 [[69726917, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69819388]] [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69818885]]
ENST00000553669 [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814809]] [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814809]]
ENST00000554858 [[69725993, 69726463], [69726894, 69727054]] None
ENST00000553740 [[69765257, 69765388], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792742]] None
ENST00000556677 [[69799238, 69799320], [69799801, 69799886], [69800178, 69800276], [69800382, 69800461], [69805367, 69805494], [69806243, 69806340]] None
ENST00000556829 [[69818745, 69818887], [69820487, 69820685]] None
NM_020692 [[69726680, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69818887], [69820048, 69821190]] [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69818885]]
NM_001168368 [[69726680, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69821190]] [[69727007, 69727184], [69787427, 69787585], [69791408, 69791507], [69792053, 69792121], [69792678, 69792744], [69795166, 69795288], [69798180, 69798268], [69799801, 69799886], [69800213, 69800317], [69805367, 69805494], [69806243, 69806336], [69808397, 69808481], [69813756, 69813898], [69814593, 69814719], [69818747, 69818885]]
Promoter
Chrom Start End Description
chr14 69726342 69726428 CAGE_peak_2_at_GALNTL1_5end
chr14 69726601 69726621 CAGE_peak_6_at_GALNTL1_5end
chr14 69726656 69726686 CAGE_peak_4_at_GALNTL1_5end
chr14 69726695 69726713 CAGE_peak_3_at_GALNTL1_5end
chr14 69726864 69726916 CAGE_peak_1_at_GALNTL1_5end
chr14 69726920 69726925 CAGE_peak_7_at_GALNTL1_5end
chr14 69726968 69726987 CAGE_peak_5_at_GALNTL1_5end