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
ENST00000591107 [[21086147, 21086606], [21113318, 21113481], [21114409, 21114523], [21115432, 21115586]] [[21086499, 21086606], [21113318, 21113481], [21114409, 21114523], [21115432, 21115586]]
ENST00000590723 [[21102278, 21102870], [21113318, 21113481]] [[21102853, 21102870], [21113318, 21113481]]
ENST00000593280 [[21108170, 21109691], [21113318, 21113404]] [[21109650, 21109691], [21113318, 21113404]]
ENST00000586150 [[21109256, 21109318], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664]] [[21109301, 21109318], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664]]
ENST00000269228 [[21111400, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21127969, 21128072], [21131590, 21131691], [21134721, 21134948], [21136206, 21136577], [21137080, 21137154], [21140194, 21140444], [21141323, 21141491], [21148786, 21148962], [21152037, 21152144], [21153415, 21153538], [21166250, 21166862]] [[21112165, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21127969, 21128072], [21131590, 21131691], [21134721, 21134948], [21136206, 21136577], [21137080, 21137154], [21140194, 21140444], [21141323, 21141491], [21148786, 21148962], [21152037, 21152144], [21153415, 21153538], [21166250, 21166307]]
ENST00000588867 [[21111685, 21112248], [21113318, 21114523], [21115432, 21115664]] None
ENST00000412552 [[21111909, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21134721, 21134948], [21136206, 21136628], [21137080, 21137154], [21140194, 21140306]] [[21112165, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21134721, 21134948], [21136206, 21136628], [21137080, 21137154], [21140194, 21140274]]
ENST00000591051 [[21111909, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21134721, 21134948], [21136206, 21136628], [21137080, 21137154], [21140194, 21140306]] [[21112165, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21134721, 21134948], [21136206, 21136628], [21137080, 21137154], [21140194, 21140306]]
ENST00000587163 [[21113165, 21113481], [21114409, 21114524]] None
ENST00000591955 [[21116663, 21116840], [21118505, 21118889]] None
ENST00000591075 [[21116705, 21116840], [21118505, 21118635], [21119318, 21119862]] None
ENST00000540608 [[21119693, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21127969, 21128072], [21131590, 21131691], [21134721, 21134948], [21136206, 21136577], [21137080, 21137154], [21140194, 21140444], [21141323, 21141491], [21148786, 21148962], [21166250, 21166451]] None
ENST00000586718 [[21119786, 21119965], [21120411, 21120501], [21121031, 21121336]] None
ENST00000590301 [[21131509, 21131691], [21134721, 21134949]] None
ENST00000587223 [[21153415, 21153538], [21156444, 21156911]] None
NM_000271 [[21111462, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21127969, 21128072], [21131590, 21131691], [21134721, 21134948], [21136206, 21136577], [21137080, 21137154], [21140194, 21140444], [21141323, 21141491], [21148786, 21148962], [21152037, 21152144], [21153415, 21153538], [21166250, 21166581]] [[21112165, 21112248], [21113318, 21113481], [21114409, 21114523], [21115432, 21115664], [21116636, 21116840], [21118505, 21118635], [21119318, 21119434], [21119774, 21119965], [21120411, 21120501], [21121031, 21121172], [21121269, 21121397], [21123418, 21123533], [21124307, 21124490], [21124923, 21125113], [21127969, 21128072], [21131590, 21131691], [21134721, 21134948], [21136206, 21136577], [21137080, 21137154], [21140194, 21140444], [21141323, 21141491], [21148786, 21148962], [21152037, 21152144], [21153415, 21153538], [21166250, 21166307]]
Promoter
Chrom Start End Description
chr18 21166386 21166479 CAGE_peak_1_at_NPC1_5end
chr18 21166649 21166681 CAGE_peak_4_at_NPC1_5end
chr18 21166736 21166756 CAGE_peak_6_at_NPC1_5end
chr18 21166757 21166776 CAGE_peak_5_at_NPC1_5end
chr18 21166841 21166864 CAGE_peak_3_at_NPC1_5end
chr18 21166865 21166956 CAGE_peak_2_at_NPC1_5end