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
ENST00000393892 [[40118758, 40118905], [40120085, 40120758], [40123909, 40124049], [40125492, 40129749]] [[40118902, 40118905], [40120085, 40120758], [40123909, 40124049], [40125492, 40125942]]
ENST00000472031 [[40118780, 40118905], [40123909, 40124049], [40125492, 40126246]] [[40118902, 40118905], [40123909, 40124049], [40125492, 40125499]]
ENST00000591945 [[40118812, 40118905], [40119710, 40120193]] None
ENST00000591072 [[40118812, 40118905], [40123909, 40124049], [40125492, 40126289]] [[40123938, 40124049], [40125492, 40125942]]
ENST00000592446 [[40118815, 40118905], [40119710, 40119771], [40120085, 40120521]] None
ENST00000587679 [[40118815, 40118905], [40120196, 40120687]] [[40118902, 40118905], [40120196, 40120687]]
ENST00000393888 [[40118832, 40118905], [40120090, 40120758], [40123909, 40124049], [40125492, 40127194]] [[40120142, 40120758], [40123909, 40124049], [40125492, 40125942]]
ENST00000441615 [[40118899, 40119031], [40120085, 40120575]] [[40120142, 40120575]]
ENST00000589772 [[40119350, 40119447], [40120085, 40120504]] [[40120142, 40120504]]
ENST00000585452 [[40119800, 40119971], [40120085, 40120603]] [[40120142, 40120603]]
ENST00000592861 [[40122298, 40123815]] None
ENST00000592105 [[40123305, 40123394], [40123909, 40124049], [40125492, 40125835]] None
ENST00000486438 [[40123626, 40124049], [40125492, 40125980]] None
NM_033133 [[40118758, 40118905], [40120085, 40120758], [40123909, 40124049], [40125492, 40129754]] [[40118902, 40118905], [40120085, 40120758], [40123909, 40124049], [40125492, 40125942]]
NM_001330216 [[40119735, 40119971], [40120085, 40120758], [40123909, 40124049], [40125492, 40129758]] [[40120142, 40120758], [40123909, 40124049], [40125492, 40125942]]
Promoter
Chrom Start End Description
chr17 40118761 40118772 CAGE_peak_3_at_CNP_5end
chr17 40118773 40118793 CAGE_peak_2_at_CNP_5end
chr17 40118805 40118822 CAGE_peak_1_at_CNP_5end
chr17 40120071 40120085 CAGE_peak_15_at_CNP_5end
chr17 40120380 40120452 CAGE_peak_4_at_CNP_5end
chr17 40120535 40120558 CAGE_peak_5_at_CNP_5end
chr17 40120590 40120606 CAGE_peak_10_at_CNP_5end
chr17 40123919 40123952 CAGE_peak_6_at_CNP_5end
chr17 40127114 40127154 CAGE_peak_7_at_CNP_5end