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
ENST00000375759 [[16174358, 16174645], [16199310, 16199631], [16202696, 16203173], [16235815, 16235976], [16237595, 16237796], [16242622, 16242774], [16245420, 16245546], [16245898, 16246012], [16247364, 16247478], [16248743, 16248844], [16254585, 16262761], [16263657, 16264140], [16264306, 16264501], [16265212, 16265371], [16265790, 16266955]] [[16174562, 16174645], [16199310, 16199631], [16202696, 16203173], [16235815, 16235976], [16237595, 16237796], [16242622, 16242774], [16245420, 16245546], [16245898, 16246012], [16247364, 16247478], [16248743, 16248844], [16254585, 16262761], [16263657, 16264140], [16264306, 16264501], [16265212, 16265371], [16265790, 16265922]]
ENST00000471538 [[16199996, 16200890], [16202696, 16203206]] None
ENST00000438066 [[16199996, 16200890], [16202696, 16203173], [16235815, 16235976], [16237595, 16237796]] [[16200609, 16200890], [16202696, 16203173], [16235815, 16235976], [16237595, 16237796]]
ENST00000442985 [[16203070, 16203173], [16235818, 16235976], [16237595, 16237796], [16242622, 16242774], [16245420, 16245546], [16245898, 16246012], [16247364, 16247401]] [[16203070, 16203173], [16235818, 16235976], [16237595, 16237796], [16242622, 16242774], [16245420, 16245546], [16245898, 16246012], [16247364, 16247401]]
ENST00000487496 [[16265077, 16265371], [16265790, 16266039]] None
NM_015001 [[16174358, 16174645], [16199310, 16199631], [16202696, 16203173], [16235815, 16235976], [16237595, 16237796], [16242622, 16242774], [16245420, 16245546], [16245898, 16246012], [16247364, 16247478], [16248743, 16248844], [16254585, 16262761], [16263657, 16264140], [16264306, 16264501], [16265212, 16265371], [16265790, 16266950]] [[16174562, 16174645], [16199310, 16199631], [16202696, 16203173], [16235815, 16235976], [16237595, 16237796], [16242622, 16242774], [16245420, 16245546], [16245898, 16246012], [16247364, 16247478], [16248743, 16248844], [16254585, 16262761], [16263657, 16264140], [16264306, 16264501], [16265212, 16265371], [16265790, 16265922]]
Promoter
Chrom Start End Description
chr1 16174050 16174075 CAGE_peak_7_at_SPEN_5end
chr1 16174193 16174217 CAGE_peak_2_at_SPEN_5end
chr1 16174232 16174245 CAGE_peak_3_at_SPEN_5end
chr1 16174280 16174365 CAGE_peak_1_at_SPEN_5end