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
ENST00000551194 [[49687034, 49687324], [49687506, 49687780]] None
ENST00000257860 [[49687484, 49689528], [49689960, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692070, 49692465]] [[49688983, 49689528], [49689960, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692070, 49692136]]
ENST00000451891 [[49689144, 49689325], [49689421, 49689528], [49689960, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691021]] [[49689226, 49689325], [49689421, 49689528], [49689960, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691021]]
ENST00000533401 [[49689533, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691056], [49691139, 49691207]] None
ENST00000537252 [[49689548, 49689658], [49689960, 49690021], [49690214, 49690673]] None
ENST00000532332 [[49690784, 49690839], [49690930, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692067, 49692375]] [[49690784, 49690839], [49690930, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692067, 49692136]]
ENST00000530631 [[49690903, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692070, 49692431]] None
NM_006262 [[49688908, 49689528], [49689960, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692070, 49692481]] [[49688983, 49689528], [49689960, 49690021], [49690214, 49690310], [49690671, 49690839], [49690930, 49691056], [49691139, 49691360], [49691459, 49691509], [49691740, 49691820], [49692070, 49692136]]
Promoter
Chrom Start End Description
chr12 49687394 49687406 CAGE_peak_6_at_PRPH_5end
chr12 49687425 49687439 CAGE_peak_5_at_PRPH_5end
chr12 49688923 49688936 CAGE_peak_1_at_PRPH_5end
chr12 49689447 49689456 CAGE_peak_14_at_PRPH_5end
chr12 49689478 49689514 CAGE_peak_2_at_PRPH_5end