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
ENST00000380877 [[50569388, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647605]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
ENST00000220429 [[50569459, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647350]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
ENST00000543881 [[50570598, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50647181, 50647321]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596210]]
ENST00000429662 [[50578076, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647350]] [[50578216, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
ENST00000396464 [[50578076, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647395]] [[50578216, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
ENST00000359031 [[50578078, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50638568, 50638592], [50647181, 50647605]] [[50578216, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
ENST00000560825 [[50578090, 50578380], [50581679, 50581862], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50638568, 50638592], [50647181, 50647399]] [[50578216, 50578380], [50581679, 50581862], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
ENST00000559100 [[50593309, 50593565], [50596162, 50596196]] None
ENST00000561010 [[50570738, 50570981], [50574475, 50574588], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593512]] [[50574489, 50574588], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593512]]
ENST00000558335 [[50596169, 50596330], [50601887, 50601995], [50619389, 50619526]] [[50596169, 50596330], [50601887, 50601995]]
ENST00000558970 [[50596170, 50596330], [50601887, 50601995], [50606612, 50606867], [50647181, 50647388]] [[50596170, 50596330], [50601887, 50601995]]
NM_005254 [[50569388, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647605]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
NM_016654 [[50569388, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647605]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
NM_001320910 [[50569388, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50638568, 50638592], [50647181, 50647626]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
NM_001320915 [[50569388, 50570981], [50578264, 50578380], [50581679, 50581862], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50638568, 50638592], [50647181, 50647626]] [[50570828, 50570981], [50578264, 50578380], [50581679, 50581862], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
NM_181427 [[50578076, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50638568, 50638592], [50647181, 50647605]] [[50578216, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
NM_002041 [[50578076, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647605]] [[50578216, 50578380], [50581679, 50581865], [50592985, 50593099], [50593417, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
NM_016655 [[50578076, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995], [50647181, 50647605]] [[50578216, 50578380], [50581679, 50581865], [50592985, 50593099], [50593453, 50593565], [50595125, 50595320], [50596162, 50596330], [50601887, 50601995]]
Promoter
Chrom Start End Description
chr15 50647274 50647336 CAGE_peak_1_at_GABPB1_5end
chr15 50647347 50647366 CAGE_peak_3_at_GABPB1_5end
chr15 50647370 50647405 CAGE_peak_2_at_GABPB1_5end