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
ENST00000393196 [[49230896, 49231023], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239556]] [[49233015, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239206]]
ENST00000487481 [[49230932, 49231023], [49233011, 49233907]] None
ENST00000336097 [[49230936, 49231023], [49231585, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239422]] [[49231734, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239206]]
ENST00000480143 [[49230938, 49231023], [49231585, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238947]] [[49231734, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238637]]
ENST00000512768 [[49230940, 49231023], [49231585, 49231805], [49233011, 49233141], [49237340, 49237963]] None
ENST00000511355 [[49230941, 49231023], [49233011, 49233141], [49237340, 49237442], [49238458, 49239789]] [[49233015, 49233141], [49237340, 49237442], [49238458, 49238479]]
ENST00000475573 [[49230957, 49231023], [49233011, 49233141], [49237340, 49237442], [49238458, 49238633], [49239088, 49239396]] [[49233015, 49233141], [49237340, 49237442], [49238458, 49238479]]
ENST00000013034 [[49231025, 49231085], [49231585, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239259]] [[49231734, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239206]]
ENST00000456492 [[49231404, 49231805], [49233011, 49233120]] [[49231734, 49231805], [49233011, 49233120]]
ENST00000465188 [[49231697, 49231805], [49233011, 49233424]] None
NM_000269 [[49230919, 49231023], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239450]] [[49233015, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239206]]
NM_198175 [[49230919, 49231023], [49231585, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239450]] [[49231734, 49231805], [49233011, 49233141], [49237340, 49237442], [49238520, 49238633], [49239088, 49239206]]
Promoter
Chrom Start End Description
chr17 49230905 49231005 CAGE_peak_1_at_NME1_5end,CAGE_peak_3_at_NME1-NME2_5end,CAGE_peak_3_at_NME2_5end
chr17 49232982 49233016 CAGE_peak_2_at_NME1_5end