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
ENST00000391973 [[242254514, 242255025], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293439]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
ENST00000492978 [[242254684, 242255025], [242263630, 242263656], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277149]] None
ENST00000428282 [[242254684, 242255025], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282485]] [[242265518, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282485]]
ENST00000360051 [[242254703, 242255025], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293439]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
ENST00000428524 [[242254769, 242255025], [242255836, 242255955], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274561]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274561]]
ENST00000445030 [[242254769, 242255025], [242259617, 242259702], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627]]
ENST00000407017 [[242254769, 242255025], [242265407, 242265528], [242274540, 242274627], [242275389, 242275575]] [[242265518, 242265528], [242274540, 242274627], [242275389, 242275575]]
ENST00000469434 [[242254861, 242255025], [242265407, 242265528], [242274540, 242274627], [242275373, 242275513], [242276796, 242276867]] None
ENST00000495463 [[242255275, 242255397], [242263630, 242263656], [242274540, 242274627], [242275389, 242275513], [242276199, 242276341]] None
ENST00000391971 [[242255275, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
ENST00000482304 [[242255278, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242275014]] None
ENST00000475474 [[242255289, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275796]] None
ENST00000469175 [[242255296, 242255397], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277126]] None
ENST00000401990 [[242255296, 242255397], [242255836, 242255955], [242256913, 242257014], [242257651, 242257759], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242274736, 242274766], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242291524]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242274736, 242274766], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
ENST00000407971 [[242255297, 242255397], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242265518, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
ENST00000461048 [[242255308, 242255397], [242255844, 242255955], [242256913, 242257014], [242263630, 242263656], [242263823, 242264659]] None
ENST00000457335 [[242255315, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275373, 242275513], [242276796, 242276910]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275373, 242275399]]
ENST00000436795 [[242255319, 242255397], [242255836, 242255970], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276900]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276900]]
ENST00000411484 [[242255320, 242255397], [242259617, 242259702], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276863]] [[242259660, 242259702], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276863]]
ENST00000494824 [[242255320, 242255397], [242274540, 242274627], [242275373, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282414]] None
ENST00000462147 [[242255327, 242255397], [242263630, 242263656], [242274540, 242274627], [242275373, 242275513], [242276796, 242276931], [242277087, 242277205]] None
ENST00000434955 [[242255335, 242255397], [242259617, 242259702], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275488]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275488]]
ENST00000466211 [[242255338, 242255397], [242263630, 242263656], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282441]] None
ENST00000402092 [[242255342, 242255397], [242259617, 242259702], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
ENST00000484740 [[242255349, 242255397], [242274540, 242275055]] None
ENST00000473479 [[242255350, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275373, 242275751]] None
ENST00000441533 [[242255358, 242255397], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274625]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274625]]
ENST00000464128 [[242255358, 242255397], [242263630, 242263656], [242274540, 242274627], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283224]] None
ENST00000425899 [[242255360, 242255397], [242256913, 242257014], [242263630, 242263656], [242263823, 242264077], [242265407, 242265528], [242274540, 242274627], [242275373, 242275485]] [[242263647, 242263656], [242263823, 242264039]]
ENST00000467971 [[242255360, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276972]] None
ENST00000443492 [[242255365, 242255397], [242263630, 242263656], [242265381, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277094]] [[242265518, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277094]]
ENST00000437066 [[242255367, 242255397], [242255836, 242255970], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276848]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276848]]
ENST00000484648 [[242255373, 242255397], [242255836, 242255990], [242256913, 242256953]] None
ENST00000429791 [[242255417, 242255955], [242256913, 242257014], [242263630, 242263656], [242265407, 242265466]] [[242263647, 242263656], [242265407, 242265466]]
ENST00000420786 [[242255584, 242255730], [242255836, 242255955], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274566]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274566]]
ENST00000475823 [[242255897, 242255965], [242263630, 242263656], [242274540, 242274627], [242275389, 242275513], [242276796, 242276862]] None
ENST00000449239 [[242263568, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277131]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277131]]
ENST00000366210 [[242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276199, 242276513]] None
ENST00000457874 [[242275257, 242275513], [242276796, 242276931], [242277087, 242277180]] [[242275257, 242275513], [242276796, 242276931], [242277087, 242277180]]
ENST00000476841 [[242275360, 242275513], [242276796, 242276947]] None
ENST00000484167 [[242276725, 242277205], [242282406, 242282508], [242283166, 242283252]] None
ENST00000421717 [[242276890, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242287548, 242287606], [242289487, 242289618], [242291381, 242291603]] [[242276890, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242287548, 242287606], [242289487, 242289589]]
ENST00000481500 [[242277134, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242286017]] None
ENST00000451310 [[242289501, 242289618], [242291357, 242292041]] [[242289501, 242289589]]
NM_006155 [[242254601, 242255025], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001008491 [[242254601, 242255025], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_004404 [[242255275, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321032 [[242255275, 242255397], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291357, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001008492 [[242255275, 242255397], [242259617, 242259702], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321035 [[242255275, 242255397], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321029 [[242255275, 242255397], [242255836, 242255955], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242255882, 242255955], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321031 [[242255275, 242255397], [242255836, 242255955], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001282973 [[242255275, 242255397], [242255836, 242255955], [242256913, 242257014], [242257651, 242257759], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242274736, 242274766], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242274736, 242274766], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001282972 [[242255275, 242255397], [242255836, 242255970], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242255882, 242255970], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321034 [[242255275, 242255397], [242255836, 242255970], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321030 [[242255592, 242255730], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
NM_001321033 [[242255592, 242255730], [242255836, 242255955], [242256913, 242257014], [242263630, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289618], [242291381, 242293442]] [[242263647, 242263656], [242265407, 242265528], [242274540, 242274627], [242275389, 242275513], [242276796, 242276931], [242277087, 242277205], [242282406, 242282508], [242283166, 242283312], [242285580, 242285664], [242287548, 242287606], [242289487, 242289589]]
Promoter
Chrom Start End Description
chr2 242254507 242254532 CAGE_peak_28_at_SEPT2_5end
chr2 242254679 242254717 CAGE_peak_3_at_SEPT2_5end
chr2 242254727 242254744 CAGE_peak_4_at_SEPT2_5end
chr2 242254751 242254752 CAGE_peak_17_at_SEPT2_5end
chr2 242254753 242254810 CAGE_peak_2_at_SEPT2_5end
chr2 242254828 242254833 CAGE_peak_13_at_SEPT2_5end
chr2 242254853 242254867 CAGE_peak_7_at_SEPT2_5end
chr2 242254932 242254943 CAGE_peak_15_at_SEPT2_5end
chr2 242255275 242255286 CAGE_peak_6_at_SEPT2_5end
chr2 242255298 242255378 CAGE_peak_1_at_SEPT2_5end
chr2 242255573 242255606 CAGE_peak_5_at_SEPT2_5end
chr2 242265443 242265466 CAGE_peak_11_at_SEPT2_5end
chr2 242275442 242275457 CAGE_peak_10_at_SEPT2_5end
chr2 242277086 242277120 CAGE_peak_8_at_SEPT2_5end

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