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
ENST00000467506 [[49158546, 49159025], [49159116, 49159293], [49159376, 49159409]] None
ENST00000418109 [[49158546, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49159803], [49160136, 49160485], [49160564, 49160806], [49160879, 49161064], [49161160, 49161533], [49161622, 49161719], [49161827, 49162045], [49162133, 49162358], [49162438, 49162602], [49162685, 49162917], [49163179, 49163323], [49163399, 49163592], [49163797, 49163930], [49165890, 49166018], [49166093, 49166252], [49166452, 49166585], [49166677, 49166757], [49167036, 49167149], [49167271, 49167451], [49167663, 49167852], [49168172, 49168293], [49168382, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169622], [49169702, 49169838], [49169923, 49170096], [49170224, 49170301], [49170387, 49170551]] [[49158658, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49159803], [49160136, 49160485], [49160564, 49160806], [49160879, 49161064], [49161160, 49161533], [49161622, 49161719], [49161827, 49162045], [49162133, 49162358], [49162438, 49162602], [49162685, 49162917], [49163179, 49163323], [49163399, 49163592], [49163797, 49163930], [49165890, 49166018], [49166093, 49166252], [49166452, 49166585], [49166677, 49166757], [49167036, 49167149], [49167271, 49167451], [49167663, 49167852], [49168172, 49168293], [49168382, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169622], [49169702, 49169838], [49169923, 49170096]]
ENST00000484713 [[49158547, 49158795], [49158865, 49159029]] None
ENST00000305544 [[49158565, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49159803], [49160136, 49160485], [49160564, 49160806], [49160879, 49161064], [49161160, 49161533], [49161622, 49161719], [49161827, 49162045], [49162133, 49162358], [49162438, 49162602], [49162685, 49162917], [49163179, 49163323], [49163399, 49163592], [49163797, 49163930], [49165890, 49166018], [49166093, 49166252], [49166452, 49166585], [49166677, 49166757], [49167036, 49167149], [49167271, 49167451], [49167663, 49167852], [49168172, 49168293], [49168382, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169622], [49169702, 49169838], [49169923, 49170096], [49170224, 49170453]] [[49158658, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49159803], [49160136, 49160485], [49160564, 49160806], [49160879, 49161064], [49161160, 49161533], [49161622, 49161719], [49161827, 49162045], [49162133, 49162358], [49162438, 49162602], [49162685, 49162917], [49163179, 49163323], [49163399, 49163592], [49163797, 49163930], [49165890, 49166018], [49166093, 49166252], [49166452, 49166585], [49166677, 49166757], [49167036, 49167149], [49167271, 49167451], [49167663, 49167852], [49168172, 49168293], [49168382, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169622], [49169702, 49169838], [49169923, 49170096], [49170224, 49170300]]
ENST00000498377 [[49158689, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49160031]] None
ENST00000469665 [[49159926, 49160806], [49160879, 49161064], [49161160, 49161187]] None
ENST00000477225 [[49160757, 49161064], [49161160, 49161388]] None
ENST00000480640 [[49161152, 49161533], [49161622, 49161719], [49161827, 49161912]] None
ENST00000538659 [[49161391, 49161533], [49161622, 49162056]] None
ENST00000542580 [[49161875, 49162045], [49162133, 49162358], [49162438, 49162637]] None
ENST00000462930 [[49162113, 49162358], [49162438, 49162602], [49162685, 49162812]] None
ENST00000464891 [[49162243, 49162358], [49162438, 49162602], [49162701, 49163154]] None
ENST00000483057 [[49162284, 49162358], [49162438, 49162602], [49162685, 49163005]] None
ENST00000486298 [[49162437, 49162602], [49163399, 49163592], [49163797, 49163930], [49165890, 49165989]] None
ENST00000477701 [[49162719, 49162917], [49163179, 49163323], [49163399, 49163616]] None
ENST00000493571 [[49162972, 49163323], [49163399, 49163592], [49163797, 49163858]] None
ENST00000488638 [[49163795, 49163930], [49165890, 49166018], [49166093, 49166173]] None
ENST00000483321 [[49166005, 49166252], [49166452, 49166585], [49166677, 49166705]] None
ENST00000494831 [[49168397, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169587], [49170387, 49170489]] [[49168397, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169560]]
NM_002292 [[49158546, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49159803], [49160136, 49160485], [49160564, 49160806], [49160879, 49161064], [49161160, 49161533], [49161622, 49161719], [49161827, 49162045], [49162133, 49162358], [49162438, 49162602], [49162685, 49162917], [49163179, 49163323], [49163399, 49163592], [49163797, 49163930], [49165890, 49166018], [49166093, 49166252], [49166452, 49166585], [49166677, 49166757], [49167036, 49167149], [49167271, 49167451], [49167663, 49167852], [49168172, 49168293], [49168382, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169622], [49169702, 49169838], [49169923, 49170096], [49170224, 49170599]] [[49158658, 49158795], [49158865, 49159025], [49159116, 49159293], [49159376, 49159518], [49159595, 49159803], [49160136, 49160485], [49160564, 49160806], [49160879, 49161064], [49161160, 49161533], [49161622, 49161719], [49161827, 49162045], [49162133, 49162358], [49162438, 49162602], [49162685, 49162917], [49163179, 49163323], [49163399, 49163592], [49163797, 49163930], [49165890, 49166018], [49166093, 49166252], [49166452, 49166585], [49166677, 49166757], [49167036, 49167149], [49167271, 49167451], [49167663, 49167852], [49168172, 49168293], [49168382, 49168585], [49168811, 49168875], [49168967, 49169156], [49169548, 49169622], [49169702, 49169838], [49169923, 49170096], [49170224, 49170300]]
Promoter
Chrom Start End Description
chr3 49170381 49170392 CAGE_peak_3_at_LAMB2_5end
chr3 49170405 49170517 CAGE_peak_1_at_LAMB2_5end
chr3 49170522 49170530 CAGE_peak_7_at_LAMB2_5end