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
ENST00000458420 [[139654026, 139654325], [139894792, 139894915], [140122470, 140122666], [140123399, 140123608], [140139966, 140140116], [140167360, 140167546], [140178362, 140178611], [140185451, 140185573], [140251165, 140251328], [140265356, 140265523], [140275354, 140275503], [140277481, 140277699], [140280979, 140281150], [140281652, 140281798], [140281921, 140282045], [140282802, 140282987], [140284894, 140296239]] [[139654216, 139654325], [139894792, 139894915], [140122470, 140122666], [140123399, 140123608], [140139966, 140140116], [140167360, 140167546], [140178362, 140178611], [140185451, 140185573], [140251165, 140251328], [140265356, 140265523], [140275354, 140275503], [140277481, 140277699], [140280979, 140281150], [140281652, 140281798], [140281921, 140282045], [140282802, 140282987], [140284894, 140285095]]
ENST00000511524 [[139654028, 139654325], [139894792, 139894915], [140122470, 140122666], [140123399, 140123608], [140139966, 140140116], [140167360, 140167546], [140178362, 140178611], [140185451, 140185573], [140251165, 140251328], [140265356, 140265523], [140275354, 140275897]] None
NM_022131 [[139654026, 139654325], [139894792, 139894915], [140122470, 140122666], [140123399, 140123608], [140139966, 140140116], [140167360, 140167546], [140178362, 140178611], [140185451, 140185573], [140251165, 140251328], [140265356, 140265523], [140275354, 140275503], [140277481, 140277699], [140280979, 140281150], [140281652, 140281798], [140281921, 140282045], [140282802, 140282987], [140284894, 140286919]] [[139654216, 139654325], [139894792, 139894915], [140122470, 140122666], [140123399, 140123608], [140139966, 140140116], [140167360, 140167546], [140178362, 140178611], [140185451, 140185573], [140251165, 140251328], [140265356, 140265523], [140275354, 140275503], [140277481, 140277699], [140280979, 140281150], [140281652, 140281798], [140281921, 140282045], [140282802, 140282987], [140284894, 140285095]]
Promoter
Chrom Start End Description
chr3 139654000 139654011 CAGE_peak_2_at_CLSTN2_5end
chr3 139654018 139654039 CAGE_peak_1_at_CLSTN2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I140245 140245079 140245208 0.2 [{'connected_gene': 'COPB2', 'score': 4.02}, {'connected_gene': 'GC03P140312', 'score': 0.2}, {'connected_gene': 'GC03P140133', 'score': 0.14}, {'connected_gene': 'GC03P140132', 'score': 0.14}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I139771 139771673 139775973 1.02 [{'connected_gene': 'CLSTN2', 'score': 8.53}, {'connected_gene': 'LOC100507291', 'score': 4.37}, {'connected_gene': 'ENSG00000251471', 'score': 0.21}, {'connected_gene': 'GC03P139691', 'score': 0.18}, {'connected_gene': 'PIR55855', 'score': 0.18}]
chr3 GH03I139934 139934784 139934788 0.75 [{'connected_gene': 'CLSTN2', 'score': 550.77}, {'connected_gene': 'GC03P139907', 'score': 0.31}, {'connected_gene': 'GC03P139858', 'score': 0.18}, {'connected_gene': 'GC03M139907', 'score': 0.17}]
chr3 GH03I140205 140203467 140203494 0.76 [{'connected_gene': 'CLSTN2', 'score': 15.57}, {'connected_gene': 'GC03P140133', 'score': 0.19}, {'connected_gene': 'GC03P140132', 'score': 0.19}, {'connected_gene': 'GC03P140312', 'score': 0.14}]
chr3 GH03I139952 139952782 139954021 0.43 [{'connected_gene': 'CLSTN2', 'score': 0.37}, {'connected_gene': 'GC03P139907', 'score': 0.25}, {'connected_gene': 'GC03M139907', 'score': 0.2}, {'connected_gene': 'GC03P139858', 'score': 0.16}]
chr3 GH03I139935 139934800 139935401 1.61 [{'connected_gene': 'CLSTN2', 'score': 561.61}, {'connected_gene': 'GC03P139907', 'score': 0.31}, {'connected_gene': 'GC03P139858', 'score': 0.18}, {'connected_gene': 'GC03M139907', 'score': 0.17}]
chr3 GH03I139763 139763898 139765802 0.4 [{'connected_gene': 'NMNAT3', 'score': 5.91}, {'connected_gene': 'CLSTN2', 'score': 4.7}, {'connected_gene': 'ENSG00000251471', 'score': 0.19}, {'connected_gene': 'GC03P139691', 'score': 0.19}, {'connected_gene': 'PIR55855', 'score': 0.19}]
chr3 GH03I140509 140509699 140509848 0.2 [{'connected_gene': 'CLSTN2-AS1', 'score': 550.77}, {'connected_gene': 'GC03P140509', 'score': 550.77}, {'connected_gene': 'ENSG00000249290', 'score': 9.77}, {'connected_gene': 'GC03P140571', 'score': 0.21}, {'connected_gene': 'CLSTN2', 'score': 0.03}]
chr3 GH03I140527 140527732 140531249 0.54 [{'connected_gene': 'CLSTN2-AS1', 'score': 11.8}, {'connected_gene': 'GC03P140509', 'score': 0.37}, {'connected_gene': 'GC03P140571', 'score': 0.26}, {'connected_gene': 'CLSTN2', 'score': 0.03}]
chr3 GH03I140466 140466652 140468180 1.13 [{'connected_gene': 'CLSTN2-AS1', 'score': 10.68}, {'connected_gene': 'ENSG00000251058', 'score': 0.77}, {'connected_gene': 'LOC105374132', 'score': 0.44}, {'connected_gene': 'CLSTN2', 'score': 0.03}]
chr3 GH03I139835 139835342 139837576 0.2 [{'connected_gene': 'ENSG00000251471', 'score': 550.77}, {'connected_gene': 'CLSTN2', 'score': 4.33}, {'connected_gene': 'GC03P139691', 'score': 0.11}, {'connected_gene': 'PIR55855', 'score': 0.11}]
chr3 GH03I140359 140359138 140359495 0.52 [{'connected_gene': 'ENSG00000249290', 'score': 10.26}, {'connected_gene': 'CLSTN2', 'score': 1.96}, {'connected_gene': 'GC03P140378', 'score': 0.37}, {'connected_gene': 'GC03P140312', 'score': 0.25}]
chr3 GH03I139914 139914757 139915126 0.22 [{'connected_gene': 'GC03P139907', 'score': 0.44}, {'connected_gene': 'CLSTN2', 'score': 0.34}, {'connected_gene': 'GC03P139858', 'score': 0.22}, {'connected_gene': 'GC03M139907', 'score': 0.14}]
chr3 GH03I140298 140298519 140298908 0.31 [{'connected_gene': 'GC03P140312', 'score': 0.39}, {'connected_gene': 'GC03P140133', 'score': 0.1}, {'connected_gene': 'GC03P140132', 'score': 0.1}, {'connected_gene': 'CLSTN2', 'score': 0.05}]
chr3 GH03I140384 140384159 140384308 0.31 [{'connected_gene': 'GC03P140378', 'score': 0.44}, {'connected_gene': 'GC03P140419', 'score': 0.28}, {'connected_gene': 'CLSTN2', 'score': 0.05}]
chr3 GH03I140204 140203864 140205984 0.77 [{'connected_gene': 'GC03P140133', 'score': 0.19}, {'connected_gene': 'GC03P140132', 'score': 0.19}, {'connected_gene': 'GC03P140312', 'score': 0.14}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I140420 140420105 140421583 0.31 [{'connected_gene': 'GC03P140419', 'score': 550.77}, {'connected_gene': 'ENSG00000251058', 'score': 10.58}, {'connected_gene': 'ENSG00000249290', 'score': 10.45}, {'connected_gene': 'CLSTN2', 'score': 0.04}]
chr3 GH03I140423 140423401 140424000 0.2 [{'connected_gene': 'ENSG00000249290', 'score': 11.54}, {'connected_gene': 'GC03P140419', 'score': 0.77}, {'connected_gene': 'CLSTN2', 'score': 0.04}]
chr3 GH03I140158 140158607 140159931 0.38 [{'connected_gene': 'GC03P140133', 'score': 0.31}, {'connected_gene': 'GC03P140132', 'score': 0.31}, {'connected_gene': 'GC03P140312', 'score': 0.1}, {'connected_gene': 'CLSTN2', 'score': 0.07}]
chr3 GH03I140185 140185689 140188233 1.07 [{'connected_gene': 'GC03P140133', 'score': 0.23}, {'connected_gene': 'GC03P140132', 'score': 0.23}, {'connected_gene': 'GC03P140312', 'score': 0.13}, {'connected_gene': 'CLSTN2', 'score': 0.07}]
chr3 GH03I140440 140440615 140441694 0.46 [{'connected_gene': 'ENSG00000251058', 'score': 11.71}, {'connected_gene': 'ENSG00000249290', 'score': 0.37}, {'connected_gene': 'GC03P140419', 'score': 0.34}, {'connected_gene': 'CLSTN2', 'score': 0.03}]
chr3 GH03I140203 140203639 140203828 0.79 [{'connected_gene': 'GC03P140133', 'score': 0.19}, {'connected_gene': 'GC03P140132', 'score': 0.19}, {'connected_gene': 'GC03P140312', 'score': 0.14}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I140163 140163532 140168538 0.69 [{'connected_gene': 'GC03P140133', 'score': 0.29}, {'connected_gene': 'GC03P140132', 'score': 0.29}, {'connected_gene': 'GC03P140312', 'score': 0.11}, {'connected_gene': 'CLSTN2', 'score': 0.07}]
chr3 GH03I140394 140394919 140395068 0.2 [{'connected_gene': 'ENSG00000249290', 'score': 11.17}, {'connected_gene': 'GC03P140378', 'score': 0.37}, {'connected_gene': 'GC03P140419', 'score': 0.34}, {'connected_gene': 'CLSTN2', 'score': 0.05}]
chr3 GH03I140242 140242395 140243723 0.62 [{'connected_gene': 'ENSG00000214280', 'score': 10.09}, {'connected_gene': 'GC03P140312', 'score': 0.2}, {'connected_gene': 'GC03P140133', 'score': 0.14}, {'connected_gene': 'GC03P140132', 'score': 0.14}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I140385 140384495 140387274 0.67 [{'connected_gene': 'GC03P140378', 'score': 0.44}, {'connected_gene': 'GC03P140419', 'score': 0.29}, {'connected_gene': 'CLSTN2', 'score': 0.05}]
chr3 GH03I140234 140234018 140234950 0.43 [{'connected_gene': 'GC03P140312', 'score': 0.18}, {'connected_gene': 'GC03P140133', 'score': 0.15}, {'connected_gene': 'GC03P140132', 'score': 0.15}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I140341 140341277 140342979 0.63 [{'connected_gene': 'GC03P140312', 'score': 0.31}, {'connected_gene': 'GC03P140378', 'score': 0.28}, {'connected_gene': 'CLSTN2', 'score': 0.05}]
chr3 GH03I140378 140378363 140379614 0.2 [{'connected_gene': 'GC03P140378', 'score': 550.77}, {'connected_gene': 'GC03P140419', 'score': 0.26}, {'connected_gene': 'CLSTN2', 'score': 0.04}]
chr3 GH03I140160 140160298 140163327 0.64 [{'connected_gene': 'GC03P140133', 'score': 0.31}, {'connected_gene': 'GC03P140132', 'score': 0.31}, {'connected_gene': 'GC03P140312', 'score': 0.1}, {'connected_gene': 'CLSTN2', 'score': 0.07}]
chr3 GH03I140169 140169934 140171478 0.66 [{'connected_gene': 'GC03P140133', 'score': 0.28}, {'connected_gene': 'GC03P140132', 'score': 0.28}, {'connected_gene': 'GC03P140312', 'score': 0.11}, {'connected_gene': 'CLSTN2', 'score': 0.07}]
chr3 GH03I140251 140251859 140252008 0.31 [{'connected_gene': 'GC03P140312', 'score': 0.21}, {'connected_gene': 'GC03P140133', 'score': 0.13}, {'connected_gene': 'GC03P140132', 'score': 0.13}, {'connected_gene': 'CLSTN2', 'score': 0.06}]
chr3 GH03I140523 140523074 140524314 0.2 [{'connected_gene': 'ENSG00000251058', 'score': 9.87}, {'connected_gene': 'GC03P140509', 'score': 0.39}, {'connected_gene': 'GC03P140571', 'score': 0.25}, {'connected_gene': 'CLSTN2', 'score': 0.03}]
chr3 GH03I140291 140291330 140293468 0.2 [{'connected_gene': 'GC03P140312', 'score': 0.34}, {'connected_gene': 'GC03P140133', 'score': 0.1}, {'connected_gene': 'GC03P140132', 'score': 0.1}, {'connected_gene': 'CLSTN2', 'score': 0.05}]