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
ENST00000369023 [[123716602, 123716774], [123718838, 123718925], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734732]] [[123718850, 123718925], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734680]]
ENST00000489266 [[123716655, 123716774], [123718838, 123718925], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123721355, 123721622], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123734731]] None
ENST00000468209 [[123718879, 123718925], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733800]] None
ENST00000538652 [[123719612, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123733820, 123734273]] [[123719864, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730477]]
ENST00000369017 [[123721271, 123721622], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734709]] [[123721515, 123721622], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734680]]
ENST00000464321 [[123724857, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123733904, 123734322]] None
ENST00000481320 [[123726892, 123727321], [123730453, 123730584], [123733518, 123734303]] None
ENST00000472431 [[123727160, 123727321], [123730453, 123730584], [123733518, 123733596], [123733820, 123734269]] None
ENST00000465189 [[123727207, 123727321], [123730453, 123730530], [123734388, 123734637]] None
ENST00000459911 [[123716605, 123716774], [123718838, 123718925], [123719015, 123719300]] None
ENST00000477289 [[123716605, 123716774], [123718838, 123719312]] None
ENST00000483541 [[123719432, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724819]] None
NM_017615 [[123716602, 123716774], [123718838, 123718925], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734743]] [[123718850, 123718925], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734680]]
NM_001167865 [[123716602, 123716774], [123718838, 123718922], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734743]] [[123718850, 123718922], [123719015, 123719110], [123719872, 123719921], [123720937, 123721032], [123722752, 123722843], [123724800, 123724900], [123727169, 123727321], [123730453, 123730584], [123733518, 123733596], [123734388, 123734680]]
Promoter
Chrom Start End Description
chr10 123734683 123734738 CAGE_peak_1_at_NSMCE4A_5end
chr10 123734766 123734779 CAGE_peak_2_at_NSMCE4A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I121332 121332379 121334136 0.63 [{'connected_gene': 'WDR11', 'score': 34.68}, {'connected_gene': 'NSMCE4A', 'score': 11.67}, {'connected_gene': 'RPL21P16', 'score': 11.0}, {'connected_gene': 'ATE1-AS1', 'score': 10.65}, {'connected_gene': 'LOC105378523', 'score': 0.39}, {'connected_gene': 'GC10M121343', 'score': 0.34}]
chr10 GH10I121521 121521880 121522479 0.43 [{'connected_gene': 'WDR11', 'score': 17.03}, {'connected_gene': 'NSMCE4A', 'score': 11.69}, {'connected_gene': 'FGFR2', 'score': 10.57}, {'connected_gene': 'RN7SKP167', 'score': 0.14}]
chr10 GH10I121307 121307208 121310316 0.97 [{'connected_gene': 'WDR11', 'score': 46.47}, {'connected_gene': 'NSMCE4A', 'score': 11.77}, {'connected_gene': 'ATE1', 'score': 9.92}, {'connected_gene': 'LOC105378523', 'score': 0.39}, {'connected_gene': 'GC10M121233', 'score': 0.22}]
chr10 GH10I121497 121497119 121505197 0.91 [{'connected_gene': 'WDR11', 'score': 69.48}, {'connected_gene': 'NSMCE4A', 'score': 25.28}, {'connected_gene': 'RN7SKP167', 'score': 0.16}, {'connected_gene': 'FGFR2', 'score': 0.15}]
chr10 GH10I121095 121095834 121098521 0.76 [{'connected_gene': 'NSMCE4A', 'score': 5.04}, {'connected_gene': 'WDR11', 'score': 4.78}, {'connected_gene': 'LOC105378521', 'score': 0.37}, {'connected_gene': 'LOC105378522', 'score': 0.29}]
chr10 GH10I122126 122126182 122129062 1.16 [{'connected_gene': 'NSMCE4A', 'score': 12.39}, {'connected_gene': 'TACC2', 'score': 8.68}, {'connected_gene': 'GC10P122094', 'score': 0.29}, {'connected_gene': 'GC10M122162', 'score': 0.28}]
chr10 GH10I122138 122138534 122143872 1.56 [{'connected_gene': 'NSMCE4A', 'score': 11.84}, {'connected_gene': 'TACC2', 'score': 1.83}, {'connected_gene': 'GC10M122162', 'score': 0.34}, {'connected_gene': 'GC10P122094', 'score': 0.25}]
chr10 GH10I121983 121983446 121984685 0.49 [{'connected_gene': 'NSMCE4A', 'score': 13.97}, {'connected_gene': 'TACC2', 'score': 0.44}]
chr10 GH10I122035 122034286 122034475 0.72 [{'connected_gene': 'NSMCE4A', 'score': 6.22}, {'connected_gene': 'GC10M122037', 'score': 0.77}, {'connected_gene': 'PIR33240', 'score': 0.39}, {'connected_gene': 'TACC2', 'score': 0.25}]
chr10 GH10I122007 122007704 122008270 0.56 [{'connected_gene': 'NSMCE4A', 'score': 17.09}, {'connected_gene': 'ATE1-AS1', 'score': 13.35}, {'connected_gene': 'ATE1', 'score': 9.28}, {'connected_gene': 'PIR33240', 'score': 0.39}, {'connected_gene': 'TACC2', 'score': 0.37}]
chr10 GH10I121900 121900646 121900815 0.72 [{'connected_gene': 'NSMCE4A', 'score': 12.21}, {'connected_gene': 'ATE1-AS1', 'score': 11.79}, {'connected_gene': 'ATE1', 'score': 11.79}, {'connected_gene': 'GC10M121896', 'score': 0.44}, {'connected_gene': 'GC10M121895', 'score': 0.44}, {'connected_gene': 'GC10M121883', 'score': 0.39}]
chr10 GH10I122031 122031859 122032901 0.31 [{'connected_gene': 'NSMCE4A', 'score': 6.23}, {'connected_gene': 'ATE1-AS1', 'score': 4.79}, {'connected_gene': 'GC10M122037', 'score': 0.44}, {'connected_gene': 'PIR33240', 'score': 0.39}, {'connected_gene': 'TACC2', 'score': 0.26}]
chr10 GH10I122028 122028966 122031636 0.49 [{'connected_gene': 'NSMCE4A', 'score': 7.26}, {'connected_gene': 'ATE1-AS1', 'score': 6.49}, {'connected_gene': 'GC10M122037', 'score': 0.44}, {'connected_gene': 'PIR33240', 'score': 0.39}, {'connected_gene': 'TACC2', 'score': 0.26}]
chr10 GH10I121973 121973938 121975880 1.97 [{'connected_gene': 'NSMCE4A', 'score': 576.05}, {'connected_gene': 'ATE1-AS1', 'score': 11.01}, {'connected_gene': 'ENSG00000273891', 'score': 0.44}]
chr10 GH10I122306 122306131 122312676 1.68 [{'connected_gene': 'BTBD16', 'score': 19.71}, {'connected_gene': 'IKZF5', 'score': 10.82}, {'connected_gene': 'BUB3', 'score': 10.44}, {'connected_gene': 'NSMCE4A', 'score': 10.39}, {'connected_gene': 'GC10P122346', 'score': 0.28}]
chr10 GH10I121910 121910246 121911751 0.65 [{'connected_gene': 'ATE1', 'score': 14.0}, {'connected_gene': 'NSMCE4A', 'score': 12.11}, {'connected_gene': 'ATE1-AS1', 'score': 10.71}, {'connected_gene': 'GC10M121896', 'score': 0.77}, {'connected_gene': 'GC10M121895', 'score': 0.77}, {'connected_gene': 'GC10M121913', 'score': 0.44}]
chr10 GH10I121890 121890535 121891955 0.56 [{'connected_gene': 'ATE1', 'score': 13.64}, {'connected_gene': 'NSMCE4A', 'score': 12.23}, {'connected_gene': 'ENSG00000224250', 'score': 10.73}, {'connected_gene': 'GC10M121883', 'score': 0.44}, {'connected_gene': 'GC10M121896', 'score': 0.37}, {'connected_gene': 'GC10M121895', 'score': 0.37}]
chr10 GH10I121987 121987746 121989612 1.33 [{'connected_gene': 'TACC2', 'score': 550.77}, {'connected_gene': 'NSMCE4A', 'score': 12.97}, {'connected_gene': 'ATE1', 'score': 8.22}, {'connected_gene': 'ATE1-AS1', 'score': 7.66}]
chr10 GH10I121990 121990171 121991055 0.63 [{'connected_gene': 'TACC2', 'score': 550.77}, {'connected_gene': 'ATE1-AS1', 'score': 16.08}, {'connected_gene': 'NSMCE4A', 'score': 10.37}, {'connected_gene': 'PIR33240', 'score': 0.31}]
chr10 GH10I121993 121993508 121996801 1.55 [{'connected_gene': 'TACC2', 'score': 550.44}, {'connected_gene': 'ATE1-AS1', 'score': 16.75}, {'connected_gene': 'NSMCE4A', 'score': 9.86}, {'connected_gene': 'PIR33240', 'score': 0.34}]
chr10 GH10I121323 121322379 121327174 0.94 [{'connected_gene': 'LOC105378523', 'score': 550.77}, {'connected_gene': 'WDR11', 'score': 17.62}, {'connected_gene': 'NSMCE4A', 'score': 10.36}, {'connected_gene': 'GC10M121343', 'score': 0.29}]
chr10 GH10I121998 121998530 122000162 0.51 [{'connected_gene': 'ATE1-AS1', 'score': 9.96}, {'connected_gene': 'NSMCE4A', 'score': 9.77}, {'connected_gene': 'ATE1', 'score': 5.63}, {'connected_gene': 'TACC2', 'score': 0.39}, {'connected_gene': 'PIR33240', 'score': 0.34}]
chr10 GH10I122014 122014547 122015595 0.66 [{'connected_gene': 'ATE1-AS1', 'score': 14.39}, {'connected_gene': 'NSMCE4A', 'score': 8.89}, {'connected_gene': 'PIR33240', 'score': 0.77}, {'connected_gene': 'TACC2', 'score': 0.31}]
chr10 GH10I122012 122012640 122014166 0.87 [{'connected_gene': 'ATE1-AS1', 'score': 14.16}, {'connected_gene': 'NSMCE4A', 'score': 8.9}, {'connected_gene': 'PIR33240', 'score': 0.44}, {'connected_gene': 'TACC2', 'score': 0.34}]
chr10 GH10I121926 121926180 121931429 2.25 [{'connected_gene': 'ATE1-AS1', 'score': 606.37}, {'connected_gene': 'ATE1', 'score': 562.78}, {'connected_gene': 'GC10M121925', 'score': 550.77}, {'connected_gene': 'NSMCE4A', 'score': 14.05}, {'connected_gene': 'GC10P121933', 'score': 0.77}]
chr10 GH10I121942 121942406 121943746 0.8 [{'connected_gene': 'GC10M121941', 'score': 550.77}, {'connected_gene': 'GC10M121943', 'score': 550.77}, {'connected_gene': 'GC10M121944', 'score': 550.77}, {'connected_gene': 'GC10M121942', 'score': 550.77}, {'connected_gene': 'NSMCE4A', 'score': 14.1}, {'connected_gene': 'ATE1', 'score': 12.11}, {'connected_gene': 'ATE1-AS1', 'score': 12.02}, {'connected_gene': 'GC10M121946', 'score': 0.77}]
chr10 GH10I121956 121956303 121957402 0.38 [{'connected_gene': 'ENSG00000276742', 'score': 550.77}, {'connected_gene': 'NSMCE4A', 'score': 14.2}, {'connected_gene': 'ATE1', 'score': 11.47}, {'connected_gene': 'ENSG00000273891', 'score': 0.44}]
chr10 GH10I121947 121947758 121947917 0.22 [{'connected_gene': 'GC10M121947', 'score': 550.77}, {'connected_gene': 'ENSG00000273767', 'score': 550.77}, {'connected_gene': 'GC10M121946', 'score': 550.77}, {'connected_gene': 'ATE1-AS1', 'score': 28.84}, {'connected_gene': 'BTBD16', 'score': 17.27}, {'connected_gene': 'NSMCE4A', 'score': 12.59}, {'connected_gene': 'PLEKHA1', 'score': 5.92}]