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
ENST00000538205 [[24241797, 24242105], [24247641, 24247731], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263526]] [[24250804, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24262811]]
ENST00000256412 [[24241797, 24242105], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263526]] [[24242017, 24242105], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24262811]]
ENST00000522298 [[24241982, 24242105], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263526]] [[24250804, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24262811]]
ENST00000520193 [[24242017, 24242105], [24247641, 24247731], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263230]] [[24242017, 24242105], [24247641, 24247679]]
ENST00000519953 [[24262804, 24262957], [24263046, 24263525]] None
NM_001145272 [[24241797, 24242105], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263526]] [[24250804, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24262811]]
NM_014479 [[24241797, 24242105], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263526]] [[24242017, 24242105], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24262811]]
NM_001145271 [[24241797, 24242105], [24247641, 24247731], [24249774, 24249893], [24250774, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24263526]] [[24250804, 24250851], [24251581, 24251660], [24253232, 24253309], [24254782, 24254969], [24255195, 24255258], [24255992, 24256064], [24256386, 24256553], [24256905, 24256987], [24257682, 24257813], [24259427, 24259605], [24261515, 24261601], [24262804, 24262811]]
Promoter
Chrom Start End Description
chr8 24241789 24241802 CAGE_peak_4_at_ADAMDEC1_5end
chr8 24241955 24241966 CAGE_peak_3_at_ADAMDEC1_5end
chr8 24241969 24241999 CAGE_peak_2_at_ADAMDEC1_5end
chr8 24242010 24242026 CAGE_peak_1_at_ADAMDEC1_5end
chr8 24262894 24262908 CAGE_peak_6_at_ADAMDEC1_5end
chr8 24262931 24262946 CAGE_peak_5_at_ADAMDEC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I024383 24383748 24389107 1.96 [{'connected_gene': 'ADAMDEC1', 'score': 560.53}, {'connected_gene': 'ADAM28', 'score': 10.29}, {'connected_gene': 'ADAM7', 'score': 5.6}, {'connected_gene': 'PIR51295', 'score': 0.44}, {'connected_gene': 'GC08P024271', 'score': 0.13}, {'connected_gene': 'LOC101929294', 'score': 0.1}, {'connected_gene': 'GC08P024089', 'score': 0.06}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024375 24375119 24377604 0.2 [{'connected_gene': 'ADAMDEC1', 'score': 0.44}, {'connected_gene': 'ADAM28', 'score': 0.18}, {'connected_gene': 'GC08P024271', 'score': 0.14}, {'connected_gene': 'LOC101929294', 'score': 0.09}, {'connected_gene': 'GC08P024089', 'score': 0.06}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024355 24355422 24356712 0.38 [{'connected_gene': 'ADAMDEC1', 'score': 0.31}, {'connected_gene': 'ADAM28', 'score': 0.21}, {'connected_gene': 'GC08P024271', 'score': 0.17}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.06}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024370 24370581 24371843 1.12 [{'connected_gene': 'ADAMDEC1', 'score': 0.39}, {'connected_gene': 'ADAM28', 'score': 0.18}, {'connected_gene': 'GC08P024271', 'score': 0.15}, {'connected_gene': 'LOC101929294', 'score': 0.1}, {'connected_gene': 'GC08P024089', 'score': 0.06}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024356 24356716 24358006 0.43 [{'connected_gene': 'ADAMDEC1', 'score': 16.94}, {'connected_gene': 'ENSG00000253535', 'score': 12.0}, {'connected_gene': 'ADAM28', 'score': 0.21}, {'connected_gene': 'GC08P024271', 'score': 0.17}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.06}]
chr8 GH08I024345 24345026 24345098 0.42 [{'connected_gene': 'ADAMDEC1', 'score': 13.38}, {'connected_gene': 'ENSG00000253535', 'score': 11.85}, {'connected_gene': 'ADAM28', 'score': 10.13}, {'connected_gene': 'GC08P024271', 'score': 0.19}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.07}]
chr8 GH08I024360 24360579 24364631 0.31 [{'connected_gene': 'ADAMDEC1', 'score': 18.49}, {'connected_gene': 'ENSG00000253535', 'score': 12.63}, {'connected_gene': 'ADAM28', 'score': 0.2}, {'connected_gene': 'GC08P024271', 'score': 0.16}, {'connected_gene': 'LOC101929294', 'score': 0.09}, {'connected_gene': 'GC08P024089', 'score': 0.06}]
chr8 GH08I024275 24275521 24278875 0.31 [{'connected_gene': 'ADAMDEC1', 'score': 12.17}, {'connected_gene': 'ENSG00000253535', 'score': 12.06}, {'connected_gene': 'GC08P024271', 'score': 0.44}, {'connected_gene': 'ADAM28', 'score': 0.37}, {'connected_gene': 'GC08P024089', 'score': 0.09}]
chr8 GH08I024228 24228558 24230082 1.05 [{'connected_gene': 'ADAMDEC1', 'score': 11.84}, {'connected_gene': 'ENSG00000253535', 'score': 11.77}, {'connected_gene': 'GC08M024224', 'score': 0.77}, {'connected_gene': 'GC08M024201', 'score': 0.34}, {'connected_gene': 'GC08P024089', 'score': 0.11}]
chr8 GH08I024225 24225541 24226108 0.4 [{'connected_gene': 'ADAMDEC1', 'score': 11.84}, {'connected_gene': 'ENSG00000253535', 'score': 11.76}, {'connected_gene': 'GC08M024224', 'score': 0.44}, {'connected_gene': 'GC08M024201', 'score': 0.37}, {'connected_gene': 'GC08P024089', 'score': 0.12}]
chr8 GH08I024337 24337299 24337578 0.4 [{'connected_gene': 'ADAM28', 'score': 5.72}, {'connected_gene': 'ADAMDEC1', 'score': 0.25}, {'connected_gene': 'GC08P024271', 'score': 0.2}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.07}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024339 24339468 24339617 0.63 [{'connected_gene': 'ADAM28', 'score': 5.94}, {'connected_gene': 'ADAMDEC1', 'score': 0.26}, {'connected_gene': 'GC08P024271', 'score': 0.2}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.07}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024334 24334885 24335180 0.42 [{'connected_gene': 'ADAM28', 'score': 13.19}, {'connected_gene': 'ADAMDEC1', 'score': 0.25}, {'connected_gene': 'GC08P024271', 'score': 0.21}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.07}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024318 24318947 24319089 0.44 [{'connected_gene': 'ADAM28', 'score': 8.99}, {'connected_gene': 'GC08P024271', 'score': 0.25}, {'connected_gene': 'ADAMDEC1', 'score': 0.2}, {'connected_gene': 'GC08P024089', 'score': 0.07}, {'connected_gene': 'LOC101929294', 'score': 0.07}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024293 24293428 24298804 1.93 [{'connected_gene': 'ADAM28', 'score': 569.75}, {'connected_gene': 'GC08P024271', 'score': 0.31}, {'connected_gene': 'ADAMDEC1', 'score': 0.17}, {'connected_gene': 'GC08P024089', 'score': 0.08}, {'connected_gene': 'LOC101929294', 'score': 0.07}, {'connected_gene': 'ENSG00000253535', 'score': 0.03}]
chr8 GH08I024347 24347569 24348002 0.48 [{'connected_gene': 'ADAM28', 'score': 19.58}, {'connected_gene': 'ENSG00000253535', 'score': 12.26}, {'connected_gene': 'ADAMDEC1', 'score': 0.28}, {'connected_gene': 'GC08P024271', 'score': 0.18}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.07}]
chr8 GH08I024366 24366373 24368097 1.17 [{'connected_gene': 'ADAM28', 'score': 19.63}, {'connected_gene': 'ENSG00000253535', 'score': 12.63}, {'connected_gene': 'ADAMDEC1', 'score': 6.02}, {'connected_gene': 'GC08P024271', 'score': 0.15}, {'connected_gene': 'LOC101929294', 'score': 0.09}, {'connected_gene': 'GC08P024089', 'score': 0.06}]
chr8 GH08I024348 24348723 24351056 1.3 [{'connected_gene': 'ENSG00000253535', 'score': 12.26}, {'connected_gene': 'ADAM28', 'score': 7.14}, {'connected_gene': 'ADAMDEC1', 'score': 2.19}, {'connected_gene': 'GC08P024271', 'score': 0.18}, {'connected_gene': 'LOC101929294', 'score': 0.08}, {'connected_gene': 'GC08P024089', 'score': 0.07}]
chr8 GH08I024271 24271285 24273069 1.19 [{'connected_gene': 'GC08P024271', 'score': 550.77}, {'connected_gene': 'ENSG00000253535', 'score': 12.06}, {'connected_gene': 'ADAM28', 'score': 4.09}, {'connected_gene': 'ADAMDEC1', 'score': 1.34}, {'connected_gene': 'GC08P024089', 'score': 0.09}]