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
ENST00000271835 [[152381718, 152383419], [152384571, 152384722], [152386689, 152386739]] [[152382069, 152383419], [152384571, 152384709]]
NM_016190 [[152381718, 152383419], [152384571, 152384722], [152386689, 152386750]] [[152382069, 152383419], [152384571, 152384709]]
Promoter
Chrom Start End Description
chr1 152386732 152386745 CAGE_peak_1_at_CRNN_5end
chr1 152386747 152386752 CAGE_peak_2_at_CRNN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I152501 152501203 152504185 0.57 [{'connected_gene': 'RORC', 'score': 5.67}, {'connected_gene': 'CRNN', 'score': 5.38}, {'connected_gene': 'LCE5A', 'score': 0.44}, {'connected_gene': 'PIR42758', 'score': 0.18}]
chr1 GH01I152459 152459582 152461024 0.95 [{'connected_gene': 'CRCT1', 'score': 10.36}, {'connected_gene': 'LCE5A', 'score': 10.27}, {'connected_gene': 'S100A11', 'score': 10.06}, {'connected_gene': 'RPTN', 'score': 9.31}, {'connected_gene': 'CRNN', 'score': 6.08}, {'connected_gene': 'PIR42758', 'score': 0.28}]
chr1 GH01I152412 152412731 152413709 0.2 [{'connected_gene': 'CRNN', 'score': 550.77}, {'connected_gene': 'FLG2', 'score': 9.99}, {'connected_gene': 'FLG', 'score': 9.01}, {'connected_gene': 'GC01P152408', 'score': 0.77}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1 GH01I152414 152414253 152414312 0.7 [{'connected_gene': 'CRNN', 'score': 550.77}, {'connected_gene': 'GC01P152408', 'score': 0.44}, {'connected_gene': 'PIR42758', 'score': 0.44}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1 GH01I152440 152440965 152441114 0.89 [{'connected_gene': 'CRNN', 'score': 6.25}, {'connected_gene': 'PIR42758', 'score': 0.34}, {'connected_gene': 'LCE5A', 'score': 0.2}, {'connected_gene': 'FLG-AS1', 'score': 0.06}]
chr1 GH01I152480 152480185 152480334 0.38 [{'connected_gene': 'LCE5A', 'score': 11.15}, {'connected_gene': 'CRCT1', 'score': 11.14}, {'connected_gene': 'LCE3A', 'score': 10.03}, {'connected_gene': 'LCE3D', 'score': 9.88}, {'connected_gene': 'HRNR', 'score': 9.57}, {'connected_gene': 'CRNN', 'score': 5.86}, {'connected_gene': 'PIR42758', 'score': 0.22}]
chr1 GH01I152446 152446218 152451632 0.38 [{'connected_gene': 'FLG', 'score': 17.39}, {'connected_gene': 'S100A11', 'score': 14.89}, {'connected_gene': 'CRNN', 'score': 13.2}, {'connected_gene': 'FLG2', 'score': 10.28}, {'connected_gene': 'HRNR', 'score': 10.1}, {'connected_gene': 'FLG-AS1', 'score': 5.23}, {'connected_gene': 'PIR42758', 'score': 0.31}, {'connected_gene': 'LCE5A', 'score': 0.21}]
chr1 GH01I152426 152426925 152428489 0.31 [{'connected_gene': 'FLG', 'score': 15.98}, {'connected_gene': 'CRNN', 'score': 13.12}, {'connected_gene': 'FLG2', 'score': 10.66}, {'connected_gene': 'HRNR', 'score': 9.83}, {'connected_gene': 'RPTN', 'score': 9.71}, {'connected_gene': 'PIR42758', 'score': 0.44}, {'connected_gene': 'LCE5A', 'score': 0.18}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1 GH01I152409 152409438 152412682 0.31 [{'connected_gene': 'FLG', 'score': 15.09}, {'connected_gene': 'CRNN', 'score': 11.14}, {'connected_gene': 'FLG2', 'score': 9.99}, {'connected_gene': 'FLG-AS1', 'score': 6.18}, {'connected_gene': 'GC01P152408', 'score': 0.77}]
chr1 GH01I152436 152436852 152439397 0.2 [{'connected_gene': 'FLG', 'score': 16.2}, {'connected_gene': 'CRNN', 'score': 13.22}, {'connected_gene': 'PIR42758', 'score': 0.37}, {'connected_gene': 'LCE5A', 'score': 0.19}, {'connected_gene': 'FLG-AS1', 'score': 0.06}]
chr1 GH01I152487 152487516 152488862 0.2 [{'connected_gene': 'THEM4', 'score': 5.41}, {'connected_gene': 'CRNN', 'score': 4.53}, {'connected_gene': 'LCE5A', 'score': 0.34}, {'connected_gene': 'PIR42758', 'score': 0.2}]
chr1 GH01I152417 152417723 152420776 0.31 [{'connected_gene': 'PIR42758', 'score': 550.77}, {'connected_gene': 'CRNN', 'score': 13.35}, {'connected_gene': 'FLG', 'score': 6.35}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]