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
ENST00000388718 [[152321210, 152330123], [152331222, 152331382], [152332431, 152332482]] [[152323085, 152330123], [152331222, 152331360]]
NM_001014342 [[152321212, 152330123], [152331222, 152331382], [152332431, 152332482]] [[152323085, 152330123], [152331222, 152331360]]
Promoter
Chrom Start End Description
chr1 152332480 152332484 CAGE_peak_1_at_FLG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I152392 152392945 152393094 0.89 [{'connected_gene': 'MRPL9', 'score': 28.86}, {'connected_gene': 'POGZ', 'score': 19.92}, {'connected_gene': 'RPS10P6', 'score': 11.79}, {'connected_gene': 'FLG2', 'score': 10.84}, {'connected_gene': 'HRNR', 'score': 9.88}, {'connected_gene': 'PSMB4', 'score': 9.88}, {'connected_gene': 'FLG', 'score': 9.8}, {'connected_gene': 'HMGN3P1', 'score': 0.44}, {'connected_gene': 'GC01P152378', 'score': 0.39}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
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 GH01I152458 152458505 152458654 0.64 [{'connected_gene': 'FLG2', 'score': 10.08}, {'connected_gene': 'CRCT1', 'score': 9.9}, {'connected_gene': 'RPTN', 'score': 9.34}, {'connected_gene': 'PIR42758', 'score': 0.28}, {'connected_gene': 'LCE5A', 'score': 0.23}]
chr1 GH01I152359 152359996 152360055 0.5 [{'connected_gene': 'FLG2', 'score': 550.77}, {'connected_gene': 'GC01P152378', 'score': 0.37}, {'connected_gene': 'FLG-AS1', 'score': 0.08}]
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 GH01I152229 152229005 152229114 0.31 [{'connected_gene': 'ENSG00000236427', 'score': 11.21}, {'connected_gene': 'FLG', 'score': 9.97}, {'connected_gene': 'TCHH', 'score': 9.79}, {'connected_gene': 'FLG2', 'score': 9.62}, {'connected_gene': 'HRNR', 'score': 0.77}, {'connected_gene': 'FLG-AS1', 'score': 0.21}, {'connected_gene': 'PIR46233', 'score': 0.19}]