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
ENST00000295379 [[69092612, 69093703], [69098156, 69098649]] [[69092762, 69093703], [69098156, 69098490]]
NM_014482 [[69088047, 69093703], [69098156, 69098649]] [[69092762, 69093703], [69098156, 69098490]]
Promoter
Chrom Start End Description
chr2 69098513 69098537 CAGE_peak_1_at_BMP10_5end
chr2 69098540 69098553 CAGE_peak_2_at_BMP10_5end
chr2 69098566 69098571 CAGE_peak_3_at_BMP10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I068925 68925409 68925558 0.89 [{'connected_gene': 'FBXO48', 'score': 11.36}, {'connected_gene': 'APLF', 'score': 11.36}, {'connected_gene': 'LINC01888', 'score': 11.19}, {'connected_gene': 'BMP10', 'score': 10.98}, {'connected_gene': 'ANTXR1', 'score': 10.13}, {'connected_gene': 'GKN1', 'score': 9.81}, {'connected_gene': 'GKN3P', 'score': 0.77}, {'connected_gene': 'GKN2', 'score': 0.31}]
chr2 GH02I068924 68924181 68925383 0.67 [{'connected_gene': 'FBXO48', 'score': 11.36}, {'connected_gene': 'APLF', 'score': 11.36}, {'connected_gene': 'LINC01888', 'score': 11.19}, {'connected_gene': 'BMP10', 'score': 10.98}, {'connected_gene': 'ANTXR1', 'score': 10.13}, {'connected_gene': 'GKN1', 'score': 9.81}, {'connected_gene': 'GKN3P', 'score': 0.77}, {'connected_gene': 'GKN2', 'score': 0.31}]
chr2 GH02I068805 68805642 68810625 1.51 [{'connected_gene': 'PLEK', 'score': 15.67}, {'connected_gene': 'LINC01888', 'score': 13.25}, {'connected_gene': 'BMP10', 'score': 10.69}, {'connected_gene': 'WDR92', 'score': 9.82}, {'connected_gene': 'ARHGAP25', 'score': 8.53}, {'connected_gene': 'FBXO48', 'score': 6.48}, {'connected_gene': 'LINC01890', 'score': 5.09}, {'connected_gene': 'APLF', 'score': 2.72}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
chr2 GH02I068798 68798514 68800702 1.13 [{'connected_gene': 'PLEK', 'score': 12.97}, {'connected_gene': 'LINC01888', 'score': 12.33}, {'connected_gene': 'BMP10', 'score': 10.67}, {'connected_gene': 'LINC01890', 'score': 5.19}, {'connected_gene': 'FBXO48', 'score': 4.19}, {'connected_gene': 'ARHGAP25', 'score': 2.7}, {'connected_gene': 'APLF', 'score': 1.14}, {'connected_gene': 'LOC105374790', 'score': 0.28}]
chr2 GH02I068849 68849265 68851029 0.89 [{'connected_gene': 'BMP10', 'score': 11.86}, {'connected_gene': 'GKN2', 'score': 10.07}, {'connected_gene': 'ANTXR1', 'score': 9.95}, {'connected_gene': 'LINC01890', 'score': 5.57}]
chr2 GH02I068906 68906735 68909599 1.33 [{'connected_gene': 'BMP10', 'score': 11.93}, {'connected_gene': 'LINC01888', 'score': 11.8}, {'connected_gene': 'FBXO48', 'score': 11.05}, {'connected_gene': 'APLF', 'score': 11.05}, {'connected_gene': 'GKN2', 'score': 10.34}, {'connected_gene': 'GKN3P', 'score': 0.39}, {'connected_gene': 'LOC105374792', 'score': 0.31}]
chr2 GH02I068900 68900267 68901478 0.56 [{'connected_gene': 'BMP10', 'score': 11.96}, {'connected_gene': 'LINC01888', 'score': 11.82}, {'connected_gene': 'GKN2', 'score': 10.31}, {'connected_gene': 'LOC105374792', 'score': 0.37}, {'connected_gene': 'GKN3P', 'score': 0.34}]
chr2 GH02I068872 68872022 68872944 0.31 [{'connected_gene': 'BMP10', 'score': 550.77}, {'connected_gene': 'LINC01888', 'score': 10.37}, {'connected_gene': 'LOC105374792', 'score': 0.44}]
chr2 GH02I068873 68872948 68873378 0.2 [{'connected_gene': 'BMP10', 'score': 550.77}, {'connected_gene': 'LINC01888', 'score': 10.37}, {'connected_gene': 'LOC105374792', 'score': 0.44}]
chr2 GH02I068838 68838811 68839761 0.71 [{'connected_gene': 'BMP10', 'score': 10.73}, {'connected_gene': 'LINC01890', 'score': 0.77}]
chr2 GH02I068845 68845347 68848448 0.46 [{'connected_gene': 'BMP10', 'score': 11.86}, {'connected_gene': 'LINC01890', 'score': 7.82}]
chr2 GH02I068870 68870908 68871622 0.43 [{'connected_gene': 'BMP10', 'score': 550.77}, {'connected_gene': 'LINC01890', 'score': 0.29}]
chr2 GH02I068861 68861469 68861643 0.36 [{'connected_gene': 'LINC01888', 'score': 11.76}, {'connected_gene': 'ARHGAP25', 'score': 4.73}, {'connected_gene': 'PLEK', 'score': 4.64}, {'connected_gene': 'APLF', 'score': 2.77}, {'connected_gene': 'FBXO48', 'score': 1.51}, {'connected_gene': 'BMP10', 'score': 0.44}, {'connected_gene': 'LINC01890', 'score': 0.34}]
chr2 GH02I068853 68853397 68853890 0.64 [{'connected_gene': 'LINC01888', 'score': 11.53}, {'connected_gene': 'ANTXR1', 'score': 9.95}, {'connected_gene': 'GKN2', 'score': 9.53}, {'connected_gene': 'LINC01890', 'score': 7.97}, {'connected_gene': 'BMP10', 'score': 0.37}]
chr2 GH02I068857 68857169 68858469 1 [{'connected_gene': 'LINC01888', 'score': 11.76}, {'connected_gene': 'PLEK', 'score': 11.23}, {'connected_gene': 'FBXO48', 'score': 10.18}, {'connected_gene': 'GKN2', 'score': 9.61}, {'connected_gene': 'APLF', 'score': 6.09}, {'connected_gene': 'BMP10', 'score': 0.39}, {'connected_gene': 'LINC01890', 'score': 0.34}]
chr2 GH02I068874 68873416 68874141 0.2 [{'connected_gene': 'LINC01888', 'score': 10.37}, {'connected_gene': 'ANXA4', 'score': 5.34}, {'connected_gene': 'BMP10', 'score': 0.77}, {'connected_gene': 'LOC105374792', 'score': 0.44}]
chr2 GH02I068865 68865631 68866981 0.38 [{'connected_gene': 'LINC01888', 'score': 11.74}, {'connected_gene': 'ANXA4', 'score': 5.33}, {'connected_gene': 'BMP10', 'score': 0.44}, {'connected_gene': 'LINC01890', 'score': 0.31}]
chr2 GH02I068794 68794072 68798000 0.92 [{'connected_gene': 'LINC01888', 'score': 12.25}, {'connected_gene': 'BMP10', 'score': 10.66}, {'connected_gene': 'ANXA4', 'score': 4.86}, {'connected_gene': 'LOC105374790', 'score': 0.29}, {'connected_gene': 'ARHGAP25', 'score': 0.13}]
chr2 GH02I068864 68864649 68864984 0.22 [{'connected_gene': 'LINC01888', 'score': 11.74}, {'connected_gene': 'BMP10', 'score': 3.41}, {'connected_gene': 'LINC01890', 'score': 0.31}]
chr2 GH02I068868 68868975 68869731 0.2 [{'connected_gene': 'LINC01888', 'score': 10.33}, {'connected_gene': 'BMP10', 'score': 0.77}, {'connected_gene': 'LINC01890', 'score': 0.29}]
chr2 GH02I068802 68802686 68805601 0.38 [{'connected_gene': 'LINC01888', 'score': 12.69}, {'connected_gene': 'BMP10', 'score': 9.92}, {'connected_gene': 'C1D', 'score': 5.41}, {'connected_gene': 'LOC105374790', 'score': 0.26}, {'connected_gene': 'ARHGAP25', 'score': 0.13}]
chr2 GH02I068877 68877253 68878891 0.78 [{'connected_gene': 'LOC105374792', 'score': 0.77}, {'connected_gene': 'BMP10', 'score': 0.44}]
chr2 GH02I068879 68879305 68881111 0.38 [{'connected_gene': 'LOC105374792', 'score': 550.77}, {'connected_gene': 'LINC01888', 'score': 10.69}, {'connected_gene': 'GKN1', 'score': 9.58}, {'connected_gene': 'ANTXR1', 'score': 9.38}, {'connected_gene': 'BMP10', 'score': 0.44}]
chr2 GH02I068836 68836801 68838201 1.1 [{'connected_gene': 'LINC01890', 'score': 561.2}, {'connected_gene': 'BMP10', 'score': 10.73}, {'connected_gene': 'LINC01888', 'score': 0.44}]