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
ENST00000167588 [[39032192, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041479]] [[39032612, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041437]]
ENST00000482529 [[39038714, 39038906], [39041047, 39041162]] None
NM_019010 [[39032140, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041495]] [[39032612, 39032710], [39033631, 39033669], [39034396, 39034617], [39036064, 39036190], [39036351, 39036513], [39036865, 39037022], [39038823, 39038906], [39041047, 39041437]]
Promoter
Chrom Start End Description
chr17 39041488 39041501 CAGE_peak_1_at_KRT20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041338 41338033 41343989 0.96 [{'connected_gene': 'KRT38', 'score': 20.57}, {'connected_gene': 'KRTAP16-1', 'score': 10.63}, {'connected_gene': 'KRTAP29-1', 'score': 10.61}, {'connected_gene': 'KRT31', 'score': 10.3}, {'connected_gene': 'LOC100505782', 'score': 10.28}, {'connected_gene': 'KRTAP17-1', 'score': 10.24}, {'connected_gene': 'KRTAP9-6', 'score': 10.09}, {'connected_gene': 'KRT37', 'score': 10.04}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.84}, {'connected_gene': 'RNU2-32P', 'score': 9.84}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRT20', 'score': 9.39}, {'connected_gene': 'KRTAP2-5P', 'score': 9.36}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT23', 'score': 8.62}, {'connected_gene': 'KRT36', 'score': 6.02}, {'connected_gene': 'ENSG00000108516', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
chr17 GH17I040948 40948885 40960541 1.66 [{'connected_gene': 'KRTAP3-2', 'score': 14.79}, {'connected_gene': 'KRT23', 'score': 14.29}, {'connected_gene': 'KRTAP2-1', 'score': 12.09}, {'connected_gene': 'KRT39', 'score': 11.35}, {'connected_gene': 'KRT40', 'score': 10.72}, {'connected_gene': 'KRTAP2-2', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.6}, {'connected_gene': 'KRTAP3-3', 'score': 10.48}, {'connected_gene': 'KRTAP1-5', 'score': 10.4}, {'connected_gene': 'KRTAP3-1', 'score': 10.15}, {'connected_gene': 'KRTAP1-4', 'score': 9.98}, {'connected_gene': 'KRTAP2-3', 'score': 9.98}, {'connected_gene': 'KRT20', 'score': 9.83}, {'connected_gene': 'KRTAP4-6', 'score': 9.53}, {'connected_gene': 'LOC100505782', 'score': 9.45}, {'connected_gene': 'KRT19', 'score': 9.43}, {'connected_gene': 'KRT15', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 9.3}, {'connected_gene': 'KRT34', 'score': 4.8}, {'connected_gene': 'KRTAP9-2', 'score': 1.36}]
chr17 GH17I040857 40857129 40857400 0.99 [{'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 10.63}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'KRTAP1-5', 'score': 9.82}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17 GH17I040886 40886229 40886378 0.52 [{'connected_gene': 'KRT20', 'score': 550.77}, {'connected_gene': 'ENSG00000234477', 'score': 10.61}, {'connected_gene': 'GC17P040941', 'score': 0.77}, {'connected_gene': 'GC17P040955', 'score': 0.29}, {'connected_gene': 'LOC105371777', 'score': 0.28}]
chr17 GH17I040908 40908603 40917347 1.68 [{'connected_gene': 'KRT23', 'score': 18.92}, {'connected_gene': 'KRTAP3-2', 'score': 15.5}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'KRT20', 'score': 10.7}, {'connected_gene': 'TMEM99', 'score': 10.03}, {'connected_gene': 'KRT37', 'score': 9.73}, {'connected_gene': 'KRT28', 'score': 9.65}, {'connected_gene': 'KRT40', 'score': 9.55}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT31', 'score': 9.29}, {'connected_gene': 'KRT38', 'score': 9.04}, {'connected_gene': 'KRT19', 'score': 4.71}, {'connected_gene': 'KRTAP1-5', 'score': 3.88}, {'connected_gene': 'KRTAP1-1', 'score': 3.26}, {'connected_gene': 'IGFBP4', 'score': 1.73}, {'connected_gene': 'GC17P040955', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.21}]
chr17 GH17I040900 40900290 40905306 1.42 [{'connected_gene': 'KRT23', 'score': 14.48}, {'connected_gene': 'SNORD124', 'score': 12.38}, {'connected_gene': 'KRT12', 'score': 10.98}, {'connected_gene': 'TMEM99', 'score': 10.06}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRTAP3-2', 'score': 9.77}, {'connected_gene': 'KRT40', 'score': 9.73}, {'connected_gene': 'KRT37', 'score': 9.68}, {'connected_gene': 'KRT38', 'score': 9.3}, {'connected_gene': 'KRT26', 'score': 9.14}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'GC17P040955', 'score': 0.37}, {'connected_gene': 'KRT20', 'score': 0.37}, {'connected_gene': 'LOC105371777', 'score': 0.23}]
chr17 GH17I040858 40857569 40857718 0.43 [{'connected_gene': 'TMEM99', 'score': 16.67}, {'connected_gene': 'KRT20', 'score': 11.23}, {'connected_gene': 'KRT28', 'score': 9.66}, {'connected_gene': 'KRTAP1-4', 'score': 9.23}, {'connected_gene': 'KRT31', 'score': 9.0}, {'connected_gene': 'LOC100505782', 'score': 9.0}, {'connected_gene': 'GC17P040954', 'score': 0.44}, {'connected_gene': 'ENSG00000265359', 'score': 0.44}, {'connected_gene': 'KRT12', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.44}]
chr17 GH17I040881 40881521 40886220 1.15 [{'connected_gene': 'GC17P040941', 'score': 550.77}, {'connected_gene': 'KRT20', 'score': 550.77}, {'connected_gene': 'MED24', 'score': 19.49}, {'connected_gene': 'TMEM99', 'score': 17.08}, {'connected_gene': 'KLHL11', 'score': 11.26}, {'connected_gene': 'NT5C3B', 'score': 10.87}, {'connected_gene': 'ENSG00000234477', 'score': 10.61}, {'connected_gene': 'MSL1', 'score': 10.3}, {'connected_gene': 'KLHL10', 'score': 10.26}, {'connected_gene': 'SMARCE1', 'score': 9.75}, {'connected_gene': 'ENSG00000259623', 'score': 9.71}, {'connected_gene': 'LOC105371777', 'score': 0.29}]
chr17 GH17I040896 40896291 40897444 0.2 [{'connected_gene': 'ENSG00000234477', 'score': 11.09}, {'connected_gene': 'KRT12', 'score': 11.02}, {'connected_gene': 'KRT40', 'score': 9.71}, {'connected_gene': 'KRT28', 'score': 9.52}, {'connected_gene': 'TMEM99', 'score': 9.49}, {'connected_gene': 'KRT26', 'score': 9.15}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'KRT23', 'score': 7.42}, {'connected_gene': 'GC17P040941', 'score': 0.39}, {'connected_gene': 'KRT20', 'score': 0.39}, {'connected_gene': 'GC17P040955', 'score': 0.34}, {'connected_gene': 'LOC105371777', 'score': 0.25}]
chr17 GH17I040848 40848621 40855486 1.15 [{'connected_gene': 'GC17P040954', 'score': 550.77}, {'connected_gene': 'ENSG00000265359', 'score': 550.77}, {'connected_gene': 'TMEM99', 'score': 32.44}, {'connected_gene': 'KRT20', 'score': 10.9}, {'connected_gene': 'KRT28', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.0}, {'connected_gene': 'KRT37', 'score': 9.65}, {'connected_gene': 'LOC100505782', 'score': 9.15}, {'connected_gene': 'KRT31', 'score': 9.15}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'LOC105371777', 'score': 0.77}]