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
ENST00000337938 [[57875481, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899385, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899385, 57899514]]
ENST00000311585 [[57875497, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897507], [57899385, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897507], [57899385, 57899422]]
ENST00000371028 [[57875498, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899385, 57899529], [57899750, 57901046]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899385, 57899514]]
ENST00000371025 [[57875672, 57875919], [57876464, 57876777], [57896071, 57896248], [57899385, 57899801]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57899385, 57899422]]
ENST00000395654 [[57875757, 57875919], [57876464, 57876777], [57896071, 57896248], [57899381, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57899381, 57899514]]
NM_001302456 [[57875481, 57875919], [57876464, 57876777], [57896071, 57896248], [57899385, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57899385, 57899422]]
NM_207033 [[57875481, 57875919], [57876464, 57876777], [57896071, 57896248], [57899381, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57899381, 57899514]]
NM_207034 [[57875481, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899385, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899385, 57899514]]
NM_001302455 [[57875481, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899381, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897472], [57899381, 57899390]]
NM_207032 [[57875481, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897507], [57899385, 57901047]] [[57875867, 57875919], [57876464, 57876777], [57896071, 57896248], [57897426, 57897507], [57899385, 57899422]]
Promoter
Chrom Start End Description
chr20 57875267 57875287 CAGE_peak_4_at_EDN3_5end
chr20 57875457 57875496 CAGE_peak_2_at_EDN3_5end
chr20 57875506 57875525 CAGE_peak_5_at_EDN3_5end
chr20 57875548 57875554 CAGE_peak_9_at_EDN3_5end
chr20 57875631 57875638 CAGE_peak_6_at_EDN3_5end
chr20 57875644 57875657 CAGE_peak_3_at_EDN3_5end
chr20 57875658 57875673 CAGE_peak_1_at_EDN3_5end
chr20 57875797 57875806 CAGE_peak_8_at_EDN3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I059451 59451256 59454880 0.43 [{'connected_gene': 'EDN3', 'score': 10.49}, {'connected_gene': 'CTSZ', 'score': 4.83}, {'connected_gene': 'PIEZO1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000230352', 'score': 0.17}]
chr20 GH20I059252 59252984 59254638 0.89 [{'connected_gene': 'EDN3', 'score': 10.34}, {'connected_gene': 'GNAS-AS1', 'score': 9.86}, {'connected_gene': 'GNAS', 'score': 9.86}, {'connected_gene': 'ZNF831', 'score': 0.12}]
chr20 GH20I059385 59385186 59386295 0.43 [{'connected_gene': 'EDN3', 'score': 10.77}, {'connected_gene': 'ENSG00000230352', 'score': 0.34}, {'connected_gene': 'PIEZO1P1', 'score': 0.18}]
chr20 GH20I059400 59400849 59400971 0.33 [{'connected_gene': 'EDN3', 'score': 4.93}, {'connected_gene': 'ENSG00000230352', 'score': 0.28}, {'connected_gene': 'PIEZO1P1', 'score': 0.22}]
chr20 GH20I059268 59268754 59269292 0.38 [{'connected_gene': 'EDN3', 'score': 11.26}, {'connected_gene': 'ZNF831', 'score': 0.11}]
chr20 GH20I059194 59194502 59196326 0.2 [{'connected_gene': 'EDN3', 'score': 5.41}, {'connected_gene': 'ZNF831', 'score': 0.19}]
chr20 GH20I059221 59221801 59223255 0.97 [{'connected_gene': 'EDN3', 'score': 0.18}, {'connected_gene': 'ZNF831', 'score': 0.15}]
chr20 GH20I059299 59299623 59300859 1.04 [{'connected_gene': 'EDN3', 'score': 550.77}, {'connected_gene': 'ZNF831', 'score': 0.1}]
chr20 GH20I059320 59320316 59321653 0.43 [{'connected_gene': 'EDN3', 'score': 12.04}, {'connected_gene': 'ENSG00000225129', 'score': 0.28}]
chr20 GH20I059333 59333566 59335768 0.54 [{'connected_gene': 'EDN3', 'score': 11.53}, {'connected_gene': 'ENSG00000225129', 'score': 0.34}]
chr20 GH20I059314 59314029 59319281 0.64 [{'connected_gene': 'EDN3', 'score': 0.37}, {'connected_gene': 'ENSG00000225129', 'score': 0.26}]
chr20 GH20I059308 59308041 59309934 0.52 [{'connected_gene': 'EDN3', 'score': 0.44}, {'connected_gene': 'ENSG00000225129', 'score': 0.25}]
chr20 GH20I059144 59144338 59145293 0.63 [{'connected_gene': 'ZNF831', 'score': 12.01}, {'connected_gene': 'NELFCD', 'score': 10.83}, {'connected_gene': 'EDN3', 'score': 0.1}]
chr20 GH20I059176 59176821 59180362 0.79 [{'connected_gene': 'ZNF831', 'score': 5.73}, {'connected_gene': 'TUBB1', 'score': 1.36}, {'connected_gene': 'EDN3', 'score': 0.13}]
chr20 GH20I059158 59158827 59168054 1.35 [{'connected_gene': 'ZNF831', 'score': 17.78}, {'connected_gene': 'TUBB1', 'score': 1.63}, {'connected_gene': 'EDN3', 'score': 0.12}]
chr20 GH20I059191 59191067 59191126 0.5 [{'connected_gene': 'ZNF831', 'score': 550.2}, {'connected_gene': 'EDN3', 'score': 0.14}]
chr20 GH20I059207 59207826 59208015 0.54 [{'connected_gene': 'ZNF831', 'score': 0.18}, {'connected_gene': 'EDN3', 'score': 0.16}]
chr20 GH20I059175 59175049 59175434 0.44 [{'connected_gene': 'ZNF831', 'score': 4.02}, {'connected_gene': 'EDN3', 'score': 0.13}]
chr20 GH20I059181 59181844 59183510 0.46 [{'connected_gene': 'ZNF831', 'score': 0.22}, {'connected_gene': 'EDN3', 'score': 0.13}]
chr20 GH20I059157 59157131 59157990 0.56 [{'connected_gene': 'ZNF831', 'score': 0.29}, {'connected_gene': 'EDN3', 'score': 0.11}]
chr20 GH20I059232 59232120 59232518 0.33 [{'connected_gene': 'ZNF831', 'score': 2.2}, {'connected_gene': 'EDN3', 'score': 0.2}]
chr20 GH20I059139 59139083 59140663 0.65 [{'connected_gene': 'ZNF831', 'score': 0.37}, {'connected_gene': 'EDN3', 'score': 0.1}]
chr20 GH20I059170 59170446 59170595 0.74 [{'connected_gene': 'ZNF831', 'score': 11.93}, {'connected_gene': 'EDN3', 'score': 0.13}]
chr20 GH20I059185 59185180 59185333 0.56 [{'connected_gene': 'ZNF831', 'score': 1.71}, {'connected_gene': 'EDN3', 'score': 0.13}]
chr20 GH20I059145 59145715 59151501 1.34 [{'connected_gene': 'ZNF831', 'score': 15.52}, {'connected_gene': 'PHACTR3', 'score': 1.42}, {'connected_gene': 'STX16', 'score': 1.42}, {'connected_gene': 'EDN3', 'score': 0.1}]