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
NR_103551 [[44930422, 44934717], [44935941, 44936541], [44946746, 44946805], [44946997, 44947208], [44951700, 44951788], [44952496, 44952665]] None
NM_014518 [[44930422, 44934717], [44936396, 44936541], [44946746, 44946805], [44946997, 44947208], [44951700, 44951788], [44952496, 44952665]] [[44932477, 44934717], [44936396, 44936541], [44946746, 44946805], [44946997, 44947031]]
NM_001278510 [[44930422, 44934717], [44936414, 44936541], [44946746, 44946805], [44946997, 44947208], [44951700, 44951788], [44952708, 44952766]] [[44932477, 44934717], [44936414, 44936541], [44946746, 44946805], [44946997, 44947031]]
Promoter
Chrom Start End Description
chr19 44952635 44952668 CAGE_peak_1_at_ZNF229_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I044447 44447435 44449102 1.9 [{'connected_gene': 'ZNF229', 'score': 556.33}, {'connected_gene': 'ENSG00000267188', 'score': 550.77}, {'connected_gene': 'ZNF225', 'score': 15.51}, {'connected_gene': 'ZNF180', 'score': 15.46}, {'connected_gene': 'ZNF226', 'score': 13.36}, {'connected_gene': 'ZNF227', 'score': 10.83}, {'connected_gene': 'ZNF45', 'score': 10.69}, {'connected_gene': 'CLASRP', 'score': 10.3}, {'connected_gene': 'ZNF235', 'score': 10.07}, {'connected_gene': 'ZNF223', 'score': 9.98}, {'connected_gene': 'XRCC1', 'score': 9.66}, {'connected_gene': 'ZNF285', 'score': 7.05}]
chr19 GH19I044442 44442917 44442976 0.5 [{'connected_gene': 'ZNF229', 'score': 550.44}, {'connected_gene': 'ZNF180', 'score': 11.76}, {'connected_gene': 'ZNF233', 'score': 10.26}, {'connected_gene': 'ENSG00000267188', 'score': 0.44}, {'connected_gene': 'ZNF285', 'score': 0.26}]
chr19 GH19I044111 44111601 44114401 2.38 [{'connected_gene': 'ZNF225', 'score': 686.86}, {'connected_gene': 'LOC100379224', 'score': 588.2}, {'connected_gene': 'ZNF45', 'score': 153.65}, {'connected_gene': 'ZNF180', 'score': 126.43}, {'connected_gene': 'ZNF227', 'score': 116.48}, {'connected_gene': 'ZNF283', 'score': 94.32}, {'connected_gene': 'ZNF576', 'score': 92.28}, {'connected_gene': 'ZNF112', 'score': 89.44}, {'connected_gene': 'ZNF224', 'score': 85.95}, {'connected_gene': 'ZNF226', 'score': 76.62}, {'connected_gene': 'ZNF223', 'score': 72.27}, {'connected_gene': 'ZNF235', 'score': 71.36}, {'connected_gene': 'ZNF155', 'score': 71.03}, {'connected_gene': 'ENSG00000267191', 'score': 68.86}, {'connected_gene': 'ZNF234', 'score': 67.36}, {'connected_gene': 'LOC100505715', 'score': 64.2}, {'connected_gene': 'XRCC1', 'score': 62.31}, {'connected_gene': 'CLASRP', 'score': 61.05}, {'connected_gene': 'ZNF284', 'score': 60.25}, {'connected_gene': 'ENSG00000267114', 'score': 56.73}, {'connected_gene': 'LOC101928063', 'score': 45.31}, {'connected_gene': 'MRPS15P2', 'score': 44.13}, {'connected_gene': 'ZNF285', 'score': 38.96}, {'connected_gene': 'ZNF230', 'score': 37.63}, {'connected_gene': 'IRGQ', 'score': 36.31}, {'connected_gene': 'ZNF222', 'score': 26.75}, {'connected_gene': 'ZNF428', 'score': 21.87}, {'connected_gene': 'PINLYP', 'score': 21.12}, {'connected_gene': 'CEACAM19', 'score': 12.22}, {'connected_gene': 'SMG9', 'score': 11.78}, {'connected_gene': 'ZNF233', 'score': 10.88}, {'connected_gene': 'PHLDB3', 'score': 10.56}, {'connected_gene': 'PPP1R37', 'score': 10.2}, {'connected_gene': 'ZNF285B', 'score': 10.02}, {'connected_gene': 'ZNF229', 'score': 1.77}, {'connected_gene': 'ZNF404', 'score': 1.39}, {'connected_gene': 'KCNN4', 'score': 1.3}, {'connected_gene': 'ZNF221', 'score': 1.3}]
chr19 GH19I044245 44245432 44245693 0.46 [{'connected_gene': 'MRPS15P2', 'score': 17.86}, {'connected_gene': 'ZNF180', 'score': 17.37}, {'connected_gene': 'ZNF45', 'score': 16.89}, {'connected_gene': 'ZNF283', 'score': 15.9}, {'connected_gene': 'ZNF112', 'score': 14.41}, {'connected_gene': 'ZNF225', 'score': 14.24}, {'connected_gene': 'ZNF226', 'score': 13.56}, {'connected_gene': 'ZNF224', 'score': 13.37}, {'connected_gene': 'ZNF221', 'score': 12.42}, {'connected_gene': 'ZNF284', 'score': 11.75}, {'connected_gene': 'ZNF234', 'score': 11.65}, {'connected_gene': 'ZNF155', 'score': 11.27}, {'connected_gene': 'ZNF229', 'score': 11.04}, {'connected_gene': 'ZNF223', 'score': 11.02}, {'connected_gene': 'ZNF235', 'score': 10.59}, {'connected_gene': 'ZNF285', 'score': 2.88}, {'connected_gene': 'ZNF227', 'score': 2.55}, {'connected_gene': 'ZNF233', 'score': 2.07}, {'connected_gene': 'LYPD5', 'score': 1.83}, {'connected_gene': 'ENSG00000279103', 'score': 0.77}, {'connected_gene': 'PIR42464', 'score': 0.39}]
chr19 GH19I044316 44316968 44317298 0.22 [{'connected_gene': 'ZNF233', 'score': 18.79}, {'connected_gene': 'ZNF229', 'score': 10.56}, {'connected_gene': 'ZNF112', 'score': 2.91}, {'connected_gene': 'ZNF221', 'score': 2.81}, {'connected_gene': 'ZNF285', 'score': 2.5}, {'connected_gene': 'ZNF223', 'score': 1.83}, {'connected_gene': 'ZNF284', 'score': 1.6}, {'connected_gene': 'ZNF180', 'score': 1.47}, {'connected_gene': 'ZNF227', 'score': 1.4}, {'connected_gene': 'PIR37551', 'score': 0.39}, {'connected_gene': 'GC19M044340', 'score': 0.26}]
chr19 GH19I044400 44400801 44402205 1.93 [{'connected_gene': 'ZNF285', 'score': 590.39}, {'connected_gene': 'ENSG00000267173', 'score': 550.77}, {'connected_gene': 'ZNF229', 'score': 11.21}, {'connected_gene': 'ZNF180', 'score': 6.35}, {'connected_gene': 'GC19P044381', 'score': 0.34}, {'connected_gene': 'ENSG00000267188', 'score': 0.25}]
chr19 GH19I044268 44268943 44269238 0.54 [{'connected_gene': 'GC19P044273', 'score': 550.77}, {'connected_gene': 'ZNF227', 'score': 12.62}, {'connected_gene': 'ZNF226', 'score': 12.5}, {'connected_gene': 'ZNF229', 'score': 10.35}, {'connected_gene': 'ZNF155', 'score': 5.28}, {'connected_gene': 'ZNF285', 'score': 2.19}, {'connected_gene': 'ZNF112', 'score': 2.06}, {'connected_gene': 'ZNF233', 'score': 1.95}, {'connected_gene': 'LYPD5', 'score': 1.85}, {'connected_gene': 'ZNF221', 'score': 1.64}, {'connected_gene': 'ZNF235', 'score': 1.61}, {'connected_gene': 'ZNF234', 'score': 1.59}, {'connected_gene': 'ZNF224', 'score': 1.52}, {'connected_gene': 'ZNF284', 'score': 1.35}, {'connected_gene': 'PIR50306', 'score': 0.44}]