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
ENST00000377950 [[44300080, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303986], [44306468, 44306613]] [[44301742, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303986], [44306468, 44306532]]
ENST00000414615 [[44300392, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303986], [44324691, 44324786]] [[44301742, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303921]]
ENST00000594013 [[44301110, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44304181]] [[44301742, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303921]]
ENST00000595666 [[44301647, 44301981], [44302606, 44302848]] None
ENST00000601224 [[44301833, 44301981], [44302606, 44302753], [44302963, 44303219]] None
ENST00000594049 [[44302611, 44302753], [44302963, 44303140], [44303857, 44303986], [44324629, 44324750]] [[44302611, 44302753], [44302963, 44303140], [44303857, 44303921]]
ENST00000602179 [[44302653, 44302753], [44302963, 44303140], [44303857, 44303986], [44331150, 44331351]] [[44302653, 44302753], [44302963, 44303140], [44303857, 44303921]]
ENST00000599397 [[44326208, 44328066], [44331150, 44331358]] None
NM_001288763 [[44300078, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44304181]] [[44301742, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303921]]
NM_001031749 [[44300078, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303986], [44306468, 44306613]] [[44301742, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303986], [44306468, 44306532]]
NM_182573 [[44300078, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303986], [44324691, 44324808]] [[44301742, 44301981], [44302606, 44302753], [44302963, 44303140], [44303857, 44303921]]
Promoter
Chrom Start End Description
chr19 44303013 44303027 CAGE_peak_10_at_LYPD5_5end
chr19 44303031 44303053 CAGE_peak_6_at_LYPD5_5end
chr19 44303071 44303083 CAGE_peak_9_at_LYPD5_5end
chr19 44306567 44306574 CAGE_peak_7_at_LYPD5_5end
chr19 44306590 44306614 CAGE_peak_2_at_LYPD5_5end
chr19 44324752 44324800 CAGE_peak_1_at_LYPD5_5end
chr19 44324812 44324824 CAGE_peak_3_at_LYPD5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I043773 43773680 43786123 2.83 [{'connected_gene': 'KCNN4', 'score': 585.15}, {'connected_gene': 'ZNF180', 'score': 246.04}, {'connected_gene': 'ZNF45', 'score': 238.71}, {'connected_gene': 'ZNF225', 'score': 207.05}, {'connected_gene': 'ZNF224', 'score': 147.71}, {'connected_gene': 'ZNF284', 'score': 141.24}, {'connected_gene': 'ZNF227', 'score': 133.6}, {'connected_gene': 'ZNF283', 'score': 124.54}, {'connected_gene': 'ZNF223', 'score': 122.26}, {'connected_gene': 'ZNF576', 'score': 116.22}, {'connected_gene': 'ZNF235', 'score': 114.73}, {'connected_gene': 'ZNF234', 'score': 114.71}, {'connected_gene': 'ZNF226', 'score': 100.3}, {'connected_gene': 'ZNF221', 'score': 97.07}, {'connected_gene': 'XRCC1', 'score': 86.02}, {'connected_gene': 'LOC100505715', 'score': 85.59}, {'connected_gene': 'MRPS15P2', 'score': 77.35}, {'connected_gene': 'ZNF230', 'score': 70.03}, {'connected_gene': 'ZNF285', 'score': 56.33}, {'connected_gene': 'ENSG00000267191', 'score': 51.98}, {'connected_gene': 'PINLYP', 'score': 48.97}, {'connected_gene': 'ZNF428', 'score': 46.95}, {'connected_gene': 'ZNF222', 'score': 44.64}, {'connected_gene': 'LOC101928063', 'score': 44.04}, {'connected_gene': 'LOC100379224', 'score': 39.29}, {'connected_gene': 'IRGQ', 'score': 39.13}, {'connected_gene': 'CEACAM19', 'score': 31.77}, {'connected_gene': 'SMG9', 'score': 30.49}, {'connected_gene': 'ENSG00000268601', 'score': 23.57}, {'connected_gene': 'LYPD5', 'score': 22.84}, {'connected_gene': 'PLAUR', 'score': 21.74}, {'connected_gene': 'ZNF285B', 'score': 19.74}, {'connected_gene': 'SRRM5', 'score': 14.96}, {'connected_gene': 'ZNF575', 'score': 13.43}, {'connected_gene': 'ZNF233', 'score': 11.12}, {'connected_gene': 'IRGC', 'score': 11.06}, {'connected_gene': 'PHLDB3', 'score': 10.59}, {'connected_gene': 'TEX101', 'score': 1.99}, {'connected_gene': 'PIR62393', 'score': 0.44}]
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 GH19I043826 43826689 43828258 1.99 [{'connected_gene': 'ZNF283', 'score': 622.47}, {'connected_gene': 'LYPD5', 'score': 550.77}, {'connected_gene': 'ZNF45', 'score': 103.24}, {'connected_gene': 'ZNF225', 'score': 92.26}, {'connected_gene': 'ZNF180', 'score': 92.16}, {'connected_gene': 'ZNF234', 'score': 61.87}, {'connected_gene': 'MRPS15P2', 'score': 55.08}, {'connected_gene': 'ZNF224', 'score': 54.76}, {'connected_gene': 'ZNF227', 'score': 48.98}, {'connected_gene': 'ZNF155', 'score': 48.1}, {'connected_gene': 'ZNF112', 'score': 47.51}, {'connected_gene': 'ZNF284', 'score': 42.84}, {'connected_gene': 'ZNF221', 'score': 33.32}, {'connected_gene': 'XRCC1', 'score': 33.13}, {'connected_gene': 'ZNF235', 'score': 29.64}, {'connected_gene': 'ZNF223', 'score': 27.68}, {'connected_gene': 'IRGQ', 'score': 23.91}, {'connected_gene': 'LOC100505715', 'score': 21.24}, {'connected_gene': 'ZNF226', 'score': 19.44}, {'connected_gene': 'ZNF576', 'score': 19.07}, {'connected_gene': 'PINLYP', 'score': 18.92}, {'connected_gene': 'ZNF404', 'score': 18.58}, {'connected_gene': 'ZNF230', 'score': 14.33}, {'connected_gene': 'KCNN4', 'score': 12.24}, {'connected_gene': 'ZNF285', 'score': 10.87}, {'connected_gene': 'ENSG00000267191', 'score': 9.99}, {'connected_gene': 'ENSG00000278917', 'score': 0.21}]
chr19 GH19I043820 43820201 43820886 1.13 [{'connected_gene': 'LYPD5', 'score': 550.44}, {'connected_gene': 'ZNF225', 'score': 12.58}, {'connected_gene': 'ENSG00000268601', 'score': 11.71}, {'connected_gene': 'MRPS15P2', 'score': 11.66}, {'connected_gene': 'ZNF223', 'score': 11.63}, {'connected_gene': 'ZNF234', 'score': 11.34}, {'connected_gene': 'ZNF227', 'score': 10.66}, {'connected_gene': 'ZNF180', 'score': 10.57}, {'connected_gene': 'ZNF235', 'score': 10.3}, {'connected_gene': 'ZNF226', 'score': 9.93}, {'connected_gene': 'PIR46459', 'score': 0.34}]
chr19 GH19I043804 43804455 43804719 0.47 [{'connected_gene': 'LYPD5', 'score': 14.32}, {'connected_gene': 'ZNF222', 'score': 13.78}, {'connected_gene': 'ZNF227', 'score': 11.59}, {'connected_gene': 'ZNF235', 'score': 11.05}, {'connected_gene': 'LOC100505715', 'score': 10.69}, {'connected_gene': 'ZNF223', 'score': 10.27}, {'connected_gene': 'CADM4', 'score': 1.84}, {'connected_gene': 'PIR46459', 'score': 0.44}]
chr19 GH19I043800 43800010 43800069 0.96 [{'connected_gene': 'LYPD5', 'score': 578.9}, {'connected_gene': 'PIR46459', 'score': 550.77}, {'connected_gene': 'SMG9', 'score': 11.57}, {'connected_gene': 'IRGC', 'score': 11.41}, {'connected_gene': 'CADM4', 'score': 10.3}]
chr19 GH19I043802 43802437 43802496 0.61 [{'connected_gene': 'LYPD5', 'score': 550.34}, {'connected_gene': 'PIR46459', 'score': 0.77}]
chr19 GH19I043818 43818649 43818798 0.43 [{'connected_gene': 'LYPD5', 'score': 0.44}, {'connected_gene': 'PIR46459', 'score': 0.37}]
chr19 GH19I043633 43633790 43633879 0.75 [{'connected_gene': 'CADM4', 'score': 8.27}, {'connected_gene': 'LYPD5', 'score': 2.86}, {'connected_gene': 'ZNF221', 'score': 2.08}, {'connected_gene': 'ZNF575', 'score': 1.73}, {'connected_gene': 'ZNF428', 'score': 1.54}, {'connected_gene': 'LOC105372410', 'score': 0.77}, {'connected_gene': 'LOC105372411', 'score': 0.39}]
chr19 GH19I043634 43634214 43636962 1.57 [{'connected_gene': 'LOC105372410', 'score': 550.77}, {'connected_gene': 'CADM4', 'score': 10.24}, {'connected_gene': 'PINLYP', 'score': 9.22}, {'connected_gene': 'LYPD5', 'score': 7.34}, {'connected_gene': 'ZNF221', 'score': 5.34}, {'connected_gene': 'ZNF575', 'score': 4.23}, {'connected_gene': 'ZNF223', 'score': 1.73}, {'connected_gene': 'ZNF224', 'score': 1.56}, {'connected_gene': 'ZNF428', 'score': 1.53}, {'connected_gene': 'ZNF284', 'score': 1.37}, {'connected_gene': 'IRGQ', 'score': 1.35}, {'connected_gene': 'ZNF225', 'score': 1.2}, {'connected_gene': 'LOC105372411', 'score': 0.37}]
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}]
chr19 GH19I043798 43798229 43799805 1.68 [{'connected_gene': 'PIR46459', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 166.6}, {'connected_gene': 'ZNF45', 'score': 166.44}, {'connected_gene': 'ZNF225', 'score': 156.91}, {'connected_gene': 'ZNF224', 'score': 109.77}, {'connected_gene': 'ZNF234', 'score': 105.58}, {'connected_gene': 'ZNF284', 'score': 104.05}, {'connected_gene': 'ZNF223', 'score': 83.87}, {'connected_gene': 'ZNF227', 'score': 82.38}, {'connected_gene': 'ZNF226', 'score': 77.77}, {'connected_gene': 'ZNF283', 'score': 73.34}, {'connected_gene': 'ZNF235', 'score': 66.51}, {'connected_gene': 'MRPS15P2', 'score': 55.44}, {'connected_gene': 'XRCC1', 'score': 45.37}, {'connected_gene': 'ZNF112', 'score': 45.22}, {'connected_gene': 'ZNF576', 'score': 40.22}, {'connected_gene': 'ZNF221', 'score': 38.41}, {'connected_gene': 'ZNF230', 'score': 37.61}, {'connected_gene': 'LYPD5', 'score': 35.48}, {'connected_gene': 'ZNF222', 'score': 27.62}, {'connected_gene': 'ENSG00000268601', 'score': 25.15}, {'connected_gene': 'LOC100505715', 'score': 21.19}, {'connected_gene': 'PINLYP', 'score': 18.93}, {'connected_gene': 'IRGQ', 'score': 15.41}, {'connected_gene': 'SRRM5', 'score': 14.95}, {'connected_gene': 'SMG9', 'score': 11.58}, {'connected_gene': 'ZNF285B', 'score': 11.47}, {'connected_gene': 'IRGC', 'score': 11.41}, {'connected_gene': 'ZNF285', 'score': 10.87}, {'connected_gene': 'ZNF404', 'score': 10.72}, {'connected_gene': 'CADM4', 'score': 10.31}, {'connected_gene': 'ENSG00000267191', 'score': 9.94}, {'connected_gene': 'KCNN4', 'score': 6.18}]
chr19 GH19I043789 43789001 43789400 0.9 [{'connected_gene': 'ENSG00000268601', 'score': 25.94}, {'connected_gene': 'SMG9', 'score': 11.83}, {'connected_gene': 'IRGC', 'score': 11.11}, {'connected_gene': 'LYPD5', 'score': 11.06}, {'connected_gene': 'PLAUR', 'score': 11.02}, {'connected_gene': 'KCNN4', 'score': 6.76}, {'connected_gene': 'PIR62393', 'score': 0.77}]
chr19 GH19I043806 43806969 43807118 0.2 [{'connected_gene': 'ENSG00000268601', 'score': 11.77}, {'connected_gene': 'ZNF283', 'score': 8.26}, {'connected_gene': 'PIR46459', 'score': 0.44}, {'connected_gene': 'LYPD5', 'score': 0.34}]
chr19 GH19I043799 43799836 43799998 1.27 [{'connected_gene': 'PIR46459', 'score': 550.77}, {'connected_gene': 'LYPD5', 'score': 550.31}, {'connected_gene': 'SMG9', 'score': 11.58}, {'connected_gene': 'IRGC', 'score': 11.41}, {'connected_gene': 'CADM4', 'score': 10.3}]
chr19 GH19I043809 43809909 43810018 0.64 [{'connected_gene': 'PIR46459', 'score': 0.39}, {'connected_gene': 'LYPD5', 'score': 0.37}]

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