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
ENST00000273286 [[54952263, 54952919], [54958645, 54959242], [54961931, 54962101]] [[54952485, 54952919], [54958645, 54959242], [54961931, 54961938]]
ENST00000493075 [[54952359, 54952919], [54958645, 54959242], [55000954, 55001115]] [[54952485, 54952919], [54958645, 54959021]]
NM_020678 [[54952359, 54952919], [54958645, 54959242], [54961931, 54962101]] [[54952485, 54952919], [54958645, 54959242], [54961931, 54961938]]
NM_001304389 [[54952359, 54952919], [54958645, 54959242], [55000954, 55001115]] [[54952485, 54952919], [54958645, 54959021]]
Promoter
Chrom Start End Description
chr3 54962005 54962014 CAGE_peak_4_at_LRTM1_5end
chr3 54962035 54962047 CAGE_peak_2_at_LRTM1_5end
chr3 54962072 54962092 CAGE_peak_1_at_LRTM1_5end
chr3 54962100 54962107 CAGE_peak_7_at_LRTM1_5end
chr3 54962252 54962267 CAGE_peak_3_at_LRTM1_5end
chr3 54962289 54962300 CAGE_peak_5_at_LRTM1_5end
chr3 55001120 55001131 CAGE_peak_6_at_LRTM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I055159 55159164 55164164 1.39 [{'connected_gene': 'WNT5A', 'score': 3.38}, {'connected_gene': 'ENSG00000239991', 'score': 0.39}, {'connected_gene': 'LRTM1', 'score': 0.08}]
chr3 GH03I055167 55167036 55171487 1.14 [{'connected_gene': 'LRTM1', 'score': 10.21}, {'connected_gene': 'WNT5A', 'score': 6.04}, {'connected_gene': 'WNT5A-AS1', 'score': 5.85}, {'connected_gene': 'ENSG00000239991', 'score': 0.44}]
chr3 GH03I054998 54998522 55001718 0.96 [{'connected_gene': 'LRTM1', 'score': 0.29}, {'connected_gene': 'ENSG00000239991', 'score': 0.1}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I054853 54853954 54854103 0.76 [{'connected_gene': 'LRTM1', 'score': 9.96}, {'connected_gene': 'GC03M054844', 'score': 0.44}, {'connected_gene': 'GC03M054892', 'score': 0.26}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I055069 55069817 55070060 0.33 [{'connected_gene': 'LRTM1', 'score': 0.15}, {'connected_gene': 'ENSG00000239991', 'score': 0.14}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I055065 55065982 55067482 0.31 [{'connected_gene': 'LRTM1', 'score': 0.15}, {'connected_gene': 'ENSG00000239991', 'score': 0.14}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I054964 54964243 54970031 1.47 [{'connected_gene': 'LRTM1', 'score': 550.77}, {'connected_gene': 'ENSG00000239991', 'score': 0.08}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I054985 54985936 54986582 0.4 [{'connected_gene': 'LRTM1', 'score': 0.37}, {'connected_gene': 'ENSG00000239991', 'score': 0.09}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I055061 55061774 55061923 0.46 [{'connected_gene': 'LRTM1', 'score': 0.16}, {'connected_gene': 'ENSG00000239991', 'score': 0.14}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I054988 54988200 54989810 0.74 [{'connected_gene': 'LRTM1', 'score': 11.47}, {'connected_gene': 'ENSG00000239991', 'score': 0.09}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054981 54981124 54984533 0.83 [{'connected_gene': 'LRTM1', 'score': 0.37}, {'connected_gene': 'ENSG00000239991', 'score': 0.08}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054888 54888331 54894769 1.27 [{'connected_gene': 'LRTM1', 'score': 9.86}, {'connected_gene': 'GC03M054892', 'score': 0.77}, {'connected_gene': 'CACNA2D3-AS1', 'score': 0.44}, {'connected_gene': 'GC03M054844', 'score': 0.26}, {'connected_gene': 'CACNA2D3', 'score': 0.02}]
chr3 GH03I054957 54957481 54958098 0.51 [{'connected_gene': 'LRTM1', 'score': 0.44}, {'connected_gene': 'CACNA2D3-AS1', 'score': 0.22}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054960 54960194 54960343 0.2 [{'connected_gene': 'LRTM1', 'score': 0.44}, {'connected_gene': 'CACNA2D3-AS1', 'score': 0.22}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054881 54881647 54883223 0.89 [{'connected_gene': 'LRTM1', 'score': 10.44}, {'connected_gene': 'GC03M054892', 'score': 0.39}, {'connected_gene': 'CACNA2D3-AS1', 'score': 0.37}, {'connected_gene': 'GC03M054844', 'score': 0.29}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054928 54928049 54928108 0.5 [{'connected_gene': 'LRTM1', 'score': 550.28}, {'connected_gene': 'CACNA2D3-AS1', 'score': 12.02}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054905 54905486 54907938 0.31 [{'connected_gene': 'CACNA2D3-AS1', 'score': 0.44}, {'connected_gene': 'LRTM1', 'score': 0.21}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054950 54950546 54957034 1.25 [{'connected_gene': 'CACNA2D3-AS1', 'score': 11.37}, {'connected_gene': 'LRTM1', 'score': 0.39}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054900 54900413 54902947 0.4 [{'connected_gene': 'CACNA2D3-AS1', 'score': 550.77}, {'connected_gene': 'LRTM1', 'score': 0.2}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054874 54874604 54877801 0.58 [{'connected_gene': 'CACNA2D3-AS1', 'score': 12.26}, {'connected_gene': 'LRTM1', 'score': 10.42}, {'connected_gene': 'GC03M054892', 'score': 0.37}, {'connected_gene': 'GC03M054844', 'score': 0.31}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054926 54926660 54927294 0.64 [{'connected_gene': 'CACNA2D3-AS1', 'score': 12.02}, {'connected_gene': 'LRTM1', 'score': 0.26}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I054849 54849322 54850334 0.2 [{'connected_gene': 'GC03M054844', 'score': 550.77}, {'connected_gene': 'LRTM1', 'score': 9.96}, {'connected_gene': 'GC03M054892', 'score': 0.25}, {'connected_gene': 'CACNA2D3', 'score': 0.03}]
chr3 GH03I055164 55164978 55165427 0.51 [{'connected_gene': 'ENSG00000239991', 'score': 0.39}, {'connected_gene': 'LRTM1', 'score': 0.08}]
chr3 GH03I055127 55127746 55129016 0.86 [{'connected_gene': 'ENSG00000239991', 'score': 0.25}, {'connected_gene': 'LRTM1', 'score': 0.1}]
chr3 GH03I055133 55133363 55135988 0.2 [{'connected_gene': 'ENSG00000239991', 'score': 0.26}, {'connected_gene': 'LRTM1', 'score': 0.1}]
chr3 GH03I055173 55173352 55174363 0.31 [{'connected_gene': 'ENSG00000239991', 'score': 550.77}, {'connected_gene': 'LRTM1', 'score': 0.08}]
chr3 GH03I055157 55157834 55157983 0.4 [{'connected_gene': 'ENSG00000239991', 'score': 0.37}, {'connected_gene': 'LRTM1', 'score': 0.08}]
chr3 GH03I055143 55143715 55145143 0.69 [{'connected_gene': 'ENSG00000239991', 'score': 0.29}, {'connected_gene': 'LRTM1', 'score': 0.1}]
chr3 GH03I055165 55165453 55165602 0.51 [{'connected_gene': 'ENSG00000239991', 'score': 0.39}, {'connected_gene': 'LRTM1', 'score': 0.08}]
chr3 GH03I055147 55147081 55149274 0.2 [{'connected_gene': 'ENSG00000239991', 'score': 0.31}, {'connected_gene': 'LRTM1', 'score': 0.09}]