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
ENST00000513335 [[147627789, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863836], [147866182, 147866229], [147866860, 147866984]] [[147628309, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863807]]
ENST00000398886 [[147628179, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863807]] [[147628309, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863807]]
ENST00000325106 [[147628179, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147866182, 147866229], [147866860, 147867034]] [[147628309, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861047]]
ENST00000508306 [[147628183, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147752792, 147752946], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147866182, 147866229], [147866860, 147866985]] [[147752831, 147752946], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861047]]
ENST00000504425 [[147628184, 147628340], [147628636, 147628700], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147866182, 147866229], [147866860, 147867034]] [[147628309, 147628340], [147628636, 147628700], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861047]]
ENST00000515315 [[147830374, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863836], [147865248, 147865485], [147866182, 147866200]] [[147830374, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863807]]
ENST00000504272 [[147628338, 147628340], [147628636, 147628703], [147684965, 147685339]] None
ENST00000506019 [[147724627, 147724837], [147733908, 147734182]] None
ENST00000502319 [[147860968, 147861053], [147865248, 147865502], [147866182, 147866229], [147866860, 147867031]] [[147860968, 147861047]]
NM_001300761 [[147627789, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863836], [147866182, 147866229], [147866860, 147867038]] [[147628309, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147863735, 147863807]]
NR_133922 [[147627789, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147752792, 147752946], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147866182, 147866229], [147866860, 147867038]] None
NM_031956 [[147627789, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147866182, 147866229], [147866860, 147867038]] [[147628309, 147628340], [147628636, 147628703], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861047]]
NM_001317806 [[147627789, 147628340], [147628636, 147628700], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861053], [147866182, 147866229], [147866860, 147867038]] [[147628309, 147628340], [147628636, 147628700], [147724608, 147724837], [147741276, 147741400], [147754957, 147755049], [147788649, 147788735], [147795867, 147796080], [147824695, 147824881], [147830177, 147830401], [147858745, 147858829], [147860955, 147861047]]
Promoter
Chrom Start End Description
chr4 147866946 147866951 CAGE_peak_4_at_TTC29_5end
chr4 147866960 147866991 CAGE_peak_2_at_TTC29_5end
chr4 147866993 147867021 CAGE_peak_1_at_TTC29_5end
chr4 147867025 147867049 CAGE_peak_3_at_TTC29_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I146974 146974776 146975723 0.62 [{'connected_gene': 'TTC29', 'score': 21.86}, {'connected_gene': 'POU4F2', 'score': 9.87}, {'connected_gene': 'GC04M146965', 'score': 0.44}, {'connected_gene': 'ENSG00000248346', 'score': 0.37}, {'connected_gene': 'ENSG00000260090', 'score': 0.29}, {'connected_gene': 'LOC105377473', 'score': 0.26}]
chr4 GH04I147198 147198049 147199254 0.51 [{'connected_gene': 'TTC29', 'score': 4.27}, {'connected_gene': 'GC04P147327', 'score': 0.13}, {'connected_gene': 'LOC105377476', 'score': 0.13}]
chr4 GH04I146789 146789685 146790072 0.22 [{'connected_gene': 'TTC29', 'score': 7.34}, {'connected_gene': 'LOC105377474', 'score': 0.26}, {'connected_gene': 'POU4F2', 'score': 0.1}]
chr4 GH04I146945 146945401 146946401 1.7 [{'connected_gene': 'TTC29', 'score': 564.09}, {'connected_gene': 'GC04M146947', 'score': 0.77}, {'connected_gene': 'LOC105377473', 'score': 0.39}, {'connected_gene': 'ENSG00000248764', 'score': 0.39}]
chr4 GH04I146880 146880679 146880936 0.4 [{'connected_gene': 'POU4F2', 'score': 9.66}, {'connected_gene': 'LOC105377474', 'score': 0.25}, {'connected_gene': 'ENSG00000248764', 'score': 0.23}, {'connected_gene': 'TTC29', 'score': 0.2}]
chr4 GH04I146829 146829115 146829473 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.77}, {'connected_gene': 'TTC29', 'score': 0.13}, {'connected_gene': 'POU4F2', 'score': 0.08}]
chr4 GH04I146847 146847285 146847535 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.39}, {'connected_gene': 'ENSG00000248764', 'score': 0.17}, {'connected_gene': 'TTC29', 'score': 0.15}]
chr4 GH04I146787 146787910 146788128 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.25}, {'connected_gene': 'POU4F2', 'score': 0.11}, {'connected_gene': 'TTC29', 'score': 0.1}]
chr4 GH04I146768 146768653 146769033 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.21}, {'connected_gene': 'POU4F2', 'score': 0.13}, {'connected_gene': 'TTC29', 'score': 0.1}]
chr4 GH04I146788 146787685 146787894 0.4 [{'connected_gene': 'LOC105377474', 'score': 0.25}, {'connected_gene': 'POU4F2', 'score': 0.11}, {'connected_gene': 'TTC29', 'score': 0.1}]
chr4 GH04I147003 147003637 147004799 0.31 [{'connected_gene': 'ENSG00000260090', 'score': 550.77}, {'connected_gene': 'TTC29', 'score': 11.76}, {'connected_gene': 'LOC105377475', 'score': 0.37}, {'connected_gene': 'GC04M146965', 'score': 0.28}]
chr4 GH04I146919 146919954 146920242 0.4 [{'connected_gene': 'ENSG00000248764', 'score': 0.39}, {'connected_gene': 'TTC29', 'score': 0.31}, {'connected_gene': 'LOC105377474', 'score': 0.17}]
chr4 GH04I146956 146956288 146958220 0.38 [{'connected_gene': 'ENSG00000248346', 'score': 550.77}, {'connected_gene': 'TTC29', 'score': 13.71}, {'connected_gene': 'ENSG00000248764', 'score': 11.33}, {'connected_gene': 'GC04M146947', 'score': 0.44}, {'connected_gene': 'LOC105377473', 'score': 0.34}]

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