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
ENST00000358196 [[171673071, 171673558], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171700554, 171700667], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705795, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171717661]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171700554, 171700667], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705795, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171716392]]
ENST00000414527 [[171673547, 171673558], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705795, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171716426]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171702015, 171702079]]
ENST00000493875 [[171674279, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171700554, 171700667], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705192, 171705304], [171705795, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171717661]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171700554, 171700667], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705192, 171705304], [171705795, 171705842]]
ENST00000454603 [[171669722, 171669932], [171675038, 171675183], [171678596, 171678659], [171685984, 171686095]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686095]]
ENST00000445006 [[171672623, 171672766], [171673237, 171673558], [171675038, 171675183], [171678596, 171678626]] [[171675101, 171675183], [171678596, 171678626]]
ENST00000375272 [[171673199, 171673562], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699266]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699115]]
ENST00000344257 [[171673421, 171673558], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699269]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699115]]
ENST00000455008 [[171673764, 171673926], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687501]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687501]]
ENST00000456864 [[171674278, 171674408], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687518]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687518]]
ENST00000429023 [[171675120, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699158], [171700554, 171700667]] None
ENST00000485013 [[171678227, 171678659], [171685984, 171686130]] None
ENST00000486850 [[171678596, 171678659], [171685984, 171686382]] [[171678596, 171678659], [171685984, 171686175]]
ENST00000493270 [[171685477, 171686143], [171687459, 171687600]] None
ENST00000462739 [[171700311, 171700667], [171701842, 171702053]] None
ENST00000488724 [[171705576, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171716763]] None
ENST00000478562 [[171708997, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171717657]] None
NM_000817 [[171673199, 171673558], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171700554, 171700667], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705795, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171717661]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171700554, 171700667], [171702015, 171702131], [171702215, 171702295], [171702518, 171702573], [171704185, 171704302], [171705795, 171705860], [171709223, 171709302], [171710382, 171710532], [171713527, 171713635], [171715313, 171715403], [171716218, 171716392]]
NM_013445 [[171673199, 171673562], [171675038, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699269]] [[171675101, 171675183], [171678596, 171678659], [171685984, 171686143], [171687459, 171687702], [171693302, 171693393], [171699078, 171699115]]
Promoter
Chrom Start End Description
chr2 171673216 171673225 CAGE_peak_11_at_GAD1_5end
chr2 171673226 171673253 CAGE_peak_5_at_GAD1_5end
chr2 171673254 171673269 CAGE_peak_2_at_GAD1_5end
chr2 171673341 171673352 CAGE_peak_3_at_GAD1_5end
chr2 171673383 171673411 CAGE_peak_1_at_GAD1_5end
chr2 171673417 171673422 CAGE_peak_6_at_GAD1_5end
chr2 171673428 171673436 CAGE_peak_4_at_GAD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I170361 170361471 170363781 0.93 [{'connected_gene': 'PPIG', 'score': 12.53}, {'connected_gene': 'ENSG00000235934', 'score': 11.22}, {'connected_gene': 'GAD1', 'score': 11.22}, {'connected_gene': 'MYO3B', 'score': 5.99}, {'connected_gene': 'GC02P170379', 'score': 0.39}, {'connected_gene': 'LOC101929753', 'score': 0.25}, {'connected_gene': 'GC02P170306', 'score': 0.22}]
chr2 GH02I170751 170751600 170752000 0.5 [{'connected_gene': 'EIF2S2P4', 'score': 550.77}, {'connected_gene': 'GAD1', 'score': 11.72}, {'connected_gene': 'GC02M170760', 'score': 0.44}, {'connected_gene': 'LOC101926913', 'score': 0.37}]
chr2 GH02I170713 170713093 170717789 2.34 [{'connected_gene': 'SP5', 'score': 550.77}, {'connected_gene': 'LINC01124', 'score': 550.77}, {'connected_gene': 'LOC101926913', 'score': 14.21}, {'connected_gene': 'DCAF17', 'score': 13.94}, {'connected_gene': 'GAD1', 'score': 8.74}, {'connected_gene': 'EIF2S2P4', 'score': 0.28}]
chr2 GH02I170826 170822850 170823096 0.77 [{'connected_gene': 'ERICH2', 'score': 4.6}, {'connected_gene': 'GC02M170820', 'score': 0.77}, {'connected_gene': 'GAD1', 'score': 0.44}, {'connected_gene': 'GC02P170803', 'score': 0.37}, {'connected_gene': 'GC02P170876', 'score': 0.23}]
chr2 GH02I171233 171233882 171236510 0.49 [{'connected_gene': 'GAD1', 'score': 4.35}, {'connected_gene': 'TLK1', 'score': 0.77}, {'connected_gene': 'GC02P171227', 'score': 0.44}, {'connected_gene': 'GC02M171274', 'score': 0.28}]
chr2 GH02I171341 171341682 171343216 0.31 [{'connected_gene': 'GAD1', 'score': 5.55}, {'connected_gene': 'GC02M171300', 'score': 0.77}, {'connected_gene': 'GC02M171375', 'score': 0.29}, {'connected_gene': 'METTL8', 'score': 0.16}]
chr2 GH02I170711 170711144 170712621 1.14 [{'connected_gene': 'GAD1', 'score': 7.42}, {'connected_gene': 'LINC01124', 'score': 0.77}, {'connected_gene': 'GC02M170693', 'score': 0.44}, {'connected_gene': 'LOC101926913', 'score': 0.22}]
chr2 GH02I170815 170815811 170815980 0.87 [{'connected_gene': 'GAD1', 'score': 23.19}, {'connected_gene': 'DAP3P2', 'score': 14.27}, {'connected_gene': 'RPS15P4', 'score': 11.91}, {'connected_gene': 'DCAF17', 'score': 10.36}, {'connected_gene': 'ENSG00000235934', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.39}]
chr2 GH02I170817 170816331 170817948 1.91 [{'connected_gene': 'GAD1', 'score': 579.08}, {'connected_gene': 'ENSG00000235934', 'score': 550.77}, {'connected_gene': 'ERICH2', 'score': 4.6}, {'connected_gene': 'GC02P170803', 'score': 0.39}]
chr2 GH02I170353 170353996 170355816 0.59 [{'connected_gene': 'GAD1', 'score': 10.98}, {'connected_gene': 'ENSG00000235934', 'score': 10.97}, {'connected_gene': 'GC02P170379', 'score': 0.34}, {'connected_gene': 'GC02P170306', 'score': 0.25}, {'connected_gene': 'LOC101929753', 'score': 0.23}, {'connected_gene': 'MYO3B', 'score': 0.1}]
chr2 GH02I170324 170324671 170324920 0.81 [{'connected_gene': 'GAD1', 'score': 11.66}, {'connected_gene': 'ENSG00000235934', 'score': 11.66}, {'connected_gene': 'LOC101929753', 'score': 10.99}, {'connected_gene': 'GC02P170306', 'score': 0.37}, {'connected_gene': 'GC02P170379', 'score': 0.23}, {'connected_gene': 'MYO3B', 'score': 0.11}]
chr2 GH02I170370 170370331 170370480 0.49 [{'connected_gene': 'GAD1', 'score': 21.42}, {'connected_gene': 'ENSG00000235934', 'score': 11.88}, {'connected_gene': 'GC02P170379', 'score': 0.44}, {'connected_gene': 'LOC101929753', 'score': 0.28}, {'connected_gene': 'GC02P170306', 'score': 0.21}, {'connected_gene': 'MYO3B', 'score': 0.08}]
chr2 GH02I170747 170747382 170748720 0.95 [{'connected_gene': 'GAD1', 'score': 11.09}, {'connected_gene': 'LOC101926913', 'score': 5.66}, {'connected_gene': 'EIF2S2P4', 'score': 0.77}, {'connected_gene': 'SP5', 'score': 0.29}]
chr2 GH02I170764 170764156 170765834 0.64 [{'connected_gene': 'GAD1', 'score': 13.76}, {'connected_gene': 'GC02M170760', 'score': 0.77}, {'connected_gene': 'LOC101926913', 'score': 0.44}, {'connected_gene': 'ERICH2', 'score': 0.44}]
chr2 GH02I170842 170842689 170844282 0.46 [{'connected_gene': 'GAD1', 'score': 12.74}, {'connected_gene': 'GC02M170820', 'score': 0.34}, {'connected_gene': 'GC02P170876', 'score': 0.29}]
chr2 GH02I170824 170823595 170824046 0.38 [{'connected_gene': 'GAD1', 'score': 8.88}, {'connected_gene': 'GC02M170820', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.34}, {'connected_gene': 'GC02P170876', 'score': 0.23}]
chr2 GH02I170827 170823239 170823584 0.76 [{'connected_gene': 'GAD1', 'score': 10.56}, {'connected_gene': 'GC02M170820', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.37}, {'connected_gene': 'GC02P170876', 'score': 0.23}]
chr2 GH02I170814 170814231 170814380 0.72 [{'connected_gene': 'GAD1', 'score': 564.3}, {'connected_gene': 'ENSG00000235934', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.39}]
chr2 GH02I170812 170812831 170812980 0.69 [{'connected_gene': 'GAD1', 'score': 550.77}, {'connected_gene': 'GC02P170803', 'score': 0.44}]
chr2 GH02I170408 170408601 170409600 1.05 [{'connected_gene': 'LOC101929753', 'score': 550.77}, {'connected_gene': 'MYO3B', 'score': 6.51}, {'connected_gene': 'GAD1', 'score': 4.55}, {'connected_gene': 'GC02M170400', 'score': 0.77}]
chr2 GH02I170743 170743338 170745241 1.2 [{'connected_gene': 'LOC101926913', 'score': 14.72}, {'connected_gene': 'GAD1', 'score': 11.86}, {'connected_gene': 'EIF2S2P4', 'score': 0.44}, {'connected_gene': 'SP5', 'score': 0.31}]
chr2 GH02I170737 170737824 170740115 0.74 [{'connected_gene': 'LOC101926913', 'score': 23.6}, {'connected_gene': 'GAD1', 'score': 13.7}, {'connected_gene': 'SP5', 'score': 11.58}, {'connected_gene': 'LINC01124', 'score': 11.58}, {'connected_gene': 'EIF2S2P4', 'score': 0.39}]
chr2 GH02I170820 170820251 170820400 0.52 [{'connected_gene': 'GC02M170820', 'score': 550.77}, {'connected_gene': 'DCAF17', 'score': 13.95}, {'connected_gene': 'GAD1', 'score': 13.72}, {'connected_gene': 'ENSG00000235934', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.37}]
chr2 GH02I170816 170816113 170816220 0.8 [{'connected_gene': 'ENSG00000235934', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 14.27}, {'connected_gene': 'RPS15P4', 'score': 11.91}, {'connected_gene': 'DCAF17', 'score': 10.36}, {'connected_gene': 'GAD1', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.39}]
chr2 GH02I170394 170394791 170394940 0.43 [{'connected_gene': 'ENSG00000235934', 'score': 10.35}, {'connected_gene': 'GAD1', 'score': 10.35}, {'connected_gene': 'LOC101929753', 'score': 0.39}, {'connected_gene': 'GC02P170379', 'score': 0.37}, {'connected_gene': 'MYO3B', 'score': 0.08}]
chr2 GH02I170822 170821825 170822085 0.31 [{'connected_gene': 'GC02M170820', 'score': 550.77}, {'connected_gene': 'GAD1', 'score': 21.01}, {'connected_gene': 'GC02P170803', 'score': 0.37}, {'connected_gene': 'GC02P170876', 'score': 0.23}]
chr2 GH02I170872 170872927 170873980 1.12 [{'connected_gene': 'ENSG00000235934', 'score': 11.29}, {'connected_gene': 'GAD1', 'score': 11.28}, {'connected_gene': 'GC02P170876', 'score': 0.77}, {'connected_gene': 'GC02M170820', 'score': 0.23}]
chr2 GH02I170823 170822359 170822791 0.54 [{'connected_gene': 'GC02M170820', 'score': 550.77}, {'connected_gene': 'GAD1', 'score': 0.44}, {'connected_gene': 'GC02P170803', 'score': 0.37}, {'connected_gene': 'GC02P170876', 'score': 0.23}]
chr2 GH02I170821 170821001 170821200 0.69 [{'connected_gene': 'GC02M170820', 'score': 550.77}, {'connected_gene': 'GAD1', 'score': 0.44}, {'connected_gene': 'GC02P170803', 'score': 0.37}, {'connected_gene': 'GC02P170876', 'score': 0.22}]
chr2 GH02I170848 170848711 170848860 0.2 [{'connected_gene': 'ENSG00000235934', 'score': 11.24}, {'connected_gene': 'GAD1', 'score': 11.22}, {'connected_gene': 'GC02M170820', 'score': 0.31}, {'connected_gene': 'GC02P170876', 'score': 0.31}]
chr2 GH02I170825 170821621 170821820 0.31 [{'connected_gene': 'GC02M170820', 'score': 550.77}, {'connected_gene': 'GAD1', 'score': 13.94}, {'connected_gene': 'GC02P170803', 'score': 0.37}, {'connected_gene': 'GC02P170876', 'score': 0.23}]
chr2 GH02I170885 170885509 170887100 0.64 [{'connected_gene': 'GC02P170887', 'score': 550.77}, {'connected_gene': 'GAD1', 'score': 7.1}, {'connected_gene': 'GC02P170876', 'score': 0.44}]

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