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
ENST00000357398 [[166095911, 166096150], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165674, 166165766], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166248818]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165674, 166165766], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
ENST00000375437 [[166095911, 166096150], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166248818]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
ENST00000283256 [[166150540, 166150645], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166248563]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
ENST00000480032 [[166150553, 166150645], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237513]] None
ENST00000375427 [[166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165674, 166165766], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246539]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165674, 166165766], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
ENST00000424833 [[166095911, 166096150], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172108]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172108]]
ENST00000486878 [[166165175, 166165304], [166165861, 166165953], [166166832, 166167255]] None
NM_001040142 [[166095911, 166096150], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166248820]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
NM_021007 [[166150340, 166150645], [166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166248820]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165861, 166165953], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
NM_001040143 [[166152282, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165674, 166165766], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166248820]] [[166152333, 166152600], [166153526, 166153645], [166164357, 166164447], [166165175, 166165304], [166165674, 166165766], [166166832, 166167105], [166168534, 166168598], [166170129, 166170271], [166170411, 166170618], [166171980, 166172268], [166179665, 166180010], [166183361, 166183494], [166187839, 166188078], [166198805, 166198979], [166201064, 166201421], [166210701, 166211181], [166221652, 166221773], [166223726, 166223881], [166226635, 166226809], [166229734, 166229857], [166231194, 166231476], [166234106, 166234160], [166237101, 166237239], [166237602, 166237707], [166243255, 166243526], [166245138, 166246334]]
Promoter
Chrom Start End Description
chr2 166095898 166095940 CAGE_peak_1_at_SCN2A_5end
chr2 166095942 166095965 CAGE_peak_2_at_SCN2A_5end
chr2 166096015 166096026 CAGE_peak_4_at_SCN2A_5end
chr2 166150556 166150594 CAGE_peak_3_at_SCN2A_5end
chr2 166152385 166152397 CAGE_peak_5_at_SCN2A_5end
chr2 166246839 166246855 CAGE_peak_6_at_SCN2A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I165606 165606415 165606580 0.23 [{'connected_gene': 'CSRNP3', 'score': 7.92}, {'connected_gene': 'SCN3A', 'score': 3.7}, {'connected_gene': 'TTC21B', 'score': 1.39}, {'connected_gene': 'SCN2A', 'score': 1.34}, {'connected_gene': 'GC02P165687', 'score': 0.18}]
chr2 GH02I165469 165469201 165470400 1.7 [{'connected_gene': 'CSRNP3', 'score': 555.78}, {'connected_gene': 'SCN2A', 'score': 4.18}, {'connected_gene': 'GC02P165687', 'score': 0.08}]
chr2 GH02I165067 165067941 165068800 1.26 [{'connected_gene': 'SCN3A', 'score': 9.61}, {'connected_gene': 'CSRNP3', 'score': 2.52}, {'connected_gene': 'SCN2A', 'score': 1.39}, {'connected_gene': 'GC02M165092', 'score': 0.34}, {'connected_gene': 'SLC38A11', 'score': 0.14}, {'connected_gene': 'ENSG00000236283', 'score': 0.07}]
chr2 GH02I165053 165053939 165061193 0.6 [{'connected_gene': 'SCN3A', 'score': 7.46}, {'connected_gene': 'SCN2A', 'score': 5.34}, {'connected_gene': 'ENSG00000235192', 'score': 4.72}, {'connected_gene': 'GC02M165092', 'score': 0.29}, {'connected_gene': 'SLC38A11', 'score': 0.15}, {'connected_gene': 'ENSG00000236283', 'score': 0.08}]
chr2 GH02I165196 165196524 165196583 0.5 [{'connected_gene': 'SCN3A', 'score': 550.44}, {'connected_gene': 'SCN2A', 'score': 10.05}, {'connected_gene': 'GC02M165149', 'score': 0.25}, {'connected_gene': 'ENSG00000236283', 'score': 0.05}]
chr2 GH02I165204 165204031 165204180 1.14 [{'connected_gene': 'SCN3A', 'score': 550.77}, {'connected_gene': 'GC02M165204', 'score': 550.77}, {'connected_gene': 'GC02M165203', 'score': 550.77}, {'connected_gene': 'SCN2A', 'score': 0.19}, {'connected_gene': 'GC02P165275', 'score': 0.19}, {'connected_gene': 'GC02P165274', 'score': 0.19}, {'connected_gene': 'ENSG00000236283', 'score': 0.05}]
chr2 GH02I165203 165203801 165204000 1.1 [{'connected_gene': 'SCN3A', 'score': 550.77}, {'connected_gene': 'GC02M165204', 'score': 550.77}, {'connected_gene': 'GC02M165203', 'score': 550.77}, {'connected_gene': 'GC02M165149', 'score': 0.23}, {'connected_gene': 'SCN2A', 'score': 0.19}, {'connected_gene': 'ENSG00000236283', 'score': 0.05}]
chr2 GH02I165384 165384046 165384116 0.22 [{'connected_gene': 'SCN2A', 'score': 3.86}, {'connected_gene': 'CSRNP3', 'score': 1.8}, {'connected_gene': 'SCN3A', 'score': 1.76}, {'connected_gene': 'GC02P165391', 'score': 0.44}, {'connected_gene': 'GC02M165331', 'score': 0.23}]
chr2 GH02I165239 165239324 165241479 1.12 [{'connected_gene': 'SCN2A', 'score': 550.14}, {'connected_gene': 'SCN3A', 'score': 10.77}, {'connected_gene': 'GC02P165275', 'score': 0.29}, {'connected_gene': 'GC02P165274', 'score': 0.29}, {'connected_gene': 'GC02M165204', 'score': 0.28}, {'connected_gene': 'GC02M165203', 'score': 0.28}]
chr2 GH02I165340 165340037 165340258 0.22 [{'connected_gene': 'SCN2A', 'score': 1.5}, {'connected_gene': 'SCN3A', 'score': 1.3}, {'connected_gene': 'GC02M165331', 'score': 0.44}, {'connected_gene': 'GC02P165391', 'score': 0.23}]
chr2 GH02I165008 165008213 165010263 0.46 [{'connected_gene': 'SCN2A', 'score': 6.14}, {'connected_gene': 'SLC38A11', 'score': 0.23}, {'connected_gene': 'GC02M165092', 'score': 0.18}, {'connected_gene': 'ENSG00000236283', 'score': 0.1}]
chr2 GH02I165044 165044842 165045239 0.38 [{'connected_gene': 'SCN2A', 'score': 4.59}, {'connected_gene': 'GC02M165092', 'score': 0.25}, {'connected_gene': 'SLC38A11', 'score': 0.17}, {'connected_gene': 'ENSG00000236283', 'score': 0.08}]
chr2 GH02I165304 165304906 165305235 0.24 [{'connected_gene': 'SCN2A', 'score': 19.09}, {'connected_gene': 'GC02P165295', 'score': 0.39}, {'connected_gene': 'GC02P165294', 'score': 0.39}, {'connected_gene': 'GC02M165331', 'score': 0.31}]
chr2 GH02I165369 165369090 165370085 0.38 [{'connected_gene': 'SCN2A', 'score': 5.4}, {'connected_gene': 'GC02P165391', 'score': 0.34}, {'connected_gene': 'GC02M165331', 'score': 0.28}]
chr2 GH02I164990 164990491 164993201 0.79 [{'connected_gene': 'SLC38A11', 'score': 12.61}, {'connected_gene': 'COBLL1', 'score': 6.46}, {'connected_gene': 'SCN2A', 'score': 5.95}, {'connected_gene': 'GC02M165092', 'score': 0.15}, {'connected_gene': 'ENSG00000236283', 'score': 0.1}]
chr2 GH02I165295 165295770 165295829 0.5 [{'connected_gene': 'GC02P165295', 'score': 550.77}, {'connected_gene': 'GC02P165294', 'score': 550.77}, {'connected_gene': 'SCN2A', 'score': 550.1}, {'connected_gene': 'GC02M165331', 'score': 0.28}]
chr2 GH02I165294 165294000 165294200 1.55 [{'connected_gene': 'GC02P165295', 'score': 550.77}, {'connected_gene': 'GC02P165294', 'score': 550.77}, {'connected_gene': 'SCN2A', 'score': 550.1}, {'connected_gene': 'GC02M165331', 'score': 0.28}]
chr2 GH02I165293 165293831 165293980 0.75 [{'connected_gene': 'GC02P165295', 'score': 550.77}, {'connected_gene': 'GC02P165294', 'score': 550.77}, {'connected_gene': 'MAPRE1P3', 'score': 0.44}, {'connected_gene': 'SCN2A', 'score': 0.1}]

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