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
ENST00000377705 [[6581406, 6586063], [6586755, 6586889], [6589053, 6589231], [6592027, 6592139], [6592522, 6592820], [6593339, 6593501], [6601889, 6601987], [6604885, 6604982], [6605104, 6605240], [6609630, 6609758], [6610455, 6610675], [6614166, 6614595]] [[6585913, 6586063], [6586755, 6586889], [6589053, 6589231], [6592027, 6592139], [6592522, 6592820], [6593339, 6593501], [6601889, 6601987], [6604885, 6604982], [6605104, 6605240], [6609630, 6609758], [6610455, 6610675], [6614166, 6614562]]
ENST00000464383 [[6592054, 6592139], [6592522, 6592820], [6593339, 6593501], [6601889, 6601987], [6604885, 6605077]] None
ENST00000462798 [[6592288, 6592820], [6593339, 6593445]] None
ENST00000460777 [[6609315, 6609758], [6610455, 6610548]] None
ENST00000464665 [[6609421, 6609758], [6614166, 6614560]] None
NM_024654 [[6581406, 6586063], [6586755, 6586889], [6589053, 6589231], [6592027, 6592139], [6592522, 6592820], [6593339, 6593501], [6601889, 6601987], [6604885, 6604982], [6605104, 6605240], [6609630, 6609758], [6610455, 6610675], [6614166, 6614658]] [[6585913, 6586063], [6586755, 6586889], [6589053, 6589231], [6592027, 6592139], [6592522, 6592820], [6593339, 6593501], [6601889, 6601987], [6604885, 6604982], [6605104, 6605240], [6609630, 6609758], [6610455, 6610675], [6614166, 6614562]]
Promoter
Chrom Start End Description
chr1 6614565 6614602 CAGE_peak_1_at_NOL9_5end
chr1 6614821 6614842 CAGE_peak_3_at_NOL9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006598 6598774 6605649 2.65 [{'connected_gene': 'KLHL21', 'score': 579.98}, {'connected_gene': 'PIR47122', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 40.05}, {'connected_gene': 'RPL22', 'score': 27.12}, {'connected_gene': 'ZBTB48', 'score': 14.33}, {'connected_gene': 'NOL9', 'score': 11.77}, {'connected_gene': 'PHF13', 'score': 10.33}, {'connected_gene': 'PIR44711', 'score': 0.44}]
chr1 GH01I006404 6404761 6404910 0.98 [{'connected_gene': 'THAP3', 'score': 131.34}, {'connected_gene': 'NOL9', 'score': 113.68}, {'connected_gene': 'RPL22', 'score': 38.11}, {'connected_gene': 'CAMTA1-DT', 'score': 29.32}, {'connected_gene': 'LOC102724450', 'score': 22.73}, {'connected_gene': 'PHF13', 'score': 21.95}, {'connected_gene': 'ZBTB48', 'score': 21.48}, {'connected_gene': 'CAMTA1', 'score': 19.37}, {'connected_gene': 'NPHP4', 'score': 19.31}, {'connected_gene': 'GC01M006398', 'score': 0.44}, {'connected_gene': 'HES2', 'score': 0.37}]
chr1 GH01I007477 7477361 7479906 1.15 [{'connected_gene': 'THAP3', 'score': 14.85}, {'connected_gene': 'NOL9', 'score': 12.29}, {'connected_gene': 'LOC101928836', 'score': 11.28}, {'connected_gene': 'ENSG00000237365', 'score': 9.55}, {'connected_gene': 'GC01M007489', 'score': 0.39}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I007498 7498389 7498665 0.72 [{'connected_gene': 'THAP3', 'score': 35.01}, {'connected_gene': 'SLC45A1', 'score': 28.12}, {'connected_gene': 'ENSG00000236266', 'score': 20.21}, {'connected_gene': 'NOL9', 'score': 19.07}, {'connected_gene': 'PHF13', 'score': 16.55}, {'connected_gene': 'PER3', 'score': 13.65}, {'connected_gene': 'CAMTA1', 'score': 11.79}, {'connected_gene': 'LOC105376691', 'score': 0.77}, {'connected_gene': 'GC01M007489', 'score': 0.44}]
chr1 GH01I006523 6523681 6523850 0.72 [{'connected_gene': 'THAP3', 'score': 10.63}, {'connected_gene': 'PHF13', 'score': 9.92}, {'connected_gene': 'KLHL21', 'score': 9.92}, {'connected_gene': 'PLEKHG5', 'score': 0.77}, {'connected_gene': 'RNU6-731P', 'score': 0.37}, {'connected_gene': 'NOL9', 'score': 0.29}]
chr1 GH01I007297 7297285 7303104 1.62 [{'connected_gene': 'PER3', 'score': 13.89}, {'connected_gene': 'THAP3', 'score': 11.66}, {'connected_gene': 'NOL9', 'score': 10.46}, {'connected_gene': 'LOC101928836', 'score': 10.27}, {'connected_gene': 'GC01M007245', 'score': 0.26}, {'connected_gene': 'CAMTA1-IT1', 'score': 0.2}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I006293 6293628 6295795 0.99 [{'connected_gene': 'ESPN', 'score': 17.97}, {'connected_gene': 'THAP3', 'score': 14.88}, {'connected_gene': 'NOL9', 'score': 12.33}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'NPHP4', 'score': 9.9}, {'connected_gene': 'ZBTB48', 'score': 3.67}, {'connected_gene': 'GPR153', 'score': 2.23}, {'connected_gene': 'ACOT7', 'score': 1.52}, {'connected_gene': 'GC01P006262', 'score': 0.29}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006347 6347561 6349745 1.26 [{'connected_gene': 'ESPN', 'score': 16.14}, {'connected_gene': 'NOL9', 'score': 10.81}, {'connected_gene': 'THAP3', 'score': 10.34}, {'connected_gene': 'ENSG00000271746', 'score': 0.26}, {'connected_gene': 'ACOT7', 'score': 0.25}, {'connected_gene': 'GC01P006262', 'score': 0.17}]
chr1 GH01I006422 6422737 6425891 1.62 [{'connected_gene': 'ESPN', 'score': 579.78}, {'connected_gene': 'HES2', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 14.15}, {'connected_gene': 'NOL9', 'score': 11.85}, {'connected_gene': 'RNF207', 'score': 10.7}, {'connected_gene': 'LOC102724450', 'score': 10.7}, {'connected_gene': 'RPL22', 'score': 10.7}, {'connected_gene': 'THAP3', 'score': 10.37}, {'connected_gene': 'ACOT7', 'score': 6.48}, {'connected_gene': 'GC01M006398', 'score': 0.34}]
chr1 GH01I006587 6587455 6588994 0.58 [{'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'KLHL21', 'score': 12.52}, {'connected_gene': 'PHF13', 'score': 12.52}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'THAP3', 'score': 11.55}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'GC01M006590', 'score': 0.77}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1 GH01I006553 6553015 6555865 2.07 [{'connected_gene': 'NOL9', 'score': 550.77}, {'connected_gene': 'TAS1R1', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 25.71}, {'connected_gene': 'PLEKHG5', 'score': 16.5}, {'connected_gene': 'ZBTB48', 'score': 15.33}, {'connected_gene': 'PHF13', 'score': 10.83}, {'connected_gene': 'ENSG00000229519', 'score': 0.44}]
chr1 GH01I006527 6527340 6529974 0.31 [{'connected_gene': 'NOL9', 'score': 20.02}, {'connected_gene': 'PLEKHG5', 'score': 18.82}, {'connected_gene': 'TAS1R1', 'score': 11.74}, {'connected_gene': 'KLHL21', 'score': 11.0}, {'connected_gene': 'PHF13', 'score': 11.0}, {'connected_gene': 'RNU6-731P', 'score': 0.39}]
chr1 GH01I007401 7401223 7403918 1.39 [{'connected_gene': 'NOL9', 'score': 22.41}, {'connected_gene': 'LOC102725193', 'score': 12.36}, {'connected_gene': 'THAP3', 'score': 11.95}, {'connected_gene': 'LOC101928836', 'score': 10.84}, {'connected_gene': 'GC01M007403', 'score': 0.77}, {'connected_gene': 'CAMTA1', 'score': 0.03}]
chr1 GH01I007264 7264858 7268530 1.53 [{'connected_gene': 'NOL9', 'score': 10.76}, {'connected_gene': 'LOC101928836', 'score': 10.62}, {'connected_gene': 'THAP3', 'score': 10.3}, {'connected_gene': 'ZBTB48', 'score': 10.29}, {'connected_gene': 'GC01M007245', 'score': 0.39}, {'connected_gene': 'CAMTA1-IT1', 'score': 0.15}, {'connected_gene': 'CAMTA1', 'score': 0.04}]
chr1 GH01I006487 6487571 6493544 2.42 [{'connected_gene': 'PLEKHG5', 'score': 599.25}, {'connected_gene': 'THAP3', 'score': 22.14}, {'connected_gene': 'TNFRSF25', 'score': 20.8}, {'connected_gene': 'NOL9', 'score': 13.57}, {'connected_gene': 'KLHL21', 'score': 10.64}, {'connected_gene': 'PHF13', 'score': 10.64}, {'connected_gene': 'ESPN', 'score': 7.18}]
chr1 GH01I006485 6485000 6487190 2.09 [{'connected_gene': 'PLEKHG5', 'score': 581.39}, {'connected_gene': 'THAP3', 'score': 13.19}, {'connected_gene': 'NOL9', 'score': 10.94}, {'connected_gene': 'ESPN', 'score': 8.32}, {'connected_gene': 'TNFRSF25', 'score': 0.37}]
chr1 GH01I006544 6544103 6547559 0.56 [{'connected_gene': 'PLEKHG5', 'score': 17.5}, {'connected_gene': 'RNU6-731P', 'score': 0.77}, {'connected_gene': 'ENSG00000229519', 'score': 0.77}, {'connected_gene': 'NOL9', 'score': 0.44}]
chr1 GH01I006700 6700363 6702470 2.1 [{'connected_gene': 'DNAJC11', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 36.43}, {'connected_gene': 'ZBTB48', 'score': 30.38}, {'connected_gene': 'NOL9', 'score': 18.15}, {'connected_gene': 'RPL22', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.78}, {'connected_gene': 'KLHL21', 'score': 10.19}, {'connected_gene': 'GC01M006638', 'score': 0.21}]
chr1 GH01I006204 6204261 6207175 2.27 [{'connected_gene': 'RNF207', 'score': 568.55}, {'connected_gene': 'LOC102724450', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 28.89}, {'connected_gene': 'PHF13', 'score': 14.11}, {'connected_gene': 'ZBTB48', 'score': 13.02}, {'connected_gene': 'RPL22', 'score': 12.2}, {'connected_gene': 'NOL9', 'score': 11.78}]
chr1 GH01I006259 6259681 6264315 2.35 [{'connected_gene': 'GPR153', 'score': 572.89}, {'connected_gene': 'GC01P006262', 'score': 550.77}, {'connected_gene': 'ICMT', 'score': 18.67}, {'connected_gene': 'LINC00337', 'score': 12.7}, {'connected_gene': 'RPL22', 'score': 10.53}, {'connected_gene': 'RNF207', 'score': 10.52}, {'connected_gene': 'LOC102724450', 'score': 10.52}, {'connected_gene': 'CHD5', 'score': 10.52}, {'connected_gene': 'NOL9', 'score': 10.26}, {'connected_gene': 'THAP3', 'score': 1.99}, {'connected_gene': 'ACOT7', 'score': 0.12}, {'connected_gene': 'ENSG00000271746', 'score': 0.12}]
chr1 GH01I005990 5990873 5995461 2.57 [{'connected_gene': 'NPHP4', 'score': 569.4}, {'connected_gene': 'KCNAB2', 'score': 557.84}, {'connected_gene': 'THAP3', 'score': 28.97}, {'connected_gene': 'TNFRSF25', 'score': 21.26}, {'connected_gene': 'PHF13', 'score': 21.1}, {'connected_gene': 'RPL22', 'score': 20.75}, {'connected_gene': 'ZBTB48', 'score': 19.93}, {'connected_gene': 'NOL9', 'score': 10.05}, {'connected_gene': 'CHD5', 'score': 3.38}, {'connected_gene': 'GC01M006038', 'score': 0.25}]
chr1 GH01I006233 6233275 6236706 2.02 [{'connected_gene': 'ICMT', 'score': 568.99}, {'connected_gene': 'LINC00337', 'score': 562.66}, {'connected_gene': 'ZBTB48', 'score': 21.74}, {'connected_gene': 'RPL22', 'score': 11.28}, {'connected_gene': 'THAP3', 'score': 11.15}, {'connected_gene': 'NOL9', 'score': 10.08}, {'connected_gene': 'GPR153', 'score': 7.82}, {'connected_gene': 'RNF207', 'score': 5.4}]
chr1 GH01I006391 6391996 6394636 2.02 [{'connected_gene': 'ACOT7', 'score': 564.81}, {'connected_gene': 'ENSG00000271746', 'score': 550.77}, {'connected_gene': 'ESPN', 'score': 20.13}, {'connected_gene': 'ZBTB48', 'score': 11.42}, {'connected_gene': 'THAP3', 'score': 11.17}, {'connected_gene': 'RPL22', 'score': 11.05}, {'connected_gene': 'NOL9', 'score': 10.12}, {'connected_gene': 'GC01P006262', 'score': 0.12}]
chr1 GH01I006783 6783404 6786971 2.06 [{'connected_gene': 'CAMTA1-DT', 'score': 550.77}, {'connected_gene': 'CAMTA1', 'score': 550.77}, {'connected_gene': 'PHF13', 'score': 21.17}, {'connected_gene': 'ZBTB48', 'score': 20.76}, {'connected_gene': 'NOL9', 'score': 9.75}]
chr1 GH01I006538 6538858 6539999 0.43 [{'connected_gene': 'RNU6-731P', 'score': 550.77}, {'connected_gene': 'PLEKHG5', 'score': 18.27}, {'connected_gene': 'NOL9', 'score': 0.37}]
chr1 GH01I006589 6589051 6589856 0.74 [{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 16.51}, {'connected_gene': 'PHF13', 'score': 13.06}, {'connected_gene': 'KLHL21', 'score': 13.03}, {'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1 GH01I006197 6197742 6200945 2.09 [{'connected_gene': 'GC01M006194', 'score': 550.77}, {'connected_gene': 'RPL22', 'score': 550.39}, {'connected_gene': 'PHF13', 'score': 31.47}, {'connected_gene': 'RNF207', 'score': 13.01}, {'connected_gene': 'NOL9', 'score': 11.79}, {'connected_gene': 'ZBTB48', 'score': 11.16}, {'connected_gene': 'THAP3', 'score': 10.33}]
chr1 GH01I006719 6719723 6719854 0.39 [{'connected_gene': 'GC01P006718', 'score': 550.77}, {'connected_gene': 'CAMTA1-DT', 'score': 12.05}, {'connected_gene': 'CAMTA1', 'score': 12.05}, {'connected_gene': 'NOL9', 'score': 2.87}, {'connected_gene': 'DNAJC11', 'score': 1.86}, {'connected_gene': 'LINC01672', 'score': 0.77}]

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