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
ENST00000263238 [[114647536, 114647900], [114670748, 114670804], [114674460, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114720173]] [[114647856, 114647900], [114670748, 114670804], [114674460, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715032]]
ENST00000443297 [[114647639, 114647900], [114674460, 114674585], [114684921, 114685032], [114688877, 114688946]] [[114647856, 114647900], [114674460, 114674473]]
ENST00000415792 [[114647669, 114647900], [114670748, 114670804], [114688877, 114688973], [114691855, 114691963], [114697535, 114697720]] [[114647856, 114647900], [114670748, 114670804], [114688877, 114688882]]
ENST00000446821 [[114647674, 114647900], [114670748, 114670804], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699839]] [[114647856, 114647900], [114670748, 114670804], [114684921, 114684947]]
ENST00000536059 [[114647686, 114647900], [114670748, 114670804], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715147]] [[114670765, 114670804], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715032]]
ENST00000535589 [[114648174, 114648355], [114670748, 114670804], [114674460, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715168]] [[114674513, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715032]]
ENST00000489779 [[114684945, 114685032], [114688877, 114688973], [114691855, 114692217]] None
ENST00000484165 [[114691432, 114691963], [114697535, 114697680]] None
ENST00000478928 [[114708400, 114709148], [114709296, 114713283], [114714936, 114716166]] None
NR_102318 [[114647510, 114647900], [114670748, 114670804], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114719131]] None
NM_005721 [[114647510, 114647900], [114670748, 114670804], [114674460, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114719131]] [[114647856, 114647900], [114670748, 114670804], [114674460, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715032]]
NM_001277140 [[114648174, 114648355], [114670748, 114670804], [114674460, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114719131]] [[114674513, 114674585], [114684921, 114685032], [114688877, 114688973], [114691855, 114691963], [114697535, 114697679], [114699762, 114699936], [114709055, 114709148], [114709296, 114709422], [114713199, 114713283], [114714936, 114715032]]
Promoter
Chrom Start End Description
chr2 114647504 114647557 CAGE_peak_2_at_ACTR3_5end
chr2 114647617 114647739 CAGE_peak_1_at_ACTR3_5end
chr2 114647785 114647796 CAGE_peak_4_at_ACTR3_5end
chr2 114647818 114647820 CAGE_peak_15_at_ACTR3_5end
chr2 114691822 114691837 CAGE_peak_3_at_ACTR3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I113603 113602822 113602893 0.38 [{'connected_gene': 'DDX11L2', 'score': 556.13}, {'connected_gene': 'bA395L14.12', 'score': 5.91}, {'connected_gene': 'ACTR3', 'score': 4.65}, {'connected_gene': 'WASH2P', 'score': 0.37}]
chr2 GH02I113897 113897601 113898477 0.63 [{'connected_gene': 'LINC01191', 'score': 5.82}, {'connected_gene': 'RPL23AP7', 'score': 5.8}, {'connected_gene': 'ENSG00000279957', 'score': 0.44}, {'connected_gene': 'LOC101060091', 'score': 0.44}, {'connected_gene': 'ACTR3', 'score': 0.44}]
chr2 GH02I113760 113760434 113763580 0.49 [{'connected_gene': 'RPL23AP7', 'score': 19.54}, {'connected_gene': 'ACTR3', 'score': 17.92}, {'connected_gene': 'DDX11L2', 'score': 15.32}, {'connected_gene': 'ENSG00000227359', 'score': 9.09}, {'connected_gene': 'SLC35F5', 'score': 0.44}, {'connected_gene': 'GC02M113811', 'score': 0.23}]
chr2 GH02I113776 113776568 113778175 0.31 [{'connected_gene': 'RPL23AP7', 'score': 13.33}, {'connected_gene': 'ENSG00000227359', 'score': 9.33}, {'connected_gene': 'ACTR3', 'score': 7.77}, {'connected_gene': 'SLC35F5', 'score': 6.49}, {'connected_gene': 'DDX11L2', 'score': 5.16}, {'connected_gene': 'GC02M113811', 'score': 0.28}]
chr2 GH02I113817 113817794 113819757 1 [{'connected_gene': 'LOC105373570', 'score': 550.77}, {'connected_gene': 'SLC35F5', 'score': 25.48}, {'connected_gene': 'ENSG00000228857', 'score': 19.31}, {'connected_gene': 'ACTR3', 'score': 15.74}, {'connected_gene': 'RPL23AP7', 'score': 5.41}, {'connected_gene': 'GC02M113811', 'score': 0.44}]
chr2 GH02I113323 113323680 113326058 1.27 [{'connected_gene': 'LOC101927400', 'score': 584.82}, {'connected_gene': 'LOC105373567', 'score': 550.77}, {'connected_gene': 'PAX8', 'score': 11.57}, {'connected_gene': 'PAX8-AS1', 'score': 11.46}, {'connected_gene': 'PSD4', 'score': 10.75}, {'connected_gene': 'CBWD2', 'score': 7.33}, {'connected_gene': 'ACTR3', 'score': 5.9}]
chr2 GH02I113895 113895824 113895973 0.51 [{'connected_gene': 'LOC101060091', 'score': 0.77}, {'connected_gene': 'ENSG00000279957', 'score': 0.44}, {'connected_gene': 'ACTR3', 'score': 0.44}]
chr2 GH02I114021 114021914 114023255 0.74 [{'connected_gene': 'ACTR3', 'score': 5.95}, {'connected_gene': 'DDX11L2', 'score': 5.43}, {'connected_gene': 'ENSG00000212182', 'score': 0.37}, {'connected_gene': 'GC02M114006', 'score': 0.37}, {'connected_gene': 'ENSG00000235242', 'score': 0.15}]
chr2 GH02I113969 113969988 113973274 0.38 [{'connected_gene': 'ACTR3', 'score': 19.15}, {'connected_gene': 'SLC35F5', 'score': 17.2}, {'connected_gene': 'ENSG00000228857', 'score': 7.46}, {'connected_gene': 'ENSG00000243179', 'score': 6.49}, {'connected_gene': 'LINC01191', 'score': 6.31}, {'connected_gene': 'RPL23AP7', 'score': 6.13}, {'connected_gene': 'GC02P113964', 'score': 0.44}]
chr2 GH02I113857 113857442 113858000 0.92 [{'connected_gene': 'ACTR3', 'score': 16.98}, {'connected_gene': 'SLC35F5', 'score': 5.82}, {'connected_gene': 'CBWD2', 'score': 1.31}, {'connected_gene': 'ENSG00000228857', 'score': 0.39}, {'connected_gene': 'LOC101060091', 'score': 0.29}, {'connected_gene': 'ENSG00000270019', 'score': 0.29}]
chr2 GH02I113951 113951998 113955754 0.2 [{'connected_gene': 'ACTR3', 'score': 20.87}, {'connected_gene': 'ENSG00000228857', 'score': 7.53}, {'connected_gene': 'LINC01191', 'score': 6.49}, {'connected_gene': 'RPL23AP7', 'score': 5.85}, {'connected_gene': 'GC02P113964', 'score': 0.44}, {'connected_gene': 'ENSG00000279957', 'score': 0.25}]
chr2 GH02I113965 113965989 113967728 1.27 [{'connected_gene': 'ACTR3', 'score': 19.81}, {'connected_gene': 'ENSG00000244063', 'score': 12.38}, {'connected_gene': 'LINC01191', 'score': 5.92}, {'connected_gene': 'GC02P113964', 'score': 0.77}]
chr2 GH02I113942 113942582 113945973 0.56 [{'connected_gene': 'ACTR3', 'score': 20.61}, {'connected_gene': 'ENSG00000244063', 'score': 12.4}, {'connected_gene': 'RPL23AP7', 'score': 6.87}, {'connected_gene': 'LINC01191', 'score': 6.37}, {'connected_gene': 'GC02P113964', 'score': 0.37}, {'connected_gene': 'ENSG00000279957', 'score': 0.26}]
chr2 GH02I113937 113937087 113939302 0.43 [{'connected_gene': 'ACTR3', 'score': 21.2}, {'connected_gene': 'ENSG00000244063', 'score': 12.4}, {'connected_gene': 'RPL23AP7', 'score': 5.57}, {'connected_gene': 'GC02P113964', 'score': 0.31}, {'connected_gene': 'ENSG00000279957', 'score': 0.29}]
chr2 GH02I113923 113923180 113924222 0.92 [{'connected_gene': 'ACTR3', 'score': 21.46}, {'connected_gene': 'ENSG00000244063', 'score': 7.39}, {'connected_gene': 'ENSG00000228857', 'score': 7.28}, {'connected_gene': 'RPL23AP7', 'score': 5.85}, {'connected_gene': 'ENSG00000279957', 'score': 0.37}, {'connected_gene': 'GC02P113964', 'score': 0.26}]
chr2 GH02I113910 113910001 113910600 0.72 [{'connected_gene': 'ACTR3', 'score': 12.22}, {'connected_gene': 'ENSG00000244063', 'score': 10.83}, {'connected_gene': 'RPL23AP7', 'score': 5.86}, {'connected_gene': 'ENSG00000279957', 'score': 0.44}, {'connected_gene': 'GC02P113964', 'score': 0.23}]
chr2 GH02I113699 113699801 113700600 1.2 [{'connected_gene': 'ACTR3', 'score': 7.81}, {'connected_gene': 'ENSG00000227359', 'score': 0.77}, {'connected_gene': 'RNU6-744P', 'score': 0.37}]
chr2 GH02I113826 113826444 113826593 0.43 [{'connected_gene': 'ACTR3', 'score': 10.41}, {'connected_gene': 'ENSG00000244063', 'score': 0.77}, {'connected_gene': 'LOC105373570', 'score': 0.44}]
chr2 GH02I113824 113824268 113824468 0.46 [{'connected_gene': 'ACTR3', 'score': 22.12}, {'connected_gene': 'ENSG00000244063', 'score': 0.44}, {'connected_gene': 'LOC105373570', 'score': 0.44}]
chr2 GH02I113885 113885943 113895734 2.62 [{'connected_gene': 'ACTR3', 'score': 570.59}, {'connected_gene': 'LOC101060091', 'score': 550.77}, {'connected_gene': 'ENSG00000270019', 'score': 550.77}, {'connected_gene': 'SLC35F5', 'score': 14.2}, {'connected_gene': 'WASH2P', 'score': 12.93}, {'connected_gene': 'ENSG00000244063', 'score': 10.88}, {'connected_gene': 'LINC01191', 'score': 6.47}, {'connected_gene': 'RPL23AP7', 'score': 5.93}, {'connected_gene': 'DDX11L2', 'score': 4.89}, {'connected_gene': 'CBWD2', 'score': 2.93}]
chr2 GH02I113900 113900911 113901548 0.89 [{'connected_gene': 'ACTR3', 'score': 9.51}, {'connected_gene': 'ENSG00000279957', 'score': 0.77}, {'connected_gene': 'LOC101060091', 'score': 0.39}]
chr2 GH02I113851 113851758 113852159 0.2 [{'connected_gene': 'ACTR3', 'score': 18.6}, {'connected_gene': 'ENSG00000228857', 'score': 0.44}, {'connected_gene': 'LOC101060091', 'score': 0.28}, {'connected_gene': 'ENSG00000270019', 'score': 0.28}]
chr2 GH02I113868 113868401 113868600 0.51 [{'connected_gene': 'ACTR3', 'score': 19.73}, {'connected_gene': 'ENSG00000228857', 'score': 11.96}, {'connected_gene': 'ENSG00000244063', 'score': 6.16}, {'connected_gene': 'LOC101060091', 'score': 0.34}, {'connected_gene': 'ENSG00000270019', 'score': 0.34}]
chr2 GH02I113922 113922904 113923053 0.63 [{'connected_gene': 'ACTR3', 'score': 11.96}, {'connected_gene': 'ENSG00000279957', 'score': 0.37}, {'connected_gene': 'GC02P113964', 'score': 0.26}]
chr2 GH02I113702 113702729 113704263 0.43 [{'connected_gene': 'ENSG00000227359', 'score': 550.77}, {'connected_gene': 'DDX11L2', 'score': 30.56}, {'connected_gene': 'SLC35F5', 'score': 14.62}, {'connected_gene': 'RNU6-744P', 'score': 12.03}, {'connected_gene': 'ACTR3', 'score': 8.04}]
chr2 GH02I113905 113905436 113907627 0.52 [{'connected_gene': 'ENSG00000244063', 'score': 26.38}, {'connected_gene': 'SLC35F5', 'score': 15.47}, {'connected_gene': 'RPL23AP7', 'score': 5.86}, {'connected_gene': 'LINC01191', 'score': 5.12}, {'connected_gene': 'ENSG00000279957', 'score': 0.77}, {'connected_gene': 'ACTR3', 'score': 0.37}, {'connected_gene': 'GC02P113964', 'score': 0.22}]
chr2 GH02I113976 113976967 113979913 1.18 [{'connected_gene': 'ENSG00000243179', 'score': 559.59}, {'connected_gene': 'LINC01191', 'score': 550.77}, {'connected_gene': 'LOC100499194', 'score': 550.77}, {'connected_gene': 'ACTR3', 'score': 9.5}, {'connected_gene': 'ENSG00000244063', 'score': 8.63}, {'connected_gene': 'RPL23AP7', 'score': 5.8}, {'connected_gene': 'ENSG00000228857', 'score': 4.77}, {'connected_gene': 'SLC35F5', 'score': 4.69}, {'connected_gene': 'GC02P113964', 'score': 0.39}]
chr2 GH02I113903 113903401 113903600 0.4 [{'connected_gene': 'ENSG00000279957', 'score': 550.77}, {'connected_gene': 'LOC101060091', 'score': 0.39}, {'connected_gene': 'ACTR3', 'score': 0.39}]
chr2 GH02I113864 113864551 113866602 0.2 [{'connected_gene': 'ENSG00000244063', 'score': 18.47}, {'connected_gene': 'ACTR3', 'score': 11.95}, {'connected_gene': 'SLC35F5', 'score': 8.26}, {'connected_gene': 'RPL23AP7', 'score': 4.93}, {'connected_gene': 'ENSG00000228857', 'score': 0.34}, {'connected_gene': 'ENSG00000270019', 'score': 0.34}, {'connected_gene': 'LOC101060091', 'score': 0.31}]
chr2 GH02I113876 113875978 113879232 1.53 [{'connected_gene': 'ENSG00000228857', 'score': 10.99}, {'connected_gene': 'ENSG00000244063', 'score': 10.91}, {'connected_gene': 'ACTR3', 'score': 8.15}, {'connected_gene': 'SLC35F5', 'score': 6.57}, {'connected_gene': 'RPL23AP7', 'score': 5.39}, {'connected_gene': 'LOC101060091', 'score': 0.39}, {'connected_gene': 'ENSG00000270019', 'score': 0.39}]
chr2 GH02I113842 113842583 113844393 0.56 [{'connected_gene': 'ENSG00000228857', 'score': 550.77}, {'connected_gene': 'ENSG00000244063', 'score': 33.83}, {'connected_gene': 'ACTR3', 'score': 19.66}, {'connected_gene': 'SLC35F5', 'score': 6.49}, {'connected_gene': 'RPL23AP7', 'score': 5.84}, {'connected_gene': 'LOC101060091', 'score': 0.25}, {'connected_gene': 'ENSG00000270019', 'score': 0.25}]
chr2 GH02I113911 113911940 113914024 0.31 [{'connected_gene': 'ENSG00000244063', 'score': 29.73}, {'connected_gene': 'ACTR3', 'score': 21.33}, {'connected_gene': 'SLC35F5', 'score': 15.46}, {'connected_gene': 'ENSG00000228857', 'score': 7.6}, {'connected_gene': 'RPL23AP7', 'score': 5.8}, {'connected_gene': 'ENSG00000279957', 'score': 0.44}, {'connected_gene': 'GC02P113964', 'score': 0.23}]
chr2 GH02I113862 113862201 113863712 0.71 [{'connected_gene': 'ENSG00000244063', 'score': 30.41}, {'connected_gene': 'ACTR3', 'score': 11.61}, {'connected_gene': 'SLC35F5', 'score': 5.81}, {'connected_gene': 'ENSG00000228857', 'score': 0.37}, {'connected_gene': 'LOC101060091', 'score': 0.31}, {'connected_gene': 'ENSG00000270019', 'score': 0.31}]
chr2 GH02I113791 113791801 113792400 0.91 [{'connected_gene': 'ENSG00000228857', 'score': 11.49}, {'connected_gene': 'ACTR3', 'score': 10.99}, {'connected_gene': 'SLC35F5', 'score': 4.94}, {'connected_gene': 'GC02M113811', 'score': 0.34}]
chr2 GH02I113898 113898801 113900600 0.58 [{'connected_gene': 'ENSG00000244063', 'score': 29.67}, {'connected_gene': 'ACTR3', 'score': 9.93}, {'connected_gene': 'LINC01191', 'score': 5.83}, {'connected_gene': 'RPL23AP7', 'score': 5.8}, {'connected_gene': 'ENSG00000279957', 'score': 0.77}, {'connected_gene': 'LOC101060091', 'score': 0.44}]
chr2 GH02I113925 113925294 113927546 0.46 [{'connected_gene': 'ENSG00000244063', 'score': 25.64}, {'connected_gene': 'ACTR3', 'score': 20.75}, {'connected_gene': 'ENSG00000228857', 'score': 7.25}, {'connected_gene': 'LINC01191', 'score': 5.88}, {'connected_gene': 'RPL23AP7', 'score': 5.84}, {'connected_gene': 'ENSG00000279957', 'score': 0.34}, {'connected_gene': 'GC02P113964', 'score': 0.28}]
chr2 GH02I113916 113916616 113918097 0.31 [{'connected_gene': 'ENSG00000244063', 'score': 29.41}, {'connected_gene': 'ACTR3', 'score': 12.19}, {'connected_gene': 'LINC01191', 'score': 5.49}, {'connected_gene': 'ENSG00000279957', 'score': 0.39}, {'connected_gene': 'GC02P113964', 'score': 0.25}]
chr2 GH02I113927 113927916 113933327 0.2 [{'connected_gene': 'ENSG00000244063', 'score': 29.62}, {'connected_gene': 'ACTR3', 'score': 21.07}, {'connected_gene': 'ENSG00000228857', 'score': 7.27}, {'connected_gene': 'LINC01191', 'score': 5.92}, {'connected_gene': 'ENSG00000279957', 'score': 0.31}, {'connected_gene': 'GC02P113964', 'score': 0.29}]
chr2 GH02I113901 113901640 113903133 0.94 [{'connected_gene': 'ENSG00000279957', 'score': 550.77}, {'connected_gene': 'ENSG00000244063', 'score': 10.83}, {'connected_gene': 'ACTR3', 'score': 8.77}, {'connected_gene': 'RPL23AP7', 'score': 5.53}, {'connected_gene': 'LINC01191', 'score': 5.11}, {'connected_gene': 'LOC101060091', 'score': 0.39}]
chr2 GH02I113858 113858160 113860251 1.52 [{'connected_gene': 'ENSG00000244063', 'score': 18.46}, {'connected_gene': 'ACTR3', 'score': 17.53}, {'connected_gene': 'RPL23AP7', 'score': 5.7}, {'connected_gene': 'CBWD2', 'score': 1.62}, {'connected_gene': 'ENSG00000228857', 'score': 0.37}, {'connected_gene': 'LOC101060091', 'score': 0.29}, {'connected_gene': 'ENSG00000270019', 'score': 0.29}]
chr2 GH02I113896 113896264 113896453 0.69 [{'connected_gene': 'ENSG00000244063', 'score': 29.53}, {'connected_gene': 'ACTR3', 'score': 8.41}, {'connected_gene': 'RPL23AP7', 'score': 6.23}, {'connected_gene': 'ENSG00000279957', 'score': 0.44}, {'connected_gene': 'LOC101060091', 'score': 0.44}]
chr2 GH02I113875 113875001 113875400 0.2 [{'connected_gene': 'ENSG00000228857', 'score': 11.13}, {'connected_gene': 'ACTR3', 'score': 8.4}, {'connected_gene': 'ENSG00000270019', 'score': 0.39}, {'connected_gene': 'LOC101060091', 'score': 0.37}]
chr2 GH02I113963 113963200 113963401 0.76 [{'connected_gene': 'GC02P113964', 'score': 550.77}, {'connected_gene': 'ACTR3', 'score': 10.7}, {'connected_gene': 'ENSG00000279957', 'score': 0.22}]
chr2 GH02I113904 113903784 113905123 0.56 [{'connected_gene': 'ENSG00000279957', 'score': 550.77}, {'connected_gene': 'ENSG00000244063', 'score': 10.83}, {'connected_gene': 'ACTR3', 'score': 0.39}, {'connected_gene': 'GC02P113964', 'score': 0.22}]

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