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
ENST00000241651 [[203052259, 203053159], [203053774, 203053856], [203054618, 203055164]] [[203053037, 203053159], [203053774, 203053856], [203054618, 203055089]]
NM_002479 [[203052256, 203053159], [203053774, 203053856], [203054618, 203055166]] [[203053037, 203053159], [203053774, 203053856], [203054618, 203055089]]
Promoter
Chrom Start End Description
chr1 203055129 203055147 CAGE_peak_1_at_MYOG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I203035 203035018 203041208 1.22 [{'connected_gene': 'ZC3H11A', 'score': 21.74}, {'connected_gene': 'HNRNPA1P59', 'score': 13.38}, {'connected_gene': 'MYOG', 'score': 11.63}, {'connected_gene': 'ADORA1', 'score': 11.61}, {'connected_gene': 'PPFIA4', 'score': 11.58}, {'connected_gene': 'MYBPH', 'score': 11.28}, {'connected_gene': 'CHI3L1', 'score': 10.99}, {'connected_gene': 'ZBED6', 'score': 10.96}, {'connected_gene': 'ENSG00000224671', 'score': 10.73}, {'connected_gene': 'KDM5B', 'score': 9.9}, {'connected_gene': 'OPTC', 'score': 9.55}, {'connected_gene': 'FMOD', 'score': 9.37}, {'connected_gene': 'LOC100131747', 'score': 9.37}, {'connected_gene': 'GC01P203013', 'score': 0.34}, {'connected_gene': 'LOC105371687', 'score': 0.31}]
chr1 GH01I203051 203051219 203052740 0.65 [{'connected_gene': 'PPFIA4', 'score': 18.3}, {'connected_gene': 'MYOG', 'score': 11.92}, {'connected_gene': 'ADORA1', 'score': 11.9}, {'connected_gene': 'MYBPH', 'score': 11.36}, {'connected_gene': 'CHI3L1', 'score': 11.13}, {'connected_gene': 'ENSG00000224671', 'score': 11.02}, {'connected_gene': 'FMOD', 'score': 9.52}, {'connected_gene': 'LOC100131747', 'score': 9.52}, {'connected_gene': 'ATP2B4', 'score': 9.37}, {'connected_gene': 'PRELP', 'score': 9.27}, {'connected_gene': 'LOC105371687', 'score': 0.37}, {'connected_gene': 'GC01P203013', 'score': 0.28}]
chr1 GH01I203057 203057515 203060400 0.72 [{'connected_gene': 'PPFIA4', 'score': 13.21}, {'connected_gene': 'MYOG', 'score': 12.01}, {'connected_gene': 'ADORA1', 'score': 11.99}, {'connected_gene': 'CHI3L1', 'score': 10.66}, {'connected_gene': 'LOC100131747', 'score': 9.74}, {'connected_gene': 'FMOD', 'score': 9.74}, {'connected_gene': 'LOC105371687', 'score': 0.44}, {'connected_gene': 'GC01P203013', 'score': 0.25}]
chr1 GH01I203075 203075001 203076692 0.76 [{'connected_gene': 'PPFIA4', 'score': 6.61}, {'connected_gene': 'LOC105371687', 'score': 0.44}, {'connected_gene': 'MYOG', 'score': 0.39}, {'connected_gene': 'GC01P203013', 'score': 0.21}]
chr1 GH01I203081 203081282 203087866 1.6 [{'connected_gene': 'MYOG', 'score': 550.77}, {'connected_gene': 'PPFIA4', 'score': 10.8}, {'connected_gene': 'ADORA1', 'score': 4.93}, {'connected_gene': 'LOC105371687', 'score': 0.37}]
chr1 GH01I203054 203054793 203054822 0.2 [{'connected_gene': 'MYOG', 'score': 11.92}, {'connected_gene': 'ADORA1', 'score': 11.9}, {'connected_gene': 'MYBPH', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 10.86}, {'connected_gene': 'ATP2B4', 'score': 9.37}, {'connected_gene': 'PRELP', 'score': 9.27}, {'connected_gene': 'FMOD', 'score': 8.85}, {'connected_gene': 'LOC100131747', 'score': 8.85}, {'connected_gene': 'LOC105371687', 'score': 0.39}, {'connected_gene': 'PPFIA4', 'score': 0.31}, {'connected_gene': 'GC01P203013', 'score': 0.26}]
chr1 GH01I203055 203055293 203055442 0.49 [{'connected_gene': 'MYOG', 'score': 11.92}, {'connected_gene': 'ADORA1', 'score': 11.9}, {'connected_gene': 'MYBPH', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 10.86}, {'connected_gene': 'ATP2B4', 'score': 9.37}, {'connected_gene': 'PRELP', 'score': 9.27}, {'connected_gene': 'FMOD', 'score': 8.85}, {'connected_gene': 'LOC100131747', 'score': 8.85}, {'connected_gene': 'LOC105371687', 'score': 0.39}, {'connected_gene': 'PPFIA4', 'score': 0.31}, {'connected_gene': 'GC01P203013', 'score': 0.26}]
chr1 GH01I203205 203205133 203208493 0.69 [{'connected_gene': 'MYBPH', 'score': 11.35}, {'connected_gene': 'ENSG00000224671', 'score': 11.04}, {'connected_gene': 'ADORA1', 'score': 10.93}, {'connected_gene': 'MYOG', 'score': 10.91}, {'connected_gene': 'PPFIA4', 'score': 10.56}, {'connected_gene': 'CHIT1', 'score': 7.89}, {'connected_gene': 'KRT8P29', 'score': 4.8}, {'connected_gene': 'CHI3L1', 'score': 0.37}, {'connected_gene': 'NPM1P40', 'score': 0.25}]
chr1 GH01I203204 203204813 203204962 0.58 [{'connected_gene': 'MYBPH', 'score': 11.37}, {'connected_gene': 'ENSG00000224671', 'score': 11.04}, {'connected_gene': 'ADORA1', 'score': 10.94}, {'connected_gene': 'MYOG', 'score': 10.91}, {'connected_gene': 'PPFIA4', 'score': 10.57}, {'connected_gene': 'CHI3L1', 'score': 0.37}, {'connected_gene': 'NPM1P40', 'score': 0.23}]
chr1 GH01I203199 203199177 203203993 1.07 [{'connected_gene': 'MYBPH', 'score': 22.06}, {'connected_gene': 'ADORA1', 'score': 21.66}, {'connected_gene': 'ENSG00000224671', 'score': 11.27}, {'connected_gene': 'ENSG00000234775', 'score': 10.84}, {'connected_gene': 'MYOG', 'score': 10.45}, {'connected_gene': 'FMOD', 'score': 9.86}, {'connected_gene': 'LOC100131747', 'score': 9.86}, {'connected_gene': 'OPTC', 'score': 9.12}, {'connected_gene': 'CHIT1', 'score': 7.57}, {'connected_gene': 'CHI3L1', 'score': 7.28}, {'connected_gene': 'KDM5B', 'score': 5.48}, {'connected_gene': 'KRT8P29', 'score': 4.84}, {'connected_gene': 'NPM1P40', 'score': 0.23}]
chr1 GH01I203189 203189240 203190698 0.43 [{'connected_gene': 'MYBPH', 'score': 11.6}, {'connected_gene': 'ENSG00000224671', 'score': 11.41}, {'connected_gene': 'ADORA1', 'score': 11.28}, {'connected_gene': 'MYOG', 'score': 10.88}, {'connected_gene': 'FMOD', 'score': 9.72}, {'connected_gene': 'LOC100131747', 'score': 9.72}, {'connected_gene': 'OPTC', 'score': 9.59}, {'connected_gene': 'CHI3L1', 'score': 6.48}, {'connected_gene': 'NPM1P40', 'score': 0.2}]
chr1 GH01I203214 203214831 203215600 0.2 [{'connected_gene': 'MYBPH', 'score': 11.86}, {'connected_gene': 'CHI3L1', 'score': 11.8}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.11}, {'connected_gene': 'MYOG', 'score': 11.04}, {'connected_gene': 'FMOD', 'score': 10.03}, {'connected_gene': 'LOC100131747', 'score': 10.03}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.26}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1 GH01I203216 203216293 203216600 0.91 [{'connected_gene': 'MYBPH', 'score': 11.85}, {'connected_gene': 'CHI3L1', 'score': 11.8}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.11}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'FMOD', 'score': 10.03}, {'connected_gene': 'LOC100131747', 'score': 10.03}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.28}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1 GH01I203196 203196062 203198807 0.79 [{'connected_gene': 'MYBPH', 'score': 23.26}, {'connected_gene': 'ENSG00000224671', 'score': 11.39}, {'connected_gene': 'CHI3L1', 'score': 11.36}, {'connected_gene': 'ADORA1', 'score': 11.27}, {'connected_gene': 'MYOG', 'score': 10.87}, {'connected_gene': 'ENSG00000234775', 'score': 10.86}, {'connected_gene': 'FMOD', 'score': 9.73}, {'connected_gene': 'LOC100131747', 'score': 9.73}, {'connected_gene': 'OPTC', 'score': 9.59}, {'connected_gene': 'NPM1P40', 'score': 0.22}]
chr1 GH01I203217 203217401 203217800 0.38 [{'connected_gene': 'MYBPH', 'score': 11.85}, {'connected_gene': 'CHI3L1', 'score': 11.78}, {'connected_gene': 'ENSG00000234775', 'score': 11.4}, {'connected_gene': 'ADORA1', 'score': 11.36}, {'connected_gene': 'ENSG00000224671', 'score': 11.1}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'LOC100131747', 'score': 10.31}, {'connected_gene': 'FMOD', 'score': 10.31}, {'connected_gene': 'OPTC', 'score': 9.56}, {'connected_gene': 'NPM1P40', 'score': 0.28}, {'connected_gene': 'CHIT1', 'score': 0.22}]
chr1 GH01I203363 203363909 203365853 0.67 [{'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 10.2}, {'connected_gene': 'MYOG', 'score': 9.92}, {'connected_gene': 'ADORA1', 'score': 9.92}, {'connected_gene': 'LINC01136', 'score': 9.76}, {'connected_gene': 'BTG2', 'score': 9.76}, {'connected_gene': 'ENSG00000224671', 'score': 9.26}, {'connected_gene': 'LOC102723529', 'score': 0.44}, {'connected_gene': 'LOC100131747', 'score': 0.39}]
chr1 GH01I203472 203472015 203473097 0.31 [{'connected_gene': 'OPTC', 'score': 11.44}, {'connected_gene': 'LOC100131747', 'score': 10.16}, {'connected_gene': 'FMOD', 'score': 10.16}, {'connected_gene': 'ADORA1', 'score': 9.76}, {'connected_gene': 'MYOG', 'score': 9.36}, {'connected_gene': 'PRELP', 'score': 0.77}, {'connected_gene': 'GC01M203439', 'score': 0.29}, {'connected_gene': 'GC01M203457', 'score': 0.25}]
chr1 GH01I203380 203380452 203382256 0.92 [{'connected_gene': 'FMOD', 'score': 11.15}, {'connected_gene': 'LOC100131747', 'score': 11.15}, {'connected_gene': 'PRELP', 'score': 10.46}, {'connected_gene': 'OPTC', 'score': 10.33}, {'connected_gene': 'MYOG', 'score': 10.24}, {'connected_gene': 'ADORA1', 'score': 10.24}, {'connected_gene': 'LOC102723529', 'score': 0.44}, {'connected_gene': 'LARP7P1', 'score': 0.37}]
chr1 GH01I203378 203378690 203380200 0.4 [{'connected_gene': 'FMOD', 'score': 11.27}, {'connected_gene': 'LOC100131747', 'score': 11.27}, {'connected_gene': 'OPTC', 'score': 10.5}, {'connected_gene': 'PRELP', 'score': 10.45}, {'connected_gene': 'ADORA1', 'score': 10.25}, {'connected_gene': 'MYOG', 'score': 10.24}, {'connected_gene': 'ENSG00000224671', 'score': 9.45}, {'connected_gene': 'LOC102723529', 'score': 0.44}, {'connected_gene': 'LARP7P1', 'score': 0.34}]
chr1 GH01I203250 203250233 203251883 0.43 [{'connected_gene': 'ADORA1', 'score': 10.98}, {'connected_gene': 'ENSG00000224671', 'score': 10.56}, {'connected_gene': 'MYOG', 'score': 10.54}, {'connected_gene': 'CHI3L1', 'score': 10.54}, {'connected_gene': 'FMOD', 'score': 10.48}, {'connected_gene': 'LOC100131747', 'score': 10.48}, {'connected_gene': 'OPTC', 'score': 10.19}, {'connected_gene': 'NPM1P40', 'score': 0.77}, {'connected_gene': 'CHIT1', 'score': 0.34}]
chr1 GH01I203132 203132978 203137697 0.59 [{'connected_gene': 'ADORA1', 'score': 23.74}, {'connected_gene': 'MYBPH', 'score': 11.68}, {'connected_gene': 'MYOG', 'score': 11.42}, {'connected_gene': 'CHI3L1', 'score': 11.09}, {'connected_gene': 'LGR6', 'score': 5.01}, {'connected_gene': 'ENSG00000234775', 'score': 0.44}, {'connected_gene': 'ENSG00000224671', 'score': 0.37}]
chr1 GH01I203158 203158799 203161615 0.2 [{'connected_gene': 'ADORA1', 'score': 15.91}, {'connected_gene': 'CHI3L1', 'score': 11.66}, {'connected_gene': 'MYOG', 'score': 11.04}, {'connected_gene': 'RABIF', 'score': 5.51}, {'connected_gene': 'ENSG00000224671', 'score': 0.44}, {'connected_gene': 'MYBPH', 'score': 0.37}]
chr1 GH01I203227 203227401 203229800 0.99 [{'connected_gene': 'CHIT1', 'score': 559.78}, {'connected_gene': 'ADORA1', 'score': 15.1}, {'connected_gene': 'CHI3L1', 'score': 11.5}, {'connected_gene': 'MYBPH', 'score': 11.27}, {'connected_gene': 'MYOG', 'score': 10.88}, {'connected_gene': 'ENSG00000224671', 'score': 10.77}, {'connected_gene': 'OPTC', 'score': 10.19}, {'connected_gene': 'LOC100131747', 'score': 10.09}, {'connected_gene': 'FMOD', 'score': 10.09}, {'connected_gene': 'PRELP', 'score': 9.66}, {'connected_gene': 'NPM1P40', 'score': 0.31}]
chr1 GH01I203161 203161638 203165255 0.57 [{'connected_gene': 'CHI3L1', 'score': 11.69}, {'connected_gene': 'ADORA1', 'score': 11.09}, {'connected_gene': 'MYOG', 'score': 11.03}, {'connected_gene': 'RABIF', 'score': 5.5}, {'connected_gene': 'MYBPH', 'score': 0.39}, {'connected_gene': 'ENSG00000224671', 'score': 0.39}]
chr1 GH01I203068 203068315 203070454 0.86 [{'connected_gene': 'LOC105371687', 'score': 550.77}, {'connected_gene': 'CHI3L1', 'score': 10.48}, {'connected_gene': 'PPFIA4', 'score': 5.53}, {'connected_gene': 'MYOG', 'score': 0.37}, {'connected_gene': 'GC01P203013', 'score': 0.22}]
chr1 GH01I203131 203131661 203131836 0.31 [{'connected_gene': 'ENSG00000224671', 'score': 12.13}, {'connected_gene': 'ADORA1', 'score': 12.05}, {'connected_gene': 'MYOG', 'score': 11.42}, {'connected_gene': 'MYBPH', 'score': 11.21}, {'connected_gene': 'CHI3L1', 'score': 11.04}, {'connected_gene': 'ENSG00000234775', 'score': 0.77}]
chr1 GH01I203130 203130796 203131072 0.2 [{'connected_gene': 'ENSG00000224671', 'score': 12.13}, {'connected_gene': 'ADORA1', 'score': 12.05}, {'connected_gene': 'MYOG', 'score': 11.44}, {'connected_gene': 'MYBPH', 'score': 11.19}, {'connected_gene': 'CHI3L1', 'score': 11.04}, {'connected_gene': 'ENSG00000234775', 'score': 0.77}]

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