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
ENST00000368923 [[110712973, 110714545], [110729536, 110729645], [110734493, 110734669], [110736669, 110736765]] [[110713977, 110714545], [110729536, 110729645], [110734493, 110734669], [110736669, 110736749]]
ENST00000368924 [[110712973, 110714545], [110725976, 110726153], [110729536, 110729645], [110734493, 110734669], [110736669, 110736765]] [[110713977, 110714545], [110725976, 110726153], [110729536, 110729645], [110734493, 110734669], [110736669, 110736749]]
ENST00000479373 [[110712973, 110714545], [110725976, 110726153], [110734493, 110734669], [110736669, 110736765]] [[110726076, 110726153], [110734493, 110734669], [110736669, 110736749]]
NM_003649 [[110713382, 110714545], [110725976, 110726153], [110729536, 110729645], [110734493, 110734669], [110736669, 110736753]] [[110713977, 110714545], [110725976, 110726153], [110729536, 110729645], [110734493, 110734669], [110736669, 110736749]]
NM_004032 [[110713382, 110714545], [110729536, 110729645], [110734493, 110734669], [110736669, 110736753]] [[110713977, 110714545], [110729536, 110729645], [110734493, 110734669], [110736669, 110736749]]
Promoter
Chrom Start End Description
chr6 110736742 110736782 CAGE_peak_1_at_DDO_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I110508 110508599 110512417 1.05 [{'connected_gene': 'SLC22A16', 'score': 6.24}, {'connected_gene': 'DDO', 'score': 4.48}, {'connected_gene': 'GC06P110478', 'score': 0.29}, {'connected_gene': 'LOC105377940', 'score': 0.28}]
chr6 GH06I110548 110542456 110542638 0.59 [{'connected_gene': 'SLC22A16', 'score': 11.4}, {'connected_gene': 'GTF3C6', 'score': 10.62}, {'connected_gene': 'RPF2', 'score': 10.59}, {'connected_gene': 'RNU6-957P', 'score': 10.25}, {'connected_gene': 'CDK19', 'score': 5.47}, {'connected_gene': 'WASF1', 'score': 1.45}, {'connected_gene': 'DDO', 'score': 1.3}, {'connected_gene': 'LOC105377940', 'score': 0.44}, {'connected_gene': 'GC06P110478', 'score': 0.21}]
chr6 GH06I110362 110362714 110368711 0.52 [{'connected_gene': 'DDO', 'score': 9.77}, {'connected_gene': 'ZBTB24', 'score': 9.48}, {'connected_gene': 'METTL24', 'score': 6.51}]
chr6 GH06I110295 110295966 110296137 0.42 [{'connected_gene': 'DDO', 'score': 9.04}, {'connected_gene': 'WASF1', 'score': 5.91}, {'connected_gene': 'CDC40', 'score': 4.22}, {'connected_gene': 'METTL24', 'score': 1.4}, {'connected_gene': 'GC06M110279', 'score': 0.39}, {'connected_gene': 'LOC102724586', 'score': 0.28}]
chr6 GH06I110296 110296338 110296600 0.4 [{'connected_gene': 'DDO', 'score': 9.04}, {'connected_gene': 'WASF1', 'score': 6.06}, {'connected_gene': 'GC06M110279', 'score': 0.39}, {'connected_gene': 'LOC102724586', 'score': 0.28}, {'connected_gene': 'METTL24', 'score': 0.21}]
chr6 GH06I110418 110418011 110420798 0.73 [{'connected_gene': 'DDO', 'score': 30.77}, {'connected_gene': 'SLC22A16', 'score': 10.43}, {'connected_gene': 'WASF1', 'score': 4.36}, {'connected_gene': 'LOC105377936', 'score': 0.77}, {'connected_gene': 'GC06P110436', 'score': 0.37}]
chr6 GH06I110399 110399201 110400600 0.46 [{'connected_gene': 'DDO', 'score': 16.32}, {'connected_gene': 'SLC22A16', 'score': 10.85}, {'connected_gene': 'METTL24', 'score': 0.26}]
chr6 GH06I110345 110345485 110350867 0.2 [{'connected_gene': 'DDO', 'score': 7.63}, {'connected_gene': 'METTL24', 'score': 7.13}, {'connected_gene': 'LOC102724586', 'score': 0.39}]
chr6 GH06I110390 110390001 110390200 0.65 [{'connected_gene': 'DDO', 'score': 10.96}, {'connected_gene': 'METTL24', 'score': 0.29}]
chr6 GH06I110404 110404426 110405240 0.49 [{'connected_gene': 'DDO', 'score': 5.9}, {'connected_gene': 'METTL24', 'score': 0.25}]
chr6 GH06I110389 110389838 110389987 0.67 [{'connected_gene': 'DDO', 'score': 10.96}, {'connected_gene': 'METTL24', 'score': 0.29}]
chr6 GH06I110391 110390938 110391107 0.59 [{'connected_gene': 'DDO', 'score': 10.99}, {'connected_gene': 'METTL24', 'score': 0.29}]
chr6 GH06I110414 110414754 110416031 1.77 [{'connected_gene': 'DDO', 'score': 578.51}, {'connected_gene': 'LOC105377936', 'score': 550.77}, {'connected_gene': 'METTL24', 'score': 0.22}]
chr6 GH06I110337 110337387 110344535 0.64 [{'connected_gene': 'DDO', 'score': 5.83}, {'connected_gene': 'LOC102724586', 'score': 0.44}, {'connected_gene': 'METTL24', 'score': 0.37}]
chr6 GH06I110095 110095667 110099388 1.11 [{'connected_gene': 'DDO', 'score': 4.29}, {'connected_gene': 'GC06P110094', 'score': 0.77}, {'connected_gene': 'PIR45173', 'score': 0.26}]
chr6 GH06I110527 110527543 110531417 1.44 [{'connected_gene': 'RPF2', 'score': 5.01}, {'connected_gene': 'LOC105377938', 'score': 4.6}, {'connected_gene': 'DDO', 'score': 4.45}, {'connected_gene': 'AMD1', 'score': 4.33}, {'connected_gene': 'LOC105377940', 'score': 0.37}, {'connected_gene': 'GC06P110478', 'score': 0.23}]
chr6 GH06I110355 110355078 110358608 1.82 [{'connected_gene': 'METTL24', 'score': 557.5}, {'connected_gene': 'ZBTB24', 'score': 14.64}, {'connected_gene': 'MFSD4B', 'score': 12.81}, {'connected_gene': 'ENSG00000272356', 'score': 10.15}, {'connected_gene': 'FCF1P5', 'score': 10.12}, {'connected_gene': 'DDO', 'score': 7.78}, {'connected_gene': 'LOC102724586', 'score': 0.34}]
chr6 GH06I110541 110541367 110541674 0.2 [{'connected_gene': 'GTF3C6', 'score': 10.58}, {'connected_gene': 'RPF2', 'score': 10.37}, {'connected_gene': 'RNU6-957P', 'score': 10.36}, {'connected_gene': 'DDO', 'score': 5.02}, {'connected_gene': 'LOC105377940', 'score': 0.44}, {'connected_gene': 'GC06P110478', 'score': 0.21}]
chr6 GH06I110560 110560135 110562108 0.69 [{'connected_gene': 'GC06M110563', 'score': 550.77}, {'connected_gene': 'DDO', 'score': 4.22}, {'connected_gene': 'RPF2', 'score': 4.06}, {'connected_gene': 'LOC105377939', 'score': 0.39}]
chr6 GH06I110534 110534558 110535401 0.79 [{'connected_gene': 'ENSG00000220506', 'score': 11.94}, {'connected_gene': 'GTF3C6', 'score': 11.01}, {'connected_gene': 'RPF2', 'score': 10.49}, {'connected_gene': 'BRD7P4', 'score': 10.06}, {'connected_gene': 'RNU6-957P', 'score': 9.98}, {'connected_gene': 'MFSD4B', 'score': 9.85}, {'connected_gene': 'DDO', 'score': 5.26}, {'connected_gene': 'LOC105377940', 'score': 0.39}, {'connected_gene': 'GC06P110478', 'score': 0.22}]