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
ENST00000347703 [[174219547, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174233632]] [[174219691, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232392]]
ENST00000392567 [[174219579, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231877, 174232014], [174232361, 174233719]] [[174219691, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231877, 174232014], [174232361, 174232392]]
ENST00000306721 [[174219588, 174219712], [174223439, 174223565], [174223982, 174224219], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174233725]] [[174219691, 174219712], [174223439, 174223565], [174223982, 174224219], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232392]]
ENST00000410101 [[174219599, 174219712], [174223439, 174223565], [174224114, 174224219], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232448]] [[174219691, 174219712], [174223439, 174223565], [174224114, 174224219], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232392]]
ENST00000410019 [[174219599, 174219712], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232798]] [[174219691, 174219712], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232392]]
ENST00000496441 [[174219599, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174233228]] None
ENST00000435616 [[174219615, 174219712], [174223439, 174223565], [174224070, 174224219], [174227953, 174228190], [174228545, 174228623], [174228727, 174228889], [174229522, 174229601]] [[174219691, 174219712], [174223439, 174223565], [174224070, 174224094]]
ENST00000467411 [[174219620, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174229717], [174230179, 174230320], [174231877, 174232014], [174232361, 174233632]] None
ENST00000468359 [[174223234, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230244]] None
NM_145810 [[174219560, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174233718]] [[174219691, 174219712], [174223439, 174223565], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232392]]
NM_031942 [[174219560, 174219712], [174223439, 174223565], [174223982, 174224219], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174233718]] [[174219691, 174219712], [174223439, 174223565], [174223982, 174224219], [174227953, 174228190], [174228545, 174228623], [174229522, 174229717], [174230179, 174230320], [174231010, 174231160], [174231877, 174232014], [174232361, 174232392]]
Promoter
Chrom Start End Description
chr2 174219559 174219621 CAGE_peak_1_at_CDCA7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I173306 173306953 173307832 0.46 [{'connected_gene': 'CDCA7', 'score': 21.09}, {'connected_gene': 'RPS2P18', 'score': 0.44}]
chr2 GH02I173138 173138168 173139219 0.2 [{'connected_gene': 'CDCA7', 'score': 4.81}, {'connected_gene': 'GC02P173132', 'score': 0.44}, {'connected_gene': 'MAP3K20', 'score': 0.21}, {'connected_gene': 'PIR34994', 'score': 0.18}]
chr2 GH02I173353 173353253 173357416 2.28 [{'connected_gene': 'CDCA7', 'score': 558.99}, {'connected_gene': 'LOC100289479', 'score': 550.77}, {'connected_gene': 'ENSG00000271151', 'score': 21.58}, {'connected_gene': 'SP3', 'score': 20.62}, {'connected_gene': 'LINC01960', 'score': 11.13}]
chr2 GH02I173264 173264000 173265400 1.21 [{'connected_gene': 'CDCA7', 'score': 10.86}, {'connected_gene': 'LOC100289479', 'score': 10.85}, {'connected_gene': 'MAP3K20', 'score': 1.97}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.37}, {'connected_gene': 'PIR34994', 'score': 0.26}]
chr2 GH02I173237 173237310 173240458 0.76 [{'connected_gene': 'CDCA7', 'score': 18.05}, {'connected_gene': 'LOC100289479', 'score': 10.41}, {'connected_gene': 'PIR34994', 'score': 0.37}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.26}, {'connected_gene': 'MAP3K20', 'score': 0.1}]
chr2 GH02I173249 173249643 173251205 1.32 [{'connected_gene': 'CDCA7', 'score': 10.86}, {'connected_gene': 'LOC100289479', 'score': 10.85}, {'connected_gene': 'PIR34994', 'score': 0.31}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.29}, {'connected_gene': 'MAP3K20', 'score': 0.09}]
chr2 GH02I173218 173218401 173219000 0.56 [{'connected_gene': 'CDCA7', 'score': 9.46}, {'connected_gene': 'LOC100289479', 'score': 9.46}, {'connected_gene': 'PIR34994', 'score': 0.77}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.21}, {'connected_gene': 'GC02P173132', 'score': 0.17}, {'connected_gene': 'MAP3K20', 'score': 0.11}]
chr2 GH02I173262 173262401 173263200 0.31 [{'connected_gene': 'CDCA7', 'score': 15.55}, {'connected_gene': 'LOC100289479', 'score': 10.85}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.37}, {'connected_gene': 'PIR34994', 'score': 0.26}, {'connected_gene': 'MAP3K20', 'score': 0.09}]
chr2 GH02I173236 173236377 173237018 0.49 [{'connected_gene': 'CDCA7', 'score': 10.41}, {'connected_gene': 'LOC100289479', 'score': 10.41}, {'connected_gene': 'PIR34994', 'score': 0.37}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.25}, {'connected_gene': 'MAP3K20', 'score': 0.1}]
chr2 GH02I173358 173358385 173360539 0.76 [{'connected_gene': 'CDCA7', 'score': 8.17}, {'connected_gene': 'LOC100289479', 'score': 0.77}, {'connected_gene': 'LOC100130171', 'score': 0.19}]
chr2 GH02I173311 173311899 173312902 0.2 [{'connected_gene': 'RPS2P18', 'score': 0.39}, {'connected_gene': 'CDCA7', 'score': 0.26}]
chr2 GH02I173035 173035930 173038457 0.66 [{'connected_gene': 'MAP3K20', 'score': 12.13}, {'connected_gene': 'CDCA7', 'score': 9.98}, {'connected_gene': 'LOC100289479', 'score': 9.98}, {'connected_gene': 'GC02P173050', 'score': 0.39}, {'connected_gene': 'ALDH7A1P2', 'score': 0.11}, {'connected_gene': 'RAPGEF4', 'score': 0.06}]
chr2 GH02I173043 173043201 173044223 0.95 [{'connected_gene': 'MAP3K20', 'score': 14.48}, {'connected_gene': 'CDCA7', 'score': 9.98}, {'connected_gene': 'LOC100289479', 'score': 9.98}, {'connected_gene': 'GC02P173050', 'score': 0.44}, {'connected_gene': 'ALDH7A1P2', 'score': 0.11}, {'connected_gene': 'RAPGEF4', 'score': 0.06}]
chr2 GH02I173044 173044427 173046580 0.54 [{'connected_gene': 'MAP3K20', 'score': 16.51}, {'connected_gene': 'CDCA7', 'score': 9.98}, {'connected_gene': 'LOC100289479', 'score': 9.98}, {'connected_gene': 'GC02P173050', 'score': 0.77}, {'connected_gene': 'ALDH7A1P2', 'score': 0.1}, {'connected_gene': 'RAPGEF4', 'score': 0.06}]
chr2 GH02I173217 173217098 173218321 0.43 [{'connected_gene': 'MAP3K20', 'score': 10.89}, {'connected_gene': 'CDCA7', 'score': 9.98}, {'connected_gene': 'LOC100289479', 'score': 9.98}, {'connected_gene': 'PIR34994', 'score': 0.77}, {'connected_gene': 'MAP3K20-AS1', 'score': 0.21}, {'connected_gene': 'GC02P173132', 'score': 0.17}]
chr2 GH02I173209 173209745 173211705 1.37 [{'connected_gene': 'MAP3K20', 'score': 11.33}, {'connected_gene': 'SP3', 'score': 10.61}, {'connected_gene': 'LOC100289479', 'score': 10.25}, {'connected_gene': 'CDCA7', 'score': 10.25}, {'connected_gene': 'MAP3K20-AS1', 'score': 4.63}, {'connected_gene': 'PIR34994', 'score': 0.39}, {'connected_gene': 'GC02P173132', 'score': 0.18}]
chr2 GH02I173360 173360689 173361276 0.31 [{'connected_gene': 'LOC100289479', 'score': 0.77}, {'connected_gene': 'CDCA7', 'score': 0.44}, {'connected_gene': 'LOC100130171', 'score': 0.19}]
chr2 GH02I173401 173401535 173403142 1.06 [{'connected_gene': 'SP9', 'score': 11.94}, {'connected_gene': 'CDCA7', 'score': 10.85}, {'connected_gene': 'LOC100289479', 'score': 10.85}, {'connected_gene': 'LOC100130171', 'score': 0.31}]

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