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
ENST00000230658 [[50678920, 50679533], [50680374, 50680564], [50683323, 50683583], [50685479, 50685766], [50687107, 50687275], [50689327, 50690564]] [[50679505, 50679533], [50680374, 50680564], [50683323, 50683583], [50685479, 50685766], [50687107, 50687275], [50689327, 50689444]]
ENST00000511384 [[50679505, 50679533], [50680374, 50680564], [50683323, 50683583], [50685479, 50685766], [50687176, 50687275], [50689327, 50689444]] [[50679505, 50679533], [50680374, 50680564], [50683323, 50683583], [50685479, 50685766], [50687176, 50687275], [50689327, 50689444]]
ENST00000505475 [[50682037, 50682460], [50683323, 50683583], [50685479, 50685766], [50687107, 50687313]] None
NM_002202 [[50678957, 50679533], [50680374, 50680564], [50683323, 50683583], [50685479, 50685766], [50687107, 50687275], [50689327, 50690564]] [[50679505, 50679533], [50680374, 50680564], [50683323, 50683583], [50685479, 50685766], [50687107, 50687275], [50689327, 50689444]]
Promoter
Chrom Start End Description
chr5 50679228 50679288 CAGE_peak_1_at_ISL1_5end
chr5 50681985 50682031 CAGE_peak_2_at_ISL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I050962 50962892 50964528 1.24 [{'connected_gene': 'ISL1', 'score': 10.05}, {'connected_gene': 'PARP8', 'score': 5.48}, {'connected_gene': 'EMB', 'score': 3.88}, {'connected_gene': 'ENSG00000250360', 'score': 0.77}, {'connected_gene': 'ENSG00000251601', 'score': 0.31}, {'connected_gene': 'GC05M050956', 'score': 0.22}]
chr5 GH05I051380 51380978 51390638 2.18 [{'connected_gene': 'ISL1', 'score': 550.77}, {'connected_gene': 'EMB', 'score': 3.82}, {'connected_gene': 'LOC642366', 'score': 0.77}, {'connected_gene': 'GC05M051356', 'score': 0.77}, {'connected_gene': 'GC05P051405', 'score': 0.37}]
chr5 GH05I051411 51411733 51413370 0.43 [{'connected_gene': 'ISL1', 'score': 11.67}, {'connected_gene': 'HMGB1P47', 'score': 0.77}, {'connected_gene': 'GC05P051405', 'score': 0.44}, {'connected_gene': 'GC05M051429', 'score': 0.37}]
chr5 GH05I051409 51409440 51411328 0.2 [{'connected_gene': 'HMGB1P47', 'score': 550.77}, {'connected_gene': 'ISL1', 'score': 11.94}, {'connected_gene': 'GC05P051405', 'score': 0.44}, {'connected_gene': 'GC05M051429', 'score': 0.37}]
chr5 GH05I050965 50965484 50968114 1.04 [{'connected_gene': 'ENSG00000250360', 'score': 550.77}, {'connected_gene': 'ISL1', 'score': 23.81}, {'connected_gene': 'PARP8', 'score': 5.9}, {'connected_gene': 'ENSG00000251601', 'score': 0.29}, {'connected_gene': 'GC05M050956', 'score': 0.23}]