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
ENST00000457880 [[75198835, 75199102], [75202225, 75202306], [75214434, 75214506], [75217975, 75218109], [75229577, 75232358]] [[75198928, 75199102], [75202225, 75202306], [75214434, 75214506], [75217975, 75218109], [75229577, 75229797]]
ENST00000370867 [[75198839, 75199102], [75202225, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218109], [75229577, 75232358]] [[75198928, 75199102], [75202225, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218109], [75229577, 75229797]]
ENST00000421739 [[75198857, 75199102], [75217975, 75218109], [75229577, 75230141]] [[75198928, 75199102], [75217975, 75218109], [75229577, 75229797]]
ENST00000479111 [[75198930, 75199102], [75199801, 75199866], [75202225, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218109], [75229577, 75230084]] [[75214440, 75214506], [75217975, 75218109], [75229577, 75229797]]
ENST00000483990 [[75201872, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218078]] [[75214440, 75214506], [75217975, 75218078]]
ENST00000485401 [[75214324, 75214506], [75217975, 75218109], [75227342, 75227443], [75229577, 75229673]] None
ENST00000449696 [[75215806, 75215960], [75216732, 75217126], [75217975, 75218059]] None
ENST00000486467 [[75216817, 75217126], [75217975, 75218109], [75229577, 75229685]] None
ENST00000467646 [[75229576, 75229834], [75231967, 75232362]] None
NM_001162916 [[75198835, 75199102], [75202225, 75202306], [75214434, 75214506], [75217975, 75218109], [75229577, 75232361]] [[75198928, 75199102], [75202225, 75202306], [75214434, 75214506], [75217975, 75218109], [75229577, 75229797]]
NM_138467 [[75198839, 75199102], [75202225, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218109], [75229577, 75232361]] [[75198928, 75199102], [75202225, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218109], [75229577, 75229797]]
NR_027962 [[75198861, 75199215], [75202225, 75202306], [75204373, 75204472], [75214434, 75214506], [75217975, 75218109], [75229577, 75232361]] None
Promoter
Chrom Start End Description
chr1 75198792 75198803 CAGE_peak_4_at_TYW3_5end
chr1 75198828 75198868 CAGE_peak_1_at_TYW3_5end
chr1 75198871 75198932 CAGE_peak_2_at_TYW3_5end
chr1 75198995 75199006 CAGE_peak_3_at_TYW3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I074729 74729846 74734968 2.49 [{'connected_gene': 'CRYZ', 'score': 627.28}, {'connected_gene': 'TYW3', 'score': 567.98}, {'connected_gene': 'ENSG00000272864', 'score': 0.29}]
chr1 GH01I074693 74693302 74694318 0.2 [{'connected_gene': 'ERICH3', 'score': 12.76}, {'connected_gene': 'LRRC53', 'score': 10.37}, {'connected_gene': 'ENSG00000272864', 'score': 7.86}, {'connected_gene': 'TYW3', 'score': 4.9}]
chr1 GH01I074964 74964358 74964671 0.86 [{'connected_gene': 'ENSG00000229943', 'score': 550.77}, {'connected_gene': 'TYW3', 'score': 12.65}, {'connected_gene': 'DLSTP1', 'score': 11.12}, {'connected_gene': 'GC01P074970', 'score': 0.44}]