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
NM_183242 [[92545861, 92546277], [92554254, 92554452], [92568029, 92568226], [92573440, 92573558], [92595243, 92595333], [92604906, 92604987], [92606671, 92606768], [92612736, 92612825], [92613240, 92613397]] [[92546128, 92546277], [92554254, 92554452], [92568029, 92568226], [92573440, 92573558], [92595243, 92595333], [92604906, 92604987], [92606671, 92606768], [92612736, 92612825], [92613240, 92613358]]
Promoter
Chrom Start End Description
chr1 92545866 92545917 CAGE_peak_1_at_BTBD8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I092031 92031847 92032024 0.43 [{'connected_gene': 'EPHX4', 'score': 556.41}, {'connected_gene': 'BTBD8', 'score': 5.36}, {'connected_gene': 'GC01P092039', 'score': 0.44}]
chr1 GH01I092095 92095789 92097111 0.46 [{'connected_gene': 'KIAA1107', 'score': 15.89}, {'connected_gene': 'GAPDHP46', 'score': 0.37}, {'connected_gene': 'ENSG00000189195', 'score': 0.37}, {'connected_gene': 'BTBD8', 'score': 0.37}, {'connected_gene': 'GC01P092039', 'score': 0.22}]
chr1 GH01I092079 92079801 92081405 1.97 [{'connected_gene': 'ENSG00000189195', 'score': 550.77}, {'connected_gene': 'BTBD8', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 11.68}, {'connected_gene': 'SNORD21', 'score': 11.54}, {'connected_gene': 'RPL5', 'score': 11.0}, {'connected_gene': 'KIAA1107', 'score': 6.8}, {'connected_gene': 'GAPDHP46', 'score': 0.28}, {'connected_gene': 'GC01P092039', 'score': 0.26}]