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
ENST00000264497 [[123533782, 123533915], [123534005, 123534083], [123536836, 123536992], [123541855, 123541891], [123541998, 123542224]] [[123533864, 123533915], [123534005, 123534083], [123536836, 123536992], [123541855, 123541891], [123541998, 123542166]]
NM_001207006 [[123533782, 123534083], [123536836, 123536992], [123541855, 123541891], [123541998, 123542212]] [[123533981, 123534083], [123536836, 123536992], [123541855, 123541891], [123541998, 123542166]]
NM_021803 [[123533782, 123533915], [123534005, 123534083], [123536836, 123536992], [123541855, 123541891], [123541998, 123542212]] [[123533864, 123533915], [123534005, 123534083], [123536836, 123536992], [123541855, 123541891], [123541998, 123542166]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I122150 122150129 122153877 1.97 [{'connected_gene': 'KIAA1109', 'score': 571.54}, {'connected_gene': 'ENSG00000273007', 'score': 15.34}, {'connected_gene': 'BBS7', 'score': 14.49}, {'connected_gene': 'IL2', 'score': 6.29}, {'connected_gene': 'IL21', 'score': 1.13}, {'connected_gene': 'RN7SL335P', 'score': 0.21}]
chr4 GH04I122665 122665289 122669691 0.79 [{'connected_gene': 'IL21', 'score': 10.98}, {'connected_gene': 'IL21-AS1', 'score': 10.66}, {'connected_gene': 'FGF2', 'score': 9.84}, {'connected_gene': 'BBS12', 'score': 0.29}]
chr4 GH04I122621 122621056 122621115 0.5 [{'connected_gene': 'IL21', 'score': 550.77}, {'connected_gene': 'IL21-AS1', 'score': 0.77}, {'connected_gene': 'BBS12', 'score': 0.18}]
chr4 GH04I122699 122699786 122700800 1.08 [{'connected_gene': 'BBS12', 'score': 550.77}, {'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.55}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'FGF2', 'score': 10.2}, {'connected_gene': 'IL21-AS1', 'score': 10.11}, {'connected_gene': 'CETN4P', 'score': 6.04}, {'connected_gene': 'IL21', 'score': 0.18}]
chr4 GH04I122688 122688401 122689000 0.46 [{'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.54}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'IL21-AS1', 'score': 9.76}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'IL21', 'score': 0.2}]
chr4 GH04I122660 122660845 122662154 0.98 [{'connected_gene': 'IL21-AS1', 'score': 11.05}, {'connected_gene': 'BBS12', 'score': 10.6}, {'connected_gene': 'CETN4P', 'score': 10.51}, {'connected_gene': 'FGF2', 'score': 9.84}, {'connected_gene': 'IL21', 'score': 0.26}]
chr4 GH04I122689 122688001 122688035 0.7 [{'connected_gene': 'IL21-AS1', 'score': 9.76}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'IL21', 'score': 0.2}]