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
ENST00000301046 [[48961466, 48961800], [48962299, 48962375], [48962864, 48963023], [48963670, 48963829]] [[48961739, 48961800], [48962299, 48962375], [48962864, 48963023], [48963670, 48963803]]
ENST00000549817 [[48961470, 48962375], [48962864, 48963023], [48963670, 48963849]] [[48962295, 48962375], [48962864, 48963023], [48963670, 48963803]]
NM_002289 [[48961466, 48961800], [48962299, 48962375], [48962864, 48963023], [48963670, 48963829]] [[48961739, 48961800], [48962299, 48962375], [48962864, 48963023], [48963670, 48963803]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I048618 48618558 48618707 0.72 [{'connected_gene': 'SNORA2C', 'score': 10.23}, {'connected_gene': 'ASB8', 'score': 9.52}, {'connected_gene': 'CCDC184', 'score': 9.52}, {'connected_gene': 'RNU6-1203P', 'score': 9.43}, {'connected_gene': 'OR11M1P', 'score': 0.44}, {'connected_gene': 'LALBA', 'score': 0.37}, {'connected_gene': 'GC12M048339', 'score': 0.2}]
chr12 GH12I048600 48600598 48601803 0.94 [{'connected_gene': 'LALBA', 'score': 550.77}, {'connected_gene': 'SNORA2C', 'score': 10.71}, {'connected_gene': 'ASB8', 'score': 9.38}, {'connected_gene': 'CCDC184', 'score': 9.38}, {'connected_gene': 'TUBA1C', 'score': 4.45}, {'connected_gene': 'OR11M1P', 'score': 0.31}, {'connected_gene': 'GC12M048339', 'score': 0.17}]
chr12 GH12I048804 48804716 48804759 0.22 [{'connected_gene': 'LALBA', 'score': 1.89}, {'connected_gene': 'LOC390314', 'score': 0.77}, {'connected_gene': 'GC12P048810', 'score': 0.44}]