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
ENST00000293549 [[49372397, 49372537], [49373250, 49373504], [49374206, 49374472], [49374934, 49375459]] [[49372433, 49372537], [49373250, 49373504], [49374206, 49374472], [49374934, 49375423]]
NM_005430 [[49372235, 49372537], [49373250, 49373504], [49374206, 49374472], [49374934, 49376396]] [[49372433, 49372537], [49373250, 49373504], [49374206, 49374472], [49374934, 49375423]]
Promoter
Chrom Start End Description
chr12 49372099 49372110 CAGE_peak_4_at_WNT1_5end
chr12 49372251 49372263 CAGE_peak_2_at_WNT1_5end
chr12 49374041 49374056 CAGE_peak_1_at_WNT1_5end
chr12 49374065 49374083 CAGE_peak_3_at_WNT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I048932 48932329 48935750 0.49 [{'connected_gene': 'WNT10B', 'score': 18.52}, {'connected_gene': 'CCDC65', 'score': 14.63}, {'connected_gene': 'ARF3', 'score': 12.01}, {'connected_gene': 'WNT1', 'score': 11.61}, {'connected_gene': 'RNU6-940P', 'score': 11.61}, {'connected_gene': 'FKBP11', 'score': 10.96}, {'connected_gene': 'GC12M048929', 'score': 0.44}, {'connected_gene': 'ENSG00000255863', 'score': 0.44}, {'connected_gene': 'ENSG00000272822', 'score': 0.34}]
chr12 GH12I048977 48977196 48982261 1.6 [{'connected_gene': 'WNT1', 'score': 550.77}, {'connected_gene': 'ARF3', 'score': 12.51}, {'connected_gene': 'FKBP11', 'score': 11.21}, {'connected_gene': 'ENSG00000255863', 'score': 10.63}, {'connected_gene': 'WNT10B', 'score': 7.27}, {'connected_gene': 'GC12P049011', 'score': 0.44}]