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
ENST00000296096 [[27371871, 27372223], [27372990, 27373233], [27375555, 27376378]] [[27372001, 27372223], [27372990, 27373233], [27375555, 27375735]]
ENST00000407815 [[27371892, 27372223], [27372576, 27372817]] None
NM_175769 [[27371944, 27372223], [27372990, 27373233], [27375555, 27375819]] [[27372001, 27372223], [27372990, 27373233], [27375555, 27375735]]
Promoter
Chrom Start End Description
chr2 27371866 27371878 CAGE_peak_3_at_TCF23_5end
chr2 27371879 27371907 CAGE_peak_1_at_TCF23_5end
chr2 27371919 27371935 CAGE_peak_2_at_TCF23_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027122 27122818 27124512 1.91 [{'connected_gene': 'ABHD1', 'score': 550.77}, {'connected_gene': 'TCF23', 'score': 11.5}, {'connected_gene': 'ATRAID', 'score': 10.8}, {'connected_gene': 'SLC5A6', 'score': 10.8}, {'connected_gene': 'KHK', 'score': 10.58}, {'connected_gene': 'EMILIN1', 'score': 10.55}, {'connected_gene': 'CAD', 'score': 10.47}, {'connected_gene': 'CENPA', 'score': 7.32}, {'connected_gene': 'SLC35F6', 'score': 5.31}, {'connected_gene': 'CGREF1', 'score': 0.77}]
chr2 GH02I027263 27263000 27263201 1.54 [{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2 GH02I027264 27263207 27263266 0.99 [{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'CENPA', 'score': 5.39}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2 GH02I027169 27169799 27172737 1.18 [{'connected_gene': 'ATRAID', 'score': 22.62}, {'connected_gene': 'GTF3C2', 'score': 16.38}, {'connected_gene': 'TCF23', 'score': 12.35}, {'connected_gene': 'PRR30', 'score': 12.31}, {'connected_gene': 'PREB', 'score': 11.7}, {'connected_gene': 'SLC5A6', 'score': 11.36}, {'connected_gene': 'ABHD1', 'score': 11.18}, {'connected_gene': 'CAD', 'score': 10.98}, {'connected_gene': 'SLC30A3', 'score': 10.51}, {'connected_gene': 'DNAJC5G', 'score': 10.51}, {'connected_gene': 'CGREF1', 'score': 10.47}, {'connected_gene': 'KHK', 'score': 10.42}, {'connected_gene': 'EMILIN1', 'score': 10.4}, {'connected_gene': 'MPV17', 'score': 9.72}, {'connected_gene': 'GTF3C2-AS1', 'score': 9.45}, {'connected_gene': 'KRTCAP3', 'score': 4.73}, {'connected_gene': 'ENSG00000236099', 'score': 0.39}, {'connected_gene': 'GC02P027132', 'score': 0.28}]
chr2 GH02I027090 27090630 27097200 1.44 [{'connected_gene': 'KHK', 'score': 36.65}, {'connected_gene': 'ABHD1', 'score': 11.1}, {'connected_gene': 'CGREF1', 'score': 11.1}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'CAD', 'score': 10.92}, {'connected_gene': 'PRR30', 'score': 10.9}, {'connected_gene': 'TCF23', 'score': 10.87}, {'connected_gene': 'PREB', 'score': 10.8}, {'connected_gene': 'AGBL5-AS1', 'score': 10.44}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.42}, {'connected_gene': 'AGBL5', 'score': 10.41}, {'connected_gene': 'SLC30A3', 'score': 10.2}, {'connected_gene': 'DNAJC5G', 'score': 10.2}, {'connected_gene': 'MAPRE3', 'score': 9.96}, {'connected_gene': 'LOC100129724', 'score': 9.81}, {'connected_gene': 'SNX17', 'score': 8.97}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'GC02P027111', 'score': 0.37}]
chr2 GH02I027153 27153952 27155187 0.2 [{'connected_gene': 'IFT172', 'score': 4.36}, {'connected_gene': 'ENSG00000236099', 'score': 0.77}, {'connected_gene': 'TCF23', 'score': 0.44}, {'connected_gene': 'GC02P027132', 'score': 0.34}]
chr2 GH02I027148 27148979 27149038 0.73 [{'connected_gene': 'TCF23', 'score': 550.77}, {'connected_gene': 'ENSG00000236099', 'score': 0.39}, {'connected_gene': 'GC02P027132', 'score': 0.37}]