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
ENST00000419175 [[98064084, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095650, 98095731], [98097894, 98098300]] [[98064254, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095650, 98095731], [98097894, 98097981]]
ENST00000371174 [[98064152, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095647, 98095731], [98097894, 98098321]] [[98064254, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095647, 98095731], [98097894, 98097981]]
NM_001017520 [[98064084, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095650, 98095731], [98097894, 98098321]] [[98064254, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095650, 98095731], [98097894, 98097981]]
NM_004088 [[98064084, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095647, 98095731], [98097894, 98098321]] [[98064254, 98064457], [98078108, 98078283], [98079018, 98079147], [98080374, 98080545], [98082413, 98082485], [98084022, 98084146], [98087224, 98087357], [98088481, 98088587], [98092107, 98092353], [98095647, 98095731], [98097894, 98097981]]
Promoter
Chrom Start End Description
chr10 98064150 98064163 CAGE_peak_3_at_DNTT_5end
chr10 98064181 98064237 CAGE_peak_1_at_DNTT_5end
chr10 98064238 98064252 CAGE_peak_2_at_DNTT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I096308 96308534 96311192 0.86 [{'connected_gene': 'OPALIN', 'score': 10.27}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096331 96330322 96330711 0.24 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.17}]
chr10 GH10I096332 96332104 96333072 0.2 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096333 96333244 96333373 0.4 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096330 96330732 96331778 0.38 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.17}]
chr10 GH10I096334 96334627 96336153 0.62 [{'connected_gene': 'OPALIN', 'score': 11.46}, {'connected_gene': 'GC10P096338', 'score': 0.77}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096284 96284686 96284857 0.22 [{'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'CC2D2B', 'score': 3.86}, {'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096285 96285404 96285593 0.65 [{'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096286 96286322 96291549 1.58 [{'connected_gene': 'BLNK', 'score': 10.58}, {'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.68}, {'connected_gene': 'TLL2', 'score': 4.87}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096292 96292984 96294075 1.03 [{'connected_gene': 'BLNK', 'score': 11.41}, {'connected_gene': 'OPALIN', 'score': 9.74}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'DNTT', 'score': 0.39}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096297 96297774 96301604 0.78 [{'connected_gene': 'BLNK', 'score': 4.9}, {'connected_gene': 'DNTT', 'score': 0.77}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096294 96294481 96295382 0.2 [{'connected_gene': 'BLNK', 'score': 11.41}, {'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096283 96283844 96283993 0.46 [{'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096277 96276944 96277093 0.51 [{'connected_gene': 'BLNK', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096276 96276164 96276313 0.82 [{'connected_gene': 'BLNK', 'score': 0.77}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.11}]
chr10 GH10I096305 96305151 96305272 0.42 [{'connected_gene': 'DNTT', 'score': 554.52}, {'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'BLNK', 'score': 15.74}, {'connected_gene': 'CCNJ', 'score': 1.88}, {'connected_gene': 'ZNF518A', 'score': 1.62}, {'connected_gene': 'CC2D2B', 'score': 1.27}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096302 96302161 96303077 0.38 [{'connected_gene': 'DNTT', 'score': 550.77}, {'connected_gene': 'BLNK', 'score': 6.01}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096303 96303307 96303704 0.2 [{'connected_gene': 'DNTT', 'score': 550.77}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'BLNK', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096296 96296635 96297118 0.2 [{'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'BLNK', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096295 96295460 96296579 0.2 [{'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'BLNK', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096304 96304387 96304446 0.7 [{'connected_gene': 'DNTT', 'score': 550.77}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096311 96311834 96314428 0.31 [{'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'GC10M096095', 'score': 0.15}]
chr10 GH10I096307 96307793 96308174 0.2 [{'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'OPALIN', 'score': 10.25}, {'connected_gene': 'DNTT', 'score': 0.77}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096306 96305399 96307425 0.71 [{'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'OPALIN', 'score': 10.25}, {'connected_gene': 'DNTT', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096337 96337281 96340058 0.46 [{'connected_gene': 'GC10P096338', 'score': 550.77}, {'connected_gene': 'OPALIN', 'score': 11.46}, {'connected_gene': 'DNTT', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096317 96317988 96318766 0.2 [{'connected_gene': 'GC10P096324', 'score': 0.77}, {'connected_gene': 'GC10P096322', 'score': 0.77}, {'connected_gene': 'DNTT', 'score': 0.39}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.15}]
chr10 GH10I096319 96319660 96320547 0.56 [{'connected_gene': 'GC10P096324', 'score': 0.77}, {'connected_gene': 'GC10P096322', 'score': 0.77}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.15}]
chr10 GH10I096314 96314557 96315739 0.2 [{'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.15}]
chr10 GH10I096315 96315862 96317134 0.38 [{'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.15}]