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
ENST00000367351 [[150263135, 150263293], [150266444, 150266708], [150267507, 150267789], [150268455, 150268587], [150269858, 150270371]] [[150263208, 150263293], [150266444, 150266708], [150267507, 150267789], [150268455, 150268565]]
NM_025217 [[150263073, 150263293], [150266444, 150266708], [150267507, 150267789], [150268455, 150268587], [150269858, 150270371]] [[150263208, 150263293], [150266444, 150266708], [150267507, 150267789], [150268455, 150268565]]
Promoter
Chrom Start End Description
chr6 150263142 150263171 CAGE_peak_1_at_ULBP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149962 149962670 149965727 2.35 [{'connected_gene': 'ULBP1', 'score': 578.81}, {'connected_gene': 'LATS1', 'score': 54.56}, {'connected_gene': 'NUP43', 'score': 38.37}, {'connected_gene': 'PPIL4', 'score': 21.15}, {'connected_gene': 'KATNA1', 'score': 18.59}, {'connected_gene': 'RAET1K', 'score': 16.65}, {'connected_gene': 'ENSG00000216906', 'score': 11.43}, {'connected_gene': 'ENSG00000233330', 'score': 10.53}, {'connected_gene': 'ULBP2', 'score': 8.78}, {'connected_gene': 'ENSG00000219298', 'score': 0.39}]
chr6 GH06I149941 149941400 149942614 1.9 [{'connected_gene': 'ULBP2', 'score': 562.61}, {'connected_gene': 'LATS1', 'score': 41.21}, {'connected_gene': 'PPIL4', 'score': 24.65}, {'connected_gene': 'KATNA1', 'score': 20.42}, {'connected_gene': 'NUP43', 'score': 15.32}, {'connected_gene': 'RPS18P9', 'score': 11.91}, {'connected_gene': 'ENSG00000233330', 'score': 9.98}, {'connected_gene': 'ENSG00000215094', 'score': 0.44}]
chr6 GH06I149937 149937839 149939245 0.98 [{'connected_gene': 'ULBP2', 'score': 11.0}, {'connected_gene': 'ULBP1', 'score': 9.42}, {'connected_gene': 'RAET1K', 'score': 9.23}, {'connected_gene': 'LOC105378052', 'score': 0.77}]
chr6 GH06I150014 150014862 150016078 0.75 [{'connected_gene': 'ULBP2', 'score': 13.26}, {'connected_gene': 'RAET1K', 'score': 0.39}, {'connected_gene': 'RAET1L', 'score': 0.39}]
chr6 GH06I150038 150038001 150038200 0.38 [{'connected_gene': 'ULBP2', 'score': 10.46}, {'connected_gene': 'ENSG00000235972', 'score': 0.77}, {'connected_gene': 'RAET1M', 'score': 0.44}]
chr6 GH06I150025 150025025 150026292 1.36 [{'connected_gene': 'RAET1L', 'score': 550.77}, {'connected_gene': 'ULBP2', 'score': 11.32}, {'connected_gene': 'RAET1M', 'score': 0.44}]
chr6 GH06I149074 149074147 149078060 1.3 [{'connected_gene': 'LOC105378047', 'score': 11.72}, {'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'RNU7-3P', 'score': 11.02}, {'connected_gene': 'PPIL4', 'score': 11.02}, {'connected_gene': 'TAB2-AS1', 'score': 10.67}, {'connected_gene': 'ULBP2', 'score': 4.55}, {'connected_gene': 'LOC105378046', 'score': 0.31}, {'connected_gene': 'GC06M149112', 'score': 0.28}, {'connected_gene': 'UST', 'score': 0.05}]
chr6 GH06I150250 150250413 150258403 1.64 [{'connected_gene': 'ENSG00000268592', 'score': 15.94}, {'connected_gene': 'NUP43', 'score': 15.55}, {'connected_gene': 'ENSG00000216906', 'score': 15.04}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.72}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'LRP11', 'score': 11.34}, {'connected_gene': 'LATS1', 'score': 11.33}, {'connected_gene': 'ENSG00000238594', 'score': 11.3}, {'connected_gene': 'PPP1R14C', 'score': 10.82}, {'connected_gene': 'RAET1G', 'score': 3.97}, {'connected_gene': 'ULBP2', 'score': 1.63}, {'connected_gene': 'RAET1L', 'score': 1.25}, {'connected_gene': 'LOC105378054', 'score': 0.37}, {'connected_gene': 'GC06M150158', 'score': 0.14}]