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
NM_005064 [[34340095, 34340348], [34340783, 34340949], [34341373, 34341433], [34344858, 34345005]] [[34340236, 34340348], [34340783, 34340949], [34341373, 34341433], [34344858, 34344934]]
NM_145898 [[34340095, 34340348], [34340783, 34340898], [34341373, 34341433], [34344858, 34345005]] [[34340236, 34340348], [34340783, 34340898], [34341373, 34341433], [34344858, 34344934]]
Promoter
Chrom Start End Description
chr17 34344991 34345000 CAGE_peak_2_at_CCL23_5end
chr17 34345002 34345016 CAGE_peak_1_at_CCL23_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I035990 35990176 35992383 0.71 [{'connected_gene': 'CCL23', 'score': 12.2}, {'connected_gene': 'CCL18', 'score': 10.61}, {'connected_gene': 'CCL15', 'score': 10.57}, {'connected_gene': 'GC17M036109', 'score': 0.77}, {'connected_gene': 'ENSG00000275431', 'score': 0.44}, {'connected_gene': 'ENSG00000275944', 'score': 0.39}, {'connected_gene': 'CCL15-CCL14', 'score': 0.39}]
chr17 GH17I036017 36017801 36018400 0.99 [{'connected_gene': 'CCL23', 'score': 565.06}, {'connected_gene': 'CCL15', 'score': 6.45}, {'connected_gene': 'GC17M036102', 'score': 0.44}]
chr17 GH17I036154 36154281 36154664 0.34 [{'connected_gene': 'CCL4', 'score': 39.81}, {'connected_gene': 'CCL3', 'score': 37.13}, {'connected_gene': 'CCL3L3', 'score': 33.18}, {'connected_gene': 'CCL4L2', 'score': 7.44}, {'connected_gene': 'CCL5', 'score': 2.48}, {'connected_gene': 'CCL23', 'score': 2.22}, {'connected_gene': 'GGNBP2', 'score': 1.51}, {'connected_gene': 'ENSG00000282738', 'score': 0.44}, {'connected_gene': 'LOC101927369', 'score': 0.44}, {'connected_gene': 'GC17P036146', 'score': 0.44}, {'connected_gene': 'LOC100420851', 'score': 0.44}, {'connected_gene': 'ENSG00000276241', 'score': 0.28}]
chr17 GH17I036058 36058029 36058194 0.23 [{'connected_gene': 'CCL4', 'score': 36.05}, {'connected_gene': 'CCL3', 'score': 34.35}, {'connected_gene': 'CCL3L3', 'score': 33.68}, {'connected_gene': 'CCL15', 'score': 10.8}, {'connected_gene': 'CCL23', 'score': 3.68}, {'connected_gene': 'CCL5', 'score': 2.49}, {'connected_gene': 'LOC105371746', 'score': 0.77}, {'connected_gene': 'GC17M036102', 'score': 0.29}]
chr17 GH17I036102 36102926 36109083 1.81 [{'connected_gene': 'CCL4', 'score': 591.35}, {'connected_gene': 'CCL3', 'score': 41.06}, {'connected_gene': 'CCL3L3', 'score': 35.07}, {'connected_gene': 'CCL5', 'score': 13.6}, {'connected_gene': 'CCL18', 'score': 11.22}, {'connected_gene': 'CCL15', 'score': 10.85}, {'connected_gene': 'PIGW', 'score': 9.55}, {'connected_gene': 'SLFN12L', 'score': 5.42}, {'connected_gene': 'MYO19', 'score': 4.92}, {'connected_gene': 'GGNBP2', 'score': 2.35}, {'connected_gene': 'CCL23', 'score': 1.52}, {'connected_gene': 'GC17P036104', 'score': 0.77}, {'connected_gene': 'GC17P036113', 'score': 0.77}]
chr17 GH17I036055 36055983 36056443 0.33 [{'connected_gene': 'CCL3L3', 'score': 48.14}, {'connected_gene': 'CCL4', 'score': 43.64}, {'connected_gene': 'CCL3', 'score': 42.17}, {'connected_gene': 'CCL5', 'score': 2.79}, {'connected_gene': 'CCL23', 'score': 2.69}, {'connected_gene': 'LOC105371746', 'score': 0.44}, {'connected_gene': 'GC17M036102', 'score': 0.29}]
chr17 GH17I036149 36148892 36149839 1.38 [{'connected_gene': 'LOC101927369', 'score': 550.77}, {'connected_gene': 'CCL4', 'score': 62.85}, {'connected_gene': 'CCL3', 'score': 61.03}, {'connected_gene': 'CCL3L3', 'score': 52.27}, {'connected_gene': 'CCL5', 'score': 3.0}, {'connected_gene': 'CCL23', 'score': 2.49}, {'connected_gene': 'GGNBP2', 'score': 1.88}, {'connected_gene': 'GC17P036146', 'score': 0.77}, {'connected_gene': 'ENSG00000282738', 'score': 0.39}, {'connected_gene': 'LOC100420851', 'score': 0.39}, {'connected_gene': 'ENSG00000276241', 'score': 0.29}]
chr17 GH17I035533 35533194 35542151 2.13 [{'connected_gene': 'SLFN12L', 'score': 565.18}, {'connected_gene': 'AP2B1', 'score': 15.59}, {'connected_gene': 'CCL5', 'score': 13.23}, {'connected_gene': 'ZNF830', 'score': 12.83}, {'connected_gene': 'PEX12', 'score': 12.06}, {'connected_gene': 'LIG3', 'score': 11.68}, {'connected_gene': 'SLFN5', 'score': 7.32}, {'connected_gene': 'TAF5LP1', 'score': 6.78}, {'connected_gene': 'GAS2L2', 'score': 5.5}, {'connected_gene': 'SLFN11', 'score': 5.33}, {'connected_gene': 'CCL14', 'score': 4.84}, {'connected_gene': 'RFFL', 'score': 4.25}, {'connected_gene': 'CCL23', 'score': 1.28}, {'connected_gene': 'ENSG00000267035', 'score': 0.77}, {'connected_gene': 'GC17P035523', 'score': 0.39}]
chr17 GH17I035486 35486628 35488800 1.74 [{'connected_gene': 'SLFN12L', 'score': 560.95}, {'connected_gene': 'SLFN13', 'score': 11.59}, {'connected_gene': 'SLFN5', 'score': 10.24}, {'connected_gene': 'NLE1', 'score': 10.15}, {'connected_gene': 'CCL23', 'score': 4.66}, {'connected_gene': 'E2F3P1', 'score': 0.77}, {'connected_gene': 'ENSG00000267349', 'score': 0.44}]
chr17 GH17I035888 35888487 35894010 1.47 [{'connected_gene': 'ENSG00000271394', 'score': 550.77}, {'connected_gene': 'GC17M035888', 'score': 550.77}, {'connected_gene': 'CCL3', 'score': 22.25}, {'connected_gene': 'CCL4', 'score': 20.3}, {'connected_gene': 'CCL3L3', 'score': 18.82}, {'connected_gene': 'TAF15', 'score': 11.89}, {'connected_gene': 'GAS2L2', 'score': 11.52}, {'connected_gene': 'C17orf50', 'score': 9.27}, {'connected_gene': 'HEATR9', 'score': 5.59}, {'connected_gene': 'CCL5', 'score': 3.8}, {'connected_gene': 'SLFN12L', 'score': 2.39}, {'connected_gene': 'LYZL6', 'score': 2.17}, {'connected_gene': 'CCL23', 'score': 1.52}, {'connected_gene': 'GC17M035909', 'score': 0.37}, {'connected_gene': 'PIR57610', 'score': 0.37}, {'connected_gene': 'LRRC37A8P', 'score': 0.37}]