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
ENST00000217420 [[37353104, 37353757], [37356094, 37358015]] [[37353367, 37353757], [37356094, 37357282]]
NM_080552 [[37353104, 37353757], [37356094, 37358015]] [[37353367, 37353757], [37356094, 37357282]]
Promoter
Chrom Start End Description
chr20 37352783 37352872 CAGE_peak_2_at_SLC32A1_5end
chr20 37353036 37353054 CAGE_peak_4_at_SLC32A1_5end
chr20 37353084 37353109 CAGE_peak_3_at_SLC32A1_5end
chr20 37353121 37353137 CAGE_peak_1_at_SLC32A1_5end
chr20 37353236 37353237 CAGE_peak_5_at_SLC32A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I039049 39049378 39050827 1.45 [{'connected_gene': 'DHX35', 'score': 6.16}, {'connected_gene': 'SLC32A1', 'score': 3.18}, {'connected_gene': 'PPP1R16B', 'score': 2.16}, {'connected_gene': 'PIR38411', 'score': 0.34}, {'connected_gene': 'NPM1P19', 'score': 0.19}]
chr20 GH20I038730 38730387 38731898 1.17 [{'connected_gene': 'SNHG17', 'score': 29.34}, {'connected_gene': 'ACTR5', 'score': 15.69}, {'connected_gene': 'SNORA71C', 'score': 14.05}, {'connected_gene': 'SNORA71A', 'score': 13.33}, {'connected_gene': 'RN7SKP173', 'score': 12.48}, {'connected_gene': 'RALGAPB', 'score': 12.23}, {'connected_gene': 'TTI1', 'score': 11.59}, {'connected_gene': 'RPS3P2', 'score': 10.66}, {'connected_gene': 'DHX35', 'score': 10.09}, {'connected_gene': 'ARHGAP40', 'score': 4.58}, {'connected_gene': 'SLC32A1', 'score': 0.44}]
chr20 GH20I038673 38673601 38675040 1.36 [{'connected_gene': 'ARHGAP40', 'score': 6.1}, {'connected_gene': 'KIAA1755', 'score': 5.05}, {'connected_gene': 'ACTR5', 'score': 1.58}, {'connected_gene': 'SLC32A1', 'score': 1.47}, {'connected_gene': 'PIR44827', 'score': 0.34}, {'connected_gene': 'GC20M038618', 'score': 0.22}]
chr20 GH20I038856 38856246 38856557 0.61 [{'connected_gene': 'PPP1R16B', 'score': 4.2}, {'connected_gene': 'ACTR5', 'score': 1.9}, {'connected_gene': 'SLC32A1', 'score': 1.35}, {'connected_gene': 'RN7SL116P', 'score': 0.37}]
chr20 GH20I038724 38724437 38724496 0.93 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038729 38729418 38729527 0.54 [{'connected_gene': 'SLC32A1', 'score': 0.44}, {'connected_gene': 'ACTR5', 'score': 0.37}]
chr20 GH20I038728 38727298 38727467 0.65 [{'connected_gene': 'SLC32A1', 'score': 0.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038727 38727618 38727727 0.54 [{'connected_gene': 'SLC32A1', 'score': 0.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038726 38725978 38726127 0.57 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038731 38728298 38728367 0.46 [{'connected_gene': 'SLC32A1', 'score': 0.77}, {'connected_gene': 'ACTR5', 'score': 0.37}]
chr20 GH20I038725 38725458 38725467 0.59 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038732 38725318 38725427 0.66 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038733 38725518 38725607 0.54 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038651 38651966 38652213 0.39 [{'connected_gene': 'SLC32A1', 'score': 3.81}, {'connected_gene': 'GC20M038618', 'score': 0.29}, {'connected_gene': 'PIR44827', 'score': 0.25}]
chr20 GH20I038722 38722671 38723271 0.67 [{'connected_gene': 'SLC32A1', 'score': 560.78}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ENSG00000277965', 'score': 0.39}]
chr20 GH20I038870 38870237 38877393 1.62 [{'connected_gene': 'RN7SL116P', 'score': 550.77}, {'connected_gene': 'PPP1R16B', 'score': 15.12}, {'connected_gene': 'FAM83D', 'score': 10.94}, {'connected_gene': 'ACTR5', 'score': 6.27}, {'connected_gene': 'SLC32A1', 'score': 2.79}, {'connected_gene': 'DHX35', 'score': 2.26}, {'connected_gene': 'RALGAPB', 'score': 2.09}, {'connected_gene': 'GC20M038907', 'score': 0.26}]