Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts
There is no corresponding data published yet, we will update it when such data available.


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Promoter
Chrom Start End Description
chr20 62667340 62667354 CAGE_peak_8_at_LINC00176_5end
chr20 62667528 62667542 CAGE_peak_1_at_LINC00176_5end
chr20 62667589 62667598 CAGE_peak_9_at_LINC00176_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I064181 64181589 64183010 0.2 [{'connected_gene': 'MYT1', 'score': 12.61}, {'connected_gene': 'PCMTD2', 'score': 11.74}, {'connected_gene': 'C20orf204', 'score': 4.59}, {'connected_gene': 'GC20P064162', 'score': 0.37}, {'connected_gene': 'GC20P064163', 'score': 0.37}, {'connected_gene': 'GC20M064230', 'score': 0.22}]
chr20 GH20I063971 63971708 63975497 1.47 [{'connected_gene': 'MIR647', 'score': 46.91}, {'connected_gene': 'UCKL1', 'score': 33.33}, {'connected_gene': 'PRPF6', 'score': 24.43}, {'connected_gene': 'C20orf204', 'score': 20.33}, {'connected_gene': 'RTEL1', 'score': 18.23}, {'connected_gene': 'TNFRSF6B', 'score': 15.32}, {'connected_gene': 'ARFRP1', 'score': 12.99}, {'connected_gene': 'YTHDF1', 'score': 12.92}, {'connected_gene': 'ENSG00000237371', 'score': 12.38}, {'connected_gene': 'PCMTD2', 'score': 12.22}, {'connected_gene': 'ZBTB46', 'score': 11.77}, {'connected_gene': 'ZNF512B', 'score': 11.14}, {'connected_gene': 'GMEB2', 'score': 10.7}, {'connected_gene': 'ARFGAP1', 'score': 10.62}, {'connected_gene': 'CICP4', 'score': 10.37}, {'connected_gene': 'SAMD10', 'score': 5.89}]
chr20 GH20I064052 64052774 64058497 2.24 [{'connected_gene': 'TCEA2', 'score': 567.33}, {'connected_gene': 'ENSG00000237371', 'score': 555.66}, {'connected_gene': 'SOX18', 'score': 23.91}, {'connected_gene': 'RGS19', 'score': 20.27}, {'connected_gene': 'PRPF6', 'score': 15.89}, {'connected_gene': 'OPRL1', 'score': 12.11}, {'connected_gene': 'SAMD10', 'score': 11.29}, {'connected_gene': 'ZNF512B', 'score': 11.27}, {'connected_gene': 'C20orf204', 'score': 4.9}, {'connected_gene': 'UCKL1', 'score': 1.76}, {'connected_gene': 'PIR32513', 'score': 0.77}]
chr20 GH20I064038 64038128 64042801 1.76 [{'connected_gene': 'TCEA2', 'score': 550.77}, {'connected_gene': 'C20orf204', 'score': 18.09}, {'connected_gene': 'PRPF6', 'score': 10.93}]
chr20 GH20I064062 64062187 64067505 2.5 [{'connected_gene': 'TCEA2', 'score': 560.58}, {'connected_gene': 'RGS19', 'score': 40.62}, {'connected_gene': 'MIR647', 'score': 14.29}, {'connected_gene': 'UCKL1', 'score': 11.96}, {'connected_gene': 'C20orf204', 'score': 6.64}, {'connected_gene': 'ENSG00000237371', 'score': 0.44}, {'connected_gene': 'MIR6813', 'score': 0.39}]
chr20 GH20I063947 63947108 63953047 1.95 [{'connected_gene': 'UCKL1', 'score': 572.49}, {'connected_gene': 'MIR647', 'score': 15.4}, {'connected_gene': 'ENSG00000237371', 'score': 12.35}, {'connected_gene': 'GMEB2', 'score': 10.7}, {'connected_gene': 'CICP4', 'score': 10.36}, {'connected_gene': 'PRPF6', 'score': 8.79}, {'connected_gene': 'C20orf204', 'score': 5.53}, {'connected_gene': 'UCKL1-AS1', 'score': 0.77}, {'connected_gene': 'PIR37009', 'score': 0.44}]
chr20 GH20I064044 64044300 64045568 1.4 [{'connected_gene': 'SOX18', 'score': 12.78}, {'connected_gene': 'PRPF6', 'score': 9.66}, {'connected_gene': 'C20orf204', 'score': 7.94}, {'connected_gene': 'TCEA2', 'score': 5.96}, {'connected_gene': 'UCKL1', 'score': 1.8}, {'connected_gene': 'SLC2A4RG', 'score': 1.58}, {'connected_gene': 'GC20M064049', 'score': 0.77}]
chr20 GH20I064048 64048800 64051377 2.17 [{'connected_gene': 'SOX18', 'score': 550.77}, {'connected_gene': 'PIR32513', 'score': 550.77}, {'connected_gene': 'GC20M064049', 'score': 550.77}, {'connected_gene': 'PRPF6', 'score': 9.14}, {'connected_gene': 'C20orf204', 'score': 8.74}, {'connected_gene': 'TCEA2', 'score': 0.44}]
chr20 GH20I064012 64012410 64014073 0.64 [{'connected_gene': 'C20orf204', 'score': 20.29}, {'connected_gene': 'MIR647', 'score': 15.16}, {'connected_gene': 'UCKL1', 'score': 13.89}, {'connected_gene': 'ENSG00000237371', 'score': 12.47}, {'connected_gene': 'GMEB2', 'score': 10.7}, {'connected_gene': 'CICP4', 'score': 10.37}, {'connected_gene': 'PRPF6', 'score': 0.29}]
chr20 GH20I064034 64034176 64037877 0.98 [{'connected_gene': 'C20orf204', 'score': 564.4}, {'connected_gene': 'PRPF6', 'score': 9.55}, {'connected_gene': 'RGS19', 'score': 4.73}, {'connected_gene': 'TCEA2', 'score': 0.44}]
chr20 GH20I064024 64024328 64024517 1.09 [{'connected_gene': 'C20orf204', 'score': 0.44}, {'connected_gene': 'PRPF6', 'score': 0.26}]
chr20 GH20I064009 64009712 64011901 0.65 [{'connected_gene': 'C20orf204', 'score': 23.85}, {'connected_gene': 'PRPF6', 'score': 0.31}]
chr20 GH20I064025 64025308 64026127 0.82 [{'connected_gene': 'C20orf204', 'score': 16.59}, {'connected_gene': 'PRPF6', 'score': 0.26}]
chr20 GH20I063977 63977402 63982206 2.57 [{'connected_gene': 'PRPF6', 'score': 574.2}, {'connected_gene': 'SAMD10', 'score': 553.99}, {'connected_gene': 'C20orf204', 'score': 23.29}, {'connected_gene': 'GMEB2', 'score': 18.27}, {'connected_gene': 'CICP4', 'score': 12.1}, {'connected_gene': 'RTEL1', 'score': 10.43}, {'connected_gene': 'ZNF512B', 'score': 0.44}]
chr20 GH20I064076 64076110 64081018 2.23 [{'connected_gene': 'RGS19', 'score': 592.66}, {'connected_gene': 'OPRL1', 'score': 553.75}, {'connected_gene': 'MIR6813', 'score': 550.77}, {'connected_gene': 'C20orf204', 'score': 5.14}, {'connected_gene': 'PRPF6', 'score': 4.51}, {'connected_gene': 'GMEB2', 'score': 2.69}, {'connected_gene': 'LIME1', 'score': 2.06}, {'connected_gene': 'PCMTD2', 'score': 1.57}, {'connected_gene': 'ZGPAT', 'score': 1.5}]
chr20 GH20I063845 63845668 63848984 1.46 [{'connected_gene': 'C20orf181', 'score': 550.77}, {'connected_gene': 'MIR647', 'score': 59.15}, {'connected_gene': 'DIDO1', 'score': 52.34}, {'connected_gene': 'UCKL1', 'score': 47.8}, {'connected_gene': 'PCMTD2', 'score': 43.95}, {'connected_gene': 'TNFRSF6B', 'score': 39.23}, {'connected_gene': 'ZNF512B', 'score': 36.11}, {'connected_gene': 'RTEL1', 'score': 27.91}, {'connected_gene': 'YTHDF1', 'score': 13.99}, {'connected_gene': 'ENSG00000237371', 'score': 12.29}, {'connected_gene': 'ZBTB46-AS1', 'score': 11.72}, {'connected_gene': 'DNAJC5', 'score': 11.05}, {'connected_gene': 'FNDC11', 'score': 10.95}, {'connected_gene': 'GMEB2', 'score': 10.72}, {'connected_gene': 'PRPF6', 'score': 10.57}, {'connected_gene': 'C20orf204', 'score': 10.57}, {'connected_gene': 'ENSG00000268858', 'score': 10.39}, {'connected_gene': 'CICP4', 'score': 10.36}, {'connected_gene': 'TCEA2', 'score': 10.33}, {'connected_gene': 'ARFRP1', 'score': 10.3}, {'connected_gene': 'ZBTB46', 'score': 10.22}, {'connected_gene': 'GC20M063809', 'score': 0.77}]