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
ENST00000375670 [[31175280, 31175358], [31189314, 31189498], [31196111, 31196695]] [[31189468, 31189498], [31196111, 31196504]]
ENST00000375671 [[31189438, 31189498], [31196111, 31196571]] [[31189468, 31189498], [31196111, 31196504]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I032605 32605127 32605426 0.58 [{'connected_gene': 'DNMT3B', 'score': 2.38}, {'connected_gene': 'MAPRE1', 'score': 2.21}, {'connected_gene': 'PLAGL2', 'score': 1.49}, {'connected_gene': 'NOL4L', 'score': 0.34}, {'connected_gene': 'NOL4L-DT', 'score': 0.26}, {'connected_gene': 'C20orf203', 'score': 0.2}]
chr20 GH20I032566 32566585 32567892 0.86 [{'connected_gene': 'ASXL1', 'score': 27.52}, {'connected_gene': 'TM9SF4', 'score': 12.83}, {'connected_gene': 'PDRG1', 'score': 12.14}, {'connected_gene': 'CDK5RAP1', 'score': 10.62}, {'connected_gene': 'PLAGL2', 'score': 10.51}, {'connected_gene': 'POFUT1', 'score': 9.83}, {'connected_gene': 'BAK1P1', 'score': 9.82}, {'connected_gene': 'NOL4L-DT', 'score': 0.77}, {'connected_gene': 'ENSG00000233293', 'score': 0.44}, {'connected_gene': 'ENSG00000228156', 'score': 0.39}, {'connected_gene': 'NOL4L', 'score': 0.37}]
chr20 GH20I032568 32568206 32571187 1.13 [{'connected_gene': 'ASXL1', 'score': 13.35}, {'connected_gene': 'CDK5RAP1', 'score': 11.96}, {'connected_gene': 'PLAGL2', 'score': 10.51}, {'connected_gene': 'TM9SF4', 'score': 10.27}, {'connected_gene': 'NOL4L-DT', 'score': 5.78}, {'connected_gene': 'C20orf203', 'score': 4.08}, {'connected_gene': 'ENSG00000233293', 'score': 0.44}, {'connected_gene': 'ENSG00000228156', 'score': 0.39}, {'connected_gene': 'NOL4L', 'score': 0.37}]
chr20 GH20I032554 32554963 32555709 0.76 [{'connected_gene': 'ASXL1', 'score': 18.0}, {'connected_gene': 'CDK5RAP1', 'score': 14.12}, {'connected_gene': 'NOL4L-DT', 'score': 6.57}, {'connected_gene': 'ENSG00000233293', 'score': 0.44}, {'connected_gene': 'LOC105372592', 'score': 0.37}, {'connected_gene': 'NOL4L', 'score': 0.31}]
chr20 GH20I032579 32579159 32579308 0.66 [{'connected_gene': 'COMMD7', 'score': 11.15}, {'connected_gene': 'ENSG00000228156', 'score': 0.77}, {'connected_gene': 'NOL4L', 'score': 0.44}, {'connected_gene': 'NOL4L-DT', 'score': 0.39}]
chr20 GH20I032564 32564704 32565762 1.31 [{'connected_gene': 'NOL4L-DT', 'score': 550.77}, {'connected_gene': 'MAPRE1', 'score': 4.38}, {'connected_gene': 'PLAGL2', 'score': 2.27}, {'connected_gene': 'ENSG00000233293', 'score': 0.77}, {'connected_gene': 'ENSG00000228156', 'score': 0.37}, {'connected_gene': 'NOL4L', 'score': 0.37}]
chr20 GH20I032533 32533781 32545332 2.05 [{'connected_gene': 'NOL4L-DT', 'score': 6.4}, {'connected_gene': 'ENSG00000260257', 'score': 4.31}, {'connected_gene': 'ASXL1', 'score': 3.25}, {'connected_gene': 'LOC105372592', 'score': 0.77}, {'connected_gene': 'ENSG00000233293', 'score': 0.34}, {'connected_gene': 'NOL4L', 'score': 0.25}]
chr20 GH20I032565 32564021 32564426 0.76 [{'connected_gene': 'NOL4L-DT', 'score': 557.08}, {'connected_gene': 'ENSG00000233293', 'score': 0.77}, {'connected_gene': 'NOL4L', 'score': 0.34}]
chr20 GH20I032573 32573912 32576169 1.36 [{'connected_gene': 'RSL24D1P6', 'score': 17.92}, {'connected_gene': 'ASXL1', 'score': 17.52}, {'connected_gene': 'PDRG1', 'score': 12.14}, {'connected_gene': 'TM9SF4', 'score': 11.77}, {'connected_gene': 'CDK5RAP1', 'score': 11.38}, {'connected_gene': 'BAK1P1', 'score': 10.32}, {'connected_gene': 'NOL4L-DT', 'score': 7.16}, {'connected_gene': 'TSPY26P', 'score': 5.02}, {'connected_gene': 'ENSG00000228156', 'score': 0.44}, {'connected_gene': 'NOL4L', 'score': 0.39}]
chr20 GH20I032585 32585919 32586088 0.85 [{'connected_gene': 'NOL4L', 'score': 550.77}, {'connected_gene': 'ENSG00000228156', 'score': 0.77}, {'connected_gene': 'NOL4L-DT', 'score': 0.34}, {'connected_gene': 'C20orf203', 'score': 0.17}]
chr20 GH20I032586 32585699 32585908 0.84 [{'connected_gene': 'NOL4L', 'score': 550.77}, {'connected_gene': 'ENSG00000228156', 'score': 0.77}, {'connected_gene': 'NOL4L-DT', 'score': 0.34}, {'connected_gene': 'C20orf203', 'score': 0.17}]
chr20 GH20I032587 32586122 32586283 0.76 [{'connected_gene': 'NOL4L', 'score': 550.77}, {'connected_gene': 'ENSG00000228156', 'score': 0.77}, {'connected_gene': 'NOL4L-DT', 'score': 0.34}, {'connected_gene': 'C20orf203', 'score': 0.17}]
chr20 GH20I032559 32559439 32563088 1.39 [{'connected_gene': 'ENSG00000233293', 'score': 550.77}, {'connected_gene': 'ASXL1', 'score': 13.35}, {'connected_gene': 'CDK5RAP1', 'score': 11.96}, {'connected_gene': 'TM9SF4', 'score': 10.27}, {'connected_gene': 'MYLK2', 'score': 4.14}, {'connected_gene': 'NOL4L-DT', 'score': 0.77}, {'connected_gene': 'NOL4L', 'score': 0.34}]
chr20 GH20I032571 32571444 32572494 0.6 [{'connected_gene': 'ENSG00000228156', 'score': 0.44}, {'connected_gene': 'NOL4L-DT', 'score': 0.44}, {'connected_gene': 'ENSG00000233293', 'score': 0.39}, {'connected_gene': 'NOL4L', 'score': 0.39}]
chr20 GH20I032521 32521211 32530149 2.04 [{'connected_gene': 'ENSG00000233293', 'score': 13.26}, {'connected_gene': 'NOL4L', 'score': 13.2}, {'connected_gene': 'COMMD7', 'score': 11.12}, {'connected_gene': 'HCK', 'score': 9.17}, {'connected_gene': 'MAPRE1', 'score': 5.29}, {'connected_gene': 'C20orf203', 'score': 5.16}, {'connected_gene': 'NOL4L-DT', 'score': 4.92}, {'connected_gene': 'ENSG00000260257', 'score': 4.24}, {'connected_gene': 'PLAGL2', 'score': 3.67}, {'connected_gene': 'LOC105372592', 'score': 0.39}, {'connected_gene': 'GC20P032510', 'score': 0.37}]
chr20 GH20I032580 32580035 32585601 2.49 [{'connected_gene': 'ENSG00000228156', 'score': 550.77}, {'connected_gene': 'NOL4L', 'score': 550.77}, {'connected_gene': 'ENSG00000233293', 'score': 13.08}, {'connected_gene': 'COMMD7', 'score': 11.15}, {'connected_gene': 'NOL4L-DT', 'score': 7.08}, {'connected_gene': 'C20orf203', 'score': 3.38}, {'connected_gene': 'DNMT3B', 'score': 1.95}]
chr20 GH20I032516 32516351 32518727 0.97 [{'connected_gene': 'ENSG00000233293', 'score': 12.2}, {'connected_gene': 'NOL4L', 'score': 12.14}, {'connected_gene': 'NOL4L-DT', 'score': 5.94}, {'connected_gene': 'GC20P032510', 'score': 0.44}, {'connected_gene': 'LOC101929698', 'score': 0.44}, {'connected_gene': 'LOC105372592', 'score': 0.37}]
chr20 GH20I032507 32507526 32512600 1.38 [{'connected_gene': 'GC20P032510', 'score': 550.77}, {'connected_gene': 'LOC101929698', 'score': 550.77}, {'connected_gene': 'ENSG00000233293', 'score': 11.82}, {'connected_gene': 'NOL4L', 'score': 11.78}, {'connected_gene': 'ENSG00000236772', 'score': 11.68}, {'connected_gene': 'NOL4L-DT', 'score': 4.72}, {'connected_gene': 'TSPY26P', 'score': 4.37}, {'connected_gene': 'LOC105372592', 'score': 0.31}]