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
ENST00000376753 [[11724180, 11724312], [11728712, 11729001], [11731322, 11731449], [11731984, 11732080], [11733333, 11733469], [11733671, 11734411]] [[11728715, 11729001], [11731322, 11731449], [11731984, 11732080], [11733333, 11733469], [11733671, 11733908]]
ENST00000474239 [[11724542, 11724792], [11728712, 11729001], [11731322, 11731449], [11731984, 11732121]] None
ENST00000449067 [[11728752, 11729001], [11731322, 11731449], [11733333, 11733469], [11733671, 11734087]] [[11728752, 11729001], [11731322, 11731449], [11733333, 11733469], [11733671, 11733908]]
NM_018438 [[11724149, 11724312], [11728712, 11729001], [11731322, 11731449], [11731984, 11732080], [11733333, 11733469], [11733671, 11734411]] [[11728715, 11729001], [11731322, 11731449], [11731984, 11732080], [11733333, 11733469], [11733671, 11733908]]
Promoter
Chrom Start End Description
chr1 11724144 11724161 CAGE_peak_4_at_FBXO6_5end
chr1 11724167 11724197 CAGE_peak_2_at_FBXO6_5end
chr1 11724249 11724289 CAGE_peak_1_at_FBXO6_5end
chr1 11724407 11724431 CAGE_peak_3_at_FBXO6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I011978 11978437 11987026 2.78 [{'connected_gene': 'MFN2', 'score': 620.69}, {'connected_gene': 'ENSG00000226849', 'score': 21.95}, {'connected_gene': 'EXOSC10', 'score': 18.43}, {'connected_gene': 'MIIP', 'score': 18.04}, {'connected_gene': 'TNFRSF1B', 'score': 16.91}, {'connected_gene': 'PLOD1', 'score': 16.62}, {'connected_gene': 'CLCN6', 'score': 15.24}, {'connected_gene': 'TARDBP', 'score': 13.01}, {'connected_gene': 'KIAA2013', 'score': 11.56}, {'connected_gene': 'RNU5E-4P', 'score': 11.25}, {'connected_gene': 'RNU5E-1', 'score': 11.25}, {'connected_gene': 'NPPB', 'score': 10.29}, {'connected_gene': 'MTHFR', 'score': 7.41}, {'connected_gene': 'TNFRSF8', 'score': 6.4}, {'connected_gene': 'AGTRAP', 'score': 5.2}, {'connected_gene': 'FBXO6', 'score': 3.22}, {'connected_gene': 'ENSG00000270914', 'score': 0.29}]
chr1 GH01I012156 12156985 12164264 1.79 [{'connected_gene': 'TNFRSF1B', 'score': 35.67}, {'connected_gene': 'MTHFR', 'score': 10.03}, {'connected_gene': 'TNFRSF8', 'score': 8.29}, {'connected_gene': 'CLCN6', 'score': 7.03}, {'connected_gene': 'AGTRAP', 'score': 5.6}, {'connected_gene': 'FBXO6', 'score': 2.41}, {'connected_gene': 'MFN2', 'score': 1.87}, {'connected_gene': 'MIR7846', 'score': 0.44}, {'connected_gene': 'RPL23AP89', 'score': 0.18}]
chr1 GH01I012140 12140104 12154599 1.73 [{'connected_gene': 'TNFRSF1B', 'score': 24.03}, {'connected_gene': 'MTHFR', 'score': 9.71}, {'connected_gene': 'TNFRSF8', 'score': 7.53}, {'connected_gene': 'CLCN6', 'score': 7.18}, {'connected_gene': 'AGTRAP', 'score': 4.94}, {'connected_gene': 'NPPA-AS1', 'score': 4.65}, {'connected_gene': 'FBXO6', 'score': 2.13}, {'connected_gene': 'MFN2', 'score': 1.71}, {'connected_gene': 'MIR7846', 'score': 0.37}, {'connected_gene': 'RPL23AP89', 'score': 0.2}]
chr1 GH01I011738 11738861 11739064 0.83 [{'connected_gene': 'TNFRSF1B', 'score': 14.74}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 5.44}, {'connected_gene': 'CLCN6', 'score': 5.44}, {'connected_gene': 'FBXO6', 'score': 4.42}, {'connected_gene': 'AGTRAP', 'score': 3.18}, {'connected_gene': 'TNFRSF8', 'score': 2.54}, {'connected_gene': 'MFN2', 'score': 1.81}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1 GH01I011735 11735202 11738570 2.53 [{'connected_gene': 'AGTRAP', 'score': 570.93}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'TNFRSF1B', 'score': 14.62}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 4.68}, {'connected_gene': 'CLCN6', 'score': 4.13}, {'connected_gene': 'TNFRSF8', 'score': 2.69}, {'connected_gene': 'FBXO6', 'score': 2.63}, {'connected_gene': 'MFN2', 'score': 1.62}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1 GH01I011663 11663624 11665424 1.95 [{'connected_gene': 'FBXO6', 'score': 564.76}, {'connected_gene': 'FBXO44', 'score': 6.28}, {'connected_gene': 'MIIP', 'score': 4.99}, {'connected_gene': 'PIR43631', 'score': 0.39}]
chr1 GH01I011652 11652495 11655556 1.88 [{'connected_gene': 'FBXO2', 'score': 566.86}, {'connected_gene': 'FBXO44', 'score': 550.77}, {'connected_gene': 'FBXO6', 'score': 6.01}, {'connected_gene': 'GC01M011650', 'score': 0.77}]
chr1 GH01I011680 11680200 11683663 2.22 [{'connected_gene': 'MAD2L2', 'score': 564.27}, {'connected_gene': 'FBXO6', 'score': 8.39}, {'connected_gene': 'DRAXIN', 'score': 0.77}, {'connected_gene': 'PIR43631', 'score': 0.44}]
chr1 GH01I011670 11670222 11672622 1.01 [{'connected_gene': 'MAD2L2', 'score': 12.51}, {'connected_gene': 'FBXO6', 'score': 8.85}, {'connected_gene': 'PIR43631', 'score': 0.77}]
chr1 GH01I011676 11676255 11677875 0.65 [{'connected_gene': 'PIR43631', 'score': 550.77}, {'connected_gene': 'FBXO6', 'score': 13.59}, {'connected_gene': 'DRAXIN', 'score': 0.44}, {'connected_gene': 'MAD2L2', 'score': 0.39}]