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
ENST00000217740 [[29598334, 29598990], [29617078, 29617232], [29622141, 29622236], [29625604, 29625695], [29645864, 29645972], [29648260, 29653176]] [[29598826, 29598990], [29617078, 29617232], [29622141, 29622236], [29625604, 29625695], [29645864, 29645972], [29648260, 29648347]]
ENST00000580209 [[29617147, 29617232], [29625604, 29625695], [29645864, 29646104]] [[29617147, 29617232], [29625604, 29625640]]
ENST00000583384 [[29621785, 29621946], [29622141, 29622236], [29625604, 29625695], [29645864, 29645972], [29648260, 29648452]] None
ENST00000583814 [[29621868, 29622236], [29625604, 29625695], [29648260, 29648513]] None
ENST00000580863 [[29622041, 29622236], [29625604, 29625695], [29645864, 29645972], [29648260, 29648391]] None
NM_017831 [[29598444, 29598990], [29617078, 29617232], [29622141, 29622236], [29625604, 29625695], [29645864, 29645972], [29648260, 29653154]] [[29598826, 29598990], [29617078, 29617232], [29622141, 29622236], [29625604, 29625695], [29645864, 29645972], [29648260, 29648347]]
Promoter
Chrom Start End Description
chr18 29598416 29598428 CAGE_peak_4_at_RNF125_5end
chr18 29598466 29598479 CAGE_peak_7_at_RNF125_5end
chr18 29598534 29598543 CAGE_peak_8_at_RNF125_5end
chr18 29598576 29598585 CAGE_peak_6_at_RNF125_5end
chr18 29598595 29598601 CAGE_peak_9_at_RNF125_5end
chr18 29598620 29598630 CAGE_peak_5_at_RNF125_5end
chr18 29598649 29598659 CAGE_peak_2_at_RNF125_5end
chr18 29598769 29598776 CAGE_peak_3_at_RNF125_5end
chr18 29598780 29598805 CAGE_peak_1_at_RNF125_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I031645 31645978 31649502 1.48 [{'connected_gene': 'B4GALT6', 'score': 12.07}, {'connected_gene': 'RNF125', 'score': 1.18}, {'connected_gene': 'GC18M031541', 'score': 0.34}, {'connected_gene': 'GC18P031684', 'score': 0.28}]
chr18 GH18I032017 32017188 32021117 2.35 [{'connected_gene': 'RNF125', 'score': 574.63}, {'connected_gene': 'ENSG00000263917', 'score': 550.77}, {'connected_gene': 'RNF138', 'score': 11.69}, {'connected_gene': 'TRAPPC8', 'score': 1.49}, {'connected_gene': 'ENSG00000274275', 'score': 0.39}]
chr18 GH18I032039 32039548 32043673 0.74 [{'connected_gene': 'RNF125', 'score': 13.15}, {'connected_gene': 'TRAPPC8', 'score': 11.92}, {'connected_gene': 'RNU6-1050P', 'score': 11.3}, {'connected_gene': 'HMGN2P44', 'score': 0.44}, {'connected_gene': 'GC18M032052', 'score': 0.37}, {'connected_gene': 'ENSG00000263917', 'score': 0.34}]
chr18 GH18I032009 32009901 32010922 0.49 [{'connected_gene': 'RNF125', 'score': 0.44}, {'connected_gene': 'ENSG00000280380', 'score': 0.31}]
chr18 GH18I032047 32047956 32051237 1.27 [{'connected_gene': 'RNF138', 'score': 2.45}, {'connected_gene': 'RNF125', 'score': 2.29}, {'connected_gene': 'GC18M032052', 'score': 0.39}, {'connected_gene': 'HMGN2P44', 'score': 0.37}, {'connected_gene': 'ENSG00000263917', 'score': 0.29}]
chr18 GH18I032021 32021517 32023302 0.52 [{'connected_gene': 'RNF138', 'score': 11.14}, {'connected_gene': 'TRAPPC8', 'score': 11.14}, {'connected_gene': 'RNU6-1050P', 'score': 10.81}, {'connected_gene': 'RNF125', 'score': 0.77}, {'connected_gene': 'ENSG00000263917', 'score': 0.77}, {'connected_gene': 'ENSG00000274275', 'score': 0.44}]
chr18 GH18I032066 32066758 32068808 0.49 [{'connected_gene': 'RNF138', 'score': 12.72}, {'connected_gene': 'TRAPPC8', 'score': 12.01}, {'connected_gene': 'RNU6-1050P', 'score': 11.5}, {'connected_gene': 'GC18M032076', 'score': 0.44}, {'connected_gene': 'GC18M032052', 'score': 0.44}, {'connected_gene': 'RNF125', 'score': 0.25}, {'connected_gene': 'ENSG00000263917', 'score': 0.25}]
chr18 GH18I032091 32091078 32095061 2.29 [{'connected_gene': 'RNF138', 'score': 561.27}, {'connected_gene': 'LOC107985133', 'score': 550.77}, {'connected_gene': 'ENSG00000263924', 'score': 34.0}, {'connected_gene': 'ENSG00000263393', 'score': 22.49}, {'connected_gene': 'HNRNPA1P7', 'score': 10.7}, {'connected_gene': 'TRAPPC8', 'score': 10.58}, {'connected_gene': 'RNF125', 'score': 5.26}, {'connected_gene': 'B4GALT6', 'score': 4.98}, {'connected_gene': 'ENSG00000263917', 'score': 0.19}]
chr18 GH18I032084 32084202 32087600 1.49 [{'connected_gene': 'TRAPPC8', 'score': 13.77}, {'connected_gene': 'RNF138', 'score': 11.95}, {'connected_gene': 'HNRNPA1P7', 'score': 10.06}, {'connected_gene': 'RPS15AP35', 'score': 0.44}, {'connected_gene': 'RNF125', 'score': 0.2}, {'connected_gene': 'ENSG00000263917', 'score': 0.2}]
chr18 GH18I032072 32072458 32072607 0.46 [{'connected_gene': 'TRAPPC8', 'score': 11.82}, {'connected_gene': 'RNU6-1050P', 'score': 11.44}, {'connected_gene': 'GC18M032076', 'score': 0.77}, {'connected_gene': 'GC18M032052', 'score': 0.39}, {'connected_gene': 'RNF125', 'score': 0.23}, {'connected_gene': 'ENSG00000263917', 'score': 0.23}]
chr18 GH18I031825 31825082 31827949 0.63 [{'connected_gene': 'TRAPPC8', 'score': 26.0}, {'connected_gene': 'RNU6-1050P', 'score': 10.87}, {'connected_gene': 'SLC25A52', 'score': 7.82}, {'connected_gene': 'RNF125', 'score': 4.48}, {'connected_gene': 'ENSG00000263924', 'score': 0.37}]
chr18 GH18I031984 31984098 31984227 0.31 [{'connected_gene': 'ENSG00000280380', 'score': 550.77}, {'connected_gene': 'RNF125', 'score': 13.01}, {'connected_gene': 'TRAPPC8', 'score': 12.0}, {'connected_gene': 'RNU6-1050P', 'score': 11.2}]
chr18 GH18I031982 31982578 31983447 0.63 [{'connected_gene': 'ENSG00000280380', 'score': 550.77}, {'connected_gene': 'RNF125', 'score': 12.99}, {'connected_gene': 'TRAPPC8', 'score': 12.01}, {'connected_gene': 'RNU6-1050P', 'score': 11.2}]
chr18 GH18I031992 31992849 31994067 0.4 [{'connected_gene': 'ENSG00000280380', 'score': 0.39}, {'connected_gene': 'RNF125', 'score': 0.34}]

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