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
ENST00000409634 [[164449905, 164450306], [164591412, 164591582], [164592347, 164592522]] [[164450241, 164450306], [164591412, 164591437]]
ENST00000333129 [[164459120, 164468316], [164591412, 164591582], [164592347, 164592517]] [[164466061, 164468316], [164591412, 164591437]]
ENST00000482917 [[164467863, 164468316], [164592347, 164592494]] None
NM_018086 [[164461446, 164468316], [164591412, 164591582], [164592347, 164592517]] [[164466061, 164468316], [164591412, 164591437]]
NM_001321825 [[164461446, 164468316], [164592347, 164592517]] [[164466061, 164468308]]
Promoter
Chrom Start End Description
chr2 164591538 164591547 CAGE_peak_14_at_FIGN_5end
chr2 164592392 164592418 CAGE_peak_3_at_FIGN_5end
chr2 164592422 164592434 CAGE_peak_9_at_FIGN_5end
chr2 164592437 164592442 CAGE_peak_11_at_FIGN_5end
chr2 164592497 164592573 CAGE_peak_1_at_FIGN_5end
chr2 164592670 164592687 CAGE_peak_4_at_FIGN_5end
chr2 164592691 164592749 CAGE_peak_2_at_FIGN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I163569 163569183 163569191 0.22 [{'connected_gene': 'FIGN', 'score': 5.48}, {'connected_gene': 'GC02M163564', 'score': 0.37}, {'connected_gene': 'LOC105373728', 'score': 0.13}]
chr2 GH02I163430 163430173 163430466 0.22 [{'connected_gene': 'FIGN', 'score': 2.33}, {'connected_gene': 'LOC105373728', 'score': 0.34}, {'connected_gene': 'GC02P163335', 'score': 0.15}]
chr2 GH02I164134 164134762 164135014 0.25 [{'connected_gene': 'FIGN', 'score': 5.06}, {'connected_gene': 'GC02P164198', 'score': 0.21}, {'connected_gene': 'GC02P164066', 'score': 0.2}, {'connected_gene': 'ENSG00000237844', 'score': 0.08}]
chr2 GH02I163894 163894419 163894584 0.22 [{'connected_gene': 'FIGN', 'score': 2.08}, {'connected_gene': 'GC02P163800', 'score': 0.16}, {'connected_gene': 'GC02P164066', 'score': 0.09}, {'connected_gene': 'ENSG00000237844', 'score': 0.05}]
chr2 GH02I163677 163677885 163678180 0.22 [{'connected_gene': 'FIGN', 'score': 18.58}, {'connected_gene': 'GC02P163605', 'score': 0.19}]
chr2 GH02I163706 163706863 163706987 0.43 [{'connected_gene': 'FIGN', 'score': 5.92}, {'connected_gene': 'GC02P163605', 'score': 0.15}]
chr2 GH02I163713 163712915 163716425 0.65 [{'connected_gene': 'FIGN', 'score': 17.03}, {'connected_gene': 'GC02P163605', 'score': 0.14}]
chr2 GH02I163717 163717497 163718948 1.39 [{'connected_gene': 'FIGN', 'score': 4.41}, {'connected_gene': 'GC02P163605', 'score': 0.14}]
chr2 GH02I163662 163662441 163662667 0.34 [{'connected_gene': 'FIGN', 'score': 8.6}, {'connected_gene': 'GC02P163605', 'score': 0.22}]
chr2 GH02I163665 163665867 163668594 1.08 [{'connected_gene': 'FIGN', 'score': 11.45}, {'connected_gene': 'GC02P163605', 'score': 0.21}]
chr2 GH02I163701 163701846 163703519 0.31 [{'connected_gene': 'FIGN', 'score': 11.92}, {'connected_gene': 'GC02P163605', 'score': 0.15}]
chr2 GH02I163689 163689424 163694898 0.6 [{'connected_gene': 'FIGN', 'score': 4.75}, {'connected_gene': 'GC02P163605', 'score': 0.17}]
chr2 GH02I163712 163712067 163712312 0.6 [{'connected_gene': 'FIGN', 'score': 13.69}, {'connected_gene': 'GC02P163605', 'score': 0.14}]
chr2 GH02I163725 163725675 163729277 0.43 [{'connected_gene': 'FIGN', 'score': 4.38}, {'connected_gene': 'GC02P163605', 'score': 0.13}]
chr2 GH02I163709 163709762 163711072 0.2 [{'connected_gene': 'FIGN', 'score': 13.66}, {'connected_gene': 'GC02P163605', 'score': 0.14}]
chr2 GH02I163697 163697300 163699600 0.46 [{'connected_gene': 'FIGN', 'score': 0.28}, {'connected_gene': 'GC02P163605', 'score': 0.16}]
chr2 GH02I163732 163732758 163737733 2.55 [{'connected_gene': 'FIGN', 'score': 550.77}, {'connected_gene': 'GC02P163605', 'score': 0.12}]
chr2 GH02I163711 163711181 163711636 0.6 [{'connected_gene': 'FIGN', 'score': 13.69}, {'connected_gene': 'GC02P163605', 'score': 0.14}]
chr2 GH02I163680 163680477 163683958 0.54 [{'connected_gene': 'FIGN', 'score': 16.49}, {'connected_gene': 'GC02P163605', 'score': 0.18}]
chr2 GH02I163334 163334670 163335015 0.22 [{'connected_gene': 'GC02P163335', 'score': 550.77}, {'connected_gene': 'FIGN', 'score': 12.34}, {'connected_gene': 'RNU6-627P', 'score': 0.25}]
chr2 GH02I163593 163593634 163595248 0.8 [{'connected_gene': 'GC02M163564', 'score': 0.44}, {'connected_gene': 'GC02P163605', 'score': 0.39}, {'connected_gene': 'FIGN', 'score': 0.11}]
chr2 GH02I163608 163608747 163609085 0.51 [{'connected_gene': 'GC02P163605', 'score': 0.77}, {'connected_gene': 'FIGN', 'score': 0.13}]
chr2 GH02I163624 163624722 163624948 0.4 [{'connected_gene': 'GC02P163605', 'score': 0.37}, {'connected_gene': 'FIGN', 'score': 0.14}]
chr2 GH02I163664 163664490 163665552 0.64 [{'connected_gene': 'GC02P163605', 'score': 0.22}, {'connected_gene': 'FIGN', 'score': 0.19}]
chr2 GH02I163601 163601042 163601856 0.46 [{'connected_gene': 'GC02P163605', 'score': 0.77}, {'connected_gene': 'GC02M163564', 'score': 0.39}, {'connected_gene': 'FIGN', 'score': 0.12}]
chr2 GH02I163613 163613518 163613775 0.51 [{'connected_gene': 'GC02P163605', 'score': 0.44}, {'connected_gene': 'FIGN', 'score': 0.13}]
chr2 GH02I163609 163609088 163609335 0.4 [{'connected_gene': 'GC02P163605', 'score': 0.77}, {'connected_gene': 'FIGN', 'score': 0.13}]
chr2 GH02I163658 163658069 163660139 0.46 [{'connected_gene': 'GC02P163605', 'score': 0.23}, {'connected_gene': 'FIGN', 'score': 0.18}]
chr2 GH02I163612 163612266 163612613 0.51 [{'connected_gene': 'GC02P163605', 'score': 0.44}, {'connected_gene': 'FIGN', 'score': 0.13}]
chr2 GH02I163602 163602608 163602869 0.4 [{'connected_gene': 'GC02P163605', 'score': 0.77}, {'connected_gene': 'GC02M163564', 'score': 0.37}, {'connected_gene': 'FIGN', 'score': 0.12}]
chr2 GH02I163604 163604368 163605548 0.71 [{'connected_gene': 'GC02P163605', 'score': 550.77}, {'connected_gene': 'GC02M163564', 'score': 0.37}, {'connected_gene': 'FIGN', 'score': 0.12}]
chr2 GH02I163603 163602890 163603247 0.4 [{'connected_gene': 'GC02P163605', 'score': 0.77}, {'connected_gene': 'GC02M163564', 'score': 0.37}, {'connected_gene': 'FIGN', 'score': 0.12}]
chr2 GH02I163627 163626791 163626940 0.6 [{'connected_gene': 'GC02P163605', 'score': 0.34}, {'connected_gene': 'FIGN', 'score': 0.14}]
chr2 GH02I163656 163656422 163658000 0.51 [{'connected_gene': 'GC02P163605', 'score': 0.23}, {'connected_gene': 'FIGN', 'score': 0.18}]
chr2 GH02I163626 163626431 163626580 0.31 [{'connected_gene': 'GC02P163605', 'score': 0.34}, {'connected_gene': 'FIGN', 'score': 0.14}]