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
ENST00000491415 [[210001351, 210001515], [210003452, 210003492], [210004147, 210004388], [210006529, 210006703], [210008419, 210008508], [210010145, 210010556], [210012253, 210012473], [210014197, 210014400], [210015609, 210015792], [210015927, 210016040], [210016795, 210017041], [210024548, 210030910]] [[210001408, 210001515], [210003452, 210003492], [210004147, 210004388], [210006529, 210006703], [210008419, 210008508], [210010145, 210010556], [210012253, 210012473], [210014197, 210014400], [210015609, 210015792], [210015927, 210016040], [210016795, 210017041], [210024548, 210024792]]
ENST00000457820 [[210012149, 210012473], [210014197, 210014400], [210015609, 210017977]] [[210012149, 210012473], [210014197, 210014400], [210015609, 210015828]]
NM_014388 [[210001311, 210001515], [210003452, 210003492], [210004147, 210004388], [210006529, 210006703], [210008419, 210008508], [210010145, 210010556], [210012253, 210012473], [210014197, 210014400], [210015609, 210015792], [210015927, 210016040], [210016795, 210017041], [210024548, 210030910]] [[210001408, 210001515], [210003452, 210003492], [210004147, 210004388], [210006529, 210006703], [210008419, 210008508], [210010145, 210010556], [210012253, 210012473], [210014197, 210014400], [210015609, 210015792], [210015927, 210016040], [210016795, 210017041], [210024548, 210024792]]
Promoter
Chrom Start End Description
chr1 210001309 210001411 CAGE_peak_1_at_DIEXF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I209765 209765142 209772000 2.06 [{'connected_gene': 'TRAF3IP3', 'score': 567.63}, {'connected_gene': 'G0S2', 'score': 30.7}, {'connected_gene': 'DIEXF', 'score': 11.19}, {'connected_gene': 'ENSG00000224260', 'score': 9.46}, {'connected_gene': 'LAMB3', 'score': 8.64}, {'connected_gene': 'IRF6', 'score': 8.11}, {'connected_gene': 'C1orf74', 'score': 1.74}, {'connected_gene': 'LOC101930114', 'score': 0.39}]
chr1 GH01I210236 210236263 210238442 1.12 [{'connected_gene': 'HHAT', 'score': 11.18}, {'connected_gene': 'DIEXF', 'score': 10.74}, {'connected_gene': 'SERTAD4-AS1', 'score': 0.77}, {'connected_gene': 'SERTAD4', 'score': 0.77}, {'connected_gene': 'GC01P210243', 'score': 0.44}]
chr1 GH01I209672 209672349 209676552 2.25 [{'connected_gene': 'G0S2', 'score': 559.81}, {'connected_gene': 'GC01P209677', 'score': 550.77}, {'connected_gene': 'GC01P209676', 'score': 550.77}, {'connected_gene': 'DIEXF', 'score': 14.81}, {'connected_gene': 'LOC101930114', 'score': 6.32}, {'connected_gene': 'LAMB3', 'score': 0.34}]
chr1 GH01I209800 209800845 209810995 2.63 [{'connected_gene': 'IRF6', 'score': 578.59}, {'connected_gene': 'TRAF3IP3', 'score': 14.53}, {'connected_gene': 'DIEXF', 'score': 10.67}, {'connected_gene': 'SYT14', 'score': 7.44}, {'connected_gene': 'LAMB3', 'score': 1.81}, {'connected_gene': 'C1orf74', 'score': 0.34}]
chr1 GH01I209789 209789432 209793310 0.79 [{'connected_gene': 'IRF6', 'score': 24.32}, {'connected_gene': 'TRAF3IP3', 'score': 13.42}, {'connected_gene': 'DIEXF', 'score': 9.99}, {'connected_gene': 'SYT14', 'score': 6.04}, {'connected_gene': 'C1orf74', 'score': 0.44}]
chr1 GH01I209795 209795340 209798626 0.82 [{'connected_gene': 'IRF6', 'score': 25.19}, {'connected_gene': 'DIEXF', 'score': 11.02}, {'connected_gene': 'TRAF3IP3', 'score': 10.1}, {'connected_gene': 'SYT14', 'score': 6.03}, {'connected_gene': 'C1orf74', 'score': 0.39}]
chr1 GH01I209779 209779438 209781126 0.66 [{'connected_gene': 'IRF6', 'score': 19.16}, {'connected_gene': 'DIEXF', 'score': 10.33}, {'connected_gene': 'HSD11B1', 'score': 9.23}, {'connected_gene': 'C1orf74', 'score': 0.77}, {'connected_gene': 'LOC101930114', 'score': 0.34}, {'connected_gene': 'TRAF3IP3', 'score': 0.34}]
chr1 GH01I209829 209829059 209832767 0.49 [{'connected_gene': 'IRF6', 'score': 21.3}, {'connected_gene': 'DIEXF', 'score': 14.59}, {'connected_gene': 'SYT14', 'score': 11.2}, {'connected_gene': 'C1orf74', 'score': 10.75}, {'connected_gene': 'TRAF3IP3', 'score': 9.7}, {'connected_gene': 'GC01M209934', 'score': 0.14}]
chr1 GH01I209834 209834901 209837225 0.52 [{'connected_gene': 'IRF6', 'score': 21.25}, {'connected_gene': 'DIEXF', 'score': 14.04}, {'connected_gene': 'SYT14', 'score': 11.0}, {'connected_gene': 'GC01M209934', 'score': 0.15}]
chr1 GH01I209820 209820202 209821658 0.2 [{'connected_gene': 'IRF6', 'score': 21.12}, {'connected_gene': 'DIEXF', 'score': 14.66}, {'connected_gene': 'C1orf74', 'score': 11.46}, {'connected_gene': 'LOC101930114', 'score': 10.4}]
chr1 GH01I209903 209903638 209904950 0.2 [{'connected_gene': 'IRF6', 'score': 6.95}, {'connected_gene': 'GC01M209934', 'score': 0.29}, {'connected_gene': 'DIEXF', 'score': 0.18}]
chr1 GH01I209844 209844680 209847089 0.52 [{'connected_gene': 'IRF6', 'score': 20.8}, {'connected_gene': 'SYT14', 'score': 11.52}, {'connected_gene': 'TRAF3IP3', 'score': 8.39}, {'connected_gene': 'DIEXF', 'score': 0.37}, {'connected_gene': 'GC01M209934', 'score': 0.16}]
chr1 GH01I209838 209838094 209842183 1.16 [{'connected_gene': 'IRF6', 'score': 20.64}, {'connected_gene': 'SYT14', 'score': 14.59}, {'connected_gene': 'TRAF3IP3', 'score': 8.32}, {'connected_gene': 'DIEXF', 'score': 0.39}, {'connected_gene': 'GC01M209934', 'score': 0.15}]
chr1 GH01I209853 209853219 209857384 0.43 [{'connected_gene': 'IRF6', 'score': 20.35}, {'connected_gene': 'SYT14', 'score': 16.97}, {'connected_gene': 'TRAF3IP3', 'score': 11.7}, {'connected_gene': 'DIEXF', 'score': 11.22}, {'connected_gene': 'GC01M209934', 'score': 0.18}]
chr1 GH01I209811 209811438 209812971 0.31 [{'connected_gene': 'IRF6', 'score': 14.08}, {'connected_gene': 'C1orf74', 'score': 11.38}, {'connected_gene': 'TRAF3IP3', 'score': 10.79}, {'connected_gene': 'DIEXF', 'score': 0.37}]
chr1 GH01I209814 209814153 209818041 1.48 [{'connected_gene': 'IRF6', 'score': 17.61}, {'connected_gene': 'C1orf74', 'score': 11.48}, {'connected_gene': 'LOC101930114', 'score': 10.41}, {'connected_gene': 'SYT14', 'score': 7.54}, {'connected_gene': 'LAMB3', 'score': 2.92}, {'connected_gene': 'DIEXF', 'score': 0.39}]
chr1 GH01I209861 209860416 209860585 0.64 [{'connected_gene': 'DIEXF', 'score': 11.07}, {'connected_gene': 'TRAF3IP3', 'score': 10.46}, {'connected_gene': 'GC01M209934', 'score': 0.18}]
chr1 GH01I209822 209822523 209829001 2.48 [{'connected_gene': 'DIEXF', 'score': 566.01}, {'connected_gene': 'IRF6', 'score': 21.07}, {'connected_gene': 'SYT14', 'score': 14.57}, {'connected_gene': 'C1orf74', 'score': 11.45}, {'connected_gene': 'LOC101930114', 'score': 10.39}, {'connected_gene': 'TRAF3IP3', 'score': 10.25}]
chr1 GH01I209798 209798996 209799105 0.2 [{'connected_gene': 'DIEXF', 'score': 10.86}, {'connected_gene': 'IRF6', 'score': 0.44}, {'connected_gene': 'C1orf74', 'score': 0.39}]
chr1 GH01I209777 209777264 209778973 0.31 [{'connected_gene': 'DIEXF', 'score': 16.55}, {'connected_gene': 'LOC101930114', 'score': 10.72}, {'connected_gene': 'TRAF3IP3', 'score': 10.08}, {'connected_gene': 'HSD11B1', 'score': 9.73}, {'connected_gene': 'IRF6', 'score': 6.19}, {'connected_gene': 'C1orf74', 'score': 0.44}]
chr1 GH01I209862 209862696 209862885 0.4 [{'connected_gene': 'DIEXF', 'score': 11.07}, {'connected_gene': 'GC01M209934', 'score': 0.18}]
chr1 GH01I209850 209850516 209850665 0.97 [{'connected_gene': 'DIEXF', 'score': 11.25}, {'connected_gene': 'GC01M209934', 'score': 0.17}]
chr1 GH01I209860 209860697 209862048 0.56 [{'connected_gene': 'DIEXF', 'score': 11.07}, {'connected_gene': 'GC01M209934', 'score': 0.18}]
chr1 GH01I209869 209869371 209876305 1.1 [{'connected_gene': 'SYT14', 'score': 35.08}, {'connected_gene': 'TRAF3IP3', 'score': 12.85}, {'connected_gene': 'IRF6', 'score': 9.49}, {'connected_gene': 'DIEXF', 'score': 0.26}, {'connected_gene': 'GC01M209934', 'score': 0.2}]
chr1 GH01I209879 209879331 209880554 0.84 [{'connected_gene': 'SYT14', 'score': 34.33}, {'connected_gene': 'TRAF3IP3', 'score': 10.0}, {'connected_gene': 'DIEXF', 'score': 0.23}, {'connected_gene': 'GC01M209934', 'score': 0.22}]
chr1 GH01I209876 209876597 209877921 0.57 [{'connected_gene': 'SYT14', 'score': 32.8}, {'connected_gene': 'TRAF3IP3', 'score': 9.37}, {'connected_gene': 'DIEXF', 'score': 0.25}, {'connected_gene': 'GC01M209934', 'score': 0.21}]
chr1 GH01I209863 209863203 209865056 0.54 [{'connected_gene': 'SYT14', 'score': 15.76}, {'connected_gene': 'IRF6', 'score': 11.27}, {'connected_gene': 'DIEXF', 'score': 11.05}, {'connected_gene': 'GC01M209934', 'score': 0.19}]
chr1 GH01I209899 209899657 209902636 0.74 [{'connected_gene': 'SYT14', 'score': 11.3}, {'connected_gene': 'IRF6', 'score': 7.18}, {'connected_gene': 'GC01M209934', 'score': 0.28}, {'connected_gene': 'DIEXF', 'score': 0.19}]
chr1 GH01I209882 209882085 209886500 1.66 [{'connected_gene': 'SYT14', 'score': 34.45}, {'connected_gene': 'DIEXF', 'score': 12.26}, {'connected_gene': 'IRF6', 'score': 6.69}, {'connected_gene': 'TRAF3IP3', 'score': 4.47}, {'connected_gene': 'LAMB3', 'score': 2.3}, {'connected_gene': 'GC01M209934', 'score': 0.23}]
chr1 GH01I209889 209889987 209893008 0.66 [{'connected_gene': 'SYT14', 'score': 22.18}, {'connected_gene': 'GC01M209934', 'score': 0.25}, {'connected_gene': 'DIEXF', 'score': 0.21}]
chr1 GH01I209893 209893371 209897587 0.69 [{'connected_gene': 'SYT14', 'score': 22.35}, {'connected_gene': 'DIEXF', 'score': 5.95}, {'connected_gene': 'GC01M209934', 'score': 0.26}]
chr1 GH01I210371 210371982 210375342 1.28 [{'connected_gene': 'RNU5A-8P', 'score': 550.77}, {'connected_gene': 'GC01M210375', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 39.77}, {'connected_gene': 'SERTAD4-AS1', 'score': 14.9}, {'connected_gene': 'SERTAD4', 'score': 13.77}, {'connected_gene': 'ST13P19', 'score': 11.49}, {'connected_gene': 'DIEXF', 'score': 11.07}, {'connected_gene': 'HHAT', 'score': 4.4}, {'connected_gene': 'PIR50724', 'score': 0.44}]
chr1 GH01I209688 209688276 209689820 0.94 [{'connected_gene': 'ENSG00000224260', 'score': 11.08}, {'connected_gene': 'LOC101930114', 'score': 10.7}, {'connected_gene': 'CAMK1G', 'score': 10.35}, {'connected_gene': 'DIEXF', 'score': 5.22}, {'connected_gene': 'HSD11B1', 'score': 0.77}, {'connected_gene': 'ADORA2BP1', 'score': 0.22}]