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
ENST00000262455 [[102741460, 102744995], [102747248, 102747351], [102768787, 102768929], [102769859, 102769971], [102778603, 102778720], [102780537, 102780595], [102782897, 102783013], [102784323, 102784508], [102814698, 102814814], [102820101, 102820141], [102822381, 102822454], [102861065, 102861322]] [[102744893, 102744995], [102747248, 102747351], [102768787, 102768929], [102769859, 102769971], [102778603, 102778720], [102780537, 102780595], [102782897, 102783013], [102784323, 102784508], [102814698, 102814814], [102820101, 102820141], [102822381, 102822454], [102861065, 102861122]]
NM_015051 [[102741460, 102744995], [102747248, 102747351], [102768787, 102768929], [102769859, 102769971], [102778603, 102778720], [102780537, 102780595], [102782897, 102783013], [102784323, 102784508], [102814698, 102814814], [102820101, 102820141], [102822381, 102822454], [102861065, 102861334]] [[102744893, 102744995], [102747248, 102747351], [102768787, 102768929], [102769859, 102769971], [102778603, 102778720], [102780537, 102780595], [102782897, 102783013], [102784323, 102784508], [102814698, 102814814], [102820101, 102820141], [102822381, 102822454], [102861065, 102861122]]
Promoter
Chrom Start End Description
chr9 102861267 102861307 CAGE_peak_1_at_ERP44_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I099748 99748308 99748687 0.32 [{'connected_gene': 'NR4A3', 'score': 6.42}, {'connected_gene': 'ERP44', 'score': 1.9}, {'connected_gene': 'GC09M099818', 'score': 0.19}, {'connected_gene': 'LOC101928438', 'score': 0.19}, {'connected_gene': 'ENSG00000234860', 'score': 0.08}]
chr9 GH09I099659 99659799 99660825 1.29 [{'connected_gene': 'NR4A3', 'score': 6.32}, {'connected_gene': 'ERP44', 'score': 1.43}, {'connected_gene': 'ENSG00000234860', 'score': 0.13}, {'connected_gene': 'GC09M099818', 'score': 0.1}, {'connected_gene': 'LOC101928438', 'score': 0.1}]
chr9 GH09I099628 99628978 99629159 0.44 [{'connected_gene': 'NR4A3', 'score': 4.52}, {'connected_gene': 'ERP44', 'score': 1.32}, {'connected_gene': 'ENSG00000234860', 'score': 0.15}, {'connected_gene': 'GC09M099818', 'score': 0.08}, {'connected_gene': 'LOC101928438', 'score': 0.08}]
chr9 GH09I099762 99762201 99763000 0.88 [{'connected_gene': 'NR4A3', 'score': 3.46}, {'connected_gene': 'ERP44', 'score': 1.96}, {'connected_gene': 'GC09M099818', 'score': 0.22}, {'connected_gene': 'LOC101928438', 'score': 0.22}, {'connected_gene': 'ENSG00000234860', 'score': 0.07}]
chr9 GH09I099750 99750630 99750837 0.22 [{'connected_gene': 'NR4A3', 'score': 2.45}, {'connected_gene': 'ERP44', 'score': 1.51}, {'connected_gene': 'GC09M099818', 'score': 0.2}, {'connected_gene': 'LOC101928438', 'score': 0.2}, {'connected_gene': 'ENSG00000234860', 'score': 0.08}]
chr9 GH09I099634 99634256 99634479 0.78 [{'connected_gene': 'NR4A3', 'score': 5.88}, {'connected_gene': 'ERP44', 'score': 1.45}, {'connected_gene': 'ENSG00000234860', 'score': 0.15}, {'connected_gene': 'GC09M099818', 'score': 0.09}, {'connected_gene': 'LOC101928438', 'score': 0.09}]
chr9 GH09I099629 99629281 99629621 0.41 [{'connected_gene': 'NR4A3', 'score': 5.7}, {'connected_gene': 'ERP44', 'score': 1.23}, {'connected_gene': 'ENSG00000234860', 'score': 0.15}, {'connected_gene': 'GC09M099818', 'score': 0.08}, {'connected_gene': 'LOC101928438', 'score': 0.08}]
chr9 GH09I099633 99633393 99633594 0.61 [{'connected_gene': 'NR4A3', 'score': 5.99}, {'connected_gene': 'ERP44', 'score': 1.76}, {'connected_gene': 'ENSG00000234860', 'score': 0.15}, {'connected_gene': 'GC09M099818', 'score': 0.09}, {'connected_gene': 'LOC101928438', 'score': 0.09}]
chr9 GH09I099683 99683026 99683248 0.29 [{'connected_gene': 'NR4A3', 'score': 6.18}, {'connected_gene': 'ERP44', 'score': 2.82}, {'connected_gene': 'GC09M099818', 'score': 0.12}, {'connected_gene': 'LOC101928438', 'score': 0.12}, {'connected_gene': 'ENSG00000234860', 'score': 0.1}]
chr9 GH09I099818 99818374 99825108 2.65 [{'connected_gene': 'NR4A3', 'score': 576.28}, {'connected_gene': 'GC09M099818', 'score': 550.77}, {'connected_gene': 'LOC101928438', 'score': 550.77}, {'connected_gene': 'MSANTD3', 'score': 10.27}, {'connected_gene': 'ERP44', 'score': 3.19}]
chr9 GH09I100082 100082444 100085718 1.04 [{'connected_gene': 'STX17', 'score': 17.57}, {'connected_gene': 'TEX10', 'score': 10.71}, {'connected_gene': 'INVS', 'score': 6.54}, {'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.2}]
chr9 GH09I100093 100093979 100094128 0.49 [{'connected_gene': 'STX17', 'score': 17.56}, {'connected_gene': 'ERP44', 'score': 0.77}, {'connected_gene': 'LOC105376176', 'score': 0.18}]
chr9 GH09I100088 100088319 100088468 0.67 [{'connected_gene': 'STX17', 'score': 17.8}, {'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.19}]
chr9 GH09I100028 100028219 100028388 0.75 [{'connected_gene': 'STX17', 'score': 17.09}, {'connected_gene': 'LOC105376176', 'score': 0.39}, {'connected_gene': 'ERP44', 'score': 0.19}]
chr9 GH09I100066 100066398 100067159 0.72 [{'connected_gene': 'INVS', 'score': 19.38}, {'connected_gene': 'STX17', 'score': 17.06}, {'connected_gene': 'ERP44', 'score': 11.94}, {'connected_gene': 'RN7SL75P', 'score': 11.92}, {'connected_gene': 'LOC105376176', 'score': 0.23}]
chr9 GH09I100213 100213379 100214434 0.63 [{'connected_gene': 'INVS', 'score': 17.93}, {'connected_gene': 'STX17', 'score': 16.5}, {'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9 GH09I100209 100209739 100210788 0.94 [{'connected_gene': 'INVS', 'score': 17.83}, {'connected_gene': 'STX17', 'score': 15.41}, {'connected_gene': 'RN7SL75P', 'score': 11.4}, {'connected_gene': 'ERP44', 'score': 11.4}, {'connected_gene': 'NR4A3', 'score': 10.33}, {'connected_gene': 'LOC101928438', 'score': 10.32}, {'connected_gene': 'MSANTD3', 'score': 9.82}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 9.81}, {'connected_gene': 'TMEFF1', 'score': 9.81}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.15}]
chr9 GH09I100211 100211266 100212839 0.2 [{'connected_gene': 'INVS', 'score': 17.93}, {'connected_gene': 'STX17', 'score': 16.26}, {'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9 GH09I100144 100144781 100146768 1.09 [{'connected_gene': 'INVS', 'score': 22.36}, {'connected_gene': 'STX17', 'score': 15.62}, {'connected_gene': 'RN7SL75P', 'score': 11.6}, {'connected_gene': 'ERP44', 'score': 11.58}, {'connected_gene': 'GC09P100140', 'score': 0.44}, {'connected_gene': 'NANOGP5', 'score': 0.31}]
chr9 GH09I100097 100097452 100100560 2.04 [{'connected_gene': 'INVS', 'score': 561.25}, {'connected_gene': 'ERP44', 'score': 550.77}, {'connected_gene': 'STX17', 'score': 17.37}, {'connected_gene': 'LOC105376176', 'score': 0.18}]
chr9 GH09I100064 100064395 100065994 0.46 [{'connected_gene': 'INVS', 'score': 18.75}, {'connected_gene': 'ERP44', 'score': 11.94}, {'connected_gene': 'RN7SL75P', 'score': 11.92}, {'connected_gene': 'LOC105376176', 'score': 0.25}]
chr9 GH09I099231 99231879 99232008 0.6 [{'connected_gene': 'INVS', 'score': 10.26}, {'connected_gene': 'ERP44', 'score': 10.26}, {'connected_gene': 'RN7SL75P', 'score': 10.26}, {'connected_gene': 'GC09M099229', 'score': 0.77}, {'connected_gene': 'GC09P099237', 'score': 0.44}]
chr9 GH09I100096 100096416 100096963 0.67 [{'connected_gene': 'ERP44', 'score': 0.77}, {'connected_gene': 'LOC105376176', 'score': 0.18}]
chr9 GH09I100087 100087892 100088144 0.54 [{'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.19}]
chr9 GH09I100089 100087279 100087448 0.66 [{'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.19}]
chr9 GH09I100131 100131359 100131448 0.2 [{'connected_gene': 'RN7SL75P', 'score': 12.55}, {'connected_gene': 'INVS', 'score': 12.53}, {'connected_gene': 'ERP44', 'score': 12.53}, {'connected_gene': 'GC09P100140', 'score': 0.44}, {'connected_gene': 'ENSG00000270995', 'score': 0.39}]
chr9 GH09I100216 100216279 100216468 0.62 [{'connected_gene': 'RN7SL75P', 'score': 11.49}, {'connected_gene': 'INVS', 'score': 11.48}, {'connected_gene': 'ERP44', 'score': 11.48}, {'connected_gene': 'GC09P100176', 'score': 0.26}, {'connected_gene': 'GC09P100306', 'score': 0.17}]
chr9 GH09I100214 100213217 100213311 0.2 [{'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'INVS', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]