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
ENST00000514165 [[76114757, 76114826], [76128514, 76129052]] [[76128714, 76129052]]
ENST00000296677 [[76114801, 76115089], [76128514, 76131140]] [[76115007, 76115089], [76128514, 76129626]]
NM_005242 [[76114801, 76115089], [76128514, 76131140]] [[76115007, 76115089], [76128514, 76129626]]
Promoter
Chrom Start End Description
chr5 76114796 76114838 CAGE_peak_3_at_F2RL1_5end
chr5 76114847 76114867 CAGE_peak_1_at_F2RL1_5end
chr5 76114872 76114892 CAGE_peak_2_at_F2RL1_5end
chr5 76114932 76114943 CAGE_peak_4_at_F2RL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I076778 76778996 76779145 0.81 [{'connected_gene': 'RPL7P23', 'score': 35.16}, {'connected_gene': 'AGGF1', 'score': 21.57}, {'connected_gene': 'GC05P076755', 'score': 0.34}, {'connected_gene': 'F2RL1', 'score': 0.28}]
chr5 GH05I076779 76779348 76780053 0.99 [{'connected_gene': 'RPL7P23', 'score': 35.16}, {'connected_gene': 'F2RL1', 'score': 23.92}, {'connected_gene': 'AGGF1', 'score': 21.57}, {'connected_gene': 'GC05P076755', 'score': 0.34}]
chr5 GH05I076830 76830588 76832112 1.1 [{'connected_gene': 'F2RL1', 'score': 39.77}, {'connected_gene': 'ALDH7A1P1', 'score': 16.15}, {'connected_gene': 'ENSG00000225407', 'score': 11.11}, {'connected_gene': 'F2R', 'score': 11.11}, {'connected_gene': 'RNU6ATAC36P', 'score': 10.99}, {'connected_gene': 'CRHBP', 'score': 10.99}, {'connected_gene': 'RN7SL208P', 'score': 0.44}, {'connected_gene': 'GC05P076819', 'score': 0.39}, {'connected_gene': 'GC05P076820', 'score': 0.39}, {'connected_gene': 'GC05P076755', 'score': 0.18}]
chr5 GH05I076804 76804007 76809780 1.65 [{'connected_gene': 'F2RL1', 'score': 42.01}, {'connected_gene': 'ENSG00000225407', 'score': 10.83}, {'connected_gene': 'F2R', 'score': 10.83}, {'connected_gene': 'CRHBP', 'score': 10.11}, {'connected_gene': 'ENSG00000250615', 'score': 9.34}, {'connected_gene': 'GC05P076755', 'score': 0.23}]
chr5 GH05I076793 76793414 76793963 0.2 [{'connected_gene': 'F2RL1', 'score': 15.41}, {'connected_gene': 'ENSG00000225407', 'score': 11.06}, {'connected_gene': 'F2R', 'score': 11.06}, {'connected_gene': 'CRHBP', 'score': 10.67}, {'connected_gene': 'GC05P076755', 'score': 0.28}]
chr5 GH05I076794 76794441 76795402 0.89 [{'connected_gene': 'F2RL1', 'score': 15.87}, {'connected_gene': 'ENSG00000225407', 'score': 11.06}, {'connected_gene': 'F2R', 'score': 11.06}, {'connected_gene': 'CRHBP', 'score': 10.67}, {'connected_gene': 'GC05P076755', 'score': 0.28}]
chr5 GH05I076810 76810566 76811574 0.8 [{'connected_gene': 'F2RL1', 'score': 40.17}, {'connected_gene': 'ENSG00000225407', 'score': 10.71}, {'connected_gene': 'F2R', 'score': 10.7}, {'connected_gene': 'CRHBP', 'score': 10.1}, {'connected_gene': 'GC05P076755', 'score': 0.22}]
chr5 GH05I076786 76786872 76792622 1.65 [{'connected_gene': 'F2RL1', 'score': 28.15}, {'connected_gene': 'F2R', 'score': 22.98}, {'connected_gene': 'ENSG00000225407', 'score': 11.07}, {'connected_gene': 'CRHBP', 'score': 10.66}, {'connected_gene': 'GC05P076755', 'score': 0.29}]
chr5 GH05I076818 76818175 76823728 2.16 [{'connected_gene': 'F2RL1', 'score': 591.34}, {'connected_gene': 'GC05P076819', 'score': 550.77}, {'connected_gene': 'GC05P076820', 'score': 550.77}, {'connected_gene': 'F2R', 'score': 20.28}, {'connected_gene': 'ENSG00000225407', 'score': 11.21}, {'connected_gene': 'RN7SL208P', 'score': 0.37}, {'connected_gene': 'GC05P076755', 'score': 0.2}]
chr5 GH05I076800 76800812 76802001 0.83 [{'connected_gene': 'F2RL1', 'score': 36.72}, {'connected_gene': 'ENSG00000225407', 'score': 11.06}, {'connected_gene': 'F2R', 'score': 11.06}, {'connected_gene': 'LOC101929109', 'score': 10.29}, {'connected_gene': 'IQGAP2', 'score': 10.26}, {'connected_gene': 'ENSG00000250615', 'score': 9.34}, {'connected_gene': 'GC05P076755', 'score': 0.25}]
chr5 GH05I076813 76813691 76817359 1.19 [{'connected_gene': 'F2RL1', 'score': 40.41}, {'connected_gene': 'ENSG00000225407', 'score': 10.69}, {'connected_gene': 'F2R', 'score': 10.69}, {'connected_gene': 'GC05P076755', 'score': 0.22}]
chr5 GH05I076853 76853601 76857915 1.11 [{'connected_gene': 'F2RL1', 'score': 10.11}, {'connected_gene': 'S100Z', 'score': 0.44}, {'connected_gene': 'PIR54977', 'score': 0.28}, {'connected_gene': 'GC05P076755', 'score': 0.15}]
chr5 GH05I076781 76781968 76783677 0.38 [{'connected_gene': 'F2RL1', 'score': 26.1}, {'connected_gene': 'GC05P076755', 'score': 0.31}]
chr5 GH05I076785 76785025 76786491 1.22 [{'connected_gene': 'F2RL1', 'score': 18.18}, {'connected_gene': 'GC05P076755', 'score': 0.31}]
chr5 GH05I076714 76714969 76719355 2.11 [{'connected_gene': 'F2R', 'score': 567.59}, {'connected_gene': 'ENSG00000225407', 'score': 550.77}, {'connected_gene': 'F2RL1', 'score': 11.3}, {'connected_gene': 'AGGF1', 'score': 11.15}, {'connected_gene': 'POC5', 'score': 10.87}, {'connected_gene': 'RPL7P23', 'score': 9.68}, {'connected_gene': 'GC05P076755', 'score': 0.28}]
chr5 GH05I076731 76731811 76733827 0.82 [{'connected_gene': 'F2R', 'score': 15.24}, {'connected_gene': 'F2RL1', 'score': 10.44}, {'connected_gene': 'ENSG00000225407', 'score': 0.37}, {'connected_gene': 'GC05P076755', 'score': 0.34}]
chr5 GH05I076763 76762807 76763965 0.54 [{'connected_gene': 'F2R', 'score': 19.67}, {'connected_gene': 'GC05P076755', 'score': 0.44}, {'connected_gene': 'F2RL1', 'score': 0.22}]
chr5 GH05I076765 76765130 76766214 0.38 [{'connected_gene': 'F2R', 'score': 19.24}, {'connected_gene': 'F2RL1', 'score': 9.28}, {'connected_gene': 'GC05P076755', 'score': 0.44}]
chr5 GH05I076762 76762616 76762765 0.56 [{'connected_gene': 'F2R', 'score': 7.71}, {'connected_gene': 'GC05P076755', 'score': 0.44}, {'connected_gene': 'F2RL1', 'score': 0.22}]
chr5 GH05I076687 76687587 76693813 1.16 [{'connected_gene': 'F2R', 'score': 18.63}, {'connected_gene': 'ENSG00000225407', 'score': 11.63}, {'connected_gene': 'LOC101929109', 'score': 10.51}, {'connected_gene': 'IQGAP2', 'score': 10.39}, {'connected_gene': 'RNU6ATAC36P', 'score': 9.85}, {'connected_gene': 'CRHBP', 'score': 9.85}, {'connected_gene': 'F2RL1', 'score': 6.72}, {'connected_gene': 'ENSG00000277188', 'score': 0.34}, {'connected_gene': 'F2RL2', 'score': 0.2}]
chr5 GH05I076849 76849351 76853479 2.11 [{'connected_gene': 'S100Z', 'score': 553.87}, {'connected_gene': 'F2RL1', 'score': 10.57}, {'connected_gene': 'IQGAP2', 'score': 1.78}, {'connected_gene': 'PIR54977', 'score': 0.26}, {'connected_gene': 'GC05P076755', 'score': 0.15}]
chr5 GH05I076836 76836637 76840936 1.15 [{'connected_gene': 'RN7SL208P', 'score': 550.77}, {'connected_gene': 'F2RL1', 'score': 39.93}, {'connected_gene': 'F2R', 'score': 17.25}, {'connected_gene': 'ENSG00000225407', 'score': 11.11}, {'connected_gene': 'CRHBP', 'score': 11.0}, {'connected_gene': 'RNU6ATAC36P', 'score': 11.0}, {'connected_gene': 'S100Z', 'score': 0.39}, {'connected_gene': 'GC05P076755', 'score': 0.18}]
chr5 GH05I076703 76703180 76705902 0.38 [{'connected_gene': 'LOC101929109', 'score': 10.9}, {'connected_gene': 'IQGAP2', 'score': 10.8}, {'connected_gene': 'F2RL2', 'score': 10.16}, {'connected_gene': 'F2RL1', 'score': 6.98}, {'connected_gene': 'ENSG00000225407', 'score': 5.58}, {'connected_gene': 'F2R', 'score': 4.82}, {'connected_gene': 'ENSG00000277188', 'score': 0.44}]
chr5 GH05I076695 76695357 76697171 0.58 [{'connected_gene': 'LOC101929109', 'score': 10.5}, {'connected_gene': 'IQGAP2', 'score': 10.39}, {'connected_gene': 'ENSG00000225407', 'score': 6.11}, {'connected_gene': 'F2RL1', 'score': 5.91}, {'connected_gene': 'ENSG00000277188', 'score': 0.37}, {'connected_gene': 'F2RL2', 'score': 0.19}]
chr5 GH05I076774 76774401 76775000 1.06 [{'connected_gene': 'GC05P076755', 'score': 0.37}, {'connected_gene': 'F2RL1', 'score': 0.26}]
chr5 GH05I076825 76825816 76827339 0.49 [{'connected_gene': 'ENSG00000225407', 'score': 10.88}, {'connected_gene': 'F2R', 'score': 10.88}, {'connected_gene': 'F2RL1', 'score': 7.27}, {'connected_gene': 'GC05P076819', 'score': 0.44}, {'connected_gene': 'GC05P076820', 'score': 0.44}, {'connected_gene': 'RN7SL208P', 'score': 0.39}, {'connected_gene': 'GC05P076755', 'score': 0.19}]
chr5 GH05I076709 76709317 76712423 0.96 [{'connected_gene': 'ENSG00000277188', 'score': 550.77}, {'connected_gene': 'NCRUPAR', 'score': 550.77}, {'connected_gene': 'F2R', 'score': 12.68}, {'connected_gene': 'F2RL2', 'score': 9.85}, {'connected_gene': 'F2RL1', 'score': 9.33}, {'connected_gene': 'ENSG00000225407', 'score': 0.44}]