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
ENST00000374293 [[114423614, 114423995], [114429094, 114429226], [114431548, 114432526]] [[114423914, 114423995], [114429094, 114429220]]
NM_001198664 [[114423850, 114423995], [114429094, 114429226], [114431551, 114432526]] [[114423914, 114423995], [114429094, 114429220]]
NM_001017998 [[114423850, 114423995], [114429094, 114429226], [114431548, 114432526]] [[114423914, 114423995], [114429094, 114429220]]
Promoter
Chrom Start End Description
chr9 114423619 114423661 CAGE_peak_2_at_GNG10_5end
chr9 114423666 114423682 CAGE_peak_3_at_GNG10_5end
chr9 114423841 114423900 CAGE_peak_1_at_GNG10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I111923 111923908 111930976 1.21 [{'connected_gene': 'UGCG', 'score': 17.95}, {'connected_gene': 'GNG10', 'score': 7.19}, {'connected_gene': 'MIR4668', 'score': 0.77}]
chr9 GH09I111895 111895081 111905616 2.48 [{'connected_gene': 'UGCG', 'score': 550.77}, {'connected_gene': 'RNU6-1013P', 'score': 11.05}, {'connected_gene': 'GNG10', 'score': 6.87}, {'connected_gene': 'ENSG00000224067', 'score': 4.92}, {'connected_gene': 'C9orf84', 'score': 4.87}, {'connected_gene': 'PTGR1', 'score': 4.74}, {'connected_gene': 'MIR4668', 'score': 0.29}]
chr9 GH09I111942 111942522 111946384 1.09 [{'connected_gene': 'UGCG', 'score': 12.12}, {'connected_gene': 'RNU6-710P', 'score': 10.94}, {'connected_gene': 'RNU6-1013P', 'score': 10.79}, {'connected_gene': 'GNG10', 'score': 6.45}, {'connected_gene': 'DNAJC25', 'score': 4.84}, {'connected_gene': 'MIR4668', 'score': 0.39}]
chr9 GH09I111630 111630369 111632851 2.1 [{'connected_gene': 'LRRC37A5P', 'score': 565.8}, {'connected_gene': 'DNAJC25', 'score': 559.92}, {'connected_gene': 'DNAJC25-GNG10', 'score': 550.77}, {'connected_gene': 'GNG10', 'score': 0.31}]
chr9 GH09I111919 111919745 111920174 0.52 [{'connected_gene': 'RPL32P22', 'score': 9.83}, {'connected_gene': 'GNG10', 'score': 5.67}, {'connected_gene': 'MIR4668', 'score': 0.39}, {'connected_gene': 'UGCG', 'score': 0.34}]
chr9 GH09I111940 111940744 111941550 0.78 [{'connected_gene': 'RPL32P22', 'score': 11.17}, {'connected_gene': 'RNU6-710P', 'score': 10.93}, {'connected_gene': 'GNG10', 'score': 8.55}, {'connected_gene': 'C9orf84', 'score': 5.48}, {'connected_gene': 'MIR4668', 'score': 0.44}]
chr9 GH09I111876 111876788 111877218 0.2 [{'connected_gene': 'GNG10', 'score': 7.46}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'RNU6-1013P', 'score': 0.28}]
chr9 GH09I111656 111656753 111658615 0.43 [{'connected_gene': 'GNG10', 'score': 16.65}, {'connected_gene': 'LRRC37A5P', 'score': 11.18}, {'connected_gene': 'DNAJC25-GNG10', 'score': 0.31}, {'connected_gene': 'DNAJC25', 'score': 0.31}]
chr9 GH09I112057 112057836 112063827 1.72 [{'connected_gene': 'GNG10', 'score': 3.84}, {'connected_gene': 'SUSD1', 'score': 2.34}, {'connected_gene': 'ENSG00000259953', 'score': 0.34}, {'connected_gene': 'RNU6-855P', 'score': 0.18}]
chr9 GH09I111648 111648121 111648270 0.2 [{'connected_gene': 'GNG10', 'score': 0.39}, {'connected_gene': 'DNAJC25-GNG10', 'score': 0.37}, {'connected_gene': 'DNAJC25', 'score': 0.37}]
chr9 GH09I111660 111660981 111663819 1.91 [{'connected_gene': 'GNG10', 'score': 574.9}, {'connected_gene': 'GC09P111683', 'score': 0.37}, {'connected_gene': 'DNAJC25-GNG10', 'score': 0.29}]
chr9 GH09I111804 111804563 111807657 0.88 [{'connected_gene': 'GNG10', 'score': 24.64}, {'connected_gene': 'C9orf84', 'score': 14.23}, {'connected_gene': 'RNU6-1013P', 'score': 11.69}, {'connected_gene': 'ENSG00000224067', 'score': 0.77}, {'connected_gene': 'GC09P111818', 'score': 0.39}]
chr9 GH09I111700 111700193 111701393 0.46 [{'connected_gene': 'GNG10', 'score': 19.8}, {'connected_gene': 'C9orf84', 'score': 12.22}, {'connected_gene': 'GC09P111683', 'score': 0.37}]
chr9 GH09I111730 111730950 111731475 0.66 [{'connected_gene': 'GNG10', 'score': 11.03}, {'connected_gene': 'GC09P111683', 'score': 0.25}, {'connected_gene': 'C9orf84', 'score': 0.21}]
chr9 GH09I111727 111727291 111729927 0.77 [{'connected_gene': 'GNG10', 'score': 26.28}, {'connected_gene': 'C9orf84', 'score': 11.55}, {'connected_gene': 'GC09P111683', 'score': 0.25}]
chr9 GH09I111866 111866887 111867816 1.15 [{'connected_gene': 'GNG10', 'score': 4.06}, {'connected_gene': 'RNU6-1013P', 'score': 0.31}, {'connected_gene': 'UGCG', 'score': 0.31}]
chr9 GH09I111921 111921831 111923505 0.46 [{'connected_gene': 'GNG10', 'score': 5.84}, {'connected_gene': 'MIR4668', 'score': 0.44}, {'connected_gene': 'UGCG', 'score': 0.31}]
chr9 GH09I111830 111830929 111832502 0.4 [{'connected_gene': 'GNG10', 'score': 10.49}, {'connected_gene': 'GC09M111837', 'score': 0.44}, {'connected_gene': 'GC09P111818', 'score': 0.39}]
chr9 GH09I111597 111597767 111600402 1.88 [{'connected_gene': 'PTGR1', 'score': 566.3}, {'connected_gene': 'GNG10', 'score': 16.06}, {'connected_gene': 'LRRC37A5P', 'score': 6.67}, {'connected_gene': 'ZNF483', 'score': 5.82}, {'connected_gene': 'ENSG00000224644', 'score': 0.34}]
chr9 GH09I111602 111602790 111605978 0.67 [{'connected_gene': 'PTGR1', 'score': 17.32}, {'connected_gene': 'GNG10', 'score': 10.95}, {'connected_gene': 'ENSG00000224644', 'score': 10.91}, {'connected_gene': 'ECPAS', 'score': 10.31}, {'connected_gene': 'PIR33411', 'score': 0.77}, {'connected_gene': 'LRRC37A5P', 'score': 0.31}]
chr9 GH09I111600 111600888 111602001 1.25 [{'connected_gene': 'PTGR1', 'score': 560.65}, {'connected_gene': 'GNG10', 'score': 13.09}, {'connected_gene': 'ZNF483', 'score': 5.81}, {'connected_gene': 'ECPAS', 'score': 2.1}, {'connected_gene': 'PIR33411', 'score': 0.44}]
chr9 GH09I111851 111851048 111852425 1.18 [{'connected_gene': 'PTGR1', 'score': 4.59}, {'connected_gene': 'GNG10', 'score': 4.23}, {'connected_gene': 'RNU6-1013P', 'score': 0.39}, {'connected_gene': 'UGCG', 'score': 0.25}]
chr9 GH09I111232 111232961 111234594 0.43 [{'connected_gene': 'PTGR1', 'score': 7.28}, {'connected_gene': 'LPAR1', 'score': 6.62}, {'connected_gene': 'ZNF483', 'score': 4.72}, {'connected_gene': 'GNG10', 'score': 4.61}, {'connected_gene': 'MIR7702', 'score': 0.28}, {'connected_gene': 'LOC105376219', 'score': 0.23}, {'connected_gene': 'ENSG00000227531', 'score': 0.23}, {'connected_gene': 'RNY4P18', 'score': 0.12}, {'connected_gene': 'GC09M111098', 'score': 0.12}]
chr9 GH09I111794 111794561 111795510 0.59 [{'connected_gene': 'C9orf84', 'score': 550.77}, {'connected_gene': 'GNG10', 'score': 24.46}, {'connected_gene': 'PTBP3', 'score': 10.0}, {'connected_gene': 'ENSG00000224067', 'score': 0.44}]
chr9 GH09I111742 111742083 111745220 1.17 [{'connected_gene': 'C9orf84', 'score': 11.61}, {'connected_gene': 'GNG10', 'score': 11.03}, {'connected_gene': 'GC09P111683', 'score': 0.21}]
chr9 GH09I111759 111759608 111760800 0.95 [{'connected_gene': 'C9orf84', 'score': 23.07}, {'connected_gene': 'ENSG00000224067', 'score': 11.46}, {'connected_gene': 'GNG10', 'score': 10.85}, {'connected_gene': 'GC09P111683', 'score': 0.18}]
chr9 GH09I111854 111854504 111855948 0.31 [{'connected_gene': 'C9orf84', 'score': 7.38}, {'connected_gene': 'PTGR1', 'score': 5.97}, {'connected_gene': 'GNG10', 'score': 4.96}, {'connected_gene': 'RNU6-1013P', 'score': 0.37}, {'connected_gene': 'UGCG', 'score': 0.26}]
chr9 GH09I112072 112072180 112076211 1.65 [{'connected_gene': 'C9orf84', 'score': 11.01}, {'connected_gene': 'ENSG00000224067', 'score': 11.01}, {'connected_gene': 'RNU6-1013P', 'score': 10.88}, {'connected_gene': 'SUSD1', 'score': 5.25}, {'connected_gene': 'UGCG', 'score': 3.98}, {'connected_gene': 'GNG10', 'score': 1.69}, {'connected_gene': 'PTGR1', 'score': 1.61}, {'connected_gene': 'ENSG00000259953', 'score': 0.28}, {'connected_gene': 'RNU6-855P', 'score': 0.21}]
chr9 GH09I112068 112068522 112071400 1.55 [{'connected_gene': 'RNU6-1013P', 'score': 10.88}, {'connected_gene': 'UGCG', 'score': 5.79}, {'connected_gene': 'GNG10', 'score': 3.7}, {'connected_gene': 'SUSD1', 'score': 2.36}, {'connected_gene': 'ENSG00000259953', 'score': 0.29}, {'connected_gene': 'RNU6-855P', 'score': 0.2}]
chr9 GH09I111910 111910607 111911871 0.68 [{'connected_gene': 'RNU6-1013P', 'score': 10.66}, {'connected_gene': 'GNG10', 'score': 5.46}, {'connected_gene': 'UGCG', 'score': 0.39}, {'connected_gene': 'MIR4668', 'score': 0.34}]
chr9 GH09I111914 111914113 111917990 1.2 [{'connected_gene': 'RNU6-1013P', 'score': 10.65}, {'connected_gene': 'GNG10', 'score': 7.42}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'MIR4668', 'score': 0.37}]
chr9 GH09I111935 111935461 111936867 0.31 [{'connected_gene': 'RNU6-1013P', 'score': 10.62}, {'connected_gene': 'GNG10', 'score': 8.08}, {'connected_gene': 'MIR4668', 'score': 0.77}, {'connected_gene': 'RNU6-710P', 'score': 0.21}]
chr9 GH09I111815 111815021 111816050 0.31 [{'connected_gene': 'RNU6-1013P', 'score': 12.78}, {'connected_gene': 'GNG10', 'score': 9.95}, {'connected_gene': 'GC09P111818', 'score': 0.77}, {'connected_gene': 'ENSG00000224067', 'score': 0.39}]
chr9 GH09I111957 111957323 111963168 1.75 [{'connected_gene': 'RNU6-710P', 'score': 11.31}, {'connected_gene': 'ENSG00000224067', 'score': 10.85}, {'connected_gene': 'C9orf84', 'score': 10.85}, {'connected_gene': 'RNU6-1013P', 'score': 10.82}, {'connected_gene': 'GNG10', 'score': 7.07}, {'connected_gene': 'UGCG', 'score': 3.38}, {'connected_gene': 'MIR4668', 'score': 0.31}]
chr9 GH09I111963 111963767 111967545 1.3 [{'connected_gene': 'RNU6-710P', 'score': 11.33}, {'connected_gene': 'ENSG00000224067', 'score': 10.84}, {'connected_gene': 'C9orf84', 'score': 10.84}, {'connected_gene': 'RNU6-1013P', 'score': 10.25}, {'connected_gene': 'GNG10', 'score': 6.2}, {'connected_gene': 'MIR4668', 'score': 0.29}]
chr9 GH09I111937 111937002 111939579 1.42 [{'connected_gene': 'RNU6-710P', 'score': 11.8}, {'connected_gene': 'RNU6-1013P', 'score': 10.62}, {'connected_gene': 'GNG10', 'score': 8.62}, {'connected_gene': 'KIAA1958', 'score': 5.3}, {'connected_gene': 'C9orf84', 'score': 4.64}, {'connected_gene': 'PTBP3', 'score': 2.26}, {'connected_gene': 'SUSD1', 'score': 1.64}, {'connected_gene': 'DNAJC25', 'score': 1.3}, {'connected_gene': 'HSDL2', 'score': 1.18}, {'connected_gene': 'MIR4668', 'score': 0.44}]
chr9 GH09I111888 111888645 111893314 1.3 [{'connected_gene': 'RNU6-710P', 'score': 11.68}, {'connected_gene': 'RNU6-1013P', 'score': 11.42}, {'connected_gene': 'GNG10', 'score': 8.61}, {'connected_gene': 'C9orf84', 'score': 5.09}, {'connected_gene': 'PTGR1', 'score': 4.39}, {'connected_gene': 'UGCG', 'score': 0.44}]
chr9 GH09I111955 111955078 111956193 0.49 [{'connected_gene': 'RNU6-710P', 'score': 10.93}, {'connected_gene': 'RNU6-1013P', 'score': 10.83}, {'connected_gene': 'GNG10', 'score': 6.97}, {'connected_gene': 'MIR4668', 'score': 0.34}]
chr9 GH09I112045 112045269 112048200 1.3 [{'connected_gene': 'ENSG00000259953', 'score': 7.09}, {'connected_gene': 'GNG10', 'score': 2.24}, {'connected_gene': 'UGCG', 'score': 2.14}, {'connected_gene': 'PTGR1', 'score': 1.33}, {'connected_gene': 'RNU6-855P', 'score': 0.16}, {'connected_gene': 'SUSD1', 'score': 0.13}]
chr9 GH09I111877 111877971 111878553 0.2 [{'connected_gene': 'ENSG00000224067', 'score': 6.15}, {'connected_gene': 'GNG10', 'score': 5.13}, {'connected_gene': 'UGCG', 'score': 0.37}, {'connected_gene': 'RNU6-1013P', 'score': 0.28}]
chr9 GH09I111457 111457841 111459130 0.49 [{'connected_gene': 'ECPAS', 'score': 12.58}, {'connected_gene': 'GNG10', 'score': 10.14}, {'connected_gene': 'ENSG00000224644', 'score': 9.88}, {'connected_gene': 'ZNF483', 'score': 6.68}, {'connected_gene': 'RNA5SP294', 'score': 0.25}]
chr9 GH09I111838 111838981 111840399 1.15 [{'connected_gene': 'GC09M111837', 'score': 550.77}, {'connected_gene': 'RNU6-1013P', 'score': 550.77}, {'connected_gene': 'GC09P111840', 'score': 550.77}, {'connected_gene': 'GNG10', 'score': 5.53}]