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
ENST00000380739 [[2832565, 2834246], [2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840828], [2842045, 2842240]] [[2833841, 2834246], [2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840820]]
ENST00000537185 [[2833641, 2834246], [2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2839568, 2839700], [2840652, 2840828], [2842045, 2842094]] [[2833841, 2834246], [2836089, 2836257], [2836341, 2836455]]
ENST00000468511 [[2833745, 2833933], [2836341, 2836484], [2838115, 2838233]] None
ENST00000490094 [[2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840719], [2842045, 2842193]] None
ENST00000476896 [[2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840828], [2841449, 2841709], [2842045, 2842082]] None
ENST00000460260 [[2838782, 2838920], [2840652, 2840828], [2841830, 2842096]] None
NR_073111 [[2832565, 2834246], [2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2839568, 2839700], [2840652, 2840828], [2842045, 2842283]] None
NM_030666 [[2832565, 2834246], [2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840828], [2842045, 2842283]] [[2833841, 2834246], [2836089, 2836257], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840820]]
NR_073112 [[2832565, 2834246], [2836089, 2836253], [2836341, 2836484], [2838115, 2838233], [2838782, 2838920], [2840652, 2840828], [2842045, 2842283]] None
Promoter
Chrom Start End Description
chr6 2842087 2842105 CAGE_peak_1_at_SERPINB1_5end
chr6 2842201 2842210 CAGE_peak_3_at_SERPINB1_5end
chr6 2842219 2842246 CAGE_peak_2_at_SERPINB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I002822 2822289 2824840 0.69 [{'connected_gene': 'RIPK1', 'score': 17.18}, {'connected_gene': 'SERPINB1', 'score': 6.17}, {'connected_gene': 'MYLK4', 'score': 5.71}, {'connected_gene': 'GC06P002818', 'score': 0.44}]
chr6 GH06I003421 3421602 3425057 1.2 [{'connected_gene': 'SLC22A23', 'score': 12.71}, {'connected_gene': 'SERPINB1', 'score': 4.83}, {'connected_gene': 'GC06M003429', 'score': 0.44}, {'connected_gene': 'LOC105374890', 'score': 0.39}]
chr6 GH06I002845 2845716 2847431 1.38 [{'connected_gene': 'WRNIP1', 'score': 23.87}, {'connected_gene': 'SERPINB9', 'score': 18.62}, {'connected_gene': 'ENSG00000232999', 'score': 12.9}, {'connected_gene': 'LINC01011', 'score': 12.55}, {'connected_gene': 'NQO2', 'score': 12.55}, {'connected_gene': 'SERPINB6', 'score': 11.99}, {'connected_gene': 'MYLK4', 'score': 10.5}, {'connected_gene': 'SERPINB1', 'score': 10.06}, {'connected_gene': 'MIR4645', 'score': 0.44}]
chr6 GH06I002834 2834849 2836006 0.2 [{'connected_gene': 'SERPINB9', 'score': 11.47}, {'connected_gene': 'ENSG00000232999', 'score': 11.45}, {'connected_gene': 'WRNIP1', 'score': 11.3}, {'connected_gene': 'LINC01011', 'score': 10.69}, {'connected_gene': 'NQO2', 'score': 10.69}, {'connected_gene': 'SERPINB1', 'score': 5.05}, {'connected_gene': 'GC06P002818', 'score': 0.37}]
chr6 GH06I002828 2828768 2830857 0.56 [{'connected_gene': 'SERPINB9', 'score': 11.25}, {'connected_gene': 'ENSG00000232999', 'score': 11.24}, {'connected_gene': 'WRNIP1', 'score': 11.17}, {'connected_gene': 'MYLK4', 'score': 5.25}, {'connected_gene': 'SERPINB1', 'score': 0.39}, {'connected_gene': 'GC06P002818', 'score': 0.39}]
chr6 GH06I002830 2830892 2832201 0.38 [{'connected_gene': 'SERPINB9', 'score': 11.25}, {'connected_gene': 'ENSG00000232999', 'score': 11.24}, {'connected_gene': 'WRNIP1', 'score': 11.16}, {'connected_gene': 'SERPINB1', 'score': 0.39}, {'connected_gene': 'GC06P002818', 'score': 0.39}]
chr6 GH06I002927 2927949 2932936 1.69 [{'connected_gene': 'SERPINB9', 'score': 36.76}, {'connected_gene': 'SERPINB6', 'score': 12.11}, {'connected_gene': 'LINC01011', 'score': 11.84}, {'connected_gene': 'NQO2', 'score': 11.84}, {'connected_gene': 'WRNIP1', 'score': 10.62}, {'connected_gene': 'SERPINB1', 'score': 9.27}, {'connected_gene': 'ENSG00000272277', 'score': 5.67}, {'connected_gene': 'RIPK1', 'score': 1.64}, {'connected_gene': 'LOC105374887', 'score': 0.44}, {'connected_gene': 'ENSG00000228365', 'score': 0.39}, {'connected_gene': 'GC06M002906', 'score': 0.39}]
chr6 GH06I002795 2795201 2798199 1.33 [{'connected_gene': 'SERPINB9', 'score': 23.39}, {'connected_gene': 'NQO2', 'score': 12.89}, {'connected_gene': 'ENSG00000232999', 'score': 12.27}, {'connected_gene': 'LINC01011', 'score': 10.81}, {'connected_gene': 'SERPINB1', 'score': 8.11}, {'connected_gene': 'RIPK1', 'score': 5.39}, {'connected_gene': 'MYLK4', 'score': 5.22}, {'connected_gene': 'GC06P002811', 'score': 0.39}]
chr6 GH06I002925 2925548 2927571 1.28 [{'connected_gene': 'SERPINB9', 'score': 18.71}, {'connected_gene': 'LINC01011', 'score': 11.83}, {'connected_gene': 'NQO2', 'score': 11.83}, {'connected_gene': 'SERPINB6', 'score': 11.81}, {'connected_gene': 'WRNIP1', 'score': 10.61}, {'connected_gene': 'SERPINB1', 'score': 6.07}, {'connected_gene': 'ENSG00000228365', 'score': 0.44}, {'connected_gene': 'LOC105374887', 'score': 0.39}, {'connected_gene': 'GC06M002906', 'score': 0.37}]
chr6 GH06I002897 2897633 2903916 2.7 [{'connected_gene': 'SERPINB9', 'score': 575.61}, {'connected_gene': 'LINC01011', 'score': 10.87}, {'connected_gene': 'NQO2', 'score': 10.87}, {'connected_gene': 'SERPINB1', 'score': 3.83}, {'connected_gene': 'RIPK1', 'score': 1.46}, {'connected_gene': 'LOC101927730', 'score': 0.37}]
chr6 GH06I002852 2852179 2860139 2.13 [{'connected_gene': 'SERPINB9', 'score': 38.39}, {'connected_gene': 'PSMG4', 'score': 12.12}, {'connected_gene': 'SERPINB1', 'score': 11.09}, {'connected_gene': 'SERPINB9P1', 'score': 8.79}, {'connected_gene': 'HTATSF1P2', 'score': 6.09}, {'connected_gene': 'RIPK1', 'score': 3.19}, {'connected_gene': 'NQO2', 'score': 1.75}, {'connected_gene': 'MIR4645', 'score': 0.77}, {'connected_gene': 'PIR43328', 'score': 0.77}]
chr6 GH06I002825 2825471 2826833 0.31 [{'connected_gene': 'SERPINB9', 'score': 11.44}, {'connected_gene': 'ENSG00000232999', 'score': 11.43}, {'connected_gene': 'MYLK4', 'score': 11.1}, {'connected_gene': 'GC06P002818', 'score': 0.44}, {'connected_gene': 'SERPINB1', 'score': 0.37}]
chr6 GH06I002886 2886201 2886717 1.21 [{'connected_gene': 'SERPINB9', 'score': 40.16}, {'connected_gene': 'ENSG00000232999', 'score': 13.28}, {'connected_gene': 'SERPINB9P1', 'score': 12.99}, {'connected_gene': 'NQO2', 'score': 12.66}, {'connected_gene': 'SERPINB6', 'score': 11.77}, {'connected_gene': 'LINC01011', 'score': 11.43}, {'connected_gene': 'SERPINB1', 'score': 6.52}, {'connected_gene': 'RIPK1', 'score': 1.85}, {'connected_gene': 'LOC101927730', 'score': 0.77}]
chr6 GH06I002872 2872397 2872964 1.11 [{'connected_gene': 'SERPINB9', 'score': 40.91}, {'connected_gene': 'ENSG00000232999', 'score': 13.45}, {'connected_gene': 'SERPINB9P1', 'score': 8.01}, {'connected_gene': 'SERPINB1', 'score': 7.43}, {'connected_gene': 'RIPK1', 'score': 2.39}, {'connected_gene': 'NQO2', 'score': 1.99}, {'connected_gene': 'PIR60730', 'score': 0.44}, {'connected_gene': 'PIR43328', 'score': 0.39}]
chr6 GH06I002861 2861002 2864256 1.59 [{'connected_gene': 'SERPINB9', 'score': 27.13}, {'connected_gene': 'SERPINB9P1', 'score': 16.42}, {'connected_gene': 'SERPINB1', 'score': 5.35}, {'connected_gene': 'NQO2', 'score': 1.62}, {'connected_gene': 'RIPK1', 'score': 1.59}, {'connected_gene': 'PIR43328', 'score': 0.77}, {'connected_gene': 'PIR60730', 'score': 0.37}]
chr6 GH06I002848 2848395 2852116 1.5 [{'connected_gene': 'SERPINB9', 'score': 20.79}, {'connected_gene': 'SERPINB1', 'score': 16.84}, {'connected_gene': 'NQO2', 'score': 15.48}, {'connected_gene': 'ENSG00000232999', 'score': 12.9}, {'connected_gene': 'LINC01011', 'score': 12.06}, {'connected_gene': 'SERPINB6', 'score': 11.99}, {'connected_gene': 'WRNIP1', 'score': 10.58}, {'connected_gene': 'SERPINB9P1', 'score': 10.04}, {'connected_gene': 'RIPK1', 'score': 3.79}, {'connected_gene': 'MIR4645', 'score': 0.77}]
chr6 GH06I002864 2864807 2867081 1.51 [{'connected_gene': 'SERPINB9', 'score': 40.25}, {'connected_gene': 'SERPINB1', 'score': 22.71}, {'connected_gene': 'ENSG00000232999', 'score': 12.06}, {'connected_gene': 'LINC01011', 'score': 11.12}, {'connected_gene': 'NQO2', 'score': 11.12}, {'connected_gene': 'SERPINB9P1', 'score': 9.22}, {'connected_gene': 'RIPK1', 'score': 1.82}, {'connected_gene': 'PIR43328', 'score': 0.44}, {'connected_gene': 'PIR60730', 'score': 0.39}]
chr6 GH06I002868 2868605 2868948 0.45 [{'connected_gene': 'SERPINB9', 'score': 40.35}, {'connected_gene': 'SERPINB1', 'score': 16.87}, {'connected_gene': 'SERPINB9P1', 'score': 16.4}, {'connected_gene': 'ENSG00000232999', 'score': 12.53}, {'connected_gene': 'NQO2', 'score': 12.5}, {'connected_gene': 'LINC01011', 'score': 11.12}, {'connected_gene': 'RIPK1', 'score': 1.49}, {'connected_gene': 'PIR60730', 'score': 0.39}, {'connected_gene': 'PIR43328', 'score': 0.39}]
chr6 GH06I002918 2918960 2919356 0.49 [{'connected_gene': 'SERPINB6', 'score': 21.7}, {'connected_gene': 'SERPINB9', 'score': 12.11}, {'connected_gene': 'LINC01011', 'score': 11.68}, {'connected_gene': 'NQO2', 'score': 11.68}, {'connected_gene': 'SERPINB1', 'score': 10.11}, {'connected_gene': 'RIPK1', 'score': 2.41}, {'connected_gene': 'ENSG00000228365', 'score': 0.77}, {'connected_gene': 'LOC105374887', 'score': 0.34}, {'connected_gene': 'GC06M002906', 'score': 0.34}]
chr6 GH06I002979 2979320 2992919 2.35 [{'connected_gene': 'NQO2', 'score': 568.94}, {'connected_gene': 'LINC01011', 'score': 558.54}, {'connected_gene': 'RIPK1', 'score': 66.42}, {'connected_gene': 'PSMG4', 'score': 24.19}, {'connected_gene': 'ENSG00000228170', 'score': 21.01}, {'connected_gene': 'WRNIP1', 'score': 20.82}, {'connected_gene': 'ENSG00000272320', 'score': 20.78}, {'connected_gene': 'LOC105374888', 'score': 18.48}, {'connected_gene': 'SERPINB9', 'score': 16.16}, {'connected_gene': 'SERPINB6', 'score': 13.88}, {'connected_gene': 'ENSG00000232999', 'score': 11.21}, {'connected_gene': 'MYLK4', 'score': 9.6}, {'connected_gene': 'HTATSF1P2', 'score': 7.4}, {'connected_gene': 'SERPINB1', 'score': 3.15}, {'connected_gene': 'GC06P002979', 'score': 0.44}, {'connected_gene': 'GC06P002980', 'score': 0.44}]
chr6 GH06I003418 3418021 3421000 1.37 [{'connected_gene': 'PSMG4', 'score': 12.3}, {'connected_gene': 'PRPF4B', 'score': 12.14}, {'connected_gene': 'SLC22A23', 'score': 6.55}, {'connected_gene': 'SERPINB1', 'score': 5.65}, {'connected_gene': 'LOC105374890', 'score': 0.44}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6 GH06I002725 2725750 2727439 1.48 [{'connected_gene': 'MYLK4', 'score': 18.32}, {'connected_gene': 'WRNIP1', 'score': 11.84}, {'connected_gene': 'SERPINB9', 'score': 9.56}, {'connected_gene': 'SERPINB1', 'score': 3.28}, {'connected_gene': 'RIPK1', 'score': 1.26}, {'connected_gene': 'NQO2', 'score': 1.2}, {'connected_gene': 'GC06P002732', 'score': 0.44}, {'connected_gene': 'GC06P002711', 'score': 0.37}, {'connected_gene': 'GC06M002701', 'score': 0.29}]
chr6 GH06I002788 2788856 2795076 1.33 [{'connected_gene': 'MYLK4', 'score': 16.94}, {'connected_gene': 'SERPINB1', 'score': 14.02}, {'connected_gene': 'WRNIP1', 'score': 12.81}, {'connected_gene': 'SERPINB9', 'score': 12.44}, {'connected_gene': 'ENSG00000232999', 'score': 12.43}, {'connected_gene': 'LINC01011', 'score': 11.65}, {'connected_gene': 'NQO2', 'score': 11.65}, {'connected_gene': 'SERPINB6', 'score': 11.6}, {'connected_gene': 'GC06P002811', 'score': 0.37}]
chr6 GH06I003441 3441330 3442496 0.31 [{'connected_gene': 'SERPINB1', 'score': 5.01}, {'connected_gene': 'SLC22A23', 'score': 4.91}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6 GH06I002869 2868201 2868400 0.46 [{'connected_gene': 'SERPINB1', 'score': 12.2}, {'connected_gene': 'SERPINB9', 'score': 12.09}, {'connected_gene': 'ENSG00000232999', 'score': 12.07}, {'connected_gene': 'LINC01011', 'score': 11.12}, {'connected_gene': 'NQO2', 'score': 11.12}, {'connected_gene': 'SERPINB9P1', 'score': 9.26}, {'connected_gene': 'PIR60730', 'score': 0.39}, {'connected_gene': 'PIR43328', 'score': 0.39}]
chr6 GH06I002799 2799328 2800841 1.37 [{'connected_gene': 'SERPINB1', 'score': 9.65}, {'connected_gene': 'SERPINB9', 'score': 1.85}, {'connected_gene': 'GC06P002811', 'score': 0.39}, {'connected_gene': 'MYLK4', 'score': 0.31}]
chr6 GH06I002836 2836869 2843581 2.5 [{'connected_gene': 'SERPINB1', 'score': 562.89}, {'connected_gene': 'SERPINB9', 'score': 17.59}, {'connected_gene': 'SERPINB9P1', 'score': 13.84}, {'connected_gene': 'LINC01011', 'score': 12.55}, {'connected_gene': 'NQO2', 'score': 12.55}, {'connected_gene': 'ENSG00000232999', 'score': 12.36}, {'connected_gene': 'SERPINB6', 'score': 11.58}, {'connected_gene': 'WRNIP1', 'score': 11.3}, {'connected_gene': 'MYLK4', 'score': 10.51}, {'connected_gene': 'GC06P002818', 'score': 0.34}]
chr6 GH06I002684 2684167 2684376 1.03 [{'connected_gene': 'LINC01600', 'score': 11.34}, {'connected_gene': 'LINC02521', 'score': 11.31}, {'connected_gene': 'SERPINB9', 'score': 11.01}, {'connected_gene': 'SERPINB1', 'score': 3.25}, {'connected_gene': 'NQO2', 'score': 1.27}, {'connected_gene': 'GC06M002670', 'score': 0.39}, {'connected_gene': 'GC06P002711', 'score': 0.31}, {'connected_gene': 'MYLK4', 'score': 0.17}]
chr6 GH06I002546 2546847 2547839 0.76 [{'connected_gene': 'LINC02521', 'score': 11.51}, {'connected_gene': 'LINC01600', 'score': 11.5}, {'connected_gene': 'SERPINB1', 'score': 1.27}, {'connected_gene': 'GC06P002544', 'score': 0.77}, {'connected_gene': 'ENSG00000280423', 'score': 0.39}, {'connected_gene': 'GC06M002417', 'score': 0.34}]
chr6 GH06I003431 3431420 3433365 0.69 [{'connected_gene': 'TUBB2BP1', 'score': 5.07}, {'connected_gene': 'SERPINB1', 'score': 4.31}, {'connected_gene': 'GC06M003429', 'score': 0.77}, {'connected_gene': 'SLC22A23', 'score': 0.34}]
chr6 GH06I002951 2951419 2953546 1.66 [{'connected_gene': 'PIR46440', 'score': 550.77}, {'connected_gene': 'GC06M002954', 'score': 550.77}, {'connected_gene': 'SERPINB9', 'score': 32.72}, {'connected_gene': 'SERPINB6', 'score': 21.61}, {'connected_gene': 'SERPINB1', 'score': 19.66}, {'connected_gene': 'NQO2', 'score': 14.62}, {'connected_gene': 'LINC01011', 'score': 12.88}, {'connected_gene': 'ENSG00000232999', 'score': 11.69}, {'connected_gene': 'MYLK4', 'score': 10.08}, {'connected_gene': 'RIPK1', 'score': 2.05}, {'connected_gene': 'GC06P002948', 'score': 0.77}]
chr6 GH06I002652 2652046 2652184 0.22 [{'connected_gene': 'GC06M002652', 'score': 550.77}, {'connected_gene': 'SERPINB9', 'score': 6.19}, {'connected_gene': 'SERPINB1', 'score': 2.1}, {'connected_gene': 'GC06P002649', 'score': 0.77}]
chr6 GH06I002947 2947080 2950401 0.43 [{'connected_gene': 'GC06P002948', 'score': 550.77}, {'connected_gene': 'SERPINB6', 'score': 21.67}, {'connected_gene': 'LINC01011', 'score': 12.53}, {'connected_gene': 'NQO2', 'score': 12.53}, {'connected_gene': 'ENSG00000232999', 'score': 11.71}, {'connected_gene': 'SERPINB9', 'score': 11.68}, {'connected_gene': 'SERPINB1', 'score': 11.6}, {'connected_gene': 'WRNIP1', 'score': 10.06}, {'connected_gene': 'PIR46440', 'score': 0.77}, {'connected_gene': 'GC06M002954', 'score': 0.77}]
chr6 GH06I002732 2732601 2734428 1.57 [{'connected_gene': 'GC06P002732', 'score': 550.77}, {'connected_gene': 'MYLK4', 'score': 19.06}, {'connected_gene': 'SERPINB9', 'score': 15.67}, {'connected_gene': 'WRNIP1', 'score': 13.19}, {'connected_gene': 'PSMG4', 'score': 12.11}, {'connected_gene': 'SERPINB1', 'score': 5.28}, {'connected_gene': 'NQO2', 'score': 1.79}, {'connected_gene': 'RIPK1', 'score': 1.66}, {'connected_gene': 'GC06P002738', 'score': 0.77}, {'connected_gene': 'GC06M002701', 'score': 0.31}]
chr6 GH06I002874 2874160 2882029 2.21 [{'connected_gene': 'PIR60730', 'score': 550.77}, {'connected_gene': 'SERPINB9P1', 'score': 52.9}, {'connected_gene': 'SERPINB9', 'score': 46.98}, {'connected_gene': 'SERPINB1', 'score': 19.88}, {'connected_gene': 'ENSG00000232999', 'score': 13.47}, {'connected_gene': 'NQO2', 'score': 13.39}, {'connected_gene': 'SERPINB6', 'score': 12.02}, {'connected_gene': 'ENSG00000272320', 'score': 11.87}, {'connected_gene': 'LINC01011', 'score': 11.43}, {'connected_gene': 'PSMG4', 'score': 11.15}, {'connected_gene': 'MYLK4', 'score': 10.44}, {'connected_gene': 'RIPK1', 'score': 1.96}, {'connected_gene': 'PIR43328', 'score': 0.37}]
chr6 GH06I002816 2816860 2821249 1.45 [{'connected_gene': 'GC06P002818', 'score': 550.77}, {'connected_gene': 'SERPINB1', 'score': 19.3}, {'connected_gene': 'SERPINB9', 'score': 14.4}, {'connected_gene': 'ENSG00000232999', 'score': 11.39}, {'connected_gene': 'MYLK4', 'score': 10.39}, {'connected_gene': 'GC06P002815', 'score': 0.77}]
chr6 GH06I002808 2808756 2811527 1.18 [{'connected_gene': 'GC06P002811', 'score': 550.77}, {'connected_gene': 'SERPINB1', 'score': 12.89}, {'connected_gene': 'SERPINB9', 'score': 11.39}, {'connected_gene': 'ENSG00000232999', 'score': 11.38}, {'connected_gene': 'MYLK4', 'score': 0.26}]
chr6 GH06I002658 2658523 2660401 1.03 [{'connected_gene': 'GC06M002657', 'score': 550.77}, {'connected_gene': 'LINC01600', 'score': 11.29}, {'connected_gene': 'LINC02521', 'score': 11.24}, {'connected_gene': 'MYLK4', 'score': 5.8}, {'connected_gene': 'SERPINB9', 'score': 4.55}, {'connected_gene': 'SERPINB1', 'score': 1.77}, {'connected_gene': 'GC06P002666', 'score': 0.44}]
chr6 GH06I002541 2541899 2543699 1.43 [{'connected_gene': 'GC06P002544', 'score': 550.77}, {'connected_gene': 'LINC02521', 'score': 11.25}, {'connected_gene': 'LINC01600', 'score': 11.24}, {'connected_gene': 'RIPK1', 'score': 10.64}, {'connected_gene': 'SERPINB1', 'score': 2.04}, {'connected_gene': 'GC06P002536', 'score': 0.44}, {'connected_gene': 'GC06M002417', 'score': 0.31}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.