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
ENST00000380773 [[2765647, 2766678], [2768924, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785979]] [[2765856, 2766678], [2768924, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785516]]
ENST00000380771 [[2765647, 2766678], [2768924, 2769116], [2770428, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785979]] [[2765856, 2766678], [2768924, 2769116], [2770428, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785516]]
ENST00000380769 [[2766285, 2766678], [2768924, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2787186]] [[2766516, 2766678], [2768924, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785516]]
ENST00000380764 [[2769006, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785979]] [[2770491, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785516]]
NM_130395 [[2765665, 2766678], [2768924, 2769116], [2770428, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785979]] [[2765856, 2766678], [2768924, 2769116], [2770428, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785516]]
NM_020135 [[2765665, 2766678], [2768924, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785979]] [[2765856, 2766678], [2768924, 2769116], [2770353, 2770595], [2779496, 2779726], [2783639, 2783795], [2784557, 2784637], [2785240, 2785516]]
Promoter
Chrom Start End Description
chr6 2765556 2765580 CAGE_peak_4_at_WRNIP1_5end
chr6 2765595 2765797 CAGE_peak_1_at_WRNIP1_5end
chr6 2765798 2765809 CAGE_peak_7_at_WRNIP1_5end
chr6 2765902 2765936 CAGE_peak_3_at_WRNIP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I003511 3511479 3511784 1.07 [{'connected_gene': 'PRPF4B', 'score': 44.39}, {'connected_gene': 'RIPK1', 'score': 17.16}, {'connected_gene': 'PSMG4', 'score': 13.62}, {'connected_gene': 'WRNIP1', 'score': 12.37}, {'connected_gene': 'ENSG00000272320', 'score': 10.22}, {'connected_gene': 'PIR56392', 'score': 0.77}, {'connected_gene': 'GC06P003478', 'score': 0.29}]
chr6 GH06I003337 3337202 3342717 1.43 [{'connected_gene': 'PRPF4B', 'score': 35.42}, {'connected_gene': 'PSMG4', 'score': 21.97}, {'connected_gene': 'SLC22A23', 'score': 11.12}, {'connected_gene': 'RIPK1', 'score': 10.19}, {'connected_gene': 'TUBB2B', 'score': 9.9}, {'connected_gene': 'ENSG00000272320', 'score': 5.99}, {'connected_gene': 'WRNIP1', 'score': 5.47}, {'connected_gene': 'GC06M003328', 'score': 0.39}, {'connected_gene': 'GC06M003358', 'score': 0.2}]
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 GH06I002713 2713686 2717855 1.1 [{'connected_gene': 'WRNIP1', 'score': 17.73}, {'connected_gene': 'MYLK4', 'score': 17.6}, {'connected_gene': 'GC06P002711', 'score': 0.77}, {'connected_gene': 'GC06P002732', 'score': 0.37}, {'connected_gene': 'GC06M002701', 'score': 0.25}]
chr6 GH06I002718 2718210 2719584 0.77 [{'connected_gene': 'WRNIP1', 'score': 17.79}, {'connected_gene': 'MYLK4', 'score': 16.08}, {'connected_gene': 'GC06P002711', 'score': 0.44}, {'connected_gene': 'GC06P002732', 'score': 0.39}, {'connected_gene': 'GC06M002701', 'score': 0.26}]
chr6 GH06I002734 2734801 2735000 0.96 [{'connected_gene': 'WRNIP1', 'score': 13.19}, {'connected_gene': 'GC06P002732', 'score': 0.77}, {'connected_gene': 'GC06P002738', 'score': 0.77}, {'connected_gene': 'GC06M002701', 'score': 0.31}, {'connected_gene': 'MYLK4', 'score': 0.28}]
chr6 GH06I001771 1771075 1771982 0.91 [{'connected_gene': 'WRNIP1', 'score': 21.16}, {'connected_gene': 'ELF2P2', 'score': 20.3}, {'connected_gene': 'GC06P001781', 'score': 0.39}, {'connected_gene': 'GC06M001726', 'score': 0.26}, {'connected_gene': 'GMDS', 'score': 0.04}]
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 GH06I002779 2779514 2780767 0.2 [{'connected_gene': 'SERPINB9', 'score': 11.66}, {'connected_gene': 'ENSG00000232999', 'score': 11.65}, {'connected_gene': 'SERPINB6', 'score': 11.38}, {'connected_gene': 'LINC01011', 'score': 10.46}, {'connected_gene': 'NQO2', 'score': 10.46}, {'connected_gene': 'WRNIP1', 'score': 0.39}, {'connected_gene': 'MYLK4', 'score': 0.39}, {'connected_gene': 'GC06P002811', 'score': 0.29}]
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 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 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 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 GH06I002777 2777025 2779122 0.49 [{'connected_gene': 'LINC01011', 'score': 10.46}, {'connected_gene': 'NQO2', 'score': 10.46}, {'connected_gene': 'MYLK4', 'score': 9.02}, {'connected_gene': 'WRNIP1', 'score': 0.39}, {'connected_gene': 'GC06P002811', 'score': 0.29}]
chr6 GH06I003612 3612009 3613477 0.97 [{'connected_gene': 'PSMG4', 'score': 36.57}, {'connected_gene': 'PRPF4B', 'score': 34.14}, {'connected_gene': 'C6orf201', 'score': 13.5}, {'connected_gene': 'FAM217A', 'score': 12.09}, {'connected_gene': 'WRNIP1', 'score': 9.84}, {'connected_gene': 'GC06P003631', 'score': 0.37}, {'connected_gene': 'GC06M003534', 'score': 0.28}, {'connected_gene': 'LOC100507336', 'score': 0.14}]
chr6 GH06I003226 3226192 3230241 1.7 [{'connected_gene': 'TUBB2B', 'score': 558.44}, {'connected_gene': 'LINC01011', 'score': 12.38}, {'connected_gene': 'PSMG4', 'score': 10.77}, {'connected_gene': 'WRNIP1', 'score': 10.72}, {'connected_gene': 'TUBB2BP1', 'score': 7.04}, {'connected_gene': 'GC06M003225', 'score': 0.77}, {'connected_gene': 'GC06M003227', 'score': 0.77}]
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 GH06I002728 2728119 2730532 0.57 [{'connected_gene': 'MYLK4', 'score': 17.43}, {'connected_gene': 'WRNIP1', 'score': 16.67}, {'connected_gene': 'GC06P002732', 'score': 0.77}, {'connected_gene': 'GC06P002711', 'score': 0.37}, {'connected_gene': 'GC06M002701', 'score': 0.29}]
chr6 GH06I002740 2739672 2740996 0.52 [{'connected_gene': 'MYLK4', 'score': 6.71}, {'connected_gene': 'WRNIP1', 'score': 5.17}, {'connected_gene': 'GC06P002738', 'score': 0.77}, {'connected_gene': 'GC06M002701', 'score': 0.34}]
chr6 GH06I002702 2702784 2703769 0.2 [{'connected_gene': 'MYLK4', 'score': 16.69}, {'connected_gene': 'WRNIP1', 'score': 4.62}, {'connected_gene': 'GC06P002711', 'score': 0.44}, {'connected_gene': 'GC06M002670', 'score': 0.29}, {'connected_gene': 'GC06M002701', 'score': 0.22}]
chr6 GH06I002699 2699974 2700808 0.2 [{'connected_gene': 'MYLK4', 'score': 15.91}, {'connected_gene': 'WRNIP1', 'score': 11.45}, {'connected_gene': 'GC06P002711', 'score': 0.39}, {'connected_gene': 'GC06M002670', 'score': 0.31}]
chr6 GH06I002724 2724007 2724690 0.46 [{'connected_gene': 'MYLK4', 'score': 17.47}, {'connected_gene': 'WRNIP1', 'score': 11.2}, {'connected_gene': 'GC06P002732', 'score': 0.44}, {'connected_gene': 'GC06P002711', 'score': 0.39}, {'connected_gene': 'GC06M002701', 'score': 0.28}]
chr6 GH06I002770 2770994 2771577 0.66 [{'connected_gene': 'MYLK4', 'score': 550.77}, {'connected_gene': 'GC06P002769', 'score': 550.77}, {'connected_gene': 'ENSG00000228170', 'score': 16.0}, {'connected_gene': 'SERPINB9', 'score': 10.82}, {'connected_gene': 'ENSG00000232999', 'score': 10.81}, {'connected_gene': 'WRNIP1', 'score': 0.44}, {'connected_gene': 'GC06P002811', 'score': 0.26}]
chr6 GH06I002782 2782130 2784876 1 [{'connected_gene': 'MYLK4', 'score': 13.88}, {'connected_gene': 'ENSG00000232999', 'score': 11.66}, {'connected_gene': 'SERPINB9', 'score': 11.66}, {'connected_gene': 'PSMG4', 'score': 10.55}, {'connected_gene': 'ENSG00000272277', 'score': 9.8}, {'connected_gene': 'TUBB2B', 'score': 4.88}, {'connected_gene': 'WRNIP1', 'score': 0.37}, {'connected_gene': 'GC06P002811', 'score': 0.31}]
chr6 GH06I002769 2769941 2770671 1.18 [{'connected_gene': 'MYLK4', 'score': 550.77}, {'connected_gene': 'GC06P002769', 'score': 550.77}, {'connected_gene': 'LINC01011', 'score': 12.39}, {'connected_gene': 'SERPINB9', 'score': 10.82}, {'connected_gene': 'ENSG00000232999', 'score': 10.81}, {'connected_gene': 'WRNIP1', 'score': 0.77}, {'connected_gene': 'GC06P002811', 'score': 0.26}]
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 GH06I002706 2706529 2707214 0.38 [{'connected_gene': 'MYLK4', 'score': 16.84}, {'connected_gene': 'LINC01600', 'score': 10.13}, {'connected_gene': 'LINC02521', 'score': 10.12}, {'connected_gene': 'WRNIP1', 'score': 6.63}, {'connected_gene': 'GC06P002711', 'score': 0.77}, {'connected_gene': 'GC06M002670', 'score': 0.28}, {'connected_gene': 'GC06M002701', 'score': 0.23}]
chr6 GH06I002028 2028567 2028716 0.92 [{'connected_gene': 'ELF2P2', 'score': 19.64}, {'connected_gene': 'WRNIP1', 'score': 12.14}, {'connected_gene': 'GC06P002031', 'score': 0.77}, {'connected_gene': 'GC06M001989', 'score': 0.37}, {'connected_gene': 'GC06M001917', 'score': 0.21}, {'connected_gene': 'GMDS', 'score': 0.08}]
chr6 GH06I003745 3745548 3754321 2.65 [{'connected_gene': 'PXDC1', 'score': 556.7}, {'connected_gene': 'ENSG00000270504', 'score': 550.77}, {'connected_gene': 'PSMG4', 'score': 13.52}, {'connected_gene': 'ENSG00000219992', 'score': 13.17}, {'connected_gene': 'WRNIP1', 'score': 11.6}, {'connected_gene': 'ENSG00000272277', 'score': 10.19}, {'connected_gene': 'ENSG00000260604', 'score': 5.32}, {'connected_gene': 'LOC100507336', 'score': 4.67}, {'connected_gene': 'TUBB2BP1', 'score': 4.55}]
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 GH06I003052 3052801 3055200 1.44 [{'connected_gene': 'ENSG00000229282', 'score': 550.77}, {'connected_gene': 'PIR47178', 'score': 550.77}, {'connected_gene': 'ENSG00000272277', 'score': 46.01}, {'connected_gene': 'PRPF4B', 'score': 33.29}, {'connected_gene': 'WRNIP1', 'score': 13.35}, {'connected_gene': 'PSMG4', 'score': 12.16}, {'connected_gene': 'RIPK1', 'score': 11.04}, {'connected_gene': 'SERPINB8P1', 'score': 0.44}]
chr6 GH06I002763 2763330 2769090 2.29 [{'connected_gene': 'PIR54135', 'score': 550.77}, {'connected_gene': 'WRNIP1', 'score': 550.77}, {'connected_gene': 'MYLK4', 'score': 10.32}, {'connected_gene': 'GC06P002769', 'score': 0.77}]
chr6 GH06I002785 2785830 2786737 0.31 [{'connected_gene': 'ENSG00000232999', 'score': 12.11}, {'connected_gene': 'SERPINB9', 'score': 12.11}, {'connected_gene': 'LINC01011', 'score': 10.88}, {'connected_gene': 'NQO2', 'score': 10.88}, {'connected_gene': 'MYLK4', 'score': 0.37}, {'connected_gene': 'WRNIP1', 'score': 0.34}, {'connected_gene': 'GC06P002811', 'score': 0.31}]
chr6 GH06I002771 2771811 2773446 0.38 [{'connected_gene': 'ENSG00000232999', 'score': 10.74}, {'connected_gene': 'SERPINB9', 'score': 10.73}, {'connected_gene': 'LINC01011', 'score': 10.38}, {'connected_gene': 'NQO2', 'score': 10.38}, {'connected_gene': 'MYLK4', 'score': 0.77}, {'connected_gene': 'WRNIP1', 'score': 0.44}, {'connected_gene': 'GC06P002811', 'score': 0.28}]
chr6 GH06I002975 2975917 2978584 1.23 [{'connected_gene': 'GC06P002979', 'score': 550.77}, {'connected_gene': 'SERPINB6', 'score': 14.54}, {'connected_gene': 'ENSG00000232999', 'score': 12.22}, {'connected_gene': 'SERPINB9', 'score': 12.21}, {'connected_gene': 'WRNIP1', 'score': 10.33}]
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 GH06I002708 2708291 2709955 0.2 [{'connected_gene': 'GC06P002711', 'score': 550.77}, {'connected_gene': 'MYLK4', 'score': 17.34}, {'connected_gene': 'WRNIP1', 'score': 4.63}, {'connected_gene': 'GC06M002670', 'score': 0.28}, {'connected_gene': 'GC06M002701', 'score': 0.23}]
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}]

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