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
ENST00000308086 [[72056788, 72058360], [72067982, 72068178], [72070468, 72074419]] [[72058289, 72058360], [72067982, 72068178], [72070468, 72070888]]
ENST00000547843 [[72058260, 72058360], [72058648, 72059220]] [[72058289, 72058360], [72058648, 72058736]]
ENST00000551488 [[72059406, 72059514], [72067982, 72068178], [72070468, 72070748]] [[72068127, 72068178], [72070468, 72070748]]
ENST00000551238 [[72061562, 72061690], [72067982, 72068178], [72070468, 72070721]] [[72068127, 72068178], [72070468, 72070721]]
NM_031435 [[72057676, 72058360], [72067982, 72068178], [72070468, 72074428]] [[72058289, 72058360], [72067982, 72068178], [72070468, 72070888]]
Promoter
Chrom Start End Description
chr12 72056684 72056693 CAGE_peak_13_at_THAP2_5end
chr12 72056706 72056717 CAGE_peak_10_at_THAP2_5end
chr12 72056749 72056767 CAGE_peak_6_at_THAP2_5end
chr12 72056773 72056796 CAGE_peak_3_at_THAP2_5end
chr12 72056800 72056834 CAGE_peak_1_at_THAP2_5end
chr12 72056858 72056869 CAGE_peak_14_at_THAP2_5end
chr12 72056897 72056908 CAGE_peak_12_at_THAP2_5end
chr12 72057747 72057854 CAGE_peak_4_at_THAP2_5end
chr12 72058060 72058101 CAGE_peak_5_at_THAP2_5end
chr12 72058102 72058127 CAGE_peak_7_at_THAP2_5end
chr12 72058130 72058189 CAGE_peak_2_at_THAP2_5end
chr12 72061635 72061649 CAGE_peak_21_at_THAP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I071654 71654469 71656364 0.62 [{'connected_gene': 'TMEM19', 'score': 11.55}, {'connected_gene': 'ENSG00000257515', 'score': 6.39}, {'connected_gene': 'THAP2', 'score': 0.44}, {'connected_gene': 'ZFC3H1', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.37}]
chr12 GH12I071747 71747101 71747250 0.64 [{'connected_gene': 'TMEM19', 'score': 11.39}, {'connected_gene': 'ZFC3H1', 'score': 11.13}, {'connected_gene': 'THAP2', 'score': 11.12}, {'connected_gene': 'ENSG00000212461', 'score': 10.96}, {'connected_gene': 'RAB21', 'score': 0.44}, {'connected_gene': 'ENSG00000257515', 'score': 0.28}]
chr12 GH12I071650 71650447 71653218 0.56 [{'connected_gene': 'TMEM19', 'score': 11.55}, {'connected_gene': 'ENSG00000257515', 'score': 7.26}, {'connected_gene': 'ZFC3H1', 'score': 5.32}, {'connected_gene': 'THAP2', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.39}]
chr12 GH12I071658 71658352 71660740 0.2 [{'connected_gene': 'TMEM19', 'score': 11.56}, {'connected_gene': 'ENSG00000212461', 'score': 11.49}, {'connected_gene': 'ENSG00000257515', 'score': 7.32}, {'connected_gene': 'ZFC3H1', 'score': 4.57}, {'connected_gene': 'THAP2', 'score': 0.77}]
chr12 GH12I071753 71753104 71753160 0.89 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 11.42}, {'connected_gene': 'ZFC3H1', 'score': 11.24}, {'connected_gene': 'THAP2', 'score': 11.23}, {'connected_gene': 'ENSG00000212461', 'score': 10.82}, {'connected_gene': 'ENSG00000257515', 'score': 0.26}]
chr12 GH12I071661 71661475 71666229 2.31 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'THAP2', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 10.76}, {'connected_gene': 'ENSG00000257515', 'score': 7.4}]
chr12 GH12I071625 71625973 71627867 1.08 [{'connected_gene': 'ZFC3H1', 'score': 15.67}, {'connected_gene': 'THAP2', 'score': 11.18}, {'connected_gene': 'ENSG00000257515', 'score': 7.14}, {'connected_gene': 'GC12P071640', 'score': 0.39}, {'connected_gene': 'ENSG00000257761', 'score': 0.26}]
chr12 GH12I071607 71607726 71609130 0.2 [{'connected_gene': 'ZFC3H1', 'score': 14.95}, {'connected_gene': 'ENSG00000212461', 'score': 11.56}, {'connected_gene': 'THAP2', 'score': 11.0}, {'connected_gene': 'ENSG00000257515', 'score': 7.11}, {'connected_gene': 'ENSG00000257761', 'score': 0.34}, {'connected_gene': 'GC12P071640', 'score': 0.29}]
chr12 GH12I071667 71667006 71667889 0.31 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'ENSG00000257515', 'score': 7.42}, {'connected_gene': 'THAP2', 'score': 0.77}]
chr12 GH12I071648 71648976 71650096 0.31 [{'connected_gene': 'ZFC3H1', 'score': 4.47}, {'connected_gene': 'THAP2', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.39}]
chr12 GH12I071641 71641027 71643329 0.77 [{'connected_gene': 'ZFC3H1', 'score': 11.66}, {'connected_gene': 'ENSG00000257515', 'score': 7.21}, {'connected_gene': 'ENSG00000212461', 'score': 0.77}, {'connected_gene': 'THAP2', 'score': 0.34}]
chr12 GH12I071668 71668375 71669638 0.2 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'ENSG00000258064', 'score': 0.44}, {'connected_gene': 'THAP2', 'score': 0.44}]
chr12 GH12I071643 71643658 71648841 0.43 [{'connected_gene': 'ZFC3H1', 'score': 15.62}, {'connected_gene': 'ENSG00000257515', 'score': 7.23}, {'connected_gene': 'ENSG00000212461', 'score': 0.44}, {'connected_gene': 'THAP2', 'score': 0.37}]
chr12 GH12I071609 71609729 71611270 0.51 [{'connected_gene': 'ENSG00000212461', 'score': 11.58}, {'connected_gene': 'THAP2', 'score': 11.0}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'GC12P071640', 'score': 0.31}, {'connected_gene': 'ENSG00000257761', 'score': 0.31}]
chr12 GH12I071671 71671721 71672352 1.03 [{'connected_gene': 'ENSG00000257515', 'score': 6.22}, {'connected_gene': 'TMEM19', 'score': 4.69}, {'connected_gene': 'ZFC3H1', 'score': 0.77}, {'connected_gene': 'ENSG00000258064', 'score': 0.77}, {'connected_gene': 'THAP2', 'score': 0.44}]
chr12 GH12I071638 71638440 71640633 0.57 [{'connected_gene': 'GC12P071640', 'score': 550.77}, {'connected_gene': 'ENSG00000212461', 'score': 550.77}, {'connected_gene': 'ZFC3H1', 'score': 17.04}, {'connected_gene': 'THAP2', 'score': 12.1}, {'connected_gene': 'ENSG00000257515', 'score': 7.19}, {'connected_gene': 'LGR5', 'score': 5.13}]
chr12 GH12I071611 71611673 71613896 0.31 [{'connected_gene': 'ENSG00000212461', 'score': 11.94}, {'connected_gene': 'ZFC3H1', 'score': 11.21}, {'connected_gene': 'THAP2', 'score': 11.13}, {'connected_gene': 'ENSG00000257515', 'score': 7.12}, {'connected_gene': 'GC12P071640', 'score': 0.31}, {'connected_gene': 'ENSG00000257761', 'score': 0.31}]