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
ENST00000518136 [[27233121, 27233177], [27234404, 27235219]] None
ENST00000222753 [[27234636, 27238061], [27238774, 27239725]] [[27237816, 27238061], [27238774, 27239696]]
NM_000522 [[27236498, 27238061], [27238774, 27239725]] [[27237816, 27238061], [27238774, 27239696]]
Promoter
Chrom Start End Description
chr7 27239703 27239715 CAGE_peak_1_at_HOXA13_5end
chr7 27239740 27239759 CAGE_peak_2_at_HOXA13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I028018 28018649 28020856 0.97 [{'connected_gene': 'HOXA13', 'score': 10.82}, {'connected_gene': 'ENSG00000253508', 'score': 10.82}, {'connected_gene': 'HOTTIP', 'score': 10.82}, {'connected_gene': 'HOXA11', 'score': 10.29}, {'connected_gene': 'HOXA11-AS', 'score': 10.29}, {'connected_gene': 'HOXA10', 'score': 10.29}, {'connected_gene': 'HOXA9', 'score': 10.29}, {'connected_gene': 'PIR54187', 'score': 0.39}, {'connected_gene': 'PIR39851', 'score': 0.12}, {'connected_gene': 'JAZF1', 'score': 0.1}]
chr7 GH07I027916 27916502 27916651 0.49 [{'connected_gene': 'HOXA13', 'score': 10.95}, {'connected_gene': 'HOTTIP', 'score': 10.95}, {'connected_gene': 'ENSG00000253508', 'score': 10.95}, {'connected_gene': 'PIR39851', 'score': 0.29}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I028017 28017713 28018307 0.43 [{'connected_gene': 'HOXA13', 'score': 10.34}, {'connected_gene': 'HOTTIP', 'score': 10.34}, {'connected_gene': 'ENSG00000253508', 'score': 10.33}, {'connected_gene': 'HOXA11-AS', 'score': 10.12}, {'connected_gene': 'HOXA11', 'score': 10.12}, {'connected_gene': 'HOXA10', 'score': 10.12}, {'connected_gene': 'HOXA9', 'score': 10.12}, {'connected_gene': 'PIR54187', 'score': 0.39}, {'connected_gene': 'PIR39851', 'score': 0.12}, {'connected_gene': 'JAZF1', 'score': 0.1}]
chr7 GH07I028096 28096742 28096911 0.62 [{'connected_gene': 'HOXA13', 'score': 9.9}, {'connected_gene': 'HOTTIP', 'score': 9.9}, {'connected_gene': 'ENSG00000253508', 'score': 9.9}, {'connected_gene': 'GC07P028093', 'score': 0.77}, {'connected_gene': 'GC07M028118', 'score': 0.34}, {'connected_gene': 'RNU6-979P', 'score': 0.34}, {'connected_gene': 'JAZF1', 'score': 0.18}]
chr7 GH07I027316 27316201 27316931 0.31 [{'connected_gene': 'HOXA13', 'score': 4.65}, {'connected_gene': 'HNRNPA1P73', 'score': 0.39}, {'connected_gene': 'RPL35P4', 'score': 0.25}]
chr7 GH07I027095 27095069 27181321 3.41 [{'connected_gene': 'HOXA2', 'score': 576.17}, {'connected_gene': 'HOXA9', 'score': 568.02}, {'connected_gene': 'HOXA10', 'score': 565.55}, {'connected_gene': 'HOXA1', 'score': 562.16}, {'connected_gene': 'HOXA3', 'score': 560.98}, {'connected_gene': 'HOXA6', 'score': 557.72}, {'connected_gene': 'HOXA4', 'score': 553.76}, {'connected_gene': 'HOXA5', 'score': 553.17}, {'connected_gene': 'HOXA7', 'score': 552.7}, {'connected_gene': 'HNRNPA2B1', 'score': 58.04}, {'connected_gene': 'HOTAIRM1', 'score': 43.49}, {'connected_gene': 'HOXA10-AS', 'score': 27.61}, {'connected_gene': 'HOXA-AS2', 'score': 21.16}, {'connected_gene': 'CBX3', 'score': 19.35}, {'connected_gene': 'HOXA11-AS', 'score': 15.79}, {'connected_gene': 'HOXA11', 'score': 14.27}, {'connected_gene': 'SKAP2', 'score': 13.15}, {'connected_gene': 'HOXA13', 'score': 12.76}, {'connected_gene': 'ENSG00000253508', 'score': 11.26}, {'connected_gene': 'HOTTIP', 'score': 11.25}, {'connected_gene': 'LOC105375304', 'score': 10.2}, {'connected_gene': 'KIAA0087', 'score': 9.83}, {'connected_gene': 'HOXA-AS3', 'score': 0.44}, {'connected_gene': 'ENSG00000272801', 'score': 0.39}, {'connected_gene': 'ENSG00000273433', 'score': 0.39}, {'connected_gene': 'LOC105375205', 'score': 0.34}, {'connected_gene': 'ENSG00000270182', 'score': 0.34}, {'connected_gene': 'GC07P027116', 'score': 0.34}, {'connected_gene': 'GC07M027172', 'score': 0.29}, {'connected_gene': 'MIR196B', 'score': 0.29}, {'connected_gene': 'ENSG00000277694', 'score': 0.28}, {'connected_gene': 'ENSG00000274396', 'score': 0.28}, {'connected_gene': 'ENSG00000274864', 'score': 0.28}, {'connected_gene': 'ENSG00000276771', 'score': 0.28}, {'connected_gene': 'ENSG00000257184', 'score': 0.26}, {'connected_gene': 'HOXA10-HOXA9', 'score': 0.26}, {'connected_gene': 'ENSG00000276528', 'score': 0.26}]
chr7 GH07I028082 28082367 28084999 1.11 [{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7 GH07I028081 28081201 28081400 0.2 [{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7 GH07I027603 27603962 27604111 0.63 [{'connected_gene': 'HIBADH', 'score': 21.2}, {'connected_gene': 'HOXA13', 'score': 10.64}, {'connected_gene': 'HOTTIP', 'score': 10.64}, {'connected_gene': 'ENSG00000253508', 'score': 10.64}, {'connected_gene': 'TSL', 'score': 0.39}, {'connected_gene': 'PIR36003', 'score': 0.19}]
chr7 GH07I027602 27602314 27603380 0.84 [{'connected_gene': 'HIBADH', 'score': 23.1}, {'connected_gene': 'HOXA13', 'score': 10.64}, {'connected_gene': 'HOTTIP', 'score': 10.64}, {'connected_gene': 'ENSG00000253508', 'score': 10.64}, {'connected_gene': 'TSL', 'score': 0.39}, {'connected_gene': 'PIR36003', 'score': 0.19}]
chr7 GH07I027945 27945982 27947013 0.31 [{'connected_gene': 'HIBADH', 'score': 9.97}, {'connected_gene': 'ENSG00000253508', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.65}, {'connected_gene': 'HOTTIP', 'score': 9.65}, {'connected_gene': 'PIR39851', 'score': 0.21}, {'connected_gene': 'PIR54187', 'score': 0.18}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027784 27784400 27784800 0.96 [{'connected_gene': 'HIBADH', 'score': 11.07}, {'connected_gene': 'HOXA11-AS', 'score': 10.23}, {'connected_gene': 'HOXA10', 'score': 10.23}, {'connected_gene': 'HOXA9', 'score': 10.23}, {'connected_gene': 'HOXA11', 'score': 10.23}, {'connected_gene': 'HOTTIP', 'score': 10.2}, {'connected_gene': 'HOXA13', 'score': 10.2}, {'connected_gene': 'ENSG00000253508', 'score': 10.2}, {'connected_gene': 'GC07M027748', 'score': 0.29}, {'connected_gene': 'GC07P027829', 'score': 0.26}, {'connected_gene': 'TAX1BP1', 'score': 0.25}]
chr7 GH07I027942 27942847 27945872 0.49 [{'connected_gene': 'HIBADH', 'score': 9.97}, {'connected_gene': 'ENSG00000253508', 'score': 9.65}, {'connected_gene': 'HOTTIP', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.65}, {'connected_gene': 'TAX1BP1', 'score': 5.14}, {'connected_gene': 'PIR39851', 'score': 0.22}, {'connected_gene': 'PIR54187', 'score': 0.17}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I028063 28063992 28066439 0.54 [{'connected_gene': 'HOTTIP', 'score': 9.07}, {'connected_gene': 'ENSG00000253508', 'score': 9.07}, {'connected_gene': 'HOXA13', 'score': 9.06}, {'connected_gene': 'GC07P028054', 'score': 0.39}, {'connected_gene': 'GC07P028093', 'score': 0.31}, {'connected_gene': 'JAZF1', 'score': 0.13}]
chr7 GH07I027933 27933565 27934371 0.56 [{'connected_gene': 'HOTTIP', 'score': 11.89}, {'connected_gene': 'HOXA13', 'score': 11.89}, {'connected_gene': 'ENSG00000253508', 'score': 10.93}, {'connected_gene': 'EVX1-AS', 'score': 10.22}, {'connected_gene': 'ENSG00000253308', 'score': 10.22}, {'connected_gene': 'EVX1', 'score': 10.22}, {'connected_gene': 'PIR39851', 'score': 0.25}, {'connected_gene': 'PIR54187', 'score': 0.15}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I028086 28086201 28086699 0.54 [{'connected_gene': 'ENSG00000253508', 'score': 10.12}, {'connected_gene': 'HOXA13', 'score': 10.11}, {'connected_gene': 'HOTTIP', 'score': 10.11}, {'connected_gene': 'GC07P028093', 'score': 0.44}, {'connected_gene': 'GC07P028054', 'score': 0.29}, {'connected_gene': 'JAZF1', 'score': 0.16}]
chr7 GH07I027922 27922996 27923499 0.46 [{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027920 27920991 27921638 1.04 [{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'ENSG00000253308', 'score': 10.65}, {'connected_gene': 'EVX1', 'score': 10.64}, {'connected_gene': 'EVX1-AS', 'score': 10.08}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7 GH07I027248 27248649 27249872 0.63 [{'connected_gene': 'GC07P027262', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 11.86}, {'connected_gene': 'HOTTIP', 'score': 11.85}, {'connected_gene': 'ENSG00000253508', 'score': 10.7}, {'connected_gene': 'EVX1', 'score': 0.44}, {'connected_gene': 'GC07M027270', 'score': 0.34}]
chr7 GH07I028061 28061742 28063471 0.88 [{'connected_gene': 'ENSG00000253508', 'score': 9.07}, {'connected_gene': 'HOXA13', 'score': 9.06}, {'connected_gene': 'HOTTIP', 'score': 9.06}, {'connected_gene': 'GC07P028054', 'score': 0.44}, {'connected_gene': 'LOC105375208', 'score': 0.31}, {'connected_gene': 'GC07P028093', 'score': 0.29}, {'connected_gene': 'JAZF1', 'score': 0.13}]
chr7 GH07I027199 27199600 27201124 2.07 [{'connected_gene': 'ENSG00000278708', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 550.77}, {'connected_gene': 'ENSG00000276609', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 550.77}, {'connected_gene': 'ENSG00000277469', 'score': 550.77}, {'connected_gene': 'HOXA10-AS', 'score': 8.32}]
chr7 GH07I028087 28087801 28088800 0.58 [{'connected_gene': 'ENSG00000253508', 'score': 10.12}, {'connected_gene': 'HOXA13', 'score': 10.11}, {'connected_gene': 'HOTTIP', 'score': 10.11}, {'connected_gene': 'JAZF1-AS1', 'score': 7.87}, {'connected_gene': 'GC07P028093', 'score': 0.44}, {'connected_gene': 'GC07P028054', 'score': 0.29}, {'connected_gene': 'JAZF1', 'score': 0.16}]
chr7 GH07I027202 27201422 27201611 0.74 [{'connected_gene': 'ENSG00000278708', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 550.77}, {'connected_gene': 'ENSG00000276609', 'score': 550.77}, {'connected_gene': 'ENSG00000277469', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 0.77}]
chr7 GH07I027201 27201182 27201331 0.63 [{'connected_gene': 'ENSG00000278708', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 550.77}, {'connected_gene': 'ENSG00000276609', 'score': 550.77}, {'connected_gene': 'ENSG00000277469', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 0.77}]
chr7 GH07I027196 27196186 27196600 1 [{'connected_gene': 'GC07M027197', 'score': 550.77}, {'connected_gene': 'GC07M027198', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 0.77}]
chr7 GH07I027193 27192197 27192379 0.87 [{'connected_gene': 'ENSG00000253508', 'score': 550.77}, {'connected_gene': 'HOXA11', 'score': 7.27}, {'connected_gene': 'HOXA13', 'score': 6.05}, {'connected_gene': 'HOXA10', 'score': 4.95}, {'connected_gene': 'ENSG00000278020', 'score': 0.77}]
chr7 GH07I027210 27210239 27211438 0.83 [{'connected_gene': 'ENSG00000253308', 'score': 11.75}, {'connected_gene': 'EVX1', 'score': 11.75}, {'connected_gene': 'EVX1-AS', 'score': 11.73}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 9.33}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA13', 'score': 5.9}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7 GH07I027361 27361534 27361960 0.73 [{'connected_gene': 'GC07P027363', 'score': 550.77}, {'connected_gene': 'LOC105375207', 'score': 550.77}, {'connected_gene': 'ENSG00000253508', 'score': 10.09}, {'connected_gene': 'HOXA13', 'score': 10.08}, {'connected_gene': 'HOTTIP', 'score': 10.08}, {'connected_gene': 'HNRNPA1P73', 'score': 0.29}]
chr7 GH07I028093 28093742 28093911 0.56 [{'connected_gene': 'GC07P028093', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 10.12}, {'connected_gene': 'HOXA13', 'score': 10.12}, {'connected_gene': 'ENSG00000253508', 'score': 10.11}, {'connected_gene': 'GC07P028054', 'score': 0.28}, {'connected_gene': 'JAZF1', 'score': 0.17}]
chr7 GH07I027197 27197742 27197771 0.63 [{'connected_gene': 'GC07M027197', 'score': 550.77}, {'connected_gene': 'GC07M027198', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 0.77}]
chr7 GH07I027198 27198182 27198331 0.63 [{'connected_gene': 'GC07M027197', 'score': 550.77}, {'connected_gene': 'GC07M027198', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 0.77}]
chr7 GH07I027200 27197864 27197891 0.58 [{'connected_gene': 'GC07M027197', 'score': 550.77}, {'connected_gene': 'GC07M027198', 'score': 550.77}, {'connected_gene': 'HOTTIP', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 0.77}]

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