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
ENST00000315596 [[33160563, 33160730], [33222890, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33262706], [33268359, 33268441], [33270990, 33271039], [33273866, 33274006], [33275459, 33275575], [33281070, 33281176], [33284082, 33284243], [33306237, 33306361], [33309308, 33309467], [33315217, 33315286], [33316728, 33316865], [33320114, 33320238], [33327469, 33327674], [33329979, 33330094], [33332224, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338732], [33344258, 33344698], [33344791, 33344899], [33347326, 33347462], [33349154, 33352157]] [[33222909, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33262706], [33268359, 33268441], [33270990, 33271039], [33273866, 33274006], [33275459, 33275575], [33281070, 33281176], [33284082, 33284243], [33306237, 33306361], [33309308, 33309467], [33315217, 33315286], [33316728, 33316865], [33320114, 33320238], [33327469, 33327674], [33329979, 33330094], [33332224, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338732], [33344258, 33344698], [33344791, 33344899], [33347326, 33347462], [33349154, 33349190]]
ENST00000482955 [[33160591, 33160730], [33222890, 33223017], [33225940, 33226144], [33232375, 33232486]] None
ENST00000498550 [[33160679, 33160730], [33222890, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33265405]] None
ENST00000450460 [[33160684, 33160730], [33222890, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33262706], [33268359, 33268441], [33270990, 33271039], [33273866, 33274006], [33275459, 33275575], [33281070, 33281176], [33284082, 33284243], [33306237, 33306361], [33309308, 33309467], [33315217, 33315286], [33316728, 33316865], [33320114, 33320238], [33327469, 33327674], [33329979, 33330094], [33332224, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338732], [33344258, 33344698], [33344791, 33345016], [33349154, 33350046]] [[33222909, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33262706], [33268359, 33268441], [33270990, 33271039], [33273866, 33274006], [33275459, 33275575], [33281070, 33281176], [33284082, 33284243], [33306237, 33306361], [33309308, 33309467], [33315217, 33315286], [33316728, 33316865], [33320114, 33320238], [33327469, 33327674], [33329979, 33330094], [33332224, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338732], [33344258, 33344698], [33344791, 33344903]]
ENST00000493653 [[33160687, 33160730], [33222890, 33223017], [33225940, 33226742]] None
ENST00000466078 [[33160705, 33160730], [33222890, 33224754]] None
ENST00000481616 [[33275120, 33275575], [33281070, 33281176], [33284082, 33284205]] None
ENST00000447833 [[33332306, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338726], [33344258, 33344684]] [[33332306, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338726], [33344258, 33344684]]
ENST00000474274 [[33344327, 33344698], [33344791, 33345217]] None
NM_015032 [[33160563, 33160730], [33222890, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33262706], [33268359, 33268441], [33270990, 33271039], [33273866, 33274006], [33275459, 33275575], [33281070, 33281176], [33284082, 33284243], [33306237, 33306361], [33309308, 33309467], [33315217, 33315286], [33316728, 33316865], [33320114, 33320238], [33327469, 33327674], [33329979, 33330094], [33332224, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338732], [33344258, 33344698], [33344791, 33344899], [33347326, 33347462], [33349154, 33352158]] [[33222909, 33223017], [33225940, 33226144], [33232375, 33232462], [33232570, 33232668], [33233290, 33233417], [33241900, 33241981], [33247352, 33247493], [33249980, 33250096], [33252971, 33253066], [33258014, 33258160], [33261270, 33261422], [33262592, 33262706], [33268359, 33268441], [33270990, 33271039], [33273866, 33274006], [33275459, 33275575], [33281070, 33281176], [33284082, 33284243], [33306237, 33306361], [33309308, 33309467], [33315217, 33315286], [33316728, 33316865], [33320114, 33320238], [33327469, 33327674], [33329979, 33330094], [33332224, 33332357], [33332671, 33332791], [33333765, 33333828], [33334712, 33334858], [33338626, 33338732], [33344258, 33344698], [33344791, 33344899], [33347326, 33347462], [33349154, 33349190]]
Promoter
Chrom Start End Description
chr13 33160553 33160564 CAGE_peak_4_at_PDS5B_5end
chr13 33160579 33160617 CAGE_peak_2_at_PDS5B_5end
chr13 33160642 33160667 CAGE_peak_3_at_PDS5B_5end
chr13 33160668 33160714 CAGE_peak_1_at_PDS5B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I033045 33045924 33046073 0.43 [{'connected_gene': 'KL', 'score': 11.7}, {'connected_gene': 'PDS5B', 'score': 9.78}, {'connected_gene': 'STARD13-IT1', 'score': 0.13}]
chr13 GH13I032791 32791323 32792432 0.67 [{'connected_gene': 'KL', 'score': 10.22}, {'connected_gene': 'PDS5B', 'score': 9.9}, {'connected_gene': 'ENSG00000212293', 'score': 5.74}, {'connected_gene': 'ENSG00000277151', 'score': 0.44}, {'connected_gene': 'LINC00423', 'score': 0.13}]
chr13 GH13I032837 32837820 32840280 1.11 [{'connected_gene': 'KL', 'score': 10.35}, {'connected_gene': 'PDS5B', 'score': 9.31}, {'connected_gene': 'ENSG00000277151', 'score': 0.22}, {'connected_gene': 'LINC00423', 'score': 0.19}]
chr13 GH13I032590 32590401 32590600 0.38 [{'connected_gene': 'KL', 'score': 9.89}, {'connected_gene': 'PDS5B', 'score': 0.77}, {'connected_gene': 'GC13M032670', 'score': 0.18}]
chr13 GH13I032745 32745504 32747475 0.49 [{'connected_gene': 'KL', 'score': 9.96}, {'connected_gene': 'ENSG00000212293', 'score': 5.94}, {'connected_gene': 'RNY1P4', 'score': 0.37}, {'connected_gene': 'GC13M032764', 'score': 0.37}, {'connected_gene': 'GC13P032716', 'score': 0.29}, {'connected_gene': 'PDS5B', 'score': 0.1}]
chr13 GH13I032731 32731601 32731800 0.49 [{'connected_gene': 'KL', 'score': 10.78}, {'connected_gene': 'ENSG00000212293', 'score': 6.0}, {'connected_gene': 'GC13P032716', 'score': 0.37}, {'connected_gene': 'RNY1P4', 'score': 0.29}, {'connected_gene': 'GC13M032764', 'score': 0.29}, {'connected_gene': 'PDS5B', 'score': 0.11}]
chr13 GH13I032391 32391364 32391433 0.31 [{'connected_gene': 'N4BP2L1', 'score': 11.52}, {'connected_gene': 'PDS5B', 'score': 10.6}, {'connected_gene': 'IFIT1P1', 'score': 0.44}, {'connected_gene': 'ENSG00000212293', 'score': 0.31}, {'connected_gene': 'BRCA2', 'score': 0.18}]
chr13 GH13I032425 32425605 32430537 2.19 [{'connected_gene': 'N4BP2L1', 'score': 550.77}, {'connected_gene': 'ENSG00000212293', 'score': 14.17}, {'connected_gene': 'N4BP2L2', 'score': 10.7}, {'connected_gene': 'PDS5B', 'score': 10.28}, {'connected_gene': 'ENSG00000270008', 'score': 0.77}, {'connected_gene': 'GC13M032672', 'score': 0.44}]
chr13 GH13I033225 33225092 33225701 0.2 [{'connected_gene': 'STARD13', 'score': 15.68}, {'connected_gene': 'STARD13-AS', 'score': 10.33}, {'connected_gene': 'KL', 'score': 9.92}, {'connected_gene': 'PDS5B', 'score': 9.24}, {'connected_gene': 'LINC02344', 'score': 0.14}]
chr13 GH13I032585 32585562 32590025 1.98 [{'connected_gene': 'PDS5B', 'score': 550.77}, {'connected_gene': 'KL', 'score': 9.89}, {'connected_gene': 'ENSG00000212293', 'score': 9.74}, {'connected_gene': 'N4BP2L2', 'score': 5.97}, {'connected_gene': 'GC13M032670', 'score': 0.18}]
chr13 GH13I033032 33032801 33034000 0.8 [{'connected_gene': 'PDS5B', 'score': 9.87}, {'connected_gene': 'KL', 'score': 8.3}, {'connected_gene': 'STARD13-IT1', 'score': 0.12}]
chr13 GH13I033034 33034601 33035600 0.31 [{'connected_gene': 'PDS5B', 'score': 8.75}, {'connected_gene': 'KL', 'score': 0.37}, {'connected_gene': 'STARD13-IT1', 'score': 0.13}]
chr13 GH13I032626 32626001 32626200 0.2 [{'connected_gene': 'PDS5B', 'score': 11.38}, {'connected_gene': 'KL', 'score': 9.61}, {'connected_gene': 'GC13M032670', 'score': 0.26}]
chr13 GH13I032625 32625601 32625800 0.2 [{'connected_gene': 'PDS5B', 'score': 11.38}, {'connected_gene': 'KL', 'score': 9.61}, {'connected_gene': 'GC13M032670', 'score': 0.26}]
chr13 GH13I032650 32650844 32651013 0.72 [{'connected_gene': 'PDS5B', 'score': 11.89}, {'connected_gene': 'KL', 'score': 10.36}, {'connected_gene': 'GC13M032670', 'score': 0.37}]
chr13 GH13I031997 31997411 31998985 0.49 [{'connected_gene': 'PDS5B', 'score': 4.68}, {'connected_gene': 'LINC01073', 'score': 0.39}, {'connected_gene': 'GC13M032710', 'score': 0.31}, {'connected_gene': 'GC13M032673', 'score': 0.31}]
chr13 GH13I032246 32246504 32246800 0.85 [{'connected_gene': 'PDS5B', 'score': 9.14}, {'connected_gene': 'GC13P032297', 'score': 0.23}, {'connected_gene': 'GC13P032060', 'score': 0.09}, {'connected_gene': 'FRY', 'score': 0.08}]
chr13 GH13I032901 32901846 32903632 0.4 [{'connected_gene': 'PDS5B', 'score': 9.78}, {'connected_gene': 'LINC00423', 'score': 0.44}, {'connected_gene': 'ENSG00000277151', 'score': 0.13}]
chr13 GH13I032905 32905388 32907241 0.7 [{'connected_gene': 'PDS5B', 'score': 9.78}, {'connected_gene': 'LINC00423', 'score': 0.44}, {'connected_gene': 'ENSG00000277151', 'score': 0.13}]
chr13 GH13I032723 32723653 32724890 0.2 [{'connected_gene': 'PDS5B', 'score': 10.49}, {'connected_gene': 'ENSG00000212293', 'score': 5.96}, {'connected_gene': 'GC13P032716', 'score': 0.44}, {'connected_gene': 'RNY1P4', 'score': 0.28}, {'connected_gene': 'GC13M032764', 'score': 0.28}]
chr13 GH13I032542 32542233 32542855 0.2 [{'connected_gene': 'PDS5B', 'score': 11.06}, {'connected_gene': 'ATP8A2P2', 'score': 10.65}, {'connected_gene': 'N4BP2L1', 'score': 10.14}, {'connected_gene': 'N4BP2L2', 'score': 0.77}]
chr13 GH13I032647 32647801 32648200 0.2 [{'connected_gene': 'PDS5B', 'score': 11.56}, {'connected_gene': 'ATP8A2P2', 'score': 9.73}, {'connected_gene': 'GC13M032670', 'score': 0.34}]
chr13 GH13I032648 32647401 32647600 0.2 [{'connected_gene': 'PDS5B', 'score': 11.56}, {'connected_gene': 'ATP8A2P2', 'score': 9.73}, {'connected_gene': 'GC13M032670', 'score': 0.34}]
chr13 GH13I032645 32645811 32646248 0.69 [{'connected_gene': 'PDS5B', 'score': 11.57}, {'connected_gene': 'ATP8A2P2', 'score': 9.74}, {'connected_gene': 'GC13M032670', 'score': 0.34}]
chr13 GH13I032639 32639624 32639773 0.62 [{'connected_gene': 'PDS5B', 'score': 12.55}, {'connected_gene': 'GC13M032670', 'score': 0.31}]
chr13 GH13I032471 32471084 32472842 1.02 [{'connected_gene': 'N4BP2L2', 'score': 11.25}, {'connected_gene': 'N4BP2L1', 'score': 11.18}, {'connected_gene': 'ENSG00000212293', 'score': 10.6}, {'connected_gene': 'PDS5B', 'score': 10.26}, {'connected_gene': 'ATP8A2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000270008', 'score': 0.28}]
chr13 GH13I032074 32074801 32075000 0.4 [{'connected_gene': 'FRY', 'score': 11.22}, {'connected_gene': 'FRY-AS1', 'score': 11.22}, {'connected_gene': 'PDS5B', 'score': 9.04}, {'connected_gene': 'GC13P032060', 'score': 0.37}, {'connected_gene': 'GC13P032297', 'score': 0.07}]
chr13 GH13I033222 33222373 33223661 0.46 [{'connected_gene': 'STARD13-AS', 'score': 10.33}, {'connected_gene': 'PDS5B', 'score': 9.24}, {'connected_gene': 'LINC02344', 'score': 0.14}, {'connected_gene': 'STARD13', 'score': 0.05}]
chr13 GH13I033224 33224055 33224963 0.31 [{'connected_gene': 'STARD13-AS', 'score': 10.33}, {'connected_gene': 'PDS5B', 'score': 9.24}, {'connected_gene': 'LINC02344', 'score': 0.14}, {'connected_gene': 'STARD13', 'score': 0.05}]
chr13 GH13I032454 32454904 32455787 0.73 [{'connected_gene': 'ATP8A2P2', 'score': 12.53}, {'connected_gene': 'N4BP2L1', 'score': 11.82}, {'connected_gene': 'N4BP2L2', 'score': 10.39}, {'connected_gene': 'PDS5B', 'score': 10.18}, {'connected_gene': 'ENSG00000270008', 'score': 0.34}]
chr13 GH13I032669 32669124 32669313 0.66 [{'connected_gene': 'GC13M032670', 'score': 550.77}, {'connected_gene': 'GC13P032716', 'score': 0.25}, {'connected_gene': 'PDS5B', 'score': 0.18}]
chr13 GH13I032735 32735587 32738315 0.79 [{'connected_gene': 'GC13P032716', 'score': 0.34}, {'connected_gene': 'RNY1P4', 'score': 0.31}, {'connected_gene': 'GC13M032764', 'score': 0.31}, {'connected_gene': 'PDS5B', 'score': 0.1}]
chr13 GH13I032734 32734600 32734801 0.63 [{'connected_gene': 'GC13P032716', 'score': 0.37}, {'connected_gene': 'RNY1P4', 'score': 0.31}, {'connected_gene': 'GC13M032764', 'score': 0.31}, {'connected_gene': 'PDS5B', 'score': 0.11}]

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