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
ENST00000243903 [[37377084, 37377496], [37378652, 37378882], [37380773, 37380943], [37383599, 37383817], [37384499, 37384682], [37394044, 37394161], [37394880, 37395020], [37396106, 37396239], [37400201, 37400834]] [[37377121, 37377496], [37378652, 37378882], [37380773, 37380943], [37383599, 37383817], [37384499, 37384682], [37394044, 37394161], [37394880, 37395020], [37396106, 37396239], [37400201, 37400459]]
NM_024855 [[37377096, 37377496], [37378652, 37378882], [37380773, 37380943], [37383599, 37383817], [37384499, 37384682], [37394044, 37394161], [37394880, 37395020], [37396106, 37396239], [37400201, 37401089]] [[37377121, 37377496], [37378652, 37378882], [37380773, 37380943], [37383599, 37383817], [37384499, 37384682], [37394044, 37394161], [37394880, 37395020], [37396106, 37396239], [37400201, 37400459]]
Promoter
Chrom Start End Description
chr20 37377090 37377126 CAGE_peak_1_at_ACTR5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I038031 38031919 38035444 2.09 [{'connected_gene': 'TTI1', 'score': 572.81}, {'connected_gene': 'RPRD1B', 'score': 550.77}, {'connected_gene': 'SNHG17', 'score': 44.74}, {'connected_gene': 'SNORA71A', 'score': 32.6}, {'connected_gene': 'ACTR5', 'score': 31.75}, {'connected_gene': 'RALGAPB', 'score': 23.97}, {'connected_gene': 'SNORA71C', 'score': 22.62}, {'connected_gene': 'RN7SKP173', 'score': 21.11}, {'connected_gene': 'RPN2', 'score': 21.1}, {'connected_gene': 'RPS3P2', 'score': 20.55}, {'connected_gene': 'VSTM2L', 'score': 15.73}, {'connected_gene': 'RBL1', 'score': 11.63}, {'connected_gene': 'CTNNBL1', 'score': 10.56}, {'connected_gene': 'GC20M038052', 'score': 0.37}]
chr20 GH20I038925 38925678 38930471 2.28 [{'connected_gene': 'FAM83D', 'score': 569.48}, {'connected_gene': 'SNHG17', 'score': 25.98}, {'connected_gene': 'ACTR5', 'score': 21.73}, {'connected_gene': 'SNORA60', 'score': 21.41}, {'connected_gene': 'SNORA71A', 'score': 21.13}, {'connected_gene': 'RALGAPB', 'score': 13.58}, {'connected_gene': 'SNHG11', 'score': 12.43}, {'connected_gene': 'TTI1', 'score': 12.24}, {'connected_gene': 'RPS3P2', 'score': 11.71}, {'connected_gene': 'RN7SKP173', 'score': 10.73}, {'connected_gene': 'SNORA71C', 'score': 10.37}, {'connected_gene': 'DHX35', 'score': 9.43}, {'connected_gene': 'GC20M038952', 'score': 0.31}]
chr20 GH20I038895 38895586 38897147 0.46 [{'connected_gene': 'FAM83D', 'score': 20.62}, {'connected_gene': 'SNHG17', 'score': 18.62}, {'connected_gene': 'SNORA71A', 'score': 15.84}, {'connected_gene': 'SNORA71C', 'score': 15.6}, {'connected_gene': 'RALGAPB', 'score': 13.9}, {'connected_gene': 'RPS3P2', 'score': 12.14}, {'connected_gene': 'RN7SKP173', 'score': 11.62}, {'connected_gene': 'TTI1', 'score': 11.3}, {'connected_gene': 'ACTR5', 'score': 10.56}, {'connected_gene': 'DHX35', 'score': 9.13}, {'connected_gene': 'GC20M038907', 'score': 0.37}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.16}]
chr20 GH20I038888 38887178 38887409 0.55 [{'connected_gene': 'FAM83D', 'score': 11.56}, {'connected_gene': 'PPP1R16B', 'score': 3.75}, {'connected_gene': 'ACTR5', 'score': 1.96}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.31}]
chr20 GH20I038825 38825658 38827067 1.19 [{'connected_gene': 'ACTR5', 'score': 19.49}, {'connected_gene': 'FAM83D', 'score': 12.57}, {'connected_gene': 'PPP1R16B', 'score': 0.34}, {'connected_gene': 'RN7SL116P', 'score': 0.25}]
chr20 GH20I038853 38853694 38855267 0.93 [{'connected_gene': 'ACTR5', 'score': 20.25}, {'connected_gene': 'RALGAPB', 'score': 9.94}, {'connected_gene': 'RN7SKP173', 'score': 9.93}, {'connected_gene': 'SNHG17', 'score': 4.16}, {'connected_gene': 'RN7SL116P', 'score': 0.37}, {'connected_gene': 'PPP1R16B', 'score': 0.25}]
chr20 GH20I038789 38789118 38790143 0.56 [{'connected_gene': 'ACTR5', 'score': 34.83}, {'connected_gene': 'ARHGAP40', 'score': 6.45}, {'connected_gene': 'GC20P038783', 'score': 0.44}, {'connected_gene': 'PPP1R16B', 'score': 0.37}]
chr20 GH20I039122 39122458 39122567 0.2 [{'connected_gene': 'ACTR5', 'score': 4.45}, {'connected_gene': 'PIR38411', 'score': 0.23}, {'connected_gene': 'LINC01734', 'score': 0.15}]
chr20 GH20I038839 38839803 38846003 1.52 [{'connected_gene': 'ACTR5', 'score': 20.64}, {'connected_gene': 'PPP1R16B', 'score': 10.25}, {'connected_gene': 'RALGAPB', 'score': 2.04}, {'connected_gene': 'DHX35', 'score': 1.71}, {'connected_gene': 'RN7SL116P', 'score': 0.31}]
chr20 GH20I038834 38834745 38837435 0.59 [{'connected_gene': 'ACTR5', 'score': 18.28}, {'connected_gene': 'PPP1R16B', 'score': 0.29}, {'connected_gene': 'RN7SL116P', 'score': 0.28}]
chr20 GH20I038815 38815238 38817476 0.31 [{'connected_gene': 'ACTR5', 'score': 12.5}, {'connected_gene': 'PPP1R16B', 'score': 0.39}, {'connected_gene': 'RN7SL116P', 'score': 0.22}]
chr20 GH20I038837 38837682 38839086 0.38 [{'connected_gene': 'ACTR5', 'score': 19.31}, {'connected_gene': 'PPP1R16B', 'score': 0.29}, {'connected_gene': 'RN7SL116P', 'score': 0.29}]
chr20 GH20I038830 38830443 38832711 0.65 [{'connected_gene': 'ACTR5', 'score': 17.47}, {'connected_gene': 'PPP1R16B', 'score': 0.31}, {'connected_gene': 'RN7SL116P', 'score': 0.26}]
chr20 GH20I038827 38827365 38830275 1.03 [{'connected_gene': 'ACTR5', 'score': 19.48}, {'connected_gene': 'PPP1R16B', 'score': 0.34}, {'connected_gene': 'RN7SL116P', 'score': 0.26}]
chr20 GH20I038823 38823931 38824853 0.2 [{'connected_gene': 'ACTR5', 'score': 17.14}, {'connected_gene': 'PPP1R16B', 'score': 0.37}, {'connected_gene': 'RN7SL116P', 'score': 0.25}]
chr20 GH20I038790 38790538 38790707 0.64 [{'connected_gene': 'ACTR5', 'score': 35.09}, {'connected_gene': 'GC20P038783', 'score': 0.44}, {'connected_gene': 'PPP1R16B', 'score': 0.37}]
chr20 GH20I038811 38811401 38813202 0.94 [{'connected_gene': 'ACTR5', 'score': 23.09}, {'connected_gene': 'SNHG11', 'score': 13.71}, {'connected_gene': 'SNHG17', 'score': 13.63}, {'connected_gene': 'SNORA71C', 'score': 10.02}, {'connected_gene': 'ARHGAP40', 'score': 6.46}, {'connected_gene': 'PPP1R16B', 'score': 0.44}, {'connected_gene': 'RN7SL116P', 'score': 0.21}]
chr20 GH20I038764 38764232 38765730 0.85 [{'connected_gene': 'ACTR5', 'score': 14.54}, {'connected_gene': 'RN7SKP173', 'score': 0.77}, {'connected_gene': 'GC20P038776', 'score': 0.39}]
chr20 GH20I038848 38848965 38850770 0.43 [{'connected_gene': 'ACTR5', 'score': 12.57}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.26}]
chr20 GH20I038855 38855400 38855800 0.58 [{'connected_gene': 'ACTR5', 'score': 10.66}, {'connected_gene': 'RN7SL116P', 'score': 0.37}, {'connected_gene': 'PPP1R16B', 'score': 0.25}]
chr20 GH20I038751 38751458 38751607 0.64 [{'connected_gene': 'ACTR5', 'score': 31.48}, {'connected_gene': 'GC20P038762', 'score': 0.44}]
chr20 GH20I038747 38747460 38749508 2.01 [{'connected_gene': 'ACTR5', 'score': 584.09}, {'connected_gene': 'GC20P038762', 'score': 0.39}]
chr20 GH20I038252 38252128 38256642 0.83 [{'connected_gene': 'TGM2', 'score': 15.57}, {'connected_gene': 'ACTR5', 'score': 15.3}, {'connected_gene': 'RN7SKP173', 'score': 14.41}, {'connected_gene': 'RALGAPB', 'score': 13.13}, {'connected_gene': 'TTI1', 'score': 11.88}, {'connected_gene': 'SNHG17', 'score': 11.8}, {'connected_gene': 'ENSG00000206249', 'score': 10.89}, {'connected_gene': 'DHX35', 'score': 9.87}, {'connected_gene': 'KIAA1755', 'score': 4.86}, {'connected_gene': 'BPI', 'score': 0.44}, {'connected_gene': 'ENSG00000277829', 'score': 0.34}]
chr20 GH20I038139 38139192 38172788 2.82 [{'connected_gene': 'TGM2', 'score': 560.76}, {'connected_gene': 'SNHG17', 'score': 55.75}, {'connected_gene': 'RALGAPB', 'score': 54.9}, {'connected_gene': 'ACTR5', 'score': 45.2}, {'connected_gene': 'RN7SKP173', 'score': 43.88}, {'connected_gene': 'SNORA71A', 'score': 42.54}, {'connected_gene': 'TTI1', 'score': 42.42}, {'connected_gene': 'SNORA71C', 'score': 32.89}, {'connected_gene': 'RPN2', 'score': 31.81}, {'connected_gene': 'DHX35', 'score': 22.63}, {'connected_gene': 'CTNNBL1', 'score': 22.23}, {'connected_gene': 'ENSG00000224635', 'score': 21.06}, {'connected_gene': 'RPS3P2', 'score': 20.57}, {'connected_gene': 'RPRD1B', 'score': 12.16}, {'connected_gene': 'SNORA60', 'score': 11.33}, {'connected_gene': 'SNORA71B', 'score': 9.79}, {'connected_gene': 'VSTM2L', 'score': 9.76}, {'connected_gene': 'BPI', 'score': 7.69}, {'connected_gene': 'ENSG00000277550', 'score': 0.23}]
chr20 GH20I038446 38446038 38448880 1.62 [{'connected_gene': 'SNORA71E', 'score': 550.77}, {'connected_gene': 'GC20P038453', 'score': 550.77}, {'connected_gene': 'GC20P038450', 'score': 550.77}, {'connected_gene': 'GC20P038461', 'score': 550.77}, {'connected_gene': 'GC20P038462', 'score': 550.77}, {'connected_gene': 'SNHG11', 'score': 550.77}, {'connected_gene': 'SNORA60', 'score': 550.77}, {'connected_gene': 'SNHG17', 'score': 46.38}, {'connected_gene': 'ACTR5', 'score': 21.12}, {'connected_gene': 'RALGAPB', 'score': 16.04}, {'connected_gene': 'RN7SKP173', 'score': 12.39}, {'connected_gene': 'TTI1', 'score': 11.9}, {'connected_gene': 'CTNNBL1', 'score': 11.78}, {'connected_gene': 'SNORA71A', 'score': 11.33}, {'connected_gene': 'SNORA71C', 'score': 10.98}, {'connected_gene': 'ENSG00000224635', 'score': 10.26}, {'connected_gene': 'RPS3P2', 'score': 10.15}]
chr20 GH20I038960 38960895 38963401 2.28 [{'connected_gene': 'DHX35', 'score': 579.55}, {'connected_gene': 'ENSG00000277581', 'score': 550.77}, {'connected_gene': 'ENSG00000261431', 'score': 550.77}, {'connected_gene': 'RALGAPB', 'score': 34.94}, {'connected_gene': 'FAM83D', 'score': 28.89}, {'connected_gene': 'SNHG17', 'score': 27.25}, {'connected_gene': 'SNORA71C', 'score': 21.97}, {'connected_gene': 'RN7SKP173', 'score': 20.42}, {'connected_gene': 'ACTR5', 'score': 20.37}, {'connected_gene': 'TTI1', 'score': 20.29}, {'connected_gene': 'SNORA71A', 'score': 13.01}, {'connected_gene': 'RPS3P2', 'score': 11.71}, {'connected_gene': 'SNORA60', 'score': 10.63}]
chr20 GH20I038277 38277719 38279106 0.63 [{'connected_gene': 'RALGAPB', 'score': 13.61}, {'connected_gene': 'ACTR5', 'score': 13.24}, {'connected_gene': 'SNHG11', 'score': 12.7}, {'connected_gene': 'TTI1', 'score': 11.96}, {'connected_gene': 'SNHG17', 'score': 10.61}, {'connected_gene': 'ENSG00000224635', 'score': 9.76}, {'connected_gene': 'GC20P038267', 'score': 0.39}, {'connected_gene': 'BPI', 'score': 0.37}, {'connected_gene': 'LOC149684', 'score': 0.37}, {'connected_gene': 'GC20P038303', 'score': 0.31}]
chr20 GH20I038730 38730387 38731898 1.17 [{'connected_gene': 'SNHG17', 'score': 29.34}, {'connected_gene': 'ACTR5', 'score': 15.69}, {'connected_gene': 'SNORA71C', 'score': 14.05}, {'connected_gene': 'SNORA71A', 'score': 13.33}, {'connected_gene': 'RN7SKP173', 'score': 12.48}, {'connected_gene': 'RALGAPB', 'score': 12.23}, {'connected_gene': 'TTI1', 'score': 11.59}, {'connected_gene': 'RPS3P2', 'score': 10.66}, {'connected_gene': 'DHX35', 'score': 10.09}, {'connected_gene': 'ARHGAP40', 'score': 4.58}, {'connected_gene': 'SLC32A1', 'score': 0.44}]
chr20 GH20I038433 38433357 38436279 1.65 [{'connected_gene': 'SNHG17', 'score': 699.98}, {'connected_gene': 'GC20M038434', 'score': 550.77}, {'connected_gene': 'GC20M038437', 'score': 550.77}, {'connected_gene': 'SNORA71D', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 73.9}, {'connected_gene': 'RALGAPB', 'score': 67.66}, {'connected_gene': 'ENSG00000224635', 'score': 53.99}, {'connected_gene': 'TTI1', 'score': 42.23}, {'connected_gene': 'SNORA71A', 'score': 42.19}, {'connected_gene': 'SNORA71C', 'score': 31.85}, {'connected_gene': 'RN7SKP173', 'score': 31.68}, {'connected_gene': 'RPS3P2', 'score': 28.92}, {'connected_gene': 'SNHG11', 'score': 22.83}, {'connected_gene': 'CTNNBL1', 'score': 20.56}]
chr20 GH20I038112 38112131 38112531 0.85 [{'connected_gene': 'SNHG17', 'score': 18.63}, {'connected_gene': 'SNORA71A', 'score': 15.85}, {'connected_gene': 'SNORA71C', 'score': 15.61}, {'connected_gene': 'RALGAPB', 'score': 13.9}, {'connected_gene': 'VSTM2L', 'score': 13.13}, {'connected_gene': 'RPN2', 'score': 12.36}, {'connected_gene': 'RPS3P2', 'score': 12.13}, {'connected_gene': 'TGM2', 'score': 11.7}, {'connected_gene': 'RN7SKP173', 'score': 11.53}, {'connected_gene': 'TTI1', 'score': 11.46}, {'connected_gene': 'ACTR5', 'score': 10.48}, {'connected_gene': 'RPRD1B', 'score': 7.24}, {'connected_gene': 'ENSG00000277550', 'score': 0.44}]
chr20 GH20I038091 38091060 38096528 1.72 [{'connected_gene': 'SNHG17', 'score': 15.58}, {'connected_gene': 'VSTM2L', 'score': 14.46}, {'connected_gene': 'RALGAPB', 'score': 14.01}, {'connected_gene': 'SNORA71C', 'score': 13.41}, {'connected_gene': 'RN7SKP173', 'score': 11.45}, {'connected_gene': 'ACTR5', 'score': 11.14}, {'connected_gene': 'RPRD1B', 'score': 10.92}, {'connected_gene': 'RBL1', 'score': 10.47}, {'connected_gene': 'DHX35', 'score': 10.4}, {'connected_gene': 'TTI1', 'score': 9.97}, {'connected_gene': 'BPI', 'score': 7.48}, {'connected_gene': 'CTNNBL1', 'score': 1.89}, {'connected_gene': 'GC20P038089', 'score': 0.77}, {'connected_gene': 'RN7SL237P', 'score': 0.77}]
chr20 GH20I038673 38673601 38675040 1.36 [{'connected_gene': 'ARHGAP40', 'score': 6.1}, {'connected_gene': 'KIAA1755', 'score': 5.05}, {'connected_gene': 'ACTR5', 'score': 1.58}, {'connected_gene': 'SLC32A1', 'score': 1.47}, {'connected_gene': 'PIR44827', 'score': 0.34}, {'connected_gene': 'GC20M038618', 'score': 0.22}]
chr20 GH20I038860 38860387 38865200 1.63 [{'connected_gene': 'PPP1R16B', 'score': 14.63}, {'connected_gene': 'ACTR5', 'score': 6.56}, {'connected_gene': 'DHX35', 'score': 2.3}, {'connected_gene': 'RALGAPB', 'score': 2.28}, {'connected_gene': 'RN7SL116P', 'score': 0.44}]
chr20 GH20I038803 38803443 38809744 2.65 [{'connected_gene': 'PPP1R16B', 'score': 573.96}, {'connected_gene': 'ACTR5', 'score': 21.72}, {'connected_gene': 'ARHGAP40', 'score': 6.14}, {'connected_gene': 'RALGAPB', 'score': 3.17}, {'connected_gene': 'DHX35', 'score': 2.89}, {'connected_gene': 'RN7SL116P', 'score': 0.2}]
chr20 GH20I038856 38856246 38856557 0.61 [{'connected_gene': 'PPP1R16B', 'score': 4.2}, {'connected_gene': 'ACTR5', 'score': 1.9}, {'connected_gene': 'SLC32A1', 'score': 1.35}, {'connected_gene': 'RN7SL116P', 'score': 0.37}]
chr20 GH20I038885 38884236 38884488 0.88 [{'connected_gene': 'PPP1R16B', 'score': 5.06}, {'connected_gene': 'ACTR5', 'score': 1.7}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.29}]
chr20 GH20I038724 38724437 38724496 0.93 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038729 38729418 38729527 0.54 [{'connected_gene': 'SLC32A1', 'score': 0.44}, {'connected_gene': 'ACTR5', 'score': 0.37}]
chr20 GH20I038728 38727298 38727467 0.65 [{'connected_gene': 'SLC32A1', 'score': 0.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038727 38727618 38727727 0.54 [{'connected_gene': 'SLC32A1', 'score': 0.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038726 38725978 38726127 0.57 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038731 38728298 38728367 0.46 [{'connected_gene': 'SLC32A1', 'score': 0.77}, {'connected_gene': 'ACTR5', 'score': 0.37}]
chr20 GH20I038725 38725458 38725467 0.59 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038732 38725318 38725427 0.66 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038733 38725518 38725607 0.54 [{'connected_gene': 'SLC32A1', 'score': 550.77}, {'connected_gene': 'GC20P038725', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 0.34}]
chr20 GH20I038870 38870237 38877393 1.62 [{'connected_gene': 'RN7SL116P', 'score': 550.77}, {'connected_gene': 'PPP1R16B', 'score': 15.12}, {'connected_gene': 'FAM83D', 'score': 10.94}, {'connected_gene': 'ACTR5', 'score': 6.27}, {'connected_gene': 'SLC32A1', 'score': 2.79}, {'connected_gene': 'DHX35', 'score': 2.26}, {'connected_gene': 'RALGAPB', 'score': 2.09}, {'connected_gene': 'GC20M038907', 'score': 0.26}]
chr20 GH20I038778 38778553 38780545 0.77 [{'connected_gene': 'GC20P038778', 'score': 550.77}, {'connected_gene': 'GC20P038777', 'score': 550.77}, {'connected_gene': 'ACTR5', 'score': 35.1}, {'connected_gene': 'GC20P038783', 'score': 0.77}]
chr20 GH20I038356 38356427 38356576 0.9 [{'connected_gene': 'GC20P038354', 'score': 550.77}, {'connected_gene': 'RALGAPB', 'score': 40.33}, {'connected_gene': 'SNHG17', 'score': 39.74}, {'connected_gene': 'RN7SKP173', 'score': 36.03}, {'connected_gene': 'DHX35', 'score': 31.44}, {'connected_gene': 'ACTR5', 'score': 29.25}, {'connected_gene': 'SNORA71C', 'score': 22.09}, {'connected_gene': 'SNORA71A', 'score': 21.18}, {'connected_gene': 'CTNNBL1', 'score': 13.81}, {'connected_gene': 'ENSG00000206249', 'score': 11.86}, {'connected_gene': 'ENSG00000224635', 'score': 11.15}, {'connected_gene': 'SNORA71B', 'score': 11.14}, {'connected_gene': 'SNORA60', 'score': 10.75}, {'connected_gene': 'BPI', 'score': 5.49}, {'connected_gene': 'LBP', 'score': 0.39}, {'connected_gene': 'ENSG00000275285', 'score': 0.34}]

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