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
ENST00000223273 [[39605974, 39606146], [39610104, 39610226], [39611875, 39612480]] [[39606017, 39606146], [39610104, 39610226], [39611875, 39612305]]
ENST00000474392 [[39605983, 39606146], [39610104, 39610601]] None
ENST00000448268 [[39605992, 39606146], [39610104, 39610226], [39611952, 39612101]] [[39606017, 39606146], [39610104, 39610226], [39611952, 39611965]]
ENST00000432096 [[39606004, 39606146], [39610104, 39610226], [39649215, 39649919]] [[39606017, 39606146], [39610104, 39610226], [39649215, 39649585]]
ENST00000469737 [[39606291, 39606630], [39610104, 39610179]] None
ENST00000485025 [[39609852, 39610226], [39611875, 39612171]] None
NM_020192 [[39605974, 39606146], [39610104, 39610226], [39611875, 39612480]] [[39606017, 39606146], [39610104, 39610226], [39611875, 39612305]]
NM_001282446 [[39605974, 39606146], [39610104, 39610226], [39649215, 39651688]] [[39606017, 39606146], [39610104, 39610226], [39649215, 39649585]]
Promoter
Chrom Start End Description
chr7 39605914 39605919 CAGE_peak_3_at_YAE1D1_5end
chr7 39605966 39606021 CAGE_peak_1_at_YAE1D1_5end
chr7 39606026 39606045 CAGE_peak_2_at_YAE1D1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I039591 39591984 39593864 1.34 [{'connected_gene': 'CDK13', 'score': 14.03}, {'connected_gene': 'MPLKIP', 'score': 12.37}, {'connected_gene': 'LINC00265', 'score': 9.78}, {'connected_gene': 'RALA', 'score': 8.87}, {'connected_gene': 'GC07P039582', 'score': 0.39}, {'connected_gene': 'GC07P039609', 'score': 0.37}, {'connected_gene': 'YAE1D1', 'score': 0.31}]
chr7 GH07I039742 39742087 39742858 0.85 [{'connected_gene': 'RALA', 'score': 11.89}, {'connected_gene': 'YAE1D1', 'score': 11.18}, {'connected_gene': 'LOC105375240', 'score': 11.18}, {'connected_gene': 'LINC00265', 'score': 10.67}, {'connected_gene': 'RNU6-719P', 'score': 0.31}]
chr7 GH07I039750 39750362 39750511 0.68 [{'connected_gene': 'RALA', 'score': 10.62}, {'connected_gene': 'YAE1D1', 'score': 9.92}, {'connected_gene': 'LOC105375240', 'score': 9.92}, {'connected_gene': 'LINC00265', 'score': 0.37}, {'connected_gene': 'RNU6-719P', 'score': 0.37}]
chr7 GH07I039751 39750545 39750980 0.68 [{'connected_gene': 'RALA', 'score': 10.62}, {'connected_gene': 'YAE1D1', 'score': 9.92}, {'connected_gene': 'LOC105375240', 'score': 9.92}, {'connected_gene': 'LINC00265', 'score': 0.37}, {'connected_gene': 'RNU6-719P', 'score': 0.37}]
chr7 GH07I039749 39749302 39749838 0.63 [{'connected_gene': 'RALA', 'score': 11.39}, {'connected_gene': 'YAE1D1', 'score': 11.04}, {'connected_gene': 'LOC105375240', 'score': 11.04}, {'connected_gene': 'LINC00265', 'score': 0.37}, {'connected_gene': 'RNU6-719P', 'score': 0.37}]
chr7 GH07I039745 39745649 39747449 0.95 [{'connected_gene': 'RALA', 'score': 11.69}, {'connected_gene': 'YAE1D1', 'score': 11.19}, {'connected_gene': 'LOC105375240', 'score': 11.19}, {'connected_gene': 'LINC00265', 'score': 6.95}, {'connected_gene': 'RNU6-719P', 'score': 0.34}]
chr7 GH07I039588 39588159 39591441 1.69 [{'connected_gene': 'RALA', 'score': 22.6}, {'connected_gene': 'YAE1D1', 'score': 11.64}, {'connected_gene': 'LOC105375240', 'score': 11.64}, {'connected_gene': 'LINC00265', 'score': 4.09}, {'connected_gene': 'GC07P039582', 'score': 0.44}, {'connected_gene': 'GC07P039609', 'score': 0.37}]
chr7 GH07I039727 39727401 39727600 0.2 [{'connected_gene': 'RALA', 'score': 11.8}, {'connected_gene': 'YAE1D1', 'score': 9.8}, {'connected_gene': 'LOC105375240', 'score': 9.8}, {'connected_gene': 'LINC00265', 'score': 0.44}, {'connected_gene': 'ENSG00000228554', 'score': 0.34}]
chr7 GH07I039723 39723582 39723731 0.2 [{'connected_gene': 'RALA', 'score': 10.72}, {'connected_gene': 'YAE1D1', 'score': 10.25}, {'connected_gene': 'LOC105375240', 'score': 10.25}, {'connected_gene': 'LINC00265', 'score': 0.44}, {'connected_gene': 'ENSG00000228554', 'score': 0.34}]
chr7 GH07I039708 39708897 39710724 0.66 [{'connected_gene': 'RALA', 'score': 11.23}, {'connected_gene': 'YAE1D1', 'score': 9.94}, {'connected_gene': 'LOC105375240', 'score': 9.94}, {'connected_gene': 'LINC00265', 'score': 7.22}, {'connected_gene': 'ENSG00000228554', 'score': 0.44}]
chr7 GH07I039604 39604128 39606671 0.9 [{'connected_gene': 'RALA', 'score': 12.1}, {'connected_gene': 'YAE1D1', 'score': 10.96}, {'connected_gene': 'LOC105375240', 'score': 10.96}, {'connected_gene': 'GC07P039609', 'score': 0.77}, {'connected_gene': 'GC07P039582', 'score': 0.34}]
chr7 GH07I039666 39666682 39666831 0.31 [{'connected_gene': 'RALA', 'score': 12.45}, {'connected_gene': 'ENSG00000231951', 'score': 12.35}, {'connected_gene': 'YAE1D1', 'score': 10.13}, {'connected_gene': 'LOC105375240', 'score': 10.13}, {'connected_gene': 'GC07M039668', 'score': 0.37}]
chr7 GH07I039682 39682318 39682517 0.2 [{'connected_gene': 'RALA', 'score': 12.21}, {'connected_gene': 'ENSG00000231951', 'score': 11.6}, {'connected_gene': 'YAE1D1', 'score': 10.49}, {'connected_gene': 'LOC105375240', 'score': 10.49}, {'connected_gene': 'GC07M039668', 'score': 0.77}]
chr7 GH07I039667 39667347 39667753 0.38 [{'connected_gene': 'RALA', 'score': 12.45}, {'connected_gene': 'ENSG00000231951', 'score': 12.35}, {'connected_gene': 'YAE1D1', 'score': 10.13}, {'connected_gene': 'LOC105375240', 'score': 10.13}, {'connected_gene': 'GC07M039668', 'score': 0.37}]
chr7 GH07I039580 39580201 39581000 1.11 [{'connected_gene': 'RALA', 'score': 11.85}, {'connected_gene': 'LINC00265', 'score': 5.25}, {'connected_gene': 'GC07P039582', 'score': 0.77}, {'connected_gene': 'LOC100101126', 'score': 0.39}, {'connected_gene': 'YAE1D1', 'score': 0.39}]
chr7 GH07I039565 39565514 39567409 2.04 [{'connected_gene': 'YAE1D1', 'score': 550.77}, {'connected_gene': 'LOC105375240', 'score': 550.77}, {'connected_gene': 'CDK13', 'score': 11.93}, {'connected_gene': 'MPLKIP', 'score': 11.16}, {'connected_gene': 'RALA', 'score': 10.88}, {'connected_gene': 'LINC00265', 'score': 5.66}, {'connected_gene': 'GC07M039569', 'score': 0.77}]
chr7 GH07I039602 39602392 39602619 0.27 [{'connected_gene': 'YAE1D1', 'score': 10.4}, {'connected_gene': 'LOC105375240', 'score': 10.4}, {'connected_gene': 'RALA', 'score': 4.39}, {'connected_gene': 'GC07P039609', 'score': 0.44}, {'connected_gene': 'GC07P039582', 'score': 0.37}]
chr7 GH07I039613 39613154 39614766 1.09 [{'connected_gene': 'YAE1D1', 'score': 10.28}, {'connected_gene': 'LOC105375240', 'score': 10.28}, {'connected_gene': 'RALA', 'score': 5.92}, {'connected_gene': 'GC07P039617', 'score': 0.77}, {'connected_gene': 'ENSG00000231951', 'score': 0.77}]
chr7 GH07I039698 39698962 39699111 0.2 [{'connected_gene': 'YAE1D1', 'score': 10.11}, {'connected_gene': 'LOC105375240', 'score': 10.11}, {'connected_gene': 'ENSG00000228554', 'score': 0.77}, {'connected_gene': 'GC07M039668', 'score': 0.39}, {'connected_gene': 'RALA', 'score': 0.18}]
chr7 GH07I039529 39529265 39531865 0.2 [{'connected_gene': 'YAE1D1', 'score': 11.24}, {'connected_gene': 'LOC105375240', 'score': 11.24}, {'connected_gene': 'LINC00265', 'score': 5.06}, {'connected_gene': 'LOC105375237', 'score': 0.44}]
chr7 GH07I039720 39719459 39719511 0.2 [{'connected_gene': 'YAE1D1', 'score': 9.79}, {'connected_gene': 'LOC105375240', 'score': 9.79}, {'connected_gene': 'LINC00265', 'score': 0.39}, {'connected_gene': 'ENSG00000228554', 'score': 0.37}]
chr7 GH07I039937 39937513 39937989 0.2 [{'connected_gene': 'YAE1D1', 'score': 9.54}, {'connected_gene': 'LOC105375240', 'score': 9.54}, {'connected_gene': 'ENSG00000259826', 'score': 0.39}, {'connected_gene': 'RN7SL496P', 'score': 0.25}, {'connected_gene': 'GC07P039903', 'score': 0.25}, {'connected_gene': 'GC07M039837', 'score': 0.11}]
chr7 GH07I039532 39532949 39536432 0.43 [{'connected_gene': 'YAE1D1', 'score': 11.74}, {'connected_gene': 'LOC105375240', 'score': 11.74}, {'connected_gene': 'LOC105375237', 'score': 0.39}]
chr7 GH07I039540 39540462 39540611 0.72 [{'connected_gene': 'YAE1D1', 'score': 12.39}, {'connected_gene': 'LOC105375240', 'score': 12.39}, {'connected_gene': 'LOC105375237', 'score': 0.37}]
chr7 GH07I039398 39398474 39398839 0.22 [{'connected_gene': 'YAE1D1', 'score': 9.89}, {'connected_gene': 'LOC105375240', 'score': 9.89}, {'connected_gene': 'POU6F2-AS1', 'score': 0.44}, {'connected_gene': 'GC07P039374', 'score': 0.34}, {'connected_gene': 'POU6F2', 'score': 0.05}]
chr7 GH07I039073 39073503 39074192 0.2 [{'connected_gene': 'YAE1D1', 'score': 5.48}, {'connected_gene': 'POU6F2-AS2', 'score': 0.21}, {'connected_gene': 'GC07P039163', 'score': 0.17}, {'connected_gene': 'POU6F2', 'score': 0.15}]
chr7 GH07I039719 39719542 39722172 1.03 [{'connected_gene': 'LINC00265', 'score': 22.44}, {'connected_gene': 'CDK13', 'score': 11.95}, {'connected_gene': 'MPLKIP', 'score': 11.18}, {'connected_gene': 'RALA', 'score': 10.95}, {'connected_gene': 'YAE1D1', 'score': 10.25}, {'connected_gene': 'LOC105375240', 'score': 10.25}, {'connected_gene': 'ENSG00000228554', 'score': 0.37}]
chr7 GH07I039732 39732280 39736111 2 [{'connected_gene': 'LINC00265', 'score': 580.7}, {'connected_gene': 'CDK13', 'score': 37.02}, {'connected_gene': 'CICP22', 'score': 24.26}, {'connected_gene': 'ENSG00000228554', 'score': 19.91}, {'connected_gene': 'RALA', 'score': 13.95}, {'connected_gene': 'YAE1D1', 'score': 11.31}, {'connected_gene': 'LOC105375240', 'score': 11.31}, {'connected_gene': 'MPLKIP', 'score': 9.88}, {'connected_gene': 'RNU6-719P', 'score': 0.29}]
chr7 GH07I039594 39594507 39595969 0.69 [{'connected_gene': 'LINC00265', 'score': 14.36}, {'connected_gene': 'RALA', 'score': 5.11}, {'connected_gene': 'GC07P039582', 'score': 0.39}, {'connected_gene': 'GC07P039609', 'score': 0.39}, {'connected_gene': 'YAE1D1', 'score': 0.31}]
chr7 GH07I039753 39753787 39756026 0.76 [{'connected_gene': 'LINC00265', 'score': 16.67}, {'connected_gene': 'RALA', 'score': 10.69}, {'connected_gene': 'CICP22', 'score': 10.65}, {'connected_gene': 'YAE1D1', 'score': 10.61}, {'connected_gene': 'LOC105375240', 'score': 10.61}, {'connected_gene': 'CDK13', 'score': 10.42}, {'connected_gene': 'RNU6-719P', 'score': 0.39}]
chr7 GH07I039465 39465082 39465251 0.78 [{'connected_gene': 'VPS41', 'score': 9.92}, {'connected_gene': 'YAE1D1', 'score': 9.89}, {'connected_gene': 'LOC105375240', 'score': 9.89}, {'connected_gene': 'FAM183BP', 'score': 4.4}, {'connected_gene': 'LOC105375238', 'score': 0.44}, {'connected_gene': 'POU6F2-AS1', 'score': 0.22}, {'connected_gene': 'POU6F2', 'score': 0.04}]
chr7 GH07I038797 38797021 38797170 0.56 [{'connected_gene': 'VPS41', 'score': 10.25}, {'connected_gene': 'YAE1D1', 'score': 10.04}, {'connected_gene': 'LOC105375240', 'score': 10.04}, {'connected_gene': 'FAM183BP', 'score': 9.47}, {'connected_gene': 'GC07M038790', 'score': 0.77}, {'connected_gene': 'GC07P038849', 'score': 0.23}, {'connected_gene': 'GC07P038746', 'score': 0.23}]
chr7 GH07I038846 38846341 38846530 0.74 [{'connected_gene': 'VPS41', 'score': 12.96}, {'connected_gene': 'YAE1D1', 'score': 9.45}, {'connected_gene': 'LOC105375240', 'score': 9.45}, {'connected_gene': 'GC07P038849', 'score': 0.77}, {'connected_gene': 'GC07M038790', 'score': 0.23}, {'connected_gene': 'GC07P038746', 'score': 0.15}]
chr7 GH07I038840 38840635 38842034 0.63 [{'connected_gene': 'VPS41', 'score': 9.86}, {'connected_gene': 'YAE1D1', 'score': 9.45}, {'connected_gene': 'LOC105375240', 'score': 9.45}, {'connected_gene': 'GC07P038849', 'score': 0.44}, {'connected_gene': 'GC07M038790', 'score': 0.25}, {'connected_gene': 'GC07P038746', 'score': 0.16}]
chr7 GH07I040132 40132988 40135800 2.1 [{'connected_gene': 'MPLKIP', 'score': 578.85}, {'connected_gene': 'GC07P040132', 'score': 550.77}, {'connected_gene': 'SUGCT', 'score': 550.77}, {'connected_gene': 'CDK13', 'score': 67.56}, {'connected_gene': 'CICP22', 'score': 36.82}, {'connected_gene': 'ENSG00000228554', 'score': 28.94}, {'connected_gene': 'ENSG00000259826', 'score': 12.63}, {'connected_gene': 'LINC00265', 'score': 12.54}, {'connected_gene': 'LOC100101126', 'score': 11.74}, {'connected_gene': 'YAE1D1', 'score': 11.22}]
chr7 GH07I039887 39887802 39889307 0.46 [{'connected_gene': 'RN7SL496P', 'score': 550.77}, {'connected_gene': 'GC07P039903', 'score': 550.77}, {'connected_gene': 'YAE1D1', 'score': 9.76}, {'connected_gene': 'LOC105375240', 'score': 9.76}, {'connected_gene': 'ENSG00000259826', 'score': 0.21}, {'connected_gene': 'LOC101928688', 'score': 0.19}, {'connected_gene': 'GC07M039837', 'score': 0.08}]
chr7 GH07I040296 40296781 40300545 0.74 [{'connected_gene': 'LOC105375245', 'score': 550.77}, {'connected_gene': 'YAE1D1', 'score': 21.48}, {'connected_gene': 'GC07P040323', 'score': 0.34}, {'connected_gene': 'SUGCT', 'score': 0.1}]
chr7 GH07I039520 39520002 39521097 0.69 [{'connected_gene': 'LOC105375237', 'score': 550.77}, {'connected_gene': 'YAE1D1', 'score': 11.16}, {'connected_gene': 'LOC105375240', 'score': 11.16}, {'connected_gene': 'GC07P039498', 'score': 0.34}]
chr7 GH07I039458 39458401 39458600 0.54 [{'connected_gene': 'POU6F2-AS1', 'score': 17.18}, {'connected_gene': 'POU6F2', 'score': 11.17}, {'connected_gene': 'YAE1D1', 'score': 9.57}, {'connected_gene': 'LOC105375240', 'score': 9.57}, {'connected_gene': 'LOC105375238', 'score': 0.37}]
chr7 GH07I039607 39607098 39611630 1.45 [{'connected_gene': 'GC07P039609', 'score': 550.77}, {'connected_gene': 'LOC646999', 'score': 550.77}, {'connected_gene': 'ENSG00000106540', 'score': 550.77}, {'connected_gene': 'ENSG00000231951', 'score': 550.77}, {'connected_gene': 'YAE1D1', 'score': 10.95}, {'connected_gene': 'LOC105375240', 'score': 10.95}, {'connected_gene': 'RALA', 'score': 5.19}, {'connected_gene': 'GC07P039582', 'score': 0.31}]
chr7 GH07I039702 39702162 39702311 0.2 [{'connected_gene': 'ENSG00000228554', 'score': 550.77}, {'connected_gene': 'RALA', 'score': 12.17}, {'connected_gene': 'YAE1D1', 'score': 10.52}, {'connected_gene': 'LOC105375240', 'score': 10.52}, {'connected_gene': 'LINC00265', 'score': 7.61}, {'connected_gene': 'GC07M039668', 'score': 0.37}]
chr7 GH07I039683 39682801 39684600 0.51 [{'connected_gene': 'GC07M039668', 'score': 550.77}, {'connected_gene': 'RALA', 'score': 12.52}, {'connected_gene': 'ENSG00000231951', 'score': 11.6}, {'connected_gene': 'YAE1D1', 'score': 10.49}, {'connected_gene': 'LOC105375240', 'score': 10.49}, {'connected_gene': 'LINC00265', 'score': 10.37}]
chr7 GH07I039498 39498309 39498549 0.4 [{'connected_gene': 'GC07P039498', 'score': 550.77}, {'connected_gene': 'YAE1D1', 'score': 9.94}, {'connected_gene': 'LOC105375240', 'score': 9.94}, {'connected_gene': 'LOC105375237', 'score': 0.34}]