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
ENST00000299084 [[38544526, 38545418], [38591573, 38591748], [38614441, 38614610], [38616963, 38617010], [38631937, 38632096], [38641622, 38641724], [38643214, 38649450]] [[38545386, 38545418], [38591573, 38591748], [38614441, 38614610], [38616963, 38617010], [38631937, 38632096], [38641622, 38641724], [38643214, 38643865]]
ENST00000561205 [[38545048, 38545418], [38591573, 38591748], [38614441, 38614610], [38616963, 38617010], [38618148, 38618564]] None
ENST00000561317 [[38545381, 38545418], [38560374, 38560438], [38591573, 38591748], [38614441, 38614610], [38616963, 38617010], [38631937, 38631972]] [[38591604, 38591748], [38614441, 38614610], [38616963, 38617010], [38631937, 38631972]]
NM_152594 [[38545051, 38545418], [38591573, 38591748], [38614441, 38614610], [38616963, 38617010], [38631937, 38632096], [38641622, 38641724], [38643214, 38649450]] [[38545386, 38545418], [38591573, 38591748], [38614441, 38614610], [38616963, 38617010], [38631937, 38632096], [38641622, 38641724], [38643214, 38643865]]
Promoter
Chrom Start End Description
chr15 38544276 38544294 CAGE_peak_4_at_SPRED1_5end
chr15 38544301 38544345 CAGE_peak_3_at_SPRED1_5end
chr15 38544361 38544372 CAGE_peak_7_at_SPRED1_5end
chr15 38544476 38544574 CAGE_peak_1_at_SPRED1_5end
chr15 38544993 38545058 CAGE_peak_2_at_SPRED1_5end
chr15 38545069 38545080 CAGE_peak_10_at_SPRED1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I038695 38695493 38697289 1.62 [{'connected_gene': 'C15orf53', 'score': 552.12}, {'connected_gene': 'RASGRP1', 'score': 3.36}, {'connected_gene': 'SPRED1', 'score': 1.17}, {'connected_gene': 'LOC105370775', 'score': 0.34}]
chr15 GH15I038411 38411908 38412706 0.2 [{'connected_gene': 'FAM98B', 'score': 10.99}, {'connected_gene': 'SPRED1', 'score': 10.18}, {'connected_gene': 'GC15P038333', 'score': 0.18}]
chr15 GH15I038397 38397830 38398826 0.69 [{'connected_gene': 'FAM98B', 'score': 10.51}, {'connected_gene': 'SPRED1', 'score': 10.2}, {'connected_gene': 'GC15P038333', 'score': 0.2}]
chr15 GH15I039229 39229809 39233520 1.27 [{'connected_gene': 'SPRED1', 'score': 5.28}, {'connected_gene': 'THBS1', 'score': 3.38}, {'connected_gene': 'C15orf54', 'score': 0.37}, {'connected_gene': 'ENSG00000259450', 'score': 0.28}, {'connected_gene': 'LOC105370777', 'score': 0.08}]
chr15 GH15I039234 39234675 39236152 0.99 [{'connected_gene': 'SPRED1', 'score': 5.29}, {'connected_gene': 'C15orf54', 'score': 0.37}, {'connected_gene': 'ENSG00000259450', 'score': 0.26}, {'connected_gene': 'LOC105370777', 'score': 0.08}]
chr15 GH15I037995 37995752 37996400 0.65 [{'connected_gene': 'SPRED1', 'score': 10.12}, {'connected_gene': 'C15orf53', 'score': 9.79}, {'connected_gene': 'LINC02345', 'score': 6.09}, {'connected_gene': 'LINC01852', 'score': 0.18}]
chr15 GH15I038373 38373722 38379072 0.58 [{'connected_gene': 'SPRED1', 'score': 10.68}, {'connected_gene': 'GC15P038333', 'score': 0.26}, {'connected_gene': 'FAM98B', 'score': 0.18}]
chr15 GH15I038298 38298905 38299964 0.31 [{'connected_gene': 'SPRED1', 'score': 10.98}, {'connected_gene': 'FAM98B', 'score': 10.56}, {'connected_gene': 'GC15P038333', 'score': 0.29}]
chr15 GH15I038058 38058350 38059653 0.85 [{'connected_gene': 'SPRED1', 'score': 10.39}, {'connected_gene': 'LINC01852', 'score': 0.39}, {'connected_gene': 'LINC02345', 'score': 0.19}]
chr15 GH15I038068 38068202 38070399 1.2 [{'connected_gene': 'SPRED1', 'score': 10.73}, {'connected_gene': 'LINC01852', 'score': 0.77}, {'connected_gene': 'LINC02345', 'score': 0.18}]
chr15 GH15I038163 38163901 38164583 0.2 [{'connected_gene': 'SPRED1', 'score': 10.76}, {'connected_gene': 'ENSG00000259380', 'score': 0.21}, {'connected_gene': 'LINC01852', 'score': 0.16}]
chr15 GH15I038212 38212408 38214198 0.38 [{'connected_gene': 'SPRED1', 'score': 11.09}, {'connected_gene': 'ENSG00000259380', 'score': 0.39}, {'connected_gene': 'LINC01852', 'score': 0.11}]
chr15 GH15I038216 38216860 38218969 0.99 [{'connected_gene': 'SPRED1', 'score': 11.65}, {'connected_gene': 'ENSG00000259380', 'score': 0.44}, {'connected_gene': 'LINC01852', 'score': 0.11}]
chr15 GH15I038084 38084201 38086493 1.46 [{'connected_gene': 'SPRED1', 'score': 10.57}, {'connected_gene': 'LINC01852', 'score': 0.39}, {'connected_gene': 'ENSG00000259380', 'score': 0.11}]
chr15 GH15I038184 38184565 38187886 0.31 [{'connected_gene': 'SPRED1', 'score': 11.05}, {'connected_gene': 'ENSG00000259380', 'score': 0.26}, {'connected_gene': 'LINC01852', 'score': 0.14}]
chr15 GH15I038126 38126995 38132327 1.27 [{'connected_gene': 'SPRED1', 'score': 10.4}, {'connected_gene': 'LINC01852', 'score': 0.22}, {'connected_gene': 'ENSG00000259380', 'score': 0.15}]
chr15 GH15I038079 38079390 38080690 0.43 [{'connected_gene': 'SPRED1', 'score': 10.23}, {'connected_gene': 'LINC01852', 'score': 0.44}, {'connected_gene': 'ENSG00000259380', 'score': 0.11}]
chr15 GH15I038075 38075667 38077480 0.51 [{'connected_gene': 'SPRED1', 'score': 10.37}, {'connected_gene': 'LINC01852', 'score': 0.77}, {'connected_gene': 'ENSG00000259380', 'score': 0.1}]
chr15 GH15I038170 38170060 38170149 0.4 [{'connected_gene': 'SPRED1', 'score': 10.77}, {'connected_gene': 'ENSG00000259380', 'score': 0.22}, {'connected_gene': 'LINC01852', 'score': 0.15}]
chr15 GH15I038019 38019099 38019396 0.22 [{'connected_gene': 'SPRED1', 'score': 10.16}, {'connected_gene': 'LINC02345', 'score': 0.29}, {'connected_gene': 'LINC01852', 'score': 0.23}]
chr15 GH15I038017 38017555 38018002 0.48 [{'connected_gene': 'SPRED1', 'score': 10.16}, {'connected_gene': 'LINC02345', 'score': 0.29}, {'connected_gene': 'LINC01852', 'score': 0.22}]
chr15 GH15I038266 38266201 38267200 0.2 [{'connected_gene': 'SPRED1', 'score': 0.39}, {'connected_gene': 'GC15P038333', 'score': 0.2}]
chr15 GH15I038250 38250673 38256725 2.29 [{'connected_gene': 'SPRED1', 'score': 555.04}, {'connected_gene': 'GC15P038333', 'score': 0.18}]
chr15 GH15I038263 38263620 38264941 0.43 [{'connected_gene': 'SPRED1', 'score': 0.39}, {'connected_gene': 'GC15P038333', 'score': 0.2}]
chr15 GH15I038071 38071284 38074431 1.62 [{'connected_gene': 'LINC01852', 'score': 550.77}, {'connected_gene': 'SPRED1', 'score': 10.73}, {'connected_gene': 'FAM98B', 'score': 10.51}, {'connected_gene': 'LINC02345', 'score': 0.17}]
chr15 GH15I038991 38991160 38998018 0.74 [{'connected_gene': 'LOC105370777', 'score': 7.77}, {'connected_gene': 'SPRED1', 'score': 4.22}, {'connected_gene': 'LOC105370781', 'score': 0.34}, {'connected_gene': 'ENSG00000274281', 'score': 0.11}]
chr15 GH15I038354 38354500 38354589 0.56 [{'connected_gene': 'GC15P038333', 'score': 0.34}, {'connected_gene': 'FAM98B', 'score': 0.15}, {'connected_gene': 'SPRED1', 'score': 0.15}]
chr15 GH15I038228 38228106 38230829 0.38 [{'connected_gene': 'ENSG00000259380', 'score': 0.77}, {'connected_gene': 'SPRED1', 'score': 0.34}]
chr15 GH15I038226 38226480 38227514 0.85 [{'connected_gene': 'ENSG00000259380', 'score': 550.77}, {'connected_gene': 'SPRED1', 'score': 11.1}]

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