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
ENST00000407228 [[52471916, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553491], [52581625, 52581714]] [[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553392]]
ENST00000219746 [[52471919, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580920]] [[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580635]]
ENST00000563091 [[52484259, 52484458], [52497845, 52498100], [52502420, 52502486], [52581279, 52581331]] [[52484259, 52484458], [52497845, 52498100], [52502420, 52502465]]
ENST00000568436 [[52497929, 52498097], [52502420, 52502486], [52509442, 52509552], [52580548, 52580752]] [[52509456, 52509552], [52580548, 52580635]]
ENST00000566696 [[52471917, 52473880], [52478187, 52479638]] None
NM_001080430 [[52470327, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580806]] [[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498100], [52502420, 52502486], [52580548, 52580635]]
NM_001146188 [[52470327, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553491], [52581625, 52581714]] [[52473136, 52473880], [52478187, 52478268], [52479905, 52480133], [52484188, 52484458], [52497845, 52498097], [52502420, 52502486], [52553317, 52553392]]
Promoter
Chrom Start End Description
chr16 52580805 52580840 CAGE_peak_3_at_TOX3_5end
chr16 52580953 52580992 CAGE_peak_2_at_TOX3_5end
chr16 52581025 52581072 CAGE_peak_1_at_TOX3_5end
chr16 52581957 52581960 CAGE_peak_8_at_TOX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I052572 52572243 52575108 1.12 [{'connected_gene': 'CHD9', 'score': 16.34}, {'connected_gene': 'HNRNPA1P48', 'score': 12.25}, {'connected_gene': 'TOX3', 'score': 12.12}, {'connected_gene': 'LOC105371265', 'score': 0.44}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16 GH16I052561 52561512 52563459 1.03 [{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.37}, {'connected_gene': 'CASC16', 'score': 0.17}]
chr16 GH16I052556 52556903 52558038 0.38 [{'connected_gene': 'TOX3', 'score': 0.44}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16 GH16I052564 52564105 52566293 1.09 [{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'LOC105371265', 'score': 0.37}, {'connected_gene': 'CASC16', 'score': 0.17}]
chr16 GH16I052558 52558323 52558944 0.46 [{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16 GH16I052559 52559790 52560312 0.2 [{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16 GH16I052560 52559269 52559378 0.38 [{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'LOC105371265', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.16}]
chr16 GH16I052549 52549009 52549218 0.59 [{'connected_gene': 'TOX3', 'score': 550.77}, {'connected_gene': 'LOC105371265', 'score': 0.29}]
chr16 GH16I052407 52407241 52408920 0.91 [{'connected_gene': 'TOX3', 'score': 6.12}, {'connected_gene': 'LOC105371262', 'score': 0.44}, {'connected_gene': 'CASC22', 'score': 0.11}]
chr16 GH16I052517 52517685 52518923 0.6 [{'connected_gene': 'TOX3', 'score': 0.31}, {'connected_gene': 'ENSG00000279427', 'score': 0.18}]
chr16 GH16I052498 52498603 52499300 0.4 [{'connected_gene': 'TOX3', 'score': 0.25}, {'connected_gene': 'ENSG00000279427', 'score': 0.21}]
chr16 GH16I052537 52537526 52537893 0.2 [{'connected_gene': 'TOX3', 'score': 0.39}, {'connected_gene': 'ENSG00000279427', 'score': 0.15}]
chr16 GH16I052531 52529149 52529298 0.58 [{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16 GH16I052469 52469922 52471014 0.52 [{'connected_gene': 'TOX3', 'score': 14.28}, {'connected_gene': 'ENSG00000279427', 'score': 0.29}]
chr16 GH16I052528 52528129 52529085 0.58 [{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16 GH16I052526 52526175 52527126 0.31 [{'connected_gene': 'TOX3', 'score': 12.07}, {'connected_gene': 'ENSG00000279427', 'score': 0.17}]
chr16 GH16I052497 52496289 52496438 1.03 [{'connected_gene': 'TOX3', 'score': 0.23}, {'connected_gene': 'ENSG00000279427', 'score': 0.22}]
chr16 GH16I052455 52455742 52457098 0.81 [{'connected_gene': 'TOX3', 'score': 6.33}, {'connected_gene': 'ENSG00000279427', 'score': 0.37}]
chr16 GH16I052492 52492469 52494403 1.35 [{'connected_gene': 'TOX3', 'score': 7.06}, {'connected_gene': 'ENSG00000279427', 'score': 0.22}]
chr16 GH16I052529 52529453 52530244 0.2 [{'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16 GH16I052523 52523494 52524873 0.2 [{'connected_gene': 'TOX3', 'score': 12.07}, {'connected_gene': 'ENSG00000279427', 'score': 0.17}]
chr16 GH16I052530 52530328 52530675 0.37 [{'connected_gene': 'TOX3', 'score': 1.75}, {'connected_gene': 'ENSG00000279427', 'score': 0.16}]
chr16 GH16I052512 52512231 52513311 0.65 [{'connected_gene': 'TOX3', 'score': 0.28}, {'connected_gene': 'ENSG00000279427', 'score': 0.18}]
chr16 GH16I052496 52496509 52498059 1.77 [{'connected_gene': 'TOX3', 'score': 0.23}, {'connected_gene': 'ENSG00000279427', 'score': 0.22}]
chr16 GH16I052544 52544618 52548880 2.08 [{'connected_gene': 'TOX3', 'score': 550.77}, {'connected_gene': 'ENSG00000279427', 'score': 0.14}]
chr16 GH16I052452 52452149 52452218 0.78 [{'connected_gene': 'TOX3', 'score': 6.44}, {'connected_gene': 'ENSG00000279427', 'score': 0.39}]
chr16 GH16I052567 52567010 52567625 0.2 [{'connected_gene': 'LOC105371265', 'score': 0.39}, {'connected_gene': 'TOX3', 'score': 0.37}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16 GH16I052568 52567773 52568398 0.2 [{'connected_gene': 'LOC105371265', 'score': 0.39}, {'connected_gene': 'TOX3', 'score': 0.34}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16 GH16I052577 52577682 52579517 1.5 [{'connected_gene': 'LOC105371265', 'score': 0.77}, {'connected_gene': 'TOX3', 'score': 0.29}, {'connected_gene': 'CASC16', 'score': 0.19}]
chr16 GH16I052575 52575112 52575248 0.4 [{'connected_gene': 'LOC105371265', 'score': 0.44}, {'connected_gene': 'TOX3', 'score': 0.31}, {'connected_gene': 'CASC16', 'score': 0.18}]
chr16 GH16I052488 52488869 52489038 0.91 [{'connected_gene': 'ENSG00000279427', 'score': 0.23}, {'connected_gene': 'TOX3', 'score': 0.22}]
chr16 GH16I052466 52466033 52466265 0.4 [{'connected_gene': 'ENSG00000279427', 'score': 0.31}, {'connected_gene': 'TOX3', 'score': 0.18}]
chr16 GH16I052467 52467060 52467259 0.51 [{'connected_gene': 'ENSG00000279427', 'score': 0.31}, {'connected_gene': 'TOX3', 'score': 0.18}]
chr16 GH16I052460 52460345 52460712 0.4 [{'connected_gene': 'ENSG00000279427', 'score': 0.34}, {'connected_gene': 'TOX3', 'score': 0.17}]
chr16 GH16I052461 52460735 52461101 0.58 [{'connected_gene': 'ENSG00000279427', 'score': 0.34}, {'connected_gene': 'TOX3', 'score': 0.17}]
chr16 GH16I052434 52434617 52437850 0.77 [{'connected_gene': 'ENSG00000279427', 'score': 550.77}, {'connected_gene': 'LOC105371262', 'score': 0.37}, {'connected_gene': 'TOX3', 'score': 0.14}]