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
ENST00000467509 [[58881055, 58881157], [58971731, 58971881], [58992932, 58993007], [58996272, 58996334]] None
ENST00000421528 [[58933598, 58934671], [58939497, 58939640], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004490]] [[58939544, 58939640], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004490]]
ENST00000358603 [[58939544, 58939640], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004982], [59012374, 59012452]] [[58939544, 58939640], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004966]]
ENST00000371226 [[58946390, 58946846], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004982], [59012374, 59012472]] [[58946636, 58946846], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004966]]
ENST00000476933 [[58946549, 58946846], [58992932, 58993007], [58996272, 58996309]] None
ENST00000460671 [[58928223, 58928466], [58971731, 58971871]] None
ENST00000456980 [[58999658, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004982], [59012335, 59012378]] [[58999658, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004966]]
ENST00000467063 [[58999718, 58999732], [58999829, 59000003], [59002184, 59002413], [59012361, 59012402]] None
ENST00000419242 [[58999965, 59000003], [59002184, 59002413], [59004466, 59004982], [59012361, 59012430]] [[58999965, 59000003], [59002184, 59002413], [59004466, 59004966]]
ENST00000426139 [[58999974, 59000003], [59002184, 59002413], [59004466, 59004982], [59012412, 59012474]] [[58999974, 59000003], [59002184, 59002413], [59004466, 59004966]]
ENST00000453710 [[59002362, 59002413], [59004466, 59004982], [59007162, 59007281], [59008154, 59008187], [59012361, 59012386]] [[59002362, 59002413], [59004466, 59004966]]
ENST00000482274 [[59004704, 59004982], [59012306, 59012380]] [[59004704, 59004966]]
NM_145243 [[58946390, 58946846], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004982], [59012374, 59012471]] [[58946636, 58946846], [58971731, 58971881], [58992932, 58993007], [58996272, 58996401], [58999624, 58999732], [58999829, 59000003], [59002184, 59002413], [59004466, 59004966]]
Promoter
Chrom Start End Description
chr1 59012334 59012342 CAGE_peak_3_at_OMA1_5end
chr1 59012365 59012437 CAGE_peak_1_at_DAB1_5end,CAGE_peak_1_at_OMA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I058652 58652600 58652878 0.87 [{'connected_gene': 'TACSTD2', 'score': 11.53}, {'connected_gene': 'DAB1', 'score': 11.5}, {'connected_gene': 'OMA1', 'score': 11.5}, {'connected_gene': 'MYSM1', 'score': 5.68}, {'connected_gene': 'GC01M058655', 'score': 0.44}, {'connected_gene': 'GC01P058635', 'score': 0.37}]
chr1 GH01I058653 58652129 58652278 0.46 [{'connected_gene': 'TACSTD2', 'score': 11.53}, {'connected_gene': 'DAB1', 'score': 11.5}, {'connected_gene': 'OMA1', 'score': 11.5}, {'connected_gene': 'GC01M058655', 'score': 0.44}, {'connected_gene': 'GC01P058635', 'score': 0.37}]
chr1 GH01I058497 58497601 58498000 0.2 [{'connected_gene': 'TACSTD2', 'score': 26.54}, {'connected_gene': 'DAB1', 'score': 10.37}, {'connected_gene': 'OMA1', 'score': 10.37}, {'connected_gene': 'GC01P058492', 'score': 0.44}, {'connected_gene': 'GC01M058497', 'score': 0.39}]
chr1 GH01I058528 58528600 58528801 0.38 [{'connected_gene': 'TACSTD2', 'score': 10.45}, {'connected_gene': 'DAB1', 'score': 0.37}, {'connected_gene': 'GC01M058497', 'score': 0.37}, {'connected_gene': 'OMA1', 'score': 0.37}]
chr1 GH01I058617 58617520 58621475 1.14 [{'connected_gene': 'TACSTD2', 'score': 19.7}, {'connected_gene': 'OMA1', 'score': 17.6}, {'connected_gene': 'DAB1', 'score': 10.73}, {'connected_gene': 'AK2P1', 'score': 0.39}, {'connected_gene': 'GC01M058620', 'score': 0.39}, {'connected_gene': 'GC01M058574', 'score': 0.29}]
chr1 GH01I058572 58572300 58578798 2.32 [{'connected_gene': 'TACSTD2', 'score': 594.94}, {'connected_gene': 'OMA1', 'score': 20.02}, {'connected_gene': 'DAB1', 'score': 11.63}, {'connected_gene': 'RN7SL713P', 'score': 0.44}, {'connected_gene': 'GC01M058574', 'score': 0.39}]
chr1 GH01I058583 58583327 58587099 1.5 [{'connected_gene': 'TACSTD2', 'score': 44.72}, {'connected_gene': 'OMA1', 'score': 21.25}, {'connected_gene': 'DAB1', 'score': 11.13}, {'connected_gene': 'GC01M058574', 'score': 0.77}]
chr1 GH01I058578 58578988 58580035 0.49 [{'connected_gene': 'TACSTD2', 'score': 595.1}, {'connected_gene': 'OMA1', 'score': 16.16}, {'connected_gene': 'DAB1', 'score': 11.14}, {'connected_gene': 'GC01M058574', 'score': 0.44}]
chr1 GH01I058539 58539044 58540226 0.49 [{'connected_gene': 'TACSTD2', 'score': 38.76}, {'connected_gene': 'OMA1', 'score': 11.57}, {'connected_gene': 'MYSM1', 'score': 9.54}, {'connected_gene': 'DAB1', 'score': 0.44}, {'connected_gene': 'GC01M058497', 'score': 0.31}]
chr1 GH01I058596 58596396 58597427 0.6 [{'connected_gene': 'TACSTD2', 'score': 8.03}, {'connected_gene': 'OMA1', 'score': 5.83}, {'connected_gene': 'MYSM1', 'score': 4.63}, {'connected_gene': 'GC01M058574', 'score': 0.44}, {'connected_gene': 'AK2P1', 'score': 0.29}]
chr1 GH01I058503 58503892 58503903 0.24 [{'connected_gene': 'DAB1', 'score': 11.29}, {'connected_gene': 'OMA1', 'score': 11.29}, {'connected_gene': 'TACSTD2', 'score': 10.64}, {'connected_gene': 'GC01M058497', 'score': 0.44}, {'connected_gene': 'GC01P058492', 'score': 0.39}]
chr1 GH01I058515 58515909 58516098 0.67 [{'connected_gene': 'DAB1', 'score': 12.25}, {'connected_gene': 'OMA1', 'score': 12.25}, {'connected_gene': 'TACSTD2', 'score': 10.88}, {'connected_gene': 'GC01M058497', 'score': 0.44}]
chr1 GH01I058544 58544925 58547400 2.04 [{'connected_gene': 'OMA1', 'score': 557.92}, {'connected_gene': 'DAB1', 'score': 550.77}, {'connected_gene': 'TACSTD2', 'score': 30.66}, {'connected_gene': 'GC01M058497', 'score': 0.28}]
chr1 GH01I058698 58698726 58700783 2 [{'connected_gene': 'MYSM1', 'score': 558.1}, {'connected_gene': 'ENSG00000272226', 'score': 9.91}, {'connected_gene': 'DAB1', 'score': 9.71}, {'connected_gene': 'OMA1', 'score': 9.71}, {'connected_gene': 'GC01M058655', 'score': 0.26}]
chr1 GH01I058717 58717583 58719266 0.63 [{'connected_gene': 'LINC01135', 'score': 9.78}, {'connected_gene': 'JUN', 'score': 9.78}, {'connected_gene': 'DAB1', 'score': 9.66}, {'connected_gene': 'OMA1', 'score': 9.66}, {'connected_gene': 'TACSTD2', 'score': 9.29}, {'connected_gene': 'LOC105378751', 'score': 0.77}]
chr1 GH01I058432 58432409 58433653 1.05 [{'connected_gene': 'GC01P058454', 'score': 0.34}, {'connected_gene': 'DAB1', 'score': 0.14}, {'connected_gene': 'OMA1', 'score': 0.14}, {'connected_gene': 'GC01P058304', 'score': 0.13}]
chr1 GH01I058448 58448009 58448158 0.31 [{'connected_gene': 'GC01P058454', 'score': 0.44}, {'connected_gene': 'DAB1', 'score': 0.15}, {'connected_gene': 'OMA1', 'score': 0.15}, {'connected_gene': 'GC01P058304', 'score': 0.11}]