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
ENST00000368096 [[159887896, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159893225, 159893507]] [[159888589, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159893225, 159893260]]
ENST00000368097 [[159887896, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159895239, 159895522]] [[159888589, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890299]]
ENST00000478033 [[159888540, 159889166], [159889450, 159889625], [159890119, 159890327], [159895239, 159895281]] None
ENST00000320307 [[159888566, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159894283, 159894341]] [[159888589, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890299]]
ENST00000397334 [[159888627, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159894808, 159895019]] [[159888627, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890299]]
NM_001277224 [[159887896, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159893225, 159893507]] [[159888589, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159893225, 159893260]]
NM_001277223 [[159887896, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159894283, 159894341]] [[159888589, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890299]]
NM_003564 [[159887896, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890327], [159895239, 159895332]] [[159888589, 159888731], [159889063, 159889166], [159889450, 159889625], [159890119, 159890299]]
Promoter
Chrom Start End Description
chr1 159888413 159888444 CAGE_peak_7_at_TAGLN2_5end
chr1 159888451 159888482 CAGE_peak_6_at_TAGLN2_5end
chr1 159888558 159888585 CAGE_peak_9_at_TAGLN2_5end
chr1 159893402 159893413 CAGE_peak_20_at_TAGLN2_5end
chr1 159893511 159893537 CAGE_peak_4_at_TAGLN2_5end
chr1 159894319 159894392 CAGE_peak_5_at_TAGLN2_5end
chr1 159895266 159895275 CAGE_peak_2_at_TAGLN2_5end
chr1 159895286 159895305 CAGE_peak_1_at_CCDC19_5end,CAGE_peak_1_at_TAGLN2_5end
chr1 159895326 159895335 CAGE_peak_2_at_CCDC19_5end,CAGE_peak_3_at_TAGLN2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I159928 159928818 159930076 0.88 [{'connected_gene': 'TAGLN2', 'score': 0.77}, {'connected_gene': 'IGSF9', 'score': 0.37}]
chr1 GH01I159908 159908211 159926755 2.87 [{'connected_gene': 'TAGLN2', 'score': 559.83}, {'connected_gene': 'GC01M159919', 'score': 550.77}, {'connected_gene': 'GC01M159886', 'score': 550.77}, {'connected_gene': 'LOC100287049', 'score': 34.57}, {'connected_gene': 'NCSTN', 'score': 32.37}, {'connected_gene': 'SLAMF8', 'score': 31.57}, {'connected_gene': 'RAD1P2', 'score': 30.68}, {'connected_gene': 'ENSG00000272668', 'score': 20.86}, {'connected_gene': 'SNHG28', 'score': 17.8}, {'connected_gene': 'VSIG8', 'score': 13.81}, {'connected_gene': 'DCAF8', 'score': 11.97}, {'connected_gene': 'COPA', 'score': 10.55}, {'connected_gene': 'ENSG00000256029', 'score': 9.99}, {'connected_gene': 'FCRL6', 'score': 7.6}, {'connected_gene': 'ENSG00000279430', 'score': 0.44}]
chr1 GH01I159936 159936201 159946713 2.66 [{'connected_gene': 'IGSF9', 'score': 559.99}, {'connected_gene': 'ATP1A4', 'score': 51.6}, {'connected_gene': 'KCNJ10', 'score': 12.41}, {'connected_gene': 'NHLH1', 'score': 6.2}, {'connected_gene': 'LINC01133', 'score': 6.08}, {'connected_gene': 'VSIG8', 'score': 5.95}, {'connected_gene': 'CFAP45', 'score': 4.42}, {'connected_gene': 'VANGL2', 'score': 2.07}, {'connected_gene': 'TAGLN2', 'score': 0.37}]
chr1 GH01I159881 159881288 159882982 1.61 [{'connected_gene': 'RPSAP18', 'score': 36.6}, {'connected_gene': 'ENSG00000272668', 'score': 32.19}, {'connected_gene': 'SNHG28', 'score': 31.7}, {'connected_gene': 'LOC100287049', 'score': 22.64}, {'connected_gene': 'SLAMF8', 'score': 12.57}, {'connected_gene': 'PIGM', 'score': 12.13}, {'connected_gene': 'DCAF8', 'score': 11.34}, {'connected_gene': 'CADM3', 'score': 11.13}, {'connected_gene': 'CADM3-AS1', 'score': 10.32}, {'connected_gene': 'COPA', 'score': 9.98}, {'connected_gene': 'VSIG8', 'score': 6.77}, {'connected_gene': 'SLAMF9', 'score': 5.45}, {'connected_gene': 'TAGLN2', 'score': 2.04}, {'connected_gene': 'ENSG00000256029', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.37}, {'connected_gene': 'MIR4259', 'score': 0.37}]
chr1 GH01I160346 160346001 160347800 1.08 [{'connected_gene': 'NCSTN', 'score': 34.96}, {'connected_gene': 'IGSF8', 'score': 9.78}, {'connected_gene': 'COPA', 'score': 6.37}, {'connected_gene': 'TAGLN2', 'score': 2.52}, {'connected_gene': 'CD48', 'score': 2.14}, {'connected_gene': 'SLAMF7', 'score': 1.57}, {'connected_gene': 'GC01P160354', 'score': 0.44}, {'connected_gene': 'NHLH1', 'score': 0.21}]
chr1 GH01I159848 159848591 159850463 1.09 [{'connected_gene': 'ENSG00000272668', 'score': 47.09}, {'connected_gene': 'SLAMF9', 'score': 4.37}, {'connected_gene': 'SLAMF8', 'score': 1.74}, {'connected_gene': 'TAGLN2', 'score': 1.31}, {'connected_gene': 'GC01M159841', 'score': 0.77}, {'connected_gene': 'ENSG00000212161', 'score': 0.77}, {'connected_gene': 'GC01M159852', 'score': 0.77}, {'connected_gene': 'SNHG28', 'score': 0.44}]
chr1 GH01I159932 159932679 159934006 0.69 [{'connected_gene': 'ENSG00000212161', 'score': 9.79}, {'connected_gene': 'TAGLN2', 'score': 0.44}, {'connected_gene': 'IGSF9', 'score': 0.39}]
chr1 GH01I159888 159888967 159891999 1.66 [{'connected_gene': 'ENSG00000272668', 'score': 34.46}, {'connected_gene': 'SLAMF8', 'score': 17.04}, {'connected_gene': 'SNHG28', 'score': 16.35}, {'connected_gene': 'FCRL6', 'score': 12.13}, {'connected_gene': 'VSIG8', 'score': 11.62}, {'connected_gene': 'ENSG00000212161', 'score': 11.59}, {'connected_gene': 'IGSF9', 'score': 10.93}, {'connected_gene': 'DUSP23', 'score': 10.84}, {'connected_gene': 'PIGM', 'score': 9.57}, {'connected_gene': 'SLAMF9', 'score': 5.85}, {'connected_gene': 'TAGLN2', 'score': 2.78}, {'connected_gene': 'COPA', 'score': 1.22}, {'connected_gene': 'MIR4259', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.44}, {'connected_gene': 'ENSG00000256029', 'score': 0.37}, {'connected_gene': 'GC01M159886', 'score': 0.31}]