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
ENST00000310546 [[140770243, 140770834], [140784793, 140785640], [140865983, 140867453]] [[140784946, 140785640], [140865983, 140866111]]
ENST00000508126 [[140785479, 140785640], [140851030, 140851152], [140865983, 140867452]] [[140785479, 140785640], [140851030, 140851140]]
ENST00000508828 [[140795801, 140796254], [140799131, 140799215]] None
ENST00000507895 [[140796287, 140796425], [140799131, 140799250], [140865983, 140866302]] None
NM_080862 [[140770243, 140770834], [140784793, 140785640], [140865983, 140867453]] [[140784946, 140785640], [140865983, 140866111]]
Promoter
Chrom Start End Description
chr3 140770183 140770206 CAGE_peak_1_at_SPSB4_5end
chr3 140770345 140770394 CAGE_peak_5_at_SPSB4_5end
chr3 140784752 140784757 CAGE_peak_10_at_SPSB4_5end
chr3 140785128 140785157 CAGE_peak_2_at_SPSB4_5end
chr3 140785158 140785162 CAGE_peak_12_at_SPSB4_5end
chr3 140785187 140785194 CAGE_peak_9_at_SPSB4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I141192 141192339 141192548 0.89 [{'connected_gene': 'PXYLP1', 'score': 24.78}, {'connected_gene': 'SPSB4', 'score': 10.89}, {'connected_gene': 'PIR61633', 'score': 0.34}, {'connected_gene': 'ENSG00000251270', 'score': 0.2}]
chr3 GH03I141113 141113671 141117452 0.94 [{'connected_gene': 'SPSB4', 'score': 11.67}, {'connected_gene': 'ENSG00000251270', 'score': 0.44}]
chr3 GH03I141082 141082749 141085889 0.74 [{'connected_gene': 'SPSB4', 'score': 11.77}, {'connected_gene': 'ENSG00000251270', 'score': 0.28}]
chr3 GH03I141073 141073527 141078131 1.46 [{'connected_gene': 'SPSB4', 'score': 12.21}, {'connected_gene': 'ENSG00000251270', 'score': 0.25}]
chr3 GH03I141063 141063714 141064096 0.51 [{'connected_gene': 'SPSB4', 'score': 0.39}, {'connected_gene': 'ENSG00000251270', 'score': 0.21}]
chr3 GH03I141056 141056008 141057419 0.54 [{'connected_gene': 'SPSB4', 'score': 0.44}, {'connected_gene': 'ENSG00000251270', 'score': 0.2}]
chr3 GH03I141092 141092648 141096667 0.83 [{'connected_gene': 'SPSB4', 'score': 11.0}, {'connected_gene': 'ENSG00000251270', 'score': 0.31}]
chr3 GH03I141070 141070314 141072143 0.6 [{'connected_gene': 'SPSB4', 'score': 12.23}, {'connected_gene': 'ENSG00000251270', 'score': 0.23}]
chr3 GH03I141050 141050725 141053277 1.99 [{'connected_gene': 'SPSB4', 'score': 550.77}, {'connected_gene': 'ENSG00000251270', 'score': 0.19}]
chr3 GH03I141103 141103549 141105328 0.51 [{'connected_gene': 'SPSB4', 'score': 11.62}, {'connected_gene': 'ENSG00000251270', 'score': 0.37}]
chr3 GH03I141085 141085959 141088413 0.69 [{'connected_gene': 'SPSB4', 'score': 11.51}, {'connected_gene': 'ENSG00000251270', 'score': 0.28}]
chr3 GH03I141078 141078299 141078410 0.2 [{'connected_gene': 'SPSB4', 'score': 12.63}, {'connected_gene': 'ENSG00000251270', 'score': 0.25}]
chr3 GH03I141012 141011772 141014228 0.83 [{'connected_gene': 'SPSB4', 'score': 12.09}, {'connected_gene': 'ENSG00000248773', 'score': 0.26}]
chr3 GH03I141011 141011619 141011768 0.62 [{'connected_gene': 'SPSB4', 'score': 12.09}, {'connected_gene': 'ENSG00000248773', 'score': 0.28}]
chr3 GH03I141080 141080780 141082546 0.43 [{'connected_gene': 'SPSB4', 'score': 11.7}, {'connected_gene': 'ENSG00000251270', 'score': 0.26}]
chr3 GH03I141100 141100304 141100948 0.54 [{'connected_gene': 'YWHAQP6', 'score': 10.11}, {'connected_gene': 'ENSG00000251270', 'score': 0.34}, {'connected_gene': 'SPSB4', 'score': 0.25}]
chr3 GH03I141126 141126853 141131014 0.69 [{'connected_gene': 'ENSG00000251270', 'score': 0.77}, {'connected_gene': 'SPSB4', 'score': 0.18}, {'connected_gene': 'PIR61633', 'score': 0.17}]
chr3 GH03I141106 141106831 141107604 0.31 [{'connected_gene': 'ENSG00000251270', 'score': 0.37}, {'connected_gene': 'SPSB4', 'score': 0.22}]
chr3 GH03I141105 141105899 141106200 1.07 [{'connected_gene': 'ENSG00000251270', 'score': 0.37}, {'connected_gene': 'SPSB4', 'score': 0.22}]
chr3 GH03I141101 141100977 141101573 0.2 [{'connected_gene': 'ENSG00000251270', 'score': 0.34}, {'connected_gene': 'SPSB4', 'score': 0.23}]
chr3 GH03I141123 141123060 141124930 0.2 [{'connected_gene': 'ENSG00000251270', 'score': 550.77}, {'connected_gene': 'SPSB4', 'score': 0.19}]
chr3 GH03I141109 141109445 141110508 0.63 [{'connected_gene': 'ENSG00000251270', 'score': 0.39}, {'connected_gene': 'SPSB4', 'score': 0.22}]
chr3 GH03I141125 141125256 141125854 0.2 [{'connected_gene': 'ENSG00000251270', 'score': 550.77}, {'connected_gene': 'SPSB4', 'score': 0.19}, {'connected_gene': 'PIR61633', 'score': 0.17}]
chr3 GH03I141112 141112572 141113410 0.2 [{'connected_gene': 'ENSG00000251270', 'score': 0.39}, {'connected_gene': 'SPSB4', 'score': 0.21}]