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
ENST00000248378 [[3572108, 3572193], [3572391, 3572959]] [[3572440, 3572773]]
ENST00000397133 [[3572115, 3572306], [3572391, 3572962]] [[3572440, 3572773]]
NM_031298 [[3572016, 3572193], [3572391, 3572963]] [[3572440, 3572773]]
NM_001014764 [[3572016, 3572306], [3572391, 3572963]] [[3572440, 3572773]]
Promoter
Chrom Start End Description
chr17 3572087 3572119 CAGE_peak_1_at_TMEM93_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I003791 3791400 3792200 1.18 [{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'CTNS', 'score': 2.97}, {'connected_gene': 'ZZEF1', 'score': 2.4}, {'connected_gene': 'P2RX1', 'score': 1.35}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003759 3759169 3760497 0.52 [{'connected_gene': 'HASPIN', 'score': 12.77}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'P2RX5', 'score': 11.26}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17 GH17I003792 3792477 3793075 0.4 [{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003789 3789718 3790357 0.2 [{'connected_gene': 'HASPIN', 'score': 12.24}, {'connected_gene': 'NCBP3', 'score': 12.23}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003790 3790401 3790800 0.4 [{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.46}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'ITGAE', 'score': 0.39}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17 GH17I003760 3760715 3761761 0.31 [{'connected_gene': 'HASPIN', 'score': 12.58}, {'connected_gene': 'NCBP3', 'score': 11.77}, {'connected_gene': 'TAX1BP3', 'score': 11.43}, {'connected_gene': 'EMC6', 'score': 11.43}, {'connected_gene': 'ENSG00000262358', 'score': 0.29}, {'connected_gene': 'ITGAE', 'score': 0.26}]
chr17 GH17I003678 3678067 3678216 0.59 [{'connected_gene': 'EMC6', 'score': 0.44}, {'connected_gene': 'P2RX5', 'score': 0.37}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.37}]
chr17 GH17I003690 3690078 3698219 2.11 [{'connected_gene': 'P2RX5', 'score': 557.94}, {'connected_gene': 'HASPIN', 'score': 11.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.77}, {'connected_gene': 'EMC6', 'score': 0.31}]
chr17 GH17I003681 3681491 3683496 1 [{'connected_gene': 'P2RX5', 'score': 0.39}, {'connected_gene': 'EMC6', 'score': 0.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.39}]
chr17 GH17I003689 3689801 3690000 0.57 [{'connected_gene': 'P2RX5', 'score': 0.44}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.44}, {'connected_gene': 'EMC6', 'score': 0.34}]
chr17 GH17I003665 3665838 3670016 2.24 [{'connected_gene': 'TAX1BP3', 'score': 571.94}, {'connected_gene': 'EMC6', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 16.81}, {'connected_gene': 'P2RX5', 'score': 11.5}, {'connected_gene': 'HASPIN', 'score': 10.62}, {'connected_gene': 'RPL21P125', 'score': 0.77}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.31}]
chr17 GH17I003683 3683760 3683956 0.31 [{'connected_gene': 'CTNS', 'score': 5.25}, {'connected_gene': 'P2RX5', 'score': 0.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.39}, {'connected_gene': 'EMC6', 'score': 0.37}]
chr17 GH17I003634 3634583 3637601 2.06 [{'connected_gene': 'CTNS', 'score': 576.52}, {'connected_gene': 'SHPK', 'score': 556.08}, {'connected_gene': 'ENSG00000262304', 'score': 550.77}, {'connected_gene': 'MYBBP1A', 'score': 18.53}, {'connected_gene': 'TAX1BP3', 'score': 16.44}, {'connected_gene': 'LOC105371492', 'score': 13.12}, {'connected_gene': 'ANKFY1', 'score': 12.6}, {'connected_gene': 'EMC6', 'score': 11.4}, {'connected_gene': 'LOC100422717', 'score': 0.37}]