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
ENST00000225525 [[3566195, 3567179], [3567488, 3567566], [3567972, 3568092], [3571781, 3571976]] [[3567041, 3567179], [3567488, 3567566], [3567972, 3568092], [3571781, 3571820]]
NM_014604 [[3566186, 3567179], [3567488, 3567566], [3567972, 3568092], [3571781, 3571973]] [[3567041, 3567179], [3567488, 3567566], [3567972, 3568092], [3571781, 3571820]]
NM_001204698 [[3566186, 3567179], [3567972, 3568092], [3571781, 3571973]] [[3567041, 3567179], [3567972, 3568092], [3571781, 3571820]]
Promoter
Chrom Start End Description
chr17 3571863 3571881 CAGE_peak_1_at_TAX1BP3_5end
chr17 3571887 3571918 CAGE_peak_2_at_TAX1BP3_5end
chr17 3571934 3571935 CAGE_peak_3_at_TAX1BP3_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 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 GH17I003747 3747585 3749358 0.63 [{'connected_gene': 'TAX1BP3', 'score': 4.86}, {'connected_gene': 'ENSG00000262358', 'score': 0.37}, {'connected_gene': 'ITGAE', 'score': 0.23}]
chr17 GH17I002939 2939674 2940794 0.86 [{'connected_gene': 'TAX1BP3', 'score': 7.02}, {'connected_gene': 'GC17P002937', 'score': 0.77}, {'connected_gene': 'LOC101927911', 'score': 0.31}, {'connected_gene': 'RAP1GAP2', 'score': 0.09}]
chr17 GH17I003639 3639602 3642424 1.17 [{'connected_gene': 'CTNS', 'score': 23.37}, {'connected_gene': 'TAX1BP3', 'score': 5.07}, {'connected_gene': 'LOC105371493', 'score': 0.39}]
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}]
chr17 GH17I004475 4475174 4484305 1.21 [{'connected_gene': 'GGT6', 'score': 11.03}, {'connected_gene': 'TAX1BP3', 'score': 6.62}, {'connected_gene': 'SPNS3', 'score': 4.6}, {'connected_gene': 'PFN1', 'score': 4.24}, {'connected_gene': 'ENSG00000262823', 'score': 0.44}, {'connected_gene': 'PIR52974', 'score': 0.28}]
chr17 GH17I003657 3657477 3661589 1.07 [{'connected_gene': 'LOC105371492', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 58.08}, {'connected_gene': 'SHPK', 'score': 12.87}, {'connected_gene': 'P2RX5', 'score': 11.72}, {'connected_gene': 'TAX1BP3', 'score': 6.57}, {'connected_gene': 'GC17P003667', 'score': 0.44}, {'connected_gene': 'GC17P003669', 'score': 0.44}, {'connected_gene': 'GC17P003666', 'score': 0.44}]
chr17 GH17I003664 3664084 3665260 0.38 [{'connected_gene': 'GC17P003667', 'score': 550.77}, {'connected_gene': 'GC17P003669', 'score': 550.77}, {'connected_gene': 'RPL21P125', 'score': 550.77}, {'connected_gene': 'GC17P003666', 'score': 550.77}, {'connected_gene': 'TAX1BP3', 'score': 20.27}, {'connected_gene': 'CTNS', 'score': 17.09}, {'connected_gene': 'P2RX5', 'score': 11.48}, {'connected_gene': 'HASPIN', 'score': 10.62}, {'connected_gene': 'LOC105371492', 'score': 0.44}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.29}]