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
ENST00000342213 [[38723307, 38725574]] [[38723754, 38725227]]
NM_175060 [[38723204, 38725575]] [[38723754, 38725227]]
Promoter
Chrom Start End Description
chr14 38725228 38725236 CAGE_peak_5_at_CLEC14A_5end
chr14 38725249 38725254 CAGE_peak_6_at_CLEC14A_5end
chr14 38725257 38725276 CAGE_peak_2_at_CLEC14A_5end
chr14 38725279 38725304 CAGE_peak_1_at_CLEC14A_5end
chr14 38725573 38725605 CAGE_peak_3_at_CLEC14A_5end
chr14 38725646 38725681 CAGE_peak_4_at_CLEC14A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I038204 38204782 38204885 0.38 [{'connected_gene': 'CLEC14A', 'score': 10.9}, {'connected_gene': 'SSTR1', 'score': 0.77}, {'connected_gene': 'ENSG00000259048', 'score': 0.39}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I038196 38196441 38197505 0.76 [{'connected_gene': 'CLEC14A', 'score': 10.75}, {'connected_gene': 'SSTR1', 'score': 6.22}, {'connected_gene': 'ENSG00000259048', 'score': 0.77}, {'connected_gene': 'ENSG00000258649', 'score': 0.44}, {'connected_gene': 'GC14M038195', 'score': 0.28}]
chr14 GH14I038197 38197776 38200783 0.86 [{'connected_gene': 'CLEC14A', 'score': 10.42}, {'connected_gene': 'SSTR1', 'score': 4.53}, {'connected_gene': 'ENSG00000259048', 'score': 0.77}, {'connected_gene': 'ENSG00000258649', 'score': 0.44}, {'connected_gene': 'GC14M038195', 'score': 0.28}]
chr14 GH14I038253 38253703 38258127 1.85 [{'connected_gene': 'CLEC14A', 'score': 562.12}, {'connected_gene': 'PIR37390', 'score': 550.77}, {'connected_gene': 'GC14M038256', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 10.76}]
chr14 GH14I037985 37985996 37986125 0.56 [{'connected_gene': 'CLEC14A', 'score': 9.77}, {'connected_gene': 'ENSG00000258696', 'score': 0.37}, {'connected_gene': 'LINC00517', 'score': 0.18}, {'connected_gene': 'TTC6', 'score': 0.05}]
chr14 GH14I038070 38070174 38071701 0.4 [{'connected_gene': 'CLEC14A', 'score': 4.74}, {'connected_gene': 'LOC105370456', 'score': 0.29}, {'connected_gene': 'ENSG00000259048', 'score': 0.13}, {'connected_gene': 'ENSG00000258649', 'score': 0.13}]
chr14 GH14I038063 38063530 38066744 1.15 [{'connected_gene': 'CLEC14A', 'score': 10.44}, {'connected_gene': 'LOC105370456', 'score': 0.31}, {'connected_gene': 'ENSG00000259048', 'score': 0.13}, {'connected_gene': 'ENSG00000258649', 'score': 0.13}]
chr14 GH14I038125 38124956 38126130 0.49 [{'connected_gene': 'CLEC14A', 'score': 10.29}, {'connected_gene': 'ENSG00000259048', 'score': 0.2}, {'connected_gene': 'ENSG00000258649', 'score': 0.2}, {'connected_gene': 'LOC105370456', 'score': 0.17}]
chr14 GH14I038124 38124616 38124765 0.2 [{'connected_gene': 'CLEC14A', 'score': 10.29}, {'connected_gene': 'ENSG00000259048', 'score': 0.2}, {'connected_gene': 'ENSG00000258649', 'score': 0.2}, {'connected_gene': 'LOC105370456', 'score': 0.17}]
chr14 GH14I038357 38357476 38358249 0.43 [{'connected_gene': 'CLEC14A', 'score': 10.81}, {'connected_gene': 'GC14P038355', 'score': 0.77}, {'connected_gene': 'GC14P038346', 'score': 0.39}, {'connected_gene': 'GC14M038447', 'score': 0.16}]
chr14 GH14I038251 38251970 38252244 0.44 [{'connected_gene': 'CLEC14A', 'score': 3.94}, {'connected_gene': 'PIR37390', 'score': 0.77}, {'connected_gene': 'GC14M038256', 'score': 0.77}, {'connected_gene': 'GC14M038195', 'score': 0.37}]
chr14 GH14I038286 38286097 38286246 0.2 [{'connected_gene': 'CLEC14A', 'score': 11.93}, {'connected_gene': 'ENSG00000259072', 'score': 0.77}]
chr14 GH14I038206 38206852 38211385 1.81 [{'connected_gene': 'GC14P038209', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 19.02}, {'connected_gene': 'CLEC14A', 'score': 10.77}, {'connected_gene': 'GC14M038195', 'score': 0.31}]
chr14 GH14I038289 38289787 38292434 0.91 [{'connected_gene': 'ENSG00000259072', 'score': 550.77}, {'connected_gene': 'CLEC14A', 'score': 11.92}, {'connected_gene': 'SSTR1', 'score': 11.08}, {'connected_gene': 'PIR41157', 'score': 0.25}]
chr14 GH14I038278 38278076 38278225 0.43 [{'connected_gene': 'ENSG00000259072', 'score': 0.39}, {'connected_gene': 'CLEC14A', 'score': 0.34}]

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