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
ENST00000437102 [[42897496, 42897963], [42915961, 42917390]] [[42897819, 42897963], [42915961, 42917308]]
ENST00000316161 [[42913683, 42917633]] [[42915802, 42917308]]
NM_004391 [[42913683, 42917633]] [[42915802, 42917308]]
Promoter
Chrom Start End Description
chr3 42916749 42916758 CAGE_peak_7_at_CYP8B1_5end
chr3 42916795 42916809 CAGE_peak_6_at_CYP8B1_5end
chr3 42917325 42917328 CAGE_peak_8_at_CYP8B1_5end
chr3 42917329 42917355 CAGE_peak_1_at_CYP8B1_5end
chr3 42917363 42917377 CAGE_peak_2_at_CYP8B1_5end
chr3 42917405 42917412 CAGE_peak_5_at_CYP8B1_5end
chr3 42917432 42917446 CAGE_peak_3_at_CYP8B1_5end
chr3 42917447 42917459 CAGE_peak_4_at_CYP8B1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I042890 42890096 42892438 0.56 [{'connected_gene': 'HNRNPA1P22', 'score': 550.77}, {'connected_gene': 'CCDC13', 'score': 7.1}, {'connected_gene': 'CYP8B1', 'score': 4.69}, {'connected_gene': 'GC03M042884', 'score': 0.77}, {'connected_gene': 'KRBOX1', 'score': 0.18}, {'connected_gene': 'ENSG00000273328', 'score': 0.18}, {'connected_gene': 'ENSG00000273291', 'score': 0.18}]
chr3 GH03I042880 42880401 42881678 1.45 [{'connected_gene': 'NKTR', 'score': 18.34}, {'connected_gene': 'HIGD1A', 'score': 15.01}, {'connected_gene': 'SNRK-AS1', 'score': 13.2}, {'connected_gene': 'ENSG00000235288', 'score': 12.11}, {'connected_gene': 'ACKR2', 'score': 11.98}, {'connected_gene': 'ZNF662', 'score': 11.23}, {'connected_gene': 'CCDC13', 'score': 10.81}, {'connected_gene': 'LINC02158', 'score': 10.8}, {'connected_gene': 'KRBOX1', 'score': 10.68}, {'connected_gene': 'CYP8B1', 'score': 7.29}, {'connected_gene': 'POMGNT2', 'score': 1.24}, {'connected_gene': 'HNRNPA1P22', 'score': 0.44}, {'connected_gene': 'ENSG00000273328', 'score': 0.19}, {'connected_gene': 'ENSG00000273291', 'score': 0.19}]
chr3 GH03I042875 42875845 42875904 1.16 [{'connected_gene': 'CYP8B1', 'score': 550.77}, {'connected_gene': 'GC03P042857', 'score': 0.34}, {'connected_gene': 'GC03P042856', 'score': 0.34}, {'connected_gene': 'KRBOX1', 'score': 0.2}, {'connected_gene': 'ENSG00000273328', 'score': 0.2}, {'connected_gene': 'ENSG00000273291', 'score': 0.2}, {'connected_gene': 'ACKR2', 'score': 0.19}]
chr3 GH03I042850 42850865 42856784 1.37 [{'connected_gene': 'GC03P042857', 'score': 550.77}, {'connected_gene': 'GC03P042856', 'score': 550.77}, {'connected_gene': 'ENSG00000235288', 'score': 550.77}, {'connected_gene': 'ACKR2', 'score': 5.67}, {'connected_gene': 'CCDC13', 'score': 5.61}, {'connected_gene': 'CYP8B1', 'score': 5.4}, {'connected_gene': 'CCDC13-AS1', 'score': 4.93}, {'connected_gene': 'FAM198A', 'score': 4.82}, {'connected_gene': 'KRBOX1', 'score': 0.26}, {'connected_gene': 'ENSG00000273328', 'score': 0.26}, {'connected_gene': 'ENSG00000273291', 'score': 0.26}]