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
ENST00000608838 [[67890, 68000], [76645, 77735]] None
ENST00000382410 [[68350, 68408], [76645, 77174]] [[68350, 68408], [76645, 77058]]
NM_153325 [[68312, 68408], [76645, 77214]] [[68350, 68408], [76645, 77058]]
Promoter
Chrom Start End Description
chr20 68295 68305 CAGE_peak_2_at_DEFB125_5end
chr20 68306 68318 CAGE_peak_1_at_DEFB125_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I000087 87623 87682 0.5 [{'connected_gene': 'DEFB125', 'score': 550.77}, {'connected_gene': 'DEFB126', 'score': 0.23}]
chr20 GH20I000657 657909 659855 0.97 [{'connected_gene': 'LOC105372491', 'score': 550.77}, {'connected_gene': 'FAM110A', 'score': 11.42}, {'connected_gene': 'SRXN1', 'score': 7.6}, {'connected_gene': 'DEFB125', 'score': 5.27}, {'connected_gene': 'GC20P000653', 'score': 0.44}, {'connected_gene': 'ENSG00000270299', 'score': 0.37}]

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