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
ENST00000399075 [[120218206, 120219934], [120221490, 120221888], [120225399, 120225600]] [[120219933, 120219934], [120221490, 120221888], [120225399, 120225600]]
ENST00000504110 [[120219853, 120219934], [120221490, 120222076]] [[120219933, 120219934], [120221490, 120221690]]
NM_001001701 [[120217573, 120219934], [120221490, 120221968]] [[120219933, 120219934], [120221490, 120221690]]
NM_001170330 [[120217573, 120219934], [120221490, 120221888], [120225399, 120225600]] [[120219933, 120219934], [120221490, 120221888], [120225399, 120225600]]
Promoter
Chrom Start End Description
chr4 120221699 120221820 CAGE_peak_1_at_C4orf3_5end
chr4 120221823 120221840 CAGE_peak_2_at_C4orf3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I119572 119572060 119572142 0.22 [{'connected_gene': 'C4orf3', 'score': 3.81}, {'connected_gene': 'ENSG00000221245', 'score': 0.77}, {'connected_gene': 'GC04P119639', 'score': 0.22}, {'connected_gene': 'PDE5A', 'score': 0.22}]
chr4 GH04I119319 119319260 119323294 1.02 [{'connected_gene': 'FABP2', 'score': 584.88}, {'connected_gene': 'LOC645513', 'score': 57.32}, {'connected_gene': 'KLHL2P1', 'score': 6.82}, {'connected_gene': 'ENSG00000260091', 'score': 5.34}, {'connected_gene': 'C4orf3', 'score': 0.37}]
chr4 GH04I119298 119298111 119301779 2.05 [{'connected_gene': 'PIR34278', 'score': 550.77}, {'connected_gene': 'GC04P119302', 'score': 550.77}, {'connected_gene': 'C4orf3', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 50.21}, {'connected_gene': 'FABP2', 'score': 28.8}, {'connected_gene': 'USP53', 'score': 21.49}, {'connected_gene': 'KLHL2P1', 'score': 6.72}, {'connected_gene': 'LOC101929762', 'score': 0.17}]