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
ENST00000256906 [[22040592, 22040885], [22048751, 22048915], [22056710, 22059921]] [[22040692, 22040885], [22048751, 22048915], [22056710, 22057526]]
ENST00000426880 [[22040692, 22040885], [22056810, 22057526]] [[22040692, 22040885], [22056810, 22057526]]
NM_001143828 [[22040592, 22040885], [22056810, 22059921]] [[22040692, 22040885], [22056810, 22057526]]
NM_001160166 [[22040592, 22040885], [22056710, 22059921]] [[22040692, 22040885], [22056710, 22056721]]
NM_021624 [[22040592, 22040885], [22048751, 22048915], [22056710, 22059921]] [[22040692, 22040885], [22048751, 22048915], [22056710, 22057526]]
Promoter
Chrom Start End Description
chr18 22040594 22040616 CAGE_peak_1_at_HRH4_5end
chr18 22040620 22040632 CAGE_peak_2_at_HRH4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I024514 24514577 24514666 0.49 [{'connected_gene': 'HRH4', 'score': 10.71}, {'connected_gene': 'ENSG00000266489', 'score': 0.77}, {'connected_gene': 'LOC646629', 'score': 0.44}]
chr18 GH18I024460 24460588 24460647 0.5 [{'connected_gene': 'HRH4', 'score': 550.77}, {'connected_gene': 'ENSG00000264695', 'score': 0.31}]
chr18 GH18I024465 24465401 24465600 0.38 [{'connected_gene': 'HRH4', 'score': 0.77}, {'connected_gene': 'ENSG00000264695', 'score': 0.34}]
chr18 GH18I024488 24488000 24488200 0.59 [{'connected_gene': 'ENSG00000264695', 'score': 550.77}, {'connected_gene': 'HRH4', 'score': 0.31}]
chr18 GH18I024487 24487797 24487946 0.6 [{'connected_gene': 'ENSG00000264695', 'score': 550.77}, {'connected_gene': 'HRH4', 'score': 0.31}]

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