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
ENST00000282003 [[79188425, 79191257], [79209244, 79209333], [79212957, 79213206], [79216256, 79216348], [79218996, 79219132], [79233183, 79233314]] [[79189714, 79191257], [79209244, 79209333], [79212957, 79213206], [79216256, 79216348], [79218996, 79219132], [79233183, 79233255]]
NM_024546 [[79188420, 79191257], [79209244, 79209333], [79212957, 79213206], [79216256, 79216348], [79218996, 79219132], [79233183, 79233314]] [[79189714, 79191257], [79209244, 79209333], [79212957, 79213206], [79216256, 79216348], [79218996, 79219132], [79233183, 79233255]]
Promoter
Chrom Start End Description
chr13 79233259 79233309 CAGE_peak_1_at_RNF219_5end
chr13 79233314 79233331 CAGE_peak_2_at_RNF219_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I078657 78657707 78660679 2.02 [{'connected_gene': 'RNF219', 'score': 550.77}, {'connected_gene': 'RBM26', 'score': 11.89}, {'connected_gene': 'ENSG00000271776', 'score': 11.79}, {'connected_gene': 'POU4F1', 'score': 7.96}, {'connected_gene': 'GC13P078744', 'score': 0.17}]
chr13 GH13I078986 78986926 78987144 0.4 [{'connected_gene': 'RNF219', 'score': 5.42}, {'connected_gene': 'LOC105370273', 'score': 0.77}, {'connected_gene': 'GC13M078992', 'score': 0.39}]
chr13 GH13I079496 79496898 79498311 0.46 [{'connected_gene': 'RBM26', 'score': 13.56}, {'connected_gene': 'RNF219', 'score': 10.12}, {'connected_gene': 'NDFIP2-AS1', 'score': 0.37}, {'connected_gene': 'NDFIP2', 'score': 0.37}, {'connected_gene': 'LINC01068', 'score': 0.2}]
chr13 GH13I078646 78646177 78648141 0.95 [{'connected_gene': 'POU4F1', 'score': 11.12}, {'connected_gene': 'ENSG00000271776', 'score': 10.2}, {'connected_gene': 'GC13P078650', 'score': 0.77}, {'connected_gene': 'GC13M078632', 'score': 0.44}, {'connected_gene': 'RNF219', 'score': 0.39}]
chr13 GH13I078421 78421967 78422277 0.22 [{'connected_gene': 'RPL31P54', 'score': 550.77}, {'connected_gene': 'RNF219', 'score': 1.32}, {'connected_gene': 'GC13M078419', 'score': 0.39}, {'connected_gene': 'RNY3P3', 'score': 0.2}, {'connected_gene': 'GC13M078356', 'score': 0.2}, {'connected_gene': 'RNF219-AS1', 'score': 0.03}]
chr13 GH13I078732 78732555 78732968 0.31 [{'connected_gene': 'GC13P078744', 'score': 0.39}, {'connected_gene': 'RNF219', 'score': 0.19}]
chr13 GH13I078664 78664373 78664821 0.56 [{'connected_gene': 'ENSG00000271776', 'score': 12.1}, {'connected_gene': 'RNF219', 'score': 0.44}, {'connected_gene': 'GC13P078744', 'score': 0.18}]