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
ENST00000332567 [[44558942, 44561988]] [[44559373, 44561635]]
NM_016427 [[44558942, 44561988]] [[44559373, 44561635]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I046939 46939021 46941077 0.59 [{'connected_gene': 'KATNAL2', 'score': 13.45}, {'connected_gene': 'ELOA3', 'score': 10.93}, {'connected_gene': 'ELOA2', 'score': 10.92}, {'connected_gene': 'IER3IP1', 'score': 8.27}, {'connected_gene': 'HDHD2', 'score': 6.11}, {'connected_gene': 'GC18P046926', 'score': 0.39}, {'connected_gene': 'ELOA3D', 'score': 0.34}]
chr18 GH18I047035 47035587 47035646 0.5 [{'connected_gene': 'ELOA2', 'score': 550.77}, {'connected_gene': 'ELOA3', 'score': 0.44}, {'connected_gene': 'KATNAL2', 'score': 0.13}]
chr18 GH18I046898 46898798 46900105 0.38 [{'connected_gene': 'ELOA2', 'score': 10.37}, {'connected_gene': 'ELOA3', 'score': 10.37}, {'connected_gene': 'IER3IP1', 'score': 7.75}, {'connected_gene': 'HDHD2', 'score': 6.66}, {'connected_gene': 'ENSG00000279354', 'score': 0.37}, {'connected_gene': 'PIAS2', 'score': 0.34}, {'connected_gene': 'LOC100421737', 'score': 0.26}]
chr18 GH18I047405 47405439 47405467 0.24 [{'connected_gene': 'ELOA2', 'score': 1.2}, {'connected_gene': 'MIR4527', 'score': 0.34}, {'connected_gene': 'ENSG00000279367', 'score': 0.15}, {'connected_gene': 'ENSG00000261307', 'score': 0.15}, {'connected_gene': 'MIR4527HG', 'score': 0.13}]
chr18 GH18I047030 47030119 47030178 0.5 [{'connected_gene': 'ELOA3', 'score': 550.77}, {'connected_gene': 'ELOA2', 'score': 0.44}, {'connected_gene': 'KATNAL2', 'score': 0.14}]
chr18 GH18I046692 46692918 46694903 0.2 [{'connected_gene': 'ELOA3', 'score': 10.46}, {'connected_gene': 'ELOA2', 'score': 10.45}, {'connected_gene': 'ST8SIA5', 'score': 7.16}, {'connected_gene': 'RPS21P6', 'score': 0.31}, {'connected_gene': 'LOC105372096', 'score': 0.29}]
chr18 GH18I047075 47075230 47075379 0.57 [{'connected_gene': 'ENSG00000280212', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 6.56}, {'connected_gene': 'ELOA2', 'score': 0.28}, {'connected_gene': 'KATNAL2', 'score': 0.1}]