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
ENST00000533473 [[73110809, 73112488]] [[73111232, 73112051]]
NM_018029 [[73110809, 73112488]] [[73111232, 73112051]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I072886 72886451 72893369 2.42 [{'connected_gene': 'GXYLT2', 'score': 559.38}, {'connected_gene': 'SHQ1', 'score': 12.02}, {'connected_gene': 'RYBP', 'score': 1.94}, {'connected_gene': 'EBLN2', 'score': 1.48}, {'connected_gene': 'LAPTM4BP2', 'score': 0.44}, {'connected_gene': 'ENSG00000276890', 'score': 0.28}]
chr3 GH03I072273 72273169 72275856 1.42 [{'connected_gene': 'SHQ1', 'score': 12.37}, {'connected_gene': 'RYBP', 'score': 10.82}, {'connected_gene': 'EBLN2', 'score': 10.2}, {'connected_gene': 'LINC00877', 'score': 0.77}, {'connected_gene': 'LOC105377158', 'score': 0.29}, {'connected_gene': 'ENSG00000242618', 'score': 0.21}]
chr3 GH03I073061 73060550 73060719 0.31 [{'connected_gene': 'EBLN2', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 11.28}, {'connected_gene': 'GC03P073027', 'score': 0.29}, {'connected_gene': 'PPP4R2', 'score': 0.21}]
chr3 GH03I073060 73060950 73061891 0.7 [{'connected_gene': 'EBLN2', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 11.28}, {'connected_gene': 'GC03P073027', 'score': 0.29}, {'connected_gene': 'PPP4R2', 'score': 0.21}]
chr3 GH03I072875 72875983 72876166 0.49 [{'connected_gene': 'EBLN2', 'score': 1.4}, {'connected_gene': 'PSMD12P', 'score': 0.77}, {'connected_gene': 'SHQ1', 'score': 0.39}, {'connected_gene': 'GXYLT2', 'score': 0.31}]
chr3 GH03I072278 72278248 72280362 0.7 [{'connected_gene': 'LINC00877', 'score': 550.77}, {'connected_gene': 'EBLN2', 'score': 12.18}, {'connected_gene': 'RYBP', 'score': 10.83}, {'connected_gene': 'SHQ1', 'score': 10.82}, {'connected_gene': 'LOC105377158', 'score': 0.31}, {'connected_gene': 'ENSG00000242618', 'score': 0.2}]
chr3 GH03I072972 72972078 72973970 1.27 [{'connected_gene': 'PPP4R2', 'score': 24.46}, {'connected_gene': 'GXYLT2', 'score': 23.16}, {'connected_gene': 'EBLN2', 'score': 2.34}, {'connected_gene': 'GC03M072929', 'score': 0.26}]
chr3 GH03I073055 73055801 73056639 0.76 [{'connected_gene': 'PPP4R2', 'score': 30.63}, {'connected_gene': 'SHQ1', 'score': 11.63}, {'connected_gene': 'RNU2-64P', 'score': 10.63}, {'connected_gene': 'EBLN2', 'score': 0.44}, {'connected_gene': 'GC03P073027', 'score': 0.31}]
chr3 GH03I073000 73000018 73000182 0.5 [{'connected_gene': 'PPP4R2', 'score': 13.02}, {'connected_gene': 'EBLN2', 'score': 2.48}, {'connected_gene': 'RNU7-19P', 'score': 0.31}]
chr3 GH03I073037 73037374 73038667 1.04 [{'connected_gene': 'PPP4R2', 'score': 27.76}, {'connected_gene': 'GC03P073027', 'score': 0.39}, {'connected_gene': 'EBLN2', 'score': 0.34}]
chr3 GH03I073032 73032401 73032600 0.2 [{'connected_gene': 'PPP4R2', 'score': 11.45}, {'connected_gene': 'GC03P073027', 'score': 0.77}, {'connected_gene': 'EBLN2', 'score': 0.31}]
chr3 GH03I073038 73037130 73037279 0.69 [{'connected_gene': 'PPP4R2', 'score': 11.38}, {'connected_gene': 'GC03P073027', 'score': 0.44}, {'connected_gene': 'EBLN2', 'score': 0.34}]
chr3 GH03I073035 73035201 73035600 0.2 [{'connected_gene': 'PPP4R2', 'score': 11.92}, {'connected_gene': 'GC03P073027', 'score': 0.44}, {'connected_gene': 'EBLN2', 'score': 0.31}]
chr3 GH03I073110 73110070 73111157 0.72 [{'connected_gene': 'RNU2-64P', 'score': 550.77}, {'connected_gene': 'EBLN2', 'score': 1.61}, {'connected_gene': 'RNU6-557P', 'score': 0.37}]
chr3 GH03I073028 73028615 73030620 1.09 [{'connected_gene': 'RNU7-19P', 'score': 550.77}, {'connected_gene': 'GC03P073027', 'score': 550.77}, {'connected_gene': 'PPP4R2', 'score': 29.11}, {'connected_gene': 'EBLN2', 'score': 0.29}]
chr3 GH03I072738 72738201 72740796 1.05 [{'connected_gene': 'GC03P072740', 'score': 550.77}, {'connected_gene': 'SHQ1', 'score': 16.23}, {'connected_gene': 'EBLN2', 'score': 10.23}, {'connected_gene': 'RYBP', 'score': 10.18}, {'connected_gene': 'RNA5SP136', 'score': 0.25}]