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
ENST00000376705 [[96743092, 96743823], [97484743, 97485671]] [[96743116, 96743823], [97484743, 97485452]]
NM_153456 [[96743092, 96743823], [97484743, 97491816]] [[96743116, 96743823], [97484743, 97485452]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I096104 96104627 96104776 0.57 [{'connected_gene': 'UGGT2', 'score': 10.13}, {'connected_gene': 'HS6ST3', 'score': 0.39}, {'connected_gene': 'RN7SL164P', 'score': 0.21}]
chr13 GH13I096294 96294927 96296564 0.43 [{'connected_gene': 'UGGT2', 'score': 9.09}, {'connected_gene': 'GC13P096305', 'score': 0.44}, {'connected_gene': 'GC13M096277', 'score': 0.37}, {'connected_gene': 'HS6ST3', 'score': 0.08}]
chr13 GH13I096342 96342864 96343757 0.2 [{'connected_gene': 'UGGT2', 'score': 7.98}, {'connected_gene': 'GC13M096368', 'score': 0.28}, {'connected_gene': 'GC13P096305', 'score': 0.26}, {'connected_gene': 'HS6ST3', 'score': 0.07}]
chr13 GH13I096808 96808922 96811034 0.2 [{'connected_gene': 'HSP90AB6P', 'score': 0.18}, {'connected_gene': 'GC13P096650', 'score': 0.1}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I096821 96821467 96821596 0.2 [{'connected_gene': 'HSP90AB6P', 'score': 0.21}, {'connected_gene': 'GC13P096650', 'score': 0.09}, {'connected_gene': 'HS6ST3', 'score': 0.02}]
chr13 GH13I096772 96772428 96772738 0.39 [{'connected_gene': 'HSP90AB6P', 'score': 0.14}, {'connected_gene': 'GC13P096650', 'score': 0.13}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I095999 95999649 96000816 0.46 [{'connected_gene': 'HS6ST3', 'score': 15.14}, {'connected_gene': 'UGGT2', 'score': 14.24}, {'connected_gene': 'GC13P096022', 'score': 0.34}, {'connected_gene': 'GC13M095889', 'score': 0.15}]
chr13 GH13I096089 96089808 96091201 1.8 [{'connected_gene': 'HS6ST3', 'score': 550.77}, {'connected_gene': 'UGGT2', 'score': 9.11}]
chr13 GH13I096034 96034392 96035476 0.31 [{'connected_gene': 'HS6ST3', 'score': 15.2}, {'connected_gene': 'GC13P096022', 'score': 0.39}, {'connected_gene': 'UGGT2', 'score': 0.37}]
chr13 GH13I096248 96248576 96249733 0.2 [{'connected_gene': 'HS6ST3', 'score': 11.2}, {'connected_gene': 'GC13M096146', 'score': 0.44}, {'connected_gene': 'RN7SL164P', 'score': 0.18}]
chr13 GH13I096274 96274344 96275423 0.69 [{'connected_gene': 'DZIP1', 'score': 22.12}, {'connected_gene': 'UGGT2', 'score': 15.69}, {'connected_gene': 'GC13M096277', 'score': 0.77}, {'connected_gene': 'GC13M096146', 'score': 0.37}, {'connected_gene': 'HS6ST3', 'score': 0.09}]
chr13 GH13I096139 96139542 96139561 0.22 [{'connected_gene': 'RN7SL164P', 'score': 0.31}, {'connected_gene': 'HS6ST3', 'score': 0.25}]
chr13 GH13I096535 96535825 96535936 0.22 [{'connected_gene': 'AMMECR1LP1', 'score': 0.28}, {'connected_gene': 'GC13P096498', 'score': 0.28}, {'connected_gene': 'HS6ST3', 'score': 0.05}]
chr13 GH13I096649 96649821 96651110 0.54 [{'connected_gene': 'GC13P096650', 'score': 550.77}, {'connected_gene': 'UGGT2', 'score': 6.39}, {'connected_gene': 'HSP90AB6P', 'score': 0.07}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I096681 96681238 96682845 0.2 [{'connected_gene': 'GC13P096650', 'score': 0.29}, {'connected_gene': 'HSP90AB6P', 'score': 0.08}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I096769 96769582 96770371 0.56 [{'connected_gene': 'GC13P096650', 'score': 0.13}, {'connected_gene': 'HSP90AB6P', 'score': 0.13}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I096710 96710347 96710456 0.38 [{'connected_gene': 'GC13P096650', 'score': 0.21}, {'connected_gene': 'HSP90AB6P', 'score': 0.1}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I096491 96491468 96491705 0.22 [{'connected_gene': 'GC13P096498', 'score': 0.44}, {'connected_gene': 'GC13M096433', 'score': 0.31}, {'connected_gene': 'HS6ST3', 'score': 0.05}]
chr13 GH13I096238 96238987 96239136 0.72 [{'connected_gene': 'GC13M096146', 'score': 0.37}, {'connected_gene': 'RN7SL164P', 'score': 0.2}, {'connected_gene': 'HS6ST3', 'score': 0.11}]
chr13 GH13I096525 96525267 96526572 0.46 [{'connected_gene': 'GC13P096498', 'score': 0.31}, {'connected_gene': 'AMMECR1LP1', 'score': 0.25}, {'connected_gene': 'HS6ST3', 'score': 0.05}]