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
ENST00000545221 [[56247016, 56247940]] [[56247016, 56247940]]
NM_001004707 [[56247016, 56247940]] [[56247016, 56247940]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I058327 58327280 58348034 2.63 [{'connected_gene': 'TSPOAP1', 'score': 565.91}, {'connected_gene': 'MIR4736', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 52.05}, {'connected_gene': 'MKS1', 'score': 28.81}, {'connected_gene': 'SUPT4H1', 'score': 22.33}, {'connected_gene': 'VEZF1', 'score': 21.83}, {'connected_gene': 'TRIM37', 'score': 15.01}, {'connected_gene': 'DYNLL2', 'score': 5.1}, {'connected_gene': 'TEX14', 'score': 4.62}, {'connected_gene': 'MTMR4', 'score': 3.94}, {'connected_gene': 'MPO', 'score': 3.52}, {'connected_gene': 'RAD51C', 'score': 1.76}, {'connected_gene': 'HSF5', 'score': 1.51}, {'connected_gene': 'OR4D2', 'score': 1.44}, {'connected_gene': 'MIR142', 'score': 0.44}, {'connected_gene': 'ENSG00000265206', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.39}]
chr17 GH17I058172 58172560 58172709 0.71 [{'connected_gene': 'EPX', 'score': 11.77}, {'connected_gene': 'MKS1', 'score': 11.17}, {'connected_gene': 'OR4D2', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.39}]
chr17 GH17I058156 58156770 58158074 1.06 [{'connected_gene': 'MSX2P1', 'score': 556.57}, {'connected_gene': 'SRSF1', 'score': 16.13}, {'connected_gene': 'MKS1', 'score': 11.2}, {'connected_gene': 'OR4D2', 'score': 0.44}, {'connected_gene': 'OR4D1', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.31}]
chr17 GH17I058178 58178760 58178889 0.2 [{'connected_gene': 'MSX2P1', 'score': 12.4}, {'connected_gene': 'OR4D1', 'score': 12.35}, {'connected_gene': 'LPO', 'score': 9.95}, {'connected_gene': 'GC17M057928', 'score': 0.77}, {'connected_gene': 'OR4D2', 'score': 0.39}]
chr17 GH17I058522 58522651 58522790 0.57 [{'connected_gene': 'SEPT4', 'score': 7.87}, {'connected_gene': 'OR4D2', 'score': 4.28}, {'connected_gene': 'DYNLL2', 'score': 1.43}, {'connected_gene': 'SEPT4-AS1', 'score': 0.77}, {'connected_gene': 'GC17M058529', 'score': 0.44}]
chr17 GH17I057897 57897797 57905999 2.19 [{'connected_gene': 'CUEDC1', 'score': 568.65}, {'connected_gene': 'SRSF1', 'score': 40.87}, {'connected_gene': 'ENSG00000262298', 'score': 26.13}, {'connected_gene': 'MKS1', 'score': 20.25}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'VEZF1', 'score': 5.1}, {'connected_gene': 'ENSG00000263004', 'score': 4.98}, {'connected_gene': 'OR4D2', 'score': 3.18}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}, {'connected_gene': 'GC17P057856', 'score': 0.25}]
chr17 GH17I058169 58169430 58171131 0.81 [{'connected_gene': 'OR4D2', 'score': 550.77}, {'connected_gene': 'TSPOAP1', 'score': 4.81}, {'connected_gene': 'GC17M057928', 'score': 0.39}]
chr17 GH17I058136 58136800 58136929 0.6 [{'connected_gene': 'OR4D2', 'score': 11.95}, {'connected_gene': 'EPX', 'score': 10.83}, {'connected_gene': 'SRSF1', 'score': 10.14}, {'connected_gene': 'LPO', 'score': 9.96}, {'connected_gene': 'OR4D1', 'score': 0.39}, {'connected_gene': 'GC17P058101', 'score': 0.28}, {'connected_gene': 'GC17M057928', 'score': 0.25}]