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
ENST00000450136 [[119449580, 119449660], [119459940, 119463577]] [[119460021, 119461983]]
ENST00000373983 [[119449608, 119449660], [119459943, 119463579]] [[119460021, 119461983]]
ENST00000411410 [[119449621, 119449660], [119459651, 119459712], [119459940, 119460539]] [[119460021, 119460539]]
NM_001099679 [[119449580, 119449660], [119459943, 119463579]] [[119460021, 119461983]]
NM_012210 [[119449580, 119449660], [119459940, 119463579]] [[119460021, 119461983]]
Promoter
Chrom Start End Description
chr9 119449576 119449638 CAGE_peak_1_at_TRIM32_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I116691 116691867 116694210 0.84 [{'connected_gene': 'PAPPA', 'score': 4.48}, {'connected_gene': 'TRIM32', 'score': 0.44}, {'connected_gene': 'GC09P116705', 'score': 0.39}, {'connected_gene': 'ASTN2', 'score': 0.03}]
chr9 GH09I116662 116662126 116664188 0.2 [{'connected_gene': 'ASTN2', 'score': 18.18}, {'connected_gene': 'TRIM32', 'score': 12.17}, {'connected_gene': 'ENSG00000230894', 'score': 10.55}, {'connected_gene': 'PAPPA', 'score': 10.54}, {'connected_gene': 'LOC105376240', 'score': 0.2}]
chr9 GH09I116643 116643840 116644457 0.2 [{'connected_gene': 'ASTN2', 'score': 16.55}, {'connected_gene': 'TRIM32', 'score': 11.63}, {'connected_gene': 'PAPPA', 'score': 10.63}, {'connected_gene': 'ENSG00000230894', 'score': 10.18}, {'connected_gene': 'ASTN2-AS1', 'score': 7.56}, {'connected_gene': 'LOC105376240', 'score': 0.25}]
chr9 GH09I116673 116673199 116673258 0.5 [{'connected_gene': 'ASTN2', 'score': 550.02}, {'connected_gene': 'TRIM32', 'score': 0.39}, {'connected_gene': 'LOC105376240', 'score': 0.18}]
chr9 GH09I116686 116686215 116690811 2.42 [{'connected_gene': 'ASTN2', 'score': 556.33}, {'connected_gene': 'TRIM32', 'score': 550.77}, {'connected_gene': 'ASTN2-AS1', 'score': 14.11}, {'connected_gene': 'PAPPA', 'score': 4.54}, {'connected_gene': 'GC09P116705', 'score': 0.37}]
chr9 GH09I116661 116661001 116661401 0.79 [{'connected_gene': 'TRIM32', 'score': 12.14}, {'connected_gene': 'ASTN2', 'score': 11.85}, {'connected_gene': 'ENSG00000230894', 'score': 10.55}, {'connected_gene': 'PAPPA', 'score': 10.54}, {'connected_gene': 'LOC105376240', 'score': 0.21}]
chr9 GH09I116717 116717302 116717451 0.2 [{'connected_gene': 'TRIM32', 'score': 11.24}, {'connected_gene': 'ASTN2', 'score': 10.97}, {'connected_gene': 'PIR58420', 'score': 0.39}, {'connected_gene': 'GC09P116707', 'score': 0.39}, {'connected_gene': 'LOC105376239', 'score': 0.13}]
chr9 GH09I116642 116642129 116642150 0.22 [{'connected_gene': 'LOC105376240', 'score': 0.26}, {'connected_gene': 'TRIM32', 'score': 0.25}, {'connected_gene': 'ASTN2', 'score': 0.03}]
chr9 GH09I116622 116622802 116622951 0.31 [{'connected_gene': 'LOC105376240', 'score': 0.31}, {'connected_gene': 'TRIM32', 'score': 0.21}, {'connected_gene': 'ASTN2', 'score': 0.03}]
chr9 GH09I116701 116701401 116702931 0.49 [{'connected_gene': 'ASTN2-AS1', 'score': 15.89}, {'connected_gene': 'ASTN2', 'score': 5.26}, {'connected_gene': 'GC09P116705', 'score': 0.77}, {'connected_gene': 'TRIM32', 'score': 0.39}]
chr9 GH09I116623 116623077 116623732 0.2 [{'connected_gene': 'ASTN2-AS1', 'score': 6.05}, {'connected_gene': 'LOC105376240', 'score': 0.31}, {'connected_gene': 'TRIM32', 'score': 0.21}, {'connected_gene': 'ASTN2', 'score': 0.03}]
chr9 GH09I116697 116697740 116698413 0.31 [{'connected_gene': 'GC09P116705', 'score': 0.44}, {'connected_gene': 'TRIM32', 'score': 0.39}, {'connected_gene': 'ASTN2', 'score': 0.03}]
chr9 GH09I116703 116703845 116704190 0.22 [{'connected_gene': 'GC09P116705', 'score': 550.77}, {'connected_gene': 'TRIM32', 'score': 0.37}, {'connected_gene': 'ASTN2', 'score': 0.03}]