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
ENST00000436632 [[125560667, 125560818], [125585294, 125585476], [125588894, 125588965]] [[125560797, 125560818], [125585294, 125585476], [125588894, 125588965]]
ENST00000259467 [[125580622, 125582915], [125585294, 125585476], [125588894, 125589071], [125590749, 125590910]] [[125582363, 125582915], [125585294, 125585476], [125588894, 125589066]]
ENST00000394285 [[125582822, 125583098], [125585294, 125585476], [125588894, 125589031]] [[125583089, 125583098], [125585294, 125585476], [125588894, 125589031]]
NM_005388 [[125580375, 125582915], [125585294, 125585476], [125588894, 125589071], [125590749, 125590935]] [[125582363, 125582915], [125585294, 125585476], [125588894, 125589066]]
Promoter
Chrom Start End Description
chr9 125590800 125590811 CAGE_peak_2_at_PDCL_5end
chr9 125590818 125590898 CAGE_peak_1_at_PDCL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I122826 122826067 122829236 2.26 [{'connected_gene': 'PDCL', 'score': 550.77}, {'connected_gene': 'MORN5', 'score': 5.03}, {'connected_gene': 'STRBP', 'score': 4.21}, {'connected_gene': 'GC09M122816', 'score': 0.39}]
chr9 GH09I122809 122809382 122809551 0.46 [{'connected_gene': 'OR1K1', 'score': 0.44}, {'connected_gene': 'GC09M122816', 'score': 0.44}, {'connected_gene': 'PDCL', 'score': 0.37}]
chr9 GH09I122819 122819101 122822690 1.25 [{'connected_gene': 'OR1K1', 'score': 11.25}, {'connected_gene': 'OR5C1', 'score': 10.46}, {'connected_gene': 'SNORD90', 'score': 10.15}, {'connected_gene': 'GC09M122816', 'score': 0.77}, {'connected_gene': 'PDCL', 'score': 0.44}]
chr9 GH09I122800 122800067 122800126 0.5 [{'connected_gene': 'OR1K1', 'score': 550.77}, {'connected_gene': 'OR5C1', 'score': 0.39}, {'connected_gene': 'PDCL', 'score': 0.31}]
chr9 GH09I122835 122835181 122835860 0.58 [{'connected_gene': 'ZBTB6', 'score': 10.51}, {'connected_gene': 'SNORD90', 'score': 10.32}, {'connected_gene': 'OR1K1', 'score': 10.14}, {'connected_gene': 'KRT18P67', 'score': 0.77}, {'connected_gene': 'PDCL', 'score': 0.44}]
chr9 GH09I122811 122810001 122810401 0.74 [{'connected_gene': 'GC09M122816', 'score': 0.44}, {'connected_gene': 'OR1K1', 'score': 0.39}, {'connected_gene': 'PDCL', 'score': 0.37}]
chr9 GH09I122810 122810422 122810591 0.74 [{'connected_gene': 'GC09M122816', 'score': 0.44}, {'connected_gene': 'OR1K1', 'score': 0.39}, {'connected_gene': 'PDCL', 'score': 0.37}]
chr9 GH09I122815 122815470 122817232 0.99 [{'connected_gene': 'GC09M122816', 'score': 550.77}, {'connected_gene': 'OR5C1', 'score': 10.48}, {'connected_gene': 'SNORD90', 'score': 10.15}, {'connected_gene': 'PDCL', 'score': 0.39}, {'connected_gene': 'OR1K1', 'score': 0.37}]