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
ENST00000366175 [[43670407, 43670994], [43674206, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690688]] [[43674246, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690557]]
ENST00000407356 [[43671894, 43672287], [43674206, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690642]] [[43674246, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690557]]
ENST00000407568 [[43671894, 43672355], [43674206, 43674290], [43688933, 43689299], [43690493, 43690646]] [[43674246, 43674290], [43688933, 43689299], [43690493, 43690557]]
ENST00000599812 [[43671894, 43672355], [43674206, 43674290], [43679366, 43679621], [43680021, 43680300], [43683030, 43683309], [43688933, 43689299], [43690493, 43690653]] [[43674246, 43674290], [43679366, 43679621], [43680021, 43680300], [43683030, 43683309], [43688933, 43689299], [43690493, 43690557]]
ENST00000342951 [[43671894, 43672355], [43674206, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690674]] [[43674246, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690557]]
ENST00000401942 [[43671923, 43672287], [43674206, 43674723]] None
ENST00000599214 [[43672273, 43672355], [43674206, 43674717]] None
ENST00000404580 [[43678274, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690646]] [[43679328, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690557]]
ENST00000600817 [[43679814, 43680300], [43688933, 43689299], [43690493, 43690646]] None
ENST00000489220 [[43684498, 43684748], [43688933, 43689087]] None
ENST00000401992 [[43687433, 43687623], [43688933, 43689299], [43690493, 43690658]] None
NM_002781 [[43671894, 43672355], [43674206, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690688]] [[43674246, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690557]]
NM_001130014 [[43671894, 43672287], [43674206, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690688]] [[43674246, 43674290], [43679366, 43679621], [43680021, 43680300], [43688933, 43689299], [43690493, 43690557]]
Promoter
Chrom Start End Description
chr19 43690649 43690663 CAGE_peak_2_at_PSG5_5end
chr19 43690679 43690695 CAGE_peak_1_at_PSG5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I043077 43077456 43080567 0.72 [{'connected_gene': 'ZNF45', 'score': 16.11}, {'connected_gene': 'ZNF155', 'score': 13.16}, {'connected_gene': 'ZNF526', 'score': 12.78}, {'connected_gene': 'PSG4', 'score': 11.0}, {'connected_gene': 'ZNF284', 'score': 10.45}, {'connected_gene': 'ENSG00000231412', 'score': 6.18}, {'connected_gene': 'PSG2', 'score': 0.77}, {'connected_gene': 'GC19M043036', 'score': 0.28}, {'connected_gene': 'GC19P043035', 'score': 0.26}, {'connected_gene': 'ENSG00000282943', 'score': 0.15}, {'connected_gene': 'PSG5', 'score': 0.14}]
chr19 GH19I043119 43119189 43121192 0.63 [{'connected_gene': 'ZNF45', 'score': 27.08}, {'connected_gene': 'ZNF526', 'score': 21.03}, {'connected_gene': 'ZNF224', 'score': 15.39}, {'connected_gene': 'ZNF225', 'score': 14.19}, {'connected_gene': 'ZNF155', 'score': 13.17}, {'connected_gene': 'PSG4', 'score': 11.53}, {'connected_gene': 'XRCC1', 'score': 10.78}, {'connected_gene': 'ZNF284', 'score': 10.45}, {'connected_gene': 'CD177', 'score': 4.34}, {'connected_gene': 'GC19P043117', 'score': 0.77}, {'connected_gene': 'ENSG00000227606', 'score': 0.29}, {'connected_gene': 'PSG5', 'score': 0.2}, {'connected_gene': 'GC19P043035', 'score': 0.17}, {'connected_gene': 'ENSG00000282943', 'score': 0.11}]
chr19 GH19I043263 43263938 43269598 1.58 [{'connected_gene': 'PSG9', 'score': 550.77}, {'connected_gene': 'PSG4', 'score': 24.06}, {'connected_gene': 'LOC100505715', 'score': 15.85}, {'connected_gene': 'ZNF428', 'score': 13.66}, {'connected_gene': 'ZNF575', 'score': 13.43}, {'connected_gene': 'LOC100379224', 'score': 12.64}, {'connected_gene': 'MEGF8', 'score': 12.24}, {'connected_gene': 'ZNF404', 'score': 11.62}, {'connected_gene': 'ZNF576', 'score': 11.3}, {'connected_gene': 'PSG5', 'score': 11.15}, {'connected_gene': 'IRGQ', 'score': 9.89}, {'connected_gene': 'ENSG00000231412', 'score': 8.21}, {'connected_gene': 'CEACAMP10', 'score': 0.37}, {'connected_gene': 'LOC284344', 'score': 0.37}]
chr19 GH19I043180 43180897 43187276 1.57 [{'connected_gene': 'PSG5', 'score': 566.96}, {'connected_gene': 'PSG4', 'score': 52.75}, {'connected_gene': 'ZNF45', 'score': 38.42}, {'connected_gene': 'ZNF225', 'score': 35.58}, {'connected_gene': 'ZNF283', 'score': 26.55}, {'connected_gene': 'ZNF155', 'score': 23.04}, {'connected_gene': 'ZNF221', 'score': 22.86}, {'connected_gene': 'ZNF223', 'score': 20.95}, {'connected_gene': 'ZNF226', 'score': 20.27}, {'connected_gene': 'ZNF234', 'score': 19.53}, {'connected_gene': 'ZNF576', 'score': 13.73}, {'connected_gene': 'ZNF224', 'score': 13.68}, {'connected_gene': 'ZNF284', 'score': 11.77}, {'connected_gene': 'ZNF526', 'score': 10.82}, {'connected_gene': 'PINLYP', 'score': 10.73}, {'connected_gene': 'IRGQ', 'score': 9.96}, {'connected_gene': 'ENSG00000231412', 'score': 6.78}, {'connected_gene': 'LOC100421300', 'score': 0.77}]
chr19 GH19I043200 43200105 43206293 1.6 [{'connected_gene': 'PSG4', 'score': 607.12}, {'connected_gene': 'ZNF223', 'score': 49.22}, {'connected_gene': 'ZNF576', 'score': 48.39}, {'connected_gene': 'ZNF221', 'score': 45.25}, {'connected_gene': 'ZNF225', 'score': 42.47}, {'connected_gene': 'ZNF283', 'score': 42.0}, {'connected_gene': 'ZNF226', 'score': 40.82}, {'connected_gene': 'ZNF45', 'score': 33.68}, {'connected_gene': 'LOC101928063', 'score': 23.4}, {'connected_gene': 'ENSG00000267191', 'score': 23.23}, {'connected_gene': 'ZNF284', 'score': 19.87}, {'connected_gene': 'ZNF224', 'score': 13.68}, {'connected_gene': 'ZNF234', 'score': 11.46}, {'connected_gene': 'ZNF155', 'score': 11.23}, {'connected_gene': 'PINLYP', 'score': 10.74}, {'connected_gene': 'ZNF222', 'score': 10.56}, {'connected_gene': 'ZNF404', 'score': 10.52}, {'connected_gene': 'IRGQ', 'score': 9.96}, {'connected_gene': 'PSG5', 'score': 6.41}, {'connected_gene': 'ENSG00000231412', 'score': 6.07}]
chr19 GH19I043149 43149969 43150138 0.31 [{'connected_gene': 'PSG4', 'score': 10.14}, {'connected_gene': 'ENSG00000227606', 'score': 0.77}, {'connected_gene': 'GC19P043117', 'score': 0.29}, {'connected_gene': 'PSG5', 'score': 0.28}, {'connected_gene': 'GC19P043035', 'score': 0.13}, {'connected_gene': 'ENSG00000282943', 'score': 0.09}]
chr19 GH19I043147 43147630 43149552 0.43 [{'connected_gene': 'PSG4', 'score': 48.35}, {'connected_gene': 'PSG5', 'score': 10.64}, {'connected_gene': 'ENSG00000227606', 'score': 0.77}, {'connected_gene': 'GC19P043117', 'score': 0.29}, {'connected_gene': 'GC19P043035', 'score': 0.14}, {'connected_gene': 'ENSG00000282943', 'score': 0.09}]
chr19 GH19I043061 43061449 43061678 0.2 [{'connected_gene': 'PSG4', 'score': 5.33}, {'connected_gene': 'GC19M043036', 'score': 0.37}, {'connected_gene': 'PSG2', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.31}, {'connected_gene': 'ENSG00000282943', 'score': 0.18}, {'connected_gene': 'PSG5', 'score': 0.13}]
chr19 GH19I042874 42874129 42877976 1.03 [{'connected_gene': 'PSG4', 'score': 5.17}, {'connected_gene': 'ENSG00000231412', 'score': 5.17}, {'connected_gene': 'MEGF8', 'score': 4.31}, {'connected_gene': 'PSG5', 'score': 2.02}, {'connected_gene': 'GC19P042872', 'score': 0.77}, {'connected_gene': 'PSG1', 'score': 0.77}]
chr19 GH19I043082 43082658 43082717 0.68 [{'connected_gene': 'PSG2', 'score': 550.77}, {'connected_gene': 'PSG4', 'score': 9.7}, {'connected_gene': 'GC19M043036', 'score': 0.28}, {'connected_gene': 'GC19P043035', 'score': 0.25}, {'connected_gene': 'PSG5', 'score': 0.15}, {'connected_gene': 'ENSG00000282943', 'score': 0.14}]
chr19 GH19I043060 43059589 43059738 0.2 [{'connected_gene': 'POU2F2', 'score': 4.27}, {'connected_gene': 'GC19M043036', 'score': 0.37}, {'connected_gene': 'PSG2', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.34}, {'connected_gene': 'ENSG00000282943', 'score': 0.18}, {'connected_gene': 'PSG5', 'score': 0.13}]
chr19 GH19I042760 42760143 42763591 1.17 [{'connected_gene': 'PSG8', 'score': 15.87}, {'connected_gene': 'PSG5', 'score': 2.26}, {'connected_gene': 'CEACAM1', 'score': 1.43}, {'connected_gene': 'GC19M042749', 'score': 0.44}, {'connected_gene': 'PSG3', 'score': 0.34}]
chr19 GH19I043126 43126596 43130222 0.43 [{'connected_gene': 'ENSG00000231412', 'score': 7.6}, {'connected_gene': 'PSG4', 'score': 6.91}, {'connected_gene': 'PSG5', 'score': 4.61}, {'connected_gene': 'GC19P043117', 'score': 0.39}, {'connected_gene': 'ENSG00000227606', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.16}, {'connected_gene': 'ENSG00000282943', 'score': 0.1}]
chr19 GH19I043059 43059829 43061384 0.2 [{'connected_gene': 'ENSG00000231412', 'score': 5.76}, {'connected_gene': 'PSG4', 'score': 5.72}, {'connected_gene': 'GC19M043036', 'score': 0.37}, {'connected_gene': 'PSG2', 'score': 0.34}, {'connected_gene': 'GC19P043035', 'score': 0.31}, {'connected_gene': 'ENSG00000282943', 'score': 0.18}, {'connected_gene': 'PSG5', 'score': 0.13}]