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
ENST00000405312 [[43696853, 43697540], [43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43708037, 43708403], [43709624, 43709926]] [[43697523, 43697540], [43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43708037, 43708403], [43709624, 43709688]]
ENST00000433626 [[43696862, 43697540], [43698491, 43698746], [43699146, 43699425], [43708037, 43708403], [43709624, 43709820]] [[43697523, 43697540], [43698491, 43698746], [43699146, 43699425], [43708037, 43708403], [43709624, 43709688]]
ENST00000490769 [[43696889, 43697540], [43698491, 43699038]] None
ENST00000244295 [[43696902, 43697540], [43698491, 43698746], [43702148, 43702427], [43708037, 43708403], [43709624, 43709715]] [[43697523, 43697540], [43698491, 43698746], [43702148, 43702427], [43708037, 43708403], [43709624, 43709688]]
ENST00000597374 [[43697757, 43697968], [43698491, 43698746], [43699146, 43699425], [43702148, 43702231]] [[43697810, 43697968], [43698491, 43698746], [43699146, 43699425], [43702148, 43702231]]
ENST00000597349 [[43698106, 43698746], [43699146, 43699301]] None
ENST00000596907 [[43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43709624, 43709787]] [[43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43709624, 43709688]]
ENST00000599391 [[43698549, 43698746], [43702148, 43702427], [43709624, 43709703]] [[43698549, 43698746], [43702148, 43702427], [43709624, 43709688]]
ENST00000601041 [[43698557, 43698746], [43699146, 43699425], [43702148, 43702282], [43709624, 43709785]] [[43702187, 43702282], [43709624, 43709688]]
ENST00000599746 [[43698660, 43698746], [43699146, 43699425], [43708037, 43708403]] [[43698660, 43698746], [43699146, 43699425], [43708037, 43708403]]
ENST00000595949 [[43699150, 43699425], [43702148, 43702427], [43702749, 43703089], [43709624, 43709764]] [[43703030, 43703089], [43709624, 43709688]]
ENST00000599371 [[43700609, 43700979], [43702148, 43702426]] [[43700968, 43700979], [43702148, 43702426]]
ENST00000495316 [[43701895, 43702427], [43708037, 43708203]] None
ENST00000596199 [[43702066, 43702427], [43709624, 43709790]] None
ENST00000451895 [[43702148, 43702427], [43708037, 43708403], [43708914, 43709099], [43709624, 43709790]] [[43702148, 43702427], [43708037, 43708403], [43708914, 43709026]]
ENST00000600572 [[43702409, 43702427], [43708037, 43708403], [43708624, 43708766]] [[43702409, 43702427], [43708037, 43708254]]
ENST00000597912 [[43707240, 43708403], [43710320, 43711451]] None
NM_002780 [[43696853, 43697540], [43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43708037, 43708403], [43709624, 43709926]] [[43697523, 43697540], [43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43708037, 43708403], [43709624, 43709688]]
NM_213633 [[43696853, 43697540], [43698491, 43698746], [43702148, 43702427], [43708037, 43708403], [43709624, 43709926]] [[43697523, 43697540], [43698491, 43698746], [43702148, 43702427], [43708037, 43708403], [43709624, 43709688]]
NM_001276495 [[43696853, 43697540], [43698491, 43698746], [43699146, 43699425], [43708037, 43708403], [43709624, 43709926]] [[43697523, 43697540], [43698491, 43698746], [43699146, 43699425], [43708037, 43708403], [43709624, 43709688]]
NM_001316339 [[43696853, 43697540], [43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43709624, 43709926]] [[43697523, 43697540], [43698491, 43698746], [43699146, 43699425], [43702148, 43702427], [43709624, 43709688]]
Promoter
Chrom Start End Description
chr19 43698587 43698607 CAGE_peak_3_at_PSG4_5end
chr19 43698658 43698695 CAGE_peak_6_at_PSG4_5end
chr19 43702360 43702371 CAGE_peak_8_at_PSG4_5end
chr19 43708254 43708276 CAGE_peak_7_at_PSG4_5end
chr19 43708378 43708400 CAGE_peak_5_at_PSG4_5end
chr19 43709748 43709760 CAGE_peak_2_at_PSG4_5end
chr19 43709772 43709796 CAGE_peak_1_at_PSG4_5end
chr19 43709817 43709825 CAGE_peak_4_at_PSG4_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 GH19I043020 43020658 43024360 1.17 [{'connected_gene': 'PSG4', 'score': 16.51}, {'connected_gene': 'ENSG00000231412', 'score': 6.31}, {'connected_gene': 'GC19M043001', 'score': 0.77}, {'connected_gene': 'PSG11', 'score': 0.77}, {'connected_gene': 'ENSG00000282943', 'score': 0.25}]
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 GH19I042930 42930718 42935654 0.88 [{'connected_gene': 'PSG4', 'score': 7.29}, {'connected_gene': 'PAFAH1B3', 'score': 5.56}, {'connected_gene': 'PHLDB3', 'score': 4.59}, {'connected_gene': 'PSG7', 'score': 0.77}, {'connected_gene': 'PSG6', 'score': 0.39}]
chr19 GH19I042896 42896913 42899461 0.49 [{'connected_gene': 'PSG4', 'score': 4.78}, {'connected_gene': 'PSG1', 'score': 0.37}, {'connected_gene': 'PSG6', 'score': 0.34}]
chr19 GH19I042830 42830909 42834093 0.74 [{'connected_gene': 'PSG4', 'score': 5.36}, {'connected_gene': 'ENSG00000231412', 'score': 4.28}, {'connected_gene': 'GC19P042828', 'score': 0.77}, {'connected_gene': 'PSG8', 'score': 0.34}]
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 GH19I043004 43004869 43005118 0.2 [{'connected_gene': 'PSG4', 'score': 8.56}, {'connected_gene': 'GC19M043001', 'score': 0.39}, {'connected_gene': 'GC19M042970', 'score': 0.37}, {'connected_gene': 'ENSG00000282943', 'score': 0.31}]
chr19 GH19I043005 43005469 43006300 0.2 [{'connected_gene': 'PSG4', 'score': 8.67}, {'connected_gene': 'GC19M043001', 'score': 0.39}, {'connected_gene': 'GC19M042970', 'score': 0.34}, {'connected_gene': 'ENSG00000282943', 'score': 0.31}]
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 GH19I042849 42849760 42854049 1.16 [{'connected_gene': 'ZNF526', 'score': 12.78}, {'connected_gene': 'PSG4', 'score': 5.55}, {'connected_gene': 'ENSG00000231412', 'score': 4.65}, {'connected_gene': 'MEGF8', 'score': 4.05}, {'connected_gene': 'PSG10P', 'score': 0.77}, {'connected_gene': 'PSG8', 'score': 0.77}, {'connected_gene': 'GC19P042828', 'score': 0.34}]
chr19 GH19I042819 42819124 42821304 0.6 [{'connected_gene': 'PSG8-AS1', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 17.32}, {'connected_gene': 'XRCC1', 'score': 10.61}, {'connected_gene': 'ZNF574', 'score': 9.85}, {'connected_gene': 'PSG4', 'score': 5.39}, {'connected_gene': 'CEACAMP6', 'score': 0.29}, {'connected_gene': 'PSG8', 'score': 0.28}]
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}]