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
ENST00000433218 [[19040009, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19051129, 19051161]] [[19040251, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000221222 [[19040011, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858]] [[19040251, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000539827 [[19040011, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19050444]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000392351 [[19040011, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19051859, 19052023]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000594794 [[19040014, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042833], [19049777, 19049858], [19051859, 19051999]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042833], [19049777, 19049791]]
ENST00000594439 [[19040247, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000542541 [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19050659, 19051113]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000355887 [[19040251, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19051859, 19051999]] [[19040251, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000595756 [[19042048, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043856]] None
ENST00000596482 [[19042394, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19052001, 19052070]] [[19042394, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000600077 [[19043813, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19051129, 19051213], [19051859, 19051931]] [[19043813, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
ENST00000599808 [[19049197, 19049693], [19049777, 19049836]] None
ENST00000599097 [[19049207, 19049293], [19049536, 19049693], [19049777, 19049858], [19051129, 19051575]] [[19049207, 19049293], [19049536, 19049693], [19049777, 19049791]]
NM_001145724 [[19040009, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
NR_027297 [[19040009, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19050444]] None
NM_001145722 [[19040009, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19050659, 19051113]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
NM_001145721 [[19040009, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19051129, 19051161]] [[19040251, 19040434], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
NM_004838 [[19040009, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049858], [19051859, 19052041]] [[19040251, 19040443], [19042133, 19042220], [19042317, 19042434], [19042784, 19042941], [19043732, 19043854], [19045111, 19045219], [19049161, 19049293], [19049536, 19049693], [19049777, 19049791]]
Promoter
Chrom Start End Description
chr19 19049848 19049857 CAGE_peak_5_at_HOMER3_5end
chr19 19051103 19051123 CAGE_peak_4_at_HOMER3_5end
chr19 19051927 19051934 CAGE_peak_3_at_HOMER3_5end
chr19 19051972 19051983 CAGE_peak_2_at_HOMER3_5end
chr19 19051993 19052073 CAGE_peak_1_at_HOMER3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018915 18915408 18916155 0.56 [{'connected_gene': 'HOMER3', 'score': 6.88}, {'connected_gene': 'PIR40504', 'score': 0.77}, {'connected_gene': 'COPE', 'score': 0.77}, {'connected_gene': 'ENSG00000268193', 'score': 0.37}]
chr19 GH19I019039 19039120 19041227 0.96 [{'connected_gene': 'TMEM161A', 'score': 29.03}, {'connected_gene': 'SLC25A42', 'score': 12.81}, {'connected_gene': 'MEF2B', 'score': 10.58}, {'connected_gene': 'RFXANK', 'score': 10.57}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.57}, {'connected_gene': 'BORCS8', 'score': 10.57}, {'connected_gene': 'HOMER3', 'score': 10.51}, {'connected_gene': 'HAPLN4', 'score': 10.31}, {'connected_gene': 'ARMC6', 'score': 5.7}, {'connected_gene': 'SUGP2', 'score': 4.73}, {'connected_gene': 'GC19M019046', 'score': 0.44}]
chr19 GH19I019402 19402800 19408068 2.56 [{'connected_gene': 'GATAD2A', 'score': 580.59}, {'connected_gene': 'NDUFA13', 'score': 36.06}, {'connected_gene': 'ENSG00000268030', 'score': 18.23}, {'connected_gene': 'UPF1', 'score': 17.7}, {'connected_gene': 'ATP13A1', 'score': 15.79}, {'connected_gene': 'ENSG00000268938', 'score': 14.69}, {'connected_gene': 'ELL', 'score': 13.68}, {'connected_gene': 'MAU2', 'score': 13.1}, {'connected_gene': 'ENSG00000269191', 'score': 12.17}, {'connected_gene': 'TM6SF2', 'score': 11.36}, {'connected_gene': 'BNIP3P16', 'score': 10.75}, {'connected_gene': 'ZNF90', 'score': 10.42}, {'connected_gene': 'NR2C2AP', 'score': 10.13}, {'connected_gene': 'YJEFN3', 'score': 4.87}, {'connected_gene': 'GMIP', 'score': 3.09}, {'connected_gene': 'HOMER3', 'score': 1.79}, {'connected_gene': 'RFXANK', 'score': 1.49}, {'connected_gene': 'ENSG00000267234', 'score': 0.77}, {'connected_gene': 'GC19P019700', 'score': 0.31}]
chr19 GH19I018966 18966372 18973477 1.41 [{'connected_gene': 'GATAD2A', 'score': 14.85}, {'connected_gene': 'SUGP2', 'score': 11.68}, {'connected_gene': 'TMEM161A', 'score': 9.31}, {'connected_gene': 'ATP13A1', 'score': 5.69}, {'connected_gene': 'SLC25A42', 'score': 4.29}, {'connected_gene': 'HOMER3', 'score': 2.99}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'MAU2', 'score': 1.58}, {'connected_gene': 'RFXANK', 'score': 1.34}, {'connected_gene': 'GC19M018978', 'score': 0.44}, {'connected_gene': 'RN7SL70P', 'score': 0.39}]
chr19 GH19I018918 18918200 18920839 2.06 [{'connected_gene': 'DDX49', 'score': 550.77}, {'connected_gene': 'COPE', 'score': 550.77}, {'connected_gene': 'UPF1', 'score': 23.26}, {'connected_gene': 'IQCN', 'score': 21.69}, {'connected_gene': 'ENSG00000268030', 'score': 18.93}, {'connected_gene': 'ATP13A1', 'score': 16.82}, {'connected_gene': 'NR2C2AP', 'score': 15.45}, {'connected_gene': 'ENSG00000268938', 'score': 13.88}, {'connected_gene': 'ENSG00000269191', 'score': 12.55}, {'connected_gene': 'ENSG00000267481', 'score': 12.3}, {'connected_gene': 'TMEM161A', 'score': 11.98}, {'connected_gene': 'MAU2', 'score': 11.92}, {'connected_gene': 'ELL', 'score': 10.6}, {'connected_gene': 'MEF2B', 'score': 10.32}, {'connected_gene': 'GDF1', 'score': 7.4}, {'connected_gene': 'HOMER3', 'score': 5.58}, {'connected_gene': 'LPAR2', 'score': 4.27}, {'connected_gene': 'ENSG00000268193', 'score': 0.39}]
chr19 GH19I018893 18893193 18896401 2.16 [{'connected_gene': 'GDF1', 'score': 590.1}, {'connected_gene': 'CERS1', 'score': 550.77}, {'connected_gene': 'TMEM59L', 'score': 8.37}, {'connected_gene': 'CRTC1', 'score': 7.81}, {'connected_gene': 'HAPLN4', 'score': 5.64}, {'connected_gene': 'HOMER3', 'score': 5.27}, {'connected_gene': 'NCAN', 'score': 4.07}, {'connected_gene': 'SUGP2', 'score': 2.99}, {'connected_gene': 'KLHL26', 'score': 2.23}, {'connected_gene': 'SLC25A42', 'score': 1.39}, {'connected_gene': 'ENSG00000269694', 'score': 0.39}, {'connected_gene': 'GC19M018886', 'score': 0.39}]
chr19 GH19I018951 18951296 18952991 0.74 [{'connected_gene': 'NR2C2AP', 'score': 14.38}, {'connected_gene': 'HOMER3-AS1', 'score': 5.4}, {'connected_gene': 'RN7SL70P', 'score': 0.44}, {'connected_gene': 'HOMER3', 'score': 0.39}]
chr19 GH19I018482 18482802 18484200 1.16 [{'connected_gene': 'IFI30', 'score': 21.96}, {'connected_gene': 'SSBP4', 'score': 11.9}, {'connected_gene': 'LRRC25', 'score': 3.53}, {'connected_gene': 'ARRDC2', 'score': 3.28}, {'connected_gene': 'ELL', 'score': 2.12}, {'connected_gene': 'HOMER3', 'score': 1.59}, {'connected_gene': 'GC19M018475', 'score': 0.44}]
chr19 GH19I018939 18939374 18941751 1.77 [{'connected_gene': 'HOMER3-AS1', 'score': 585.94}, {'connected_gene': 'HOMER3', 'score': 550.77}, {'connected_gene': 'MAU2', 'score': 4.23}]
chr19 GH19I018940 18939036 18939095 0.5 [{'connected_gene': 'HOMER3-AS1', 'score': 550.77}, {'connected_gene': 'HOMER3', 'score': 550.77}, {'connected_gene': 'ENSG00000268193', 'score': 0.77}]
chr19 GH19I019042 19042783 19043607 0.2 [{'connected_gene': 'MEF2B', 'score': 10.52}, {'connected_gene': 'RFXANK', 'score': 10.51}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.51}, {'connected_gene': 'BORCS8', 'score': 10.51}, {'connected_gene': 'HOMER3', 'score': 10.5}, {'connected_gene': 'SLC25A42', 'score': 8.87}, {'connected_gene': 'TMEM161A', 'score': 6.59}, {'connected_gene': 'GC19M019046', 'score': 0.44}, {'connected_gene': 'SUGP2', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.44}]
chr19 GH19I018931 18931393 18933525 0.97 [{'connected_gene': 'ENSG00000268193', 'score': 550.77}, {'connected_gene': 'NR2C2AP', 'score': 14.37}, {'connected_gene': 'ENSG00000269694', 'score': 5.2}, {'connected_gene': 'HOMER3', 'score': 0.44}, {'connected_gene': 'DDX49', 'score': 0.39}]

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