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
ENST00000369878 [[104678049, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104831530, 104831596], [104835842, 104836027], [104836727, 104849978]] [[104678237, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104831530, 104831596], [104835842, 104836027], [104836727, 104836937]]
ENST00000433628 [[104678113, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104835842, 104836027], [104836727, 104838108]] [[104678237, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104835842, 104836027], [104836727, 104836937]]
ENST00000369875 [[104678073, 104679858], [104687101, 104687375]] [[104678237, 104679858], [104687101, 104687139]]
ENST00000475511 [[104828192, 104828479], [104835842, 104836027], [104836727, 104836786]] None
NM_199076 [[104678074, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104835842, 104836027], [104836727, 104838344]] [[104678237, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104835842, 104836027], [104836727, 104836937]]
NM_017649 [[104678074, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104831530, 104831596], [104835842, 104836027], [104836727, 104838344]] [[104678237, 104679858], [104809463, 104809607], [104814085, 104814223], [104816551, 104816721], [104828385, 104828479], [104831530, 104831596], [104835842, 104836027], [104836727, 104836937]]
NM_199077 [[104678074, 104679858], [104687101, 104687375]] [[104678237, 104679858], [104687101, 104687139]]
Promoter
Chrom Start End Description
chr10 104678032 104678094 CAGE_peak_1_at_CNNM2_5end
chr10 104678102 104678119 CAGE_peak_3_at_CNNM2_5end
chr10 104678244 104678271 CAGE_peak_4_at_CNNM2_5end
chr10 104678290 104678316 CAGE_peak_2_at_CNNM2_5end
chr10 104679225 104679235 CAGE_peak_8_at_CNNM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103226 103226654 103233678 1.11 [{'connected_gene': 'INA', 'score': 11.36}, {'connected_gene': 'RNU11-3P', 'score': 10.95}, {'connected_gene': 'CNNM2', 'score': 10.86}, {'connected_gene': 'PCGF6', 'score': 10.73}, {'connected_gene': 'PTGES3P4', 'score': 10.17}, {'connected_gene': 'PFN1P11', 'score': 10.17}, {'connected_gene': 'CYP17A1', 'score': 10.17}, {'connected_gene': 'AS3MT', 'score': 10.07}, {'connected_gene': 'BORCS7', 'score': 9.87}, {'connected_gene': 'ST13P13', 'score': 0.39}, {'connected_gene': 'RPEL1', 'score': 0.37}]
chr10 GH10I103244 103244601 103244933 0.96 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}, {'connected_gene': 'ST13P13', 'score': 0.31}]
chr10 GH10I103245 103245935 103245994 0.5 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}]
chr10 GH10I103246 103246002 103246199 0.2 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}]
chr10 GH10I103038 103038526 103042618 0.97 [{'connected_gene': 'AS3MT', 'score': 33.82}, {'connected_gene': 'CNNM2', 'score': 11.44}, {'connected_gene': 'INA', 'score': 10.37}, {'connected_gene': 'RNU11-3P', 'score': 10.24}, {'connected_gene': 'ARL3', 'score': 9.53}, {'connected_gene': 'SFXN2', 'score': 9.53}, {'connected_gene': 'ENSG00000278498', 'score': 0.39}, {'connected_gene': 'PIR62550', 'score': 0.26}]
chr10 GH10I102962 102962933 102966720 0.93 [{'connected_gene': 'AS3MT', 'score': 35.85}, {'connected_gene': 'CNNM2', 'score': 11.11}, {'connected_gene': 'INA', 'score': 10.3}, {'connected_gene': 'RNU11-3P', 'score': 10.18}, {'connected_gene': 'BORCS7', 'score': 10.08}, {'connected_gene': 'MARCKSL1P1', 'score': 4.37}, {'connected_gene': 'GC10M102937', 'score': 0.31}, {'connected_gene': 'GC10P103015', 'score': 0.25}]
chr10 GH10I103043 103043587 103046430 1.17 [{'connected_gene': 'AS3MT', 'score': 27.92}, {'connected_gene': 'CNNM2', 'score': 11.44}, {'connected_gene': 'ARL3', 'score': 9.54}, {'connected_gene': 'SFXN2', 'score': 9.54}, {'connected_gene': 'ENSG00000278498', 'score': 0.37}, {'connected_gene': 'PIR62550', 'score': 0.28}]
chr10 GH10I102972 102972255 102973433 0.43 [{'connected_gene': 'AS3MT', 'score': 32.05}, {'connected_gene': 'CNNM2', 'score': 10.82}, {'connected_gene': 'RNU11-3P', 'score': 10.18}, {'connected_gene': 'GC10M102937', 'score': 0.29}, {'connected_gene': 'GC10P103015', 'score': 0.26}]
chr10 GH10I102987 102987780 102990129 1.19 [{'connected_gene': 'AS3MT', 'score': 36.97}, {'connected_gene': 'CNNM2', 'score': 10.45}, {'connected_gene': 'RNU11-3P', 'score': 9.4}, {'connected_gene': 'GC10P103015', 'score': 0.34}, {'connected_gene': 'GC10M102937', 'score': 0.23}]
chr10 GH10I103077 103077544 103078460 0.2 [{'connected_gene': 'AS3MT', 'score': 32.27}, {'connected_gene': 'PIR62550', 'score': 0.77}, {'connected_gene': 'ENSG00000278498', 'score': 0.23}, {'connected_gene': 'CNNM2', 'score': 0.1}]
chr10 GH10I103110 103110445 103112443 0.99 [{'connected_gene': 'AS3MT', 'score': 37.06}, {'connected_gene': 'PDCD11', 'score': 21.99}, {'connected_gene': 'PPRC1', 'score': 21.43}, {'connected_gene': 'CNNM2', 'score': 11.19}, {'connected_gene': 'GBF1', 'score': 11.16}, {'connected_gene': 'PTGES3P4', 'score': 10.91}, {'connected_gene': 'PFN1P11', 'score': 10.91}, {'connected_gene': 'CYP17A1', 'score': 10.9}, {'connected_gene': 'RNU11-3P', 'score': 10.55}, {'connected_gene': 'MARCKSL1P1', 'score': 10.15}, {'connected_gene': 'PIR32358', 'score': 0.39}, {'connected_gene': 'GC10M103094', 'score': 0.39}, {'connected_gene': 'NT5C2', 'score': 0.18}]
chr10 GH10I102811 102811655 102817999 1.37 [{'connected_gene': 'AS3MT', 'score': 33.79}, {'connected_gene': 'CYP17A1', 'score': 11.25}, {'connected_gene': 'PTGES3P4', 'score': 11.21}, {'connected_gene': 'PFN1P11', 'score': 11.21}, {'connected_gene': 'ARL3', 'score': 10.13}, {'connected_gene': 'SFXN2', 'score': 10.13}, {'connected_gene': 'CNNM2', 'score': 10.06}, {'connected_gene': 'WBP1L', 'score': 7.79}, {'connected_gene': 'BORCS7', 'score': 6.47}, {'connected_gene': 'C10orf95', 'score': 4.66}, {'connected_gene': 'RNU6-1231P', 'score': 0.39}, {'connected_gene': 'CYP17A1-AS1', 'score': 0.37}]
chr10 GH10I102785 102785073 102787325 1.28 [{'connected_gene': 'AS3MT', 'score': 37.71}, {'connected_gene': 'CYP17A1', 'score': 11.58}, {'connected_gene': 'PTGES3P4', 'score': 11.57}, {'connected_gene': 'PFN1P11', 'score': 11.57}, {'connected_gene': 'BORCS7', 'score': 11.46}, {'connected_gene': 'CNNM2', 'score': 10.09}, {'connected_gene': 'SFXN2', 'score': 8.66}, {'connected_gene': 'NFKB2', 'score': 8.46}, {'connected_gene': 'NT5C2', 'score': 3.92}, {'connected_gene': 'RNU6-1231P', 'score': 0.37}, {'connected_gene': 'GC10P102745', 'score': 0.26}, {'connected_gene': 'GC10P102744', 'score': 0.26}, {'connected_gene': 'WBP1L', 'score': 0.25}]
chr10 GH10I103069 103069601 103071076 0.98 [{'connected_gene': 'AS3MT', 'score': 35.82}, {'connected_gene': 'BORCS7', 'score': 12.4}, {'connected_gene': 'CNNM2', 'score': 12.04}, {'connected_gene': 'INA', 'score': 10.31}, {'connected_gene': 'RNU11-3P', 'score': 10.12}, {'connected_gene': 'ARL3', 'score': 9.79}, {'connected_gene': 'SFXN2', 'score': 9.79}, {'connected_gene': 'MARCKSL1P1', 'score': 8.29}, {'connected_gene': 'PIR62550', 'score': 0.39}, {'connected_gene': 'ENSG00000278498', 'score': 0.26}]
chr10 GH10I103052 103052891 103055739 1.18 [{'connected_gene': 'AS3MT', 'score': 36.94}, {'connected_gene': 'BORCS7', 'score': 9.81}, {'connected_gene': 'ENSG00000278498', 'score': 0.31}, {'connected_gene': 'PIR62550', 'score': 0.31}, {'connected_gene': 'CNNM2', 'score': 0.12}]
chr10 GH10I102927 102927401 102928093 0.88 [{'connected_gene': 'AS3MT', 'score': 10.4}, {'connected_gene': 'PTGES3P4', 'score': 9.87}, {'connected_gene': 'PFN1P11', 'score': 9.87}, {'connected_gene': 'CYP17A1', 'score': 9.86}, {'connected_gene': 'CNNM2', 'score': 0.44}, {'connected_gene': 'GC10M102937', 'score': 0.39}]
chr10 GH10I103020 103020984 103023087 1.01 [{'connected_gene': 'AS3MT', 'score': 33.95}, {'connected_gene': 'RNU11-3P', 'score': 9.83}, {'connected_gene': 'PDCD11', 'score': 1.59}, {'connected_gene': 'ENSG00000278498', 'score': 0.44}, {'connected_gene': 'GC10P103015', 'score': 0.44}, {'connected_gene': 'CNNM2', 'score': 0.15}]
chr10 GH10I102738 102738726 102739400 1.03 [{'connected_gene': 'WBP1L', 'score': 550.77}, {'connected_gene': 'ARL3', 'score': 16.86}, {'connected_gene': 'SFXN2', 'score': 11.77}, {'connected_gene': 'PFN1P11', 'score': 10.37}, {'connected_gene': 'BORCS7', 'score': 10.36}, {'connected_gene': 'CNNM2', 'score': 9.96}]
chr10 GH10I102743 102743084 102745733 2.25 [{'connected_gene': 'WBP1L', 'score': 562.36}, {'connected_gene': 'GC10P102745', 'score': 550.77}, {'connected_gene': 'GC10P102744', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 30.75}, {'connected_gene': 'SFXN2', 'score': 29.21}, {'connected_gene': 'AS3MT', 'score': 24.97}, {'connected_gene': 'PCGF6', 'score': 22.86}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'PPRC1', 'score': 15.1}, {'connected_gene': 'NOLC1', 'score': 13.97}, {'connected_gene': 'CYP17A1', 'score': 11.68}, {'connected_gene': 'PTGES3P4', 'score': 11.67}, {'connected_gene': 'PFN1P11', 'score': 11.67}, {'connected_gene': 'ARL3', 'score': 11.13}, {'connected_gene': 'CNNM2', 'score': 10.07}, {'connected_gene': 'GBF1', 'score': 9.73}, {'connected_gene': 'RNU11-3P', 'score': 8.91}, {'connected_gene': 'RNU6-1231P', 'score': 0.22}]
chr10 GH10I102772 102772772 102784599 2.13 [{'connected_gene': 'WBP1L', 'score': 561.36}, {'connected_gene': 'SFXN2', 'score': 29.19}, {'connected_gene': 'AS3MT', 'score': 19.24}, {'connected_gene': 'ARL3', 'score': 15.2}, {'connected_gene': 'PPRC1', 'score': 13.49}, {'connected_gene': 'NFKB2', 'score': 13.12}, {'connected_gene': 'LDB1', 'score': 12.34}, {'connected_gene': 'PDCD11', 'score': 11.82}, {'connected_gene': 'BORCS7', 'score': 11.53}, {'connected_gene': 'CYP17A1', 'score': 11.47}, {'connected_gene': 'PTGES3P4', 'score': 11.45}, {'connected_gene': 'PFN1P11', 'score': 11.45}, {'connected_gene': 'CALHM2', 'score': 10.48}, {'connected_gene': 'CNNM2', 'score': 10.18}, {'connected_gene': 'HPS6', 'score': 9.88}, {'connected_gene': 'CYP17A1-AS1', 'score': 6.16}, {'connected_gene': 'NT5C2', 'score': 2.56}, {'connected_gene': 'RNU6-1231P', 'score': 0.31}, {'connected_gene': 'GC10P102745', 'score': 0.29}, {'connected_gene': 'GC10P102744', 'score': 0.29}]
chr10 GH10I102916 102916495 102920802 2.06 [{'connected_gene': 'CNNM2', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 37.09}, {'connected_gene': 'PDCD11', 'score': 26.85}, {'connected_gene': 'GBF1', 'score': 18.59}, {'connected_gene': 'TAF5', 'score': 16.85}, {'connected_gene': 'PPRC1', 'score': 15.33}, {'connected_gene': 'C10orf76', 'score': 11.08}, {'connected_gene': 'ENSG00000260461', 'score': 10.21}, {'connected_gene': 'LDB1', 'score': 10.08}, {'connected_gene': 'MARCKSL1P1', 'score': 9.2}, {'connected_gene': 'WBP1L', 'score': 4.44}, {'connected_gene': 'GC10M102937', 'score': 0.37}]
chr10 GH10I103009 103009672 103009954 0.26 [{'connected_gene': 'CNNM2', 'score': 10.78}, {'connected_gene': 'PTGES3P4', 'score': 10.68}, {'connected_gene': 'PFN1P11', 'score': 10.68}, {'connected_gene': 'CYP17A1', 'score': 10.68}, {'connected_gene': 'RNU11-3P', 'score': 9.86}, {'connected_gene': 'AS3MT', 'score': 8.46}, {'connected_gene': 'MARCKSL1P1', 'score': 7.89}, {'connected_gene': 'INA', 'score': 1.83}, {'connected_gene': 'GC10P103015', 'score': 0.77}, {'connected_gene': 'GC10M102937', 'score': 0.19}]
chr10 GH10I102994 102994722 102994985 0.38 [{'connected_gene': 'CNNM2', 'score': 11.0}, {'connected_gene': 'RNU11-3P', 'score': 9.68}, {'connected_gene': 'GC10P103015', 'score': 0.37}, {'connected_gene': 'GC10M102937', 'score': 0.22}]
chr10 GH10I102998 102998064 102998213 0.9 [{'connected_gene': 'CNNM2', 'score': 10.82}, {'connected_gene': 'RNU11-3P', 'score': 10.17}, {'connected_gene': 'GC10P103015', 'score': 0.37}, {'connected_gene': 'GC10M102937', 'score': 0.22}]
chr10 GH10I102672 102672590 102679902 1.37 [{'connected_gene': 'ARL3', 'score': 25.75}, {'connected_gene': 'SFXN2', 'score': 22.78}, {'connected_gene': 'MFSD13A', 'score': 15.73}, {'connected_gene': 'CNNM2', 'score': 9.67}, {'connected_gene': 'BORCS7', 'score': 7.99}, {'connected_gene': 'RPARP-AS1', 'score': 5.01}, {'connected_gene': 'GC10M102383', 'score': 0.37}, {'connected_gene': 'GC10M102382', 'score': 0.37}, {'connected_gene': 'LOC105378460', 'score': 0.34}]
chr10 GH10I102828 102828165 102828564 0.46 [{'connected_gene': 'BORCS7', 'score': 11.84}, {'connected_gene': 'AS3MT', 'score': 11.5}, {'connected_gene': 'CNNM2', 'score': 10.49}, {'connected_gene': 'ARL3', 'score': 10.1}, {'connected_gene': 'SFXN2', 'score': 10.1}, {'connected_gene': 'RNU11-3P', 'score': 9.7}, {'connected_gene': 'CYP17A1-AS1', 'score': 0.77}, {'connected_gene': 'RNU6-1231P', 'score': 0.34}]
chr10 GH10I103237 103237885 103242851 1.46 [{'connected_gene': 'BORCS7', 'score': 19.96}, {'connected_gene': 'NT5C2', 'score': 19.81}, {'connected_gene': 'AS3MT', 'score': 17.47}, {'connected_gene': 'INA', 'score': 11.03}, {'connected_gene': 'CNNM2', 'score': 10.86}, {'connected_gene': 'PFN1P11', 'score': 10.79}, {'connected_gene': 'PTGES3P4', 'score': 10.67}, {'connected_gene': 'CYP17A1', 'score': 10.67}, {'connected_gene': 'RNU11-3P', 'score': 10.52}, {'connected_gene': 'ARL3', 'score': 9.13}, {'connected_gene': 'SFXN2', 'score': 9.13}, {'connected_gene': 'CALHM2', 'score': 7.72}, {'connected_gene': 'RPEL1', 'score': 0.44}, {'connected_gene': 'ST13P13', 'score': 0.34}]
chr10 GH10I102734 102734831 102735618 0.81 [{'connected_gene': 'SFXN2', 'score': 16.36}, {'connected_gene': 'WBP1L', 'score': 12.7}, {'connected_gene': 'ARL3', 'score': 11.78}, {'connected_gene': 'NFKB2', 'score': 11.44}, {'connected_gene': 'CYP17A1', 'score': 11.22}, {'connected_gene': 'PTGES3P4', 'score': 11.21}, {'connected_gene': 'PFN1P11', 'score': 11.21}, {'connected_gene': 'CNNM2', 'score': 10.47}]
chr10 GH10I102830 102830457 102832071 0.73 [{'connected_gene': 'CYP17A1-AS1', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 51.54}, {'connected_gene': 'BORCS7', 'score': 17.49}, {'connected_gene': 'CNNM2', 'score': 10.14}, {'connected_gene': 'WBP1L', 'score': 8.05}, {'connected_gene': 'CYP17A1', 'score': 0.44}, {'connected_gene': 'RNU6-1231P', 'score': 0.31}]
chr10 GH10I103101 103101813 103102944 0.2 [{'connected_gene': 'GC10M103094', 'score': 550.77}, {'connected_gene': 'CNNM2', 'score': 10.46}, {'connected_gene': 'RNU11-3P', 'score': 10.32}, {'connected_gene': 'AS3MT', 'score': 5.88}, {'connected_gene': 'PIR32358', 'score': 0.34}, {'connected_gene': 'NT5C2', 'score': 0.16}]
chr10 GH10I103086 103086484 103086633 0.2 [{'connected_gene': 'PIR52088', 'score': 550.77}, {'connected_gene': 'PIR62550', 'score': 0.44}, {'connected_gene': 'CNNM2', 'score': 0.1}]
chr10 GH10I102945 102945996 102946613 0.2 [{'connected_gene': 'GC10M102937', 'score': 0.44}, {'connected_gene': 'CNNM2', 'score': 0.31}, {'connected_gene': 'GC10P103015', 'score': 0.2}]

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