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
ENST00000493246 [[7680341, 7680452], [7681134, 7681336], [7712939, 7713084], [7778341, 7778453]] None
ENST00000463725 [[7680382, 7680452], [7712939, 7713084], [7715732, 7715839], [7841300, 7841374], [7916911, 7917074]] None
ENST00000469183 [[7680382, 7680452], [7681134, 7681336], [7712939, 7713084], [7841300, 7841374], [8043537, 8043683]] None
ENST00000468567 [[7680393, 7680452], [7712939, 7713084], [7841300, 7841374], [8043537, 8043689]] None
ENST00000482067 [[7680424, 7680452], [7712939, 7713084], [7841300, 7841374], [8007329, 8007651]] None
ENST00000406829 [[7811991, 7812085], [7841300, 7841374], [7916911, 7918854]] [[7841323, 7841374], [7916911, 7917169]]
ENST00000471760 [[7680414, 7680452], [7712939, 7713084], [7728965, 7729091], [7731978, 7732139]] None
NM_001302349 [[7680266, 7680452], [7712946, 7713084], [7841300, 7841374], [7916911, 7918854]] [[7713002, 7713084], [7841300, 7841374], [7916911, 7917169]]
NM_001302348 [[7680266, 7680452], [7712939, 7713084], [7841300, 7841374], [7916911, 7918854]] [[7713002, 7713084], [7841300, 7841374], [7916911, 7917169]]
NM_001302350 [[7680266, 7680452], [7712939, 7713084], [7715732, 7715839], [7841300, 7841374], [7916911, 7918854]] [[7841323, 7841374], [7916911, 7917169]]
Promoter
Chrom Start End Description
chr7 7680327 7680420 CAGE_peak_1_at_LOC729852_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I007639 7639110 7642941 1.8 [{'connected_gene': 'UMAD1', 'score': 550.77}, {'connected_gene': 'ENSG00000283549', 'score': 550.77}, {'connected_gene': 'RPA3', 'score': 25.8}, {'connected_gene': 'ZNF12', 'score': 10.55}, {'connected_gene': 'COL28A1', 'score': 6.51}, {'connected_gene': 'ENSG00000272732', 'score': 5.4}]
chr7 GH07I007718 7718494 7721314 1.58 [{'connected_gene': 'RPA3', 'score': 560.71}, {'connected_gene': 'UMAD1', 'score': 7.55}, {'connected_gene': 'COL28A1', 'score': 5.14}, {'connected_gene': 'ENSG00000272894', 'score': 4.65}, {'connected_gene': 'LOC100533631', 'score': 0.37}, {'connected_gene': 'ENSG00000283549', 'score': 0.18}]
chr7 GH07I007696 7696211 7697905 0.83 [{'connected_gene': 'RPA3', 'score': 0.34}, {'connected_gene': 'UMAD1', 'score': 0.22}, {'connected_gene': 'ENSG00000283549', 'score': 0.22}]
chr7 GH07I007693 7693910 7694179 0.62 [{'connected_gene': 'RPA3', 'score': 0.34}, {'connected_gene': 'UMAD1', 'score': 0.23}, {'connected_gene': 'ENSG00000283549', 'score': 0.23}]
chr7 GH07I007708 7708895 7710039 0.43 [{'connected_gene': 'RPA3', 'score': 0.44}, {'connected_gene': 'UMAD1', 'score': 0.2}, {'connected_gene': 'ENSG00000283549', 'score': 0.2}]
chr7 GH07I007707 7707350 7708201 0.56 [{'connected_gene': 'COL28A1', 'score': 5.34}, {'connected_gene': 'RPA3', 'score': 0.39}, {'connected_gene': 'UMAD1', 'score': 0.2}, {'connected_gene': 'ENSG00000283549', 'score': 0.2}]
chr7 GH07I007867 7867579 7869319 0.79 [{'connected_gene': 'GLCCI1', 'score': 16.59}, {'connected_gene': 'UMAD1', 'score': 10.57}, {'connected_gene': 'LOC100505921', 'score': 10.26}, {'connected_gene': 'RNU6-534P', 'score': 0.28}, {'connected_gene': 'RPL23AP51', 'score': 0.13}, {'connected_gene': 'ENSG00000283549', 'score': 0.07}]
chr7 GH07I007852 7851952 7854154 0.56 [{'connected_gene': 'GLCCI1', 'score': 16.23}, {'connected_gene': 'ENSG00000234141', 'score': 11.43}, {'connected_gene': 'LOC100505921', 'score': 11.05}, {'connected_gene': 'UMAD1', 'score': 5.8}, {'connected_gene': 'RNU6-534P', 'score': 0.23}, {'connected_gene': 'RPL23AP51', 'score': 0.14}, {'connected_gene': 'ENSG00000283549', 'score': 0.08}]
chr7 GH07I007856 7856630 7857716 0.64 [{'connected_gene': 'GLCCI1', 'score': 16.29}, {'connected_gene': 'ENSG00000234141', 'score': 11.44}, {'connected_gene': 'LOC100505921', 'score': 11.06}, {'connected_gene': 'UMAD1', 'score': 5.82}, {'connected_gene': 'RNU6-534P', 'score': 0.25}, {'connected_gene': 'RPL23AP51', 'score': 0.14}, {'connected_gene': 'ENSG00000283549', 'score': 0.08}]
chr7 GH07I007955 7955667 7957234 0.46 [{'connected_gene': 'GLCCI1', 'score': 12.16}, {'connected_gene': 'ENSG00000234141', 'score': 12.1}, {'connected_gene': 'LOC100505921', 'score': 0.39}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007966 7966810 7966959 0.31 [{'connected_gene': 'GLCCI1', 'score': 550.77}, {'connected_gene': 'LOC100505921', 'score': 0.77}, {'connected_gene': 'ENSG00000234141', 'score': 0.37}, {'connected_gene': 'UMAD1', 'score': 0.05}, {'connected_gene': 'ENSG00000283549', 'score': 0.05}]
chr7 GH07I007860 7860929 7862206 0.82 [{'connected_gene': 'GLCCI1', 'score': 16.06}, {'connected_gene': 'LOC100505921', 'score': 10.69}, {'connected_gene': 'RNU6-534P', 'score': 0.26}, {'connected_gene': 'RPL23AP51', 'score': 0.13}, {'connected_gene': 'UMAD1', 'score': 0.07}, {'connected_gene': 'ENSG00000283549', 'score': 0.07}]
chr7 GH07I007789 7789590 7789739 0.59 [{'connected_gene': 'GLCCI1', 'score': 10.36}, {'connected_gene': 'LOC100505921', 'score': 10.36}, {'connected_gene': 'RPL23AP51', 'score': 0.25}, {'connected_gene': 'RNU6-534P', 'score': 0.13}, {'connected_gene': 'UMAD1', 'score': 0.11}, {'connected_gene': 'ENSG00000283549', 'score': 0.11}]
chr7 GH07I007872 7872079 7872181 0.25 [{'connected_gene': 'RNU6-534P', 'score': 0.29}, {'connected_gene': 'RPL23AP51', 'score': 0.13}, {'connected_gene': 'UMAD1', 'score': 0.07}, {'connected_gene': 'ENSG00000283549', 'score': 0.07}]
chr7 GH07I007829 7829063 7830816 0.62 [{'connected_gene': 'RNU6-534P', 'score': 0.18}, {'connected_gene': 'RPL23AP51', 'score': 0.17}, {'connected_gene': 'UMAD1', 'score': 0.09}, {'connected_gene': 'ENSG00000283549', 'score': 0.09}]
chr7 GH07I007653 7653033 7654029 0.74 [{'connected_gene': 'LOC100505921', 'score': 10.84}, {'connected_gene': 'GLCCI1', 'score': 10.84}, {'connected_gene': 'UMAD1', 'score': 0.39}, {'connected_gene': 'ENSG00000283549', 'score': 0.39}, {'connected_gene': 'RPA3', 'score': 0.2}]
chr7 GH07I007650 7650910 7651059 0.57 [{'connected_gene': 'LOC100505921', 'score': 10.84}, {'connected_gene': 'GLCCI1', 'score': 10.84}, {'connected_gene': 'UMAD1', 'score': 0.39}, {'connected_gene': 'ENSG00000283549', 'score': 0.39}, {'connected_gene': 'RPA3', 'score': 0.2}]
chr7 GH07I007962 7962741 7963454 0.38 [{'connected_gene': 'LOC100505921', 'score': 0.44}, {'connected_gene': 'GLCCI1', 'score': 0.44}, {'connected_gene': 'ENSG00000234141', 'score': 0.39}, {'connected_gene': 'UMAD1', 'score': 0.05}, {'connected_gene': 'ENSG00000283549', 'score': 0.05}]
chr7 GH07I007965 7965259 7965815 0.31 [{'connected_gene': 'LOC100505921', 'score': 0.77}, {'connected_gene': 'GLCCI1', 'score': 0.77}, {'connected_gene': 'ENSG00000234141', 'score': 0.39}, {'connected_gene': 'UMAD1', 'score': 0.05}, {'connected_gene': 'ENSG00000283549', 'score': 0.05}]
chr7 GH07I007680 7680911 7683392 0.9 [{'connected_gene': 'LOC100505921', 'score': 10.51}, {'connected_gene': 'GLCCI1', 'score': 10.51}, {'connected_gene': 'RPA3', 'score': 5.1}, {'connected_gene': 'UMAD1', 'score': 4.96}, {'connected_gene': 'ENSG00000283549', 'score': 0.26}]
chr7 GH07I007897 7897670 7897819 0.2 [{'connected_gene': 'LOC100505921', 'score': 10.68}, {'connected_gene': 'GLCCI1', 'score': 10.68}, {'connected_gene': 'RNU6-534P', 'score': 0.44}, {'connected_gene': 'RPL23AP51', 'score': 0.1}, {'connected_gene': 'UMAD1', 'score': 0.07}, {'connected_gene': 'ENSG00000283549', 'score': 0.07}]
chr7 GH07I007894 7894811 7895692 0.2 [{'connected_gene': 'LOC100505921', 'score': 10.68}, {'connected_gene': 'GLCCI1', 'score': 10.68}, {'connected_gene': 'RNU6-534P', 'score': 0.39}, {'connected_gene': 'RPL23AP51', 'score': 0.1}, {'connected_gene': 'UMAD1', 'score': 0.07}, {'connected_gene': 'ENSG00000283549', 'score': 0.07}]
chr7 GH07I007834 7834412 7835154 0.31 [{'connected_gene': 'LOC100505921', 'score': 11.04}, {'connected_gene': 'GLCCI1', 'score': 11.04}, {'connected_gene': 'RNU6-534P', 'score': 0.19}, {'connected_gene': 'RPL23AP51', 'score': 0.16}, {'connected_gene': 'UMAD1', 'score': 0.08}, {'connected_gene': 'ENSG00000283549', 'score': 0.08}]
chr7 GH07I007967 7967339 7972911 2.04 [{'connected_gene': 'LOC100505921', 'score': 550.77}, {'connected_gene': 'GLCCI1', 'score': 550.77}, {'connected_gene': 'LOC100421597', 'score': 4.88}, {'connected_gene': 'UMAD1', 'score': 0.05}, {'connected_gene': 'ENSG00000283549', 'score': 0.05}]
chr7 GH07I007761 7761002 7763249 0.95 [{'connected_gene': 'LOC100505921', 'score': 10.68}, {'connected_gene': 'GLCCI1', 'score': 10.68}, {'connected_gene': 'RPL23AP51', 'score': 0.37}, {'connected_gene': 'UMAD1', 'score': 0.13}, {'connected_gene': 'ENSG00000283549', 'score': 0.13}, {'connected_gene': 'RNU6-534P', 'score': 0.11}]
chr7 GH07I007731 7731158 7733776 1.03 [{'connected_gene': 'LOC100505921', 'score': 10.25}, {'connected_gene': 'GLCCI1', 'score': 10.25}, {'connected_gene': 'RPL23AP51', 'score': 10.23}, {'connected_gene': 'RPA3', 'score': 8.25}, {'connected_gene': 'LOC100533631', 'score': 0.77}, {'connected_gene': 'UMAD1', 'score': 0.16}, {'connected_gene': 'ENSG00000283549', 'score': 0.16}]
chr7 GH07I007794 7794154 7799906 1.08 [{'connected_gene': 'LOC100505921', 'score': 10.42}, {'connected_gene': 'GLCCI1', 'score': 10.42}, {'connected_gene': 'RPL23AP51', 'score': 0.23}, {'connected_gene': 'RNU6-534P', 'score': 0.14}, {'connected_gene': 'UMAD1', 'score': 0.1}, {'connected_gene': 'ENSG00000283549', 'score': 0.1}]
chr7 GH07I007815 7815490 7817379 0.94 [{'connected_gene': 'LOC100505921', 'score': 11.13}, {'connected_gene': 'GLCCI1', 'score': 11.13}, {'connected_gene': 'RPL23AP51', 'score': 0.19}, {'connected_gene': 'RNU6-534P', 'score': 0.16}, {'connected_gene': 'UMAD1', 'score': 0.1}, {'connected_gene': 'ENSG00000283549', 'score': 0.1}]
chr7 GH07I007820 7820470 7821329 0.77 [{'connected_gene': 'LOC100505921', 'score': 11.14}, {'connected_gene': 'GLCCI1', 'score': 11.14}, {'connected_gene': 'RPL23AP51', 'score': 0.18}, {'connected_gene': 'RNU6-534P', 'score': 0.17}, {'connected_gene': 'UMAD1', 'score': 0.09}, {'connected_gene': 'ENSG00000283549', 'score': 0.09}]
chr7 GH07I007792 7792342 7793728 0.43 [{'connected_gene': 'LOC100505921', 'score': 10.42}, {'connected_gene': 'GLCCI1', 'score': 10.42}, {'connected_gene': 'RPL23AP51', 'score': 0.23}, {'connected_gene': 'RNU6-534P', 'score': 0.14}, {'connected_gene': 'UMAD1', 'score': 0.1}, {'connected_gene': 'ENSG00000283549', 'score': 0.1}]
chr7 GH07I007771 7771714 7773214 0.76 [{'connected_gene': 'RPL23AP51', 'score': 0.31}, {'connected_gene': 'UMAD1', 'score': 0.12}, {'connected_gene': 'RNU6-534P', 'score': 0.12}, {'connected_gene': 'ENSG00000283549', 'score': 0.12}]
chr7 GH07I007763 7763896 7766040 1 [{'connected_gene': 'RPL23AP51', 'score': 0.34}, {'connected_gene': 'UMAD1', 'score': 0.13}, {'connected_gene': 'ENSG00000283549', 'score': 0.13}, {'connected_gene': 'RNU6-534P', 'score': 0.11}]
chr7 GH07I007808 7808270 7808419 0.73 [{'connected_gene': 'RPL23AP51', 'score': 0.2}, {'connected_gene': 'RNU6-534P', 'score': 0.15}, {'connected_gene': 'UMAD1', 'score': 0.1}, {'connected_gene': 'ENSG00000283549', 'score': 0.1}]
chr7 GH07I007908 7908592 7910257 0.31 [{'connected_gene': 'CCNB2P1', 'score': 550.77}, {'connected_gene': 'ENSG00000234141', 'score': 6.05}, {'connected_gene': 'ENSG00000272894', 'score': 4.69}, {'connected_gene': 'RNU6-534P', 'score': 0.77}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007947 7947810 7947934 0.31 [{'connected_gene': 'ENSG00000234141', 'score': 0.77}, {'connected_gene': 'PIR33188', 'score': 0.77}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007943 7943667 7946615 1.21 [{'connected_gene': 'PIR33188', 'score': 550.77}, {'connected_gene': 'ENSG00000234141', 'score': 30.85}, {'connected_gene': 'GLCCI1', 'score': 15.6}, {'connected_gene': 'LOC100505921', 'score': 11.63}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007949 7949970 7950119 0.2 [{'connected_gene': 'ENSG00000234141', 'score': 550.77}, {'connected_gene': 'PIR33188', 'score': 0.44}, {'connected_gene': 'LOC100505921', 'score': 0.37}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007851 7851530 7851679 0.31 [{'connected_gene': 'ENSG00000234141', 'score': 11.43}, {'connected_gene': 'LOC100505921', 'score': 11.05}, {'connected_gene': 'GLCCI1', 'score': 11.05}, {'connected_gene': 'RNU6-534P', 'score': 0.23}, {'connected_gene': 'RPL23AP51', 'score': 0.14}, {'connected_gene': 'UMAD1', 'score': 0.08}, {'connected_gene': 'ENSG00000283549', 'score': 0.08}]
chr7 GH07I007785 7785138 7785890 0.2 [{'connected_gene': 'ENSG00000234141', 'score': 11.21}, {'connected_gene': 'LOC100505921', 'score': 10.25}, {'connected_gene': 'GLCCI1', 'score': 10.25}, {'connected_gene': 'RPL23AP51', 'score': 0.26}, {'connected_gene': 'RNU6-534P', 'score': 0.13}, {'connected_gene': 'UMAD1', 'score': 0.11}, {'connected_gene': 'ENSG00000283549', 'score': 0.11}]
chr7 GH07I007918 7918907 7921299 0.75 [{'connected_gene': 'ENSG00000234141', 'score': 20.21}, {'connected_gene': 'LOC100505921', 'score': 11.77}, {'connected_gene': 'GLCCI1', 'score': 11.77}, {'connected_gene': 'CCNB2P1', 'score': 0.44}, {'connected_gene': 'GC07P007941', 'score': 0.34}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007773 7773822 7774289 0.38 [{'connected_gene': 'ENSG00000272894', 'score': 5.08}, {'connected_gene': 'RPL23AP51', 'score': 0.29}, {'connected_gene': 'UMAD1', 'score': 0.12}, {'connected_gene': 'RNU6-534P', 'score': 0.12}, {'connected_gene': 'ENSG00000283549', 'score': 0.12}]
chr7 GH07I007910 7910930 7914241 1.08 [{'connected_gene': 'ENSG00000234141', 'score': 9.94}, {'connected_gene': 'CCNB2P1', 'score': 0.77}, {'connected_gene': 'GC07P007941', 'score': 0.31}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]
chr7 GH07I007922 7922790 7922919 0.63 [{'connected_gene': 'ENSG00000234141', 'score': 12.15}, {'connected_gene': 'CCNB2P1', 'score': 0.39}, {'connected_gene': 'GC07P007941', 'score': 0.37}, {'connected_gene': 'UMAD1', 'score': 0.06}, {'connected_gene': 'ENSG00000283549', 'score': 0.06}]

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