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
ENST00000321998 [[19078920, 19079059], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19091417]] [[19078986, 19079059], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089480]]
ENST00000566049 [[19078947, 19079059], [19083249, 19083428], [19087042, 19087182], [19088627, 19088696], [19089402, 19089605]] [[19078986, 19079059], [19083249, 19083428], [19087042, 19087111]]
ENST00000568985 [[19078962, 19079059], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089481], [19090449, 19090484]] [[19078986, 19079059], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696]]
ENST00000566110 [[19078964, 19079059], [19083105, 19083428], [19085242, 19085357], [19087042, 19087099]] [[19083290, 19083428], [19085242, 19085357], [19087042, 19087099]]
ENST00000564746 [[19078967, 19079059], [19083249, 19083723]] None
ENST00000569312 [[19078982, 19079059], [19083249, 19083428], [19085242, 19085419], [19087042, 19087182], [19088627, 19088696], [19089402, 19089600]] [[19078986, 19079059], [19083249, 19083428], [19085242, 19085401]]
ENST00000544894 [[19079238, 19079330], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089626]] [[19083290, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089480]]
ENST00000561858 [[19079245, 19079552], [19083249, 19083428], [19085242, 19085357], [19087042, 19087180]] [[19083290, 19083428], [19085242, 19085357], [19087042, 19087180]]
ENST00000569127 [[19079310, 19080200], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19090584]] [[19080196, 19080200], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089480]]
ENST00000567314 [[19089913, 19090221], [19090308, 19090584]] None
ENST00000569259 [[19090004, 19090221], [19090449, 19090578]] None
NM_016138 [[19078916, 19079059], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19091417]] [[19078986, 19079059], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089480]]
NM_001190983 [[19079238, 19079330], [19083249, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19091417]] [[19083290, 19083428], [19085242, 19085357], [19087042, 19087182], [19088627, 19088696], [19089402, 19089480]]
Promoter
Chrom Start End Description
chr16 19078911 19078925 CAGE_peak_3_at_COQ7_5end
chr16 19078928 19078944 CAGE_peak_1_at_COQ7_5end
chr16 19078960 19078993 CAGE_peak_2_at_COQ7_5end
chr16 19079215 19079244 CAGE_peak_4_at_COQ7_5end
chr16 19079327 19079354 CAGE_peak_6_at_COQ7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I018997 18997031 19000283 1.17 [{'connected_gene': 'TMC7', 'score': 6.69}, {'connected_gene': 'LOC102723385', 'score': 6.34}, {'connected_gene': 'COQ7', 'score': 5.63}, {'connected_gene': 'GC16P019012', 'score': 0.39}]
chr16 GH16I018988 18988503 18989914 1.1 [{'connected_gene': 'TMC7', 'score': 6.0}, {'connected_gene': 'COQ7', 'score': 5.79}, {'connected_gene': 'GC16P019012', 'score': 0.34}]
chr16 GH16I018983 18983319 18984995 2.02 [{'connected_gene': 'TMC7', 'score': 556.73}, {'connected_gene': 'ENSG00000205746', 'score': 12.81}, {'connected_gene': 'NPIPA8', 'score': 12.39}, {'connected_gene': 'PKD1P5', 'score': 11.42}, {'connected_gene': 'COQ7', 'score': 6.23}, {'connected_gene': 'LOC102723385', 'score': 5.28}, {'connected_gene': 'GC16P019012', 'score': 0.31}]
chr16 GH16I019428 19428786 19433965 1.22 [{'connected_gene': 'TMC5', 'score': 12.54}, {'connected_gene': 'RNU4-46P', 'score': 11.47}, {'connected_gene': 'COQ7', 'score': 10.25}, {'connected_gene': 'CCP110', 'score': 7.01}, {'connected_gene': 'ENSG00000259925', 'score': 6.75}, {'connected_gene': 'GC16P019423', 'score': 0.44}, {'connected_gene': 'GC16P019447', 'score': 0.37}]
chr16 GH16I018786 18786475 18791478 2.51 [{'connected_gene': 'RPS15A', 'score': 563.31}, {'connected_gene': 'ARL6IP1', 'score': 13.67}, {'connected_gene': 'CCP110', 'score': 12.66}, {'connected_gene': 'COQ7', 'score': 9.72}, {'connected_gene': 'ENSG00000205746', 'score': 4.97}, {'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.39}]
chr16 GH16I019091 19091587 19093326 1.19 [{'connected_gene': 'RPS15A', 'score': 13.61}, {'connected_gene': 'COQ7', 'score': 6.92}, {'connected_gene': 'ENSG00000260430', 'score': 0.44}, {'connected_gene': 'GC16P019109', 'score': 0.37}]
chr16 GH16I019554 19554337 19556914 2.09 [{'connected_gene': 'C16orf62', 'score': 560.92}, {'connected_gene': 'RPS15A', 'score': 22.6}, {'connected_gene': 'CCP110', 'score': 19.09}, {'connected_gene': 'COQ7', 'score': 10.09}, {'connected_gene': 'TMC5', 'score': 7.67}, {'connected_gene': 'KNOP1', 'score': 6.91}, {'connected_gene': 'GDE1', 'score': 5.0}, {'connected_gene': 'GC16M019688', 'score': 0.12}, {'connected_gene': 'GC16M019687', 'score': 0.12}]
chr16 GH16I019515 19515093 19518086 0.78 [{'connected_gene': 'C16orf62', 'score': 11.48}, {'connected_gene': 'COQ7', 'score': 10.18}, {'connected_gene': 'CCP110', 'score': 9.79}, {'connected_gene': 'KNOP1', 'score': 6.9}, {'connected_gene': 'GDE1', 'score': 4.75}, {'connected_gene': 'GC16P019512', 'score': 0.77}]
chr16 GH16I019203 19203547 19204248 0.57 [{'connected_gene': 'SYT17', 'score': 11.78}, {'connected_gene': 'COQ7', 'score': 10.93}, {'connected_gene': 'CLEC19A', 'score': 0.18}]
chr16 GH16I019116 19116768 19120559 1.66 [{'connected_gene': 'SYT17', 'score': 11.61}, {'connected_gene': 'COQ7', 'score': 11.19}, {'connected_gene': 'ENSG00000261427', 'score': 0.77}, {'connected_gene': 'ITPRIPL2', 'score': 0.77}, {'connected_gene': 'ENSG00000261759', 'score': 0.77}, {'connected_gene': 'GC16P019121', 'score': 0.77}, {'connected_gene': 'GC16P019109', 'score': 0.44}]
chr16 GH16I019123 19123659 19123828 1.05 [{'connected_gene': 'SYT17', 'score': 11.63}, {'connected_gene': 'COQ7', 'score': 11.06}, {'connected_gene': 'ITPRIPL2', 'score': 4.94}, {'connected_gene': 'ENSG00000261759', 'score': 0.77}, {'connected_gene': 'ENSG00000261427', 'score': 0.44}, {'connected_gene': 'GC16P019109', 'score': 0.39}]
chr16 GH16I019139 19139259 19139936 0.56 [{'connected_gene': 'SYT17', 'score': 12.22}, {'connected_gene': 'COQ7', 'score': 11.24}, {'connected_gene': 'IQCK', 'score': 4.31}, {'connected_gene': 'ENSG00000261759', 'score': 0.37}, {'connected_gene': 'GC16P019109', 'score': 0.31}, {'connected_gene': 'ENSG00000261427', 'score': 0.31}]
chr16 GH16I019138 19138037 19139208 1.16 [{'connected_gene': 'SYT17', 'score': 12.22}, {'connected_gene': 'COQ7', 'score': 11.24}, {'connected_gene': 'IQCK', 'score': 4.47}, {'connected_gene': 'ENSG00000261759', 'score': 0.37}, {'connected_gene': 'ENSG00000261427', 'score': 0.34}, {'connected_gene': 'GC16P019109', 'score': 0.31}]
chr16 GH16I019209 19209912 19213072 1.28 [{'connected_gene': 'SYT17', 'score': 17.26}, {'connected_gene': 'COQ7', 'score': 12.03}, {'connected_gene': 'RNU4-46P', 'score': 10.59}, {'connected_gene': 'SMG1', 'score': 1.53}, {'connected_gene': 'CLEC19A', 'score': 0.19}]
chr16 GH16I019106 19106001 19106400 0.63 [{'connected_gene': 'SYT17', 'score': 11.69}, {'connected_gene': 'COQ7', 'score': 11.33}, {'connected_gene': 'RNU4-46P', 'score': 9.76}, {'connected_gene': 'GC16P019109', 'score': 0.77}, {'connected_gene': 'ENSG00000260430', 'score': 0.37}]
chr16 GH16I019124 19123839 19123988 1.04 [{'connected_gene': 'SYT17', 'score': 11.63}, {'connected_gene': 'COQ7', 'score': 11.06}, {'connected_gene': 'ENSG00000261759', 'score': 0.77}, {'connected_gene': 'ENSG00000261427', 'score': 0.44}, {'connected_gene': 'GC16P019109', 'score': 0.39}]
chr16 GH16I019127 19127194 19128149 0.72 [{'connected_gene': 'SYT17', 'score': 11.63}, {'connected_gene': 'COQ7', 'score': 11.35}, {'connected_gene': 'ENSG00000261759', 'score': 0.44}, {'connected_gene': 'ENSG00000261427', 'score': 0.39}, {'connected_gene': 'GC16P019109', 'score': 0.37}]
chr16 GH16I019134 19134482 19135104 0.2 [{'connected_gene': 'SYT17', 'score': 12.21}, {'connected_gene': 'COQ7', 'score': 11.25}, {'connected_gene': 'ENSG00000261759', 'score': 0.39}, {'connected_gene': 'ENSG00000261427', 'score': 0.34}, {'connected_gene': 'GC16P019109', 'score': 0.31}]
chr16 GH16I019128 19128732 19128924 0.31 [{'connected_gene': 'SYT17', 'score': 11.38}, {'connected_gene': 'COQ7', 'score': 11.35}, {'connected_gene': 'ENSG00000261759', 'score': 0.44}, {'connected_gene': 'ENSG00000261427', 'score': 0.39}, {'connected_gene': 'GC16P019109', 'score': 0.37}]
chr16 GH16I019135 19135343 19138000 1.35 [{'connected_gene': 'SYT17', 'score': 12.21}, {'connected_gene': 'COQ7', 'score': 11.25}, {'connected_gene': 'ENSG00000261759', 'score': 0.37}, {'connected_gene': 'ENSG00000261427', 'score': 0.34}, {'connected_gene': 'GC16P019109', 'score': 0.31}]
chr16 GH16I019142 19142717 19144121 0.6 [{'connected_gene': 'SYT17', 'score': 12.31}, {'connected_gene': 'COQ7', 'score': 11.12}, {'connected_gene': 'ENSG00000261759', 'score': 0.34}, {'connected_gene': 'ENSG00000261427', 'score': 0.31}, {'connected_gene': 'GC16P019109', 'score': 0.29}]
chr16 GH16I018945 18945682 18946997 1.15 [{'connected_gene': 'PKD1P5', 'score': 13.73}, {'connected_gene': 'NPIPA8', 'score': 13.04}, {'connected_gene': 'ENSG00000205746', 'score': 12.07}, {'connected_gene': 'TMC7', 'score': 11.76}, {'connected_gene': 'ARL6IP1', 'score': 11.34}, {'connected_gene': 'COQ7', 'score': 10.54}, {'connected_gene': 'ENSG00000260352', 'score': 0.37}]
chr16 GH16I019129 19129651 19133447 1.34 [{'connected_gene': 'PKD1P5', 'score': 13.73}, {'connected_gene': 'NPIPA8', 'score': 13.03}, {'connected_gene': 'SYT17', 'score': 12.19}, {'connected_gene': 'ENSG00000205746', 'score': 12.07}, {'connected_gene': 'COQ7', 'score': 11.54}, {'connected_gene': 'ENSG00000261759', 'score': 0.44}, {'connected_gene': 'ENSG00000261427', 'score': 0.37}, {'connected_gene': 'GC16P019109', 'score': 0.34}]
chr16 GH16I018818 18818940 18820280 0.2 [{'connected_gene': 'ARL6IP1', 'score': 14.38}, {'connected_gene': 'RPS15A', 'score': 12.05}, {'connected_gene': 'COQ7', 'score': 10.03}, {'connected_gene': 'GC16M018804', 'score': 0.39}, {'connected_gene': 'LOC100996247', 'score': 0.22}, {'connected_gene': 'SMG1', 'score': 0.14}]
chr16 GH16I018797 18797463 18807179 2.08 [{'connected_gene': 'ARL6IP1', 'score': 564.77}, {'connected_gene': 'ENSG00000260342', 'score': 550.77}, {'connected_gene': 'ENSG00000260017', 'score': 550.77}, {'connected_gene': 'ENSG00000205746', 'score': 16.13}, {'connected_gene': 'SMG1', 'score': 14.47}, {'connected_gene': 'NPIPA8', 'score': 12.4}, {'connected_gene': 'PKD1P5', 'score': 11.44}, {'connected_gene': 'COQ7', 'score': 2.61}, {'connected_gene': 'GC16M018804', 'score': 0.44}]
chr16 GH16I018969 18969001 18969665 1.13 [{'connected_gene': 'SMG1', 'score': 12.62}, {'connected_gene': 'RNU6-1340P', 'score': 11.5}, {'connected_gene': 'COQ7', 'score': 11.3}, {'connected_gene': 'TMC7', 'score': 6.25}, {'connected_gene': 'ENSG00000260352', 'score': 0.26}]
chr16 GH16I019436 19436380 19438400 0.77 [{'connected_gene': 'RNU4-46P', 'score': 11.47}, {'connected_gene': 'COQ7', 'score': 10.05}, {'connected_gene': 'CCP110', 'score': 5.35}, {'connected_gene': 'TMC5', 'score': 4.66}, {'connected_gene': 'GC16P019447', 'score': 0.39}, {'connected_gene': 'GC16P019423', 'score': 0.39}]
chr16 GH16I019072 19072359 19072508 0.83 [{'connected_gene': 'LOC102723385', 'score': 0.77}, {'connected_gene': 'COQ7', 'score': 0.77}, {'connected_gene': 'GC16M019068', 'score': 0.44}]
chr16 GH16I019001 19001114 19002913 0.58 [{'connected_gene': 'COQ7', 'score': 5.94}, {'connected_gene': 'GC16P019012', 'score': 0.39}, {'connected_gene': 'TMC7', 'score': 0.37}]
chr16 GH16I019005 19005202 19006873 1.16 [{'connected_gene': 'COQ7', 'score': 14.43}, {'connected_gene': 'RPS15A', 'score': 10.65}, {'connected_gene': 'TMC7', 'score': 8.1}, {'connected_gene': 'GC16P019012', 'score': 0.44}]
chr16 GH16I018793 18793179 18793328 0.46 [{'connected_gene': 'COQ7', 'score': 9.34}, {'connected_gene': 'RPS15A', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.44}, {'connected_gene': 'ARL6IP1', 'score': 0.44}]
chr16 GH16I019094 19094719 19096699 1.07 [{'connected_gene': 'COQ7', 'score': 11.82}, {'connected_gene': 'SYT17', 'score': 11.61}, {'connected_gene': 'RNU4-46P', 'score': 10.92}, {'connected_gene': 'ENSG00000260430', 'score': 0.44}, {'connected_gene': 'GC16P019109', 'score': 0.39}]
chr16 GH16I019066 19066548 19069103 2.09 [{'connected_gene': 'COQ7', 'score': 561.58}, {'connected_gene': 'LOC102723385', 'score': 560.96}, {'connected_gene': 'ENSG00000261357', 'score': 550.77}, {'connected_gene': 'TMC7', 'score': 5.55}, {'connected_gene': 'GC16M019068', 'score': 0.39}]
chr16 GH16I019512 19512991 19514573 0.88 [{'connected_gene': 'GC16P019512', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 11.16}, {'connected_gene': 'COQ7', 'score': 9.68}, {'connected_gene': 'GDE1', 'score': 0.44}]
chr16 GH16I019121 19121606 19122667 0.86 [{'connected_gene': 'ENSG00000261759', 'score': 550.77}, {'connected_gene': 'GC16P019121', 'score': 550.77}, {'connected_gene': 'SYT17', 'score': 11.61}, {'connected_gene': 'COQ7', 'score': 11.07}, {'connected_gene': 'ENSG00000261427', 'score': 0.44}, {'connected_gene': 'ITPRIPL2', 'score': 0.44}, {'connected_gene': 'GC16P019109', 'score': 0.39}]
chr16 GH16I019107 19107309 19109112 1.39 [{'connected_gene': 'GC16P019109', 'score': 550.77}, {'connected_gene': 'SYT17', 'score': 11.7}, {'connected_gene': 'COQ7', 'score': 11.31}, {'connected_gene': 'RNU4-46P', 'score': 9.76}, {'connected_gene': 'ENSG00000260430', 'score': 0.34}]
chr16 GH16I019110 19110459 19116469 2.21 [{'connected_gene': 'ENSG00000261427', 'score': 550.77}, {'connected_gene': 'ITPRIPL2', 'score': 550.77}, {'connected_gene': 'ENSG00000278389', 'score': 550.77}, {'connected_gene': 'SYT17', 'score': 11.71}, {'connected_gene': 'COQ7', 'score': 11.61}, {'connected_gene': 'RNU4-46P', 'score': 9.86}, {'connected_gene': 'GC16P019109', 'score': 0.77}]
chr16 GH16I019392 19392340 19397836 1.12 [{'connected_gene': 'ENSG00000280265', 'score': 550.77}, {'connected_gene': 'LOC105371114', 'score': 550.77}, {'connected_gene': 'TMC5', 'score': 15.25}, {'connected_gene': 'SYT17', 'score': 14.36}, {'connected_gene': 'RNU4-46P', 'score': 11.25}, {'connected_gene': 'COQ7', 'score': 10.72}, {'connected_gene': 'ENSG00000259925', 'score': 0.44}]
chr16 GH16I019487 19487201 19489422 1.15 [{'connected_gene': 'ENSG00000260592', 'score': 550.77}, {'connected_gene': 'COQ7', 'score': 20.4}, {'connected_gene': 'SMG1', 'score': 13.02}, {'connected_gene': 'RPS15A', 'score': 10.59}, {'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'KNOP1', 'score': 7.69}, {'connected_gene': 'CCP110', 'score': 6.76}, {'connected_gene': 'TMC5', 'score': 5.64}, {'connected_gene': 'GDE1', 'score': 4.61}, {'connected_gene': 'GC16P019498', 'score': 0.39}]
chr16 GH16I019086 19086179 19087268 1.74 [{'connected_gene': 'ENSG00000260430', 'score': 550.77}, {'connected_gene': 'COQ7', 'score': 6.58}, {'connected_gene': 'GC16M019068', 'score': 0.44}]

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