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
ENST00000571133 [[11929055, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945442]] [[11931643, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945369]]
ENST00000396503 [[11931574, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11945264, 11945437]] [[11941648, 11941663], [11945264, 11945369]]
ENST00000542106 [[11931574, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11945264, 11945437]] [[11931643, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935832]]
ENST00000573618 [[11931811, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935786], [11945264, 11945375]] [[11935661, 11935677], [11935763, 11935786], [11945264, 11945369]]
ENST00000355674 [[11931822, 11931970], [11933551, 11933842], [11935551, 11935674], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945401]] [[11931822, 11931970], [11933551, 11933842], [11935551, 11935674], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945369]]
ENST00000573029 [[11931826, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11945264, 11945375]] [[11935821, 11935857], [11945264, 11945369]]
ENST00000573251 [[11933705, 11933842], [11935551, 11935677], [11935763, 11935857], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945373]] [[11933705, 11933842], [11935551, 11935677], [11935763, 11935857], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945369]]
ENST00000574823 [[11935262, 11935677], [11935763, 11935857], [11940357, 11940424]] None
ENST00000570767 [[11935564, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944270], [11945260, 11945399]] [[11944247, 11944270], [11945260, 11945369]]
ENST00000572090 [[11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11943114, 11943242], [11944135, 11944275], [11945264, 11945365]] [[11943202, 11943242], [11944135, 11944275], [11945264, 11945365]]
ENST00000571988 [[11940416, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11944864, 11944902]] [[11940416, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11944864, 11944867]]
ENST00000573791 [[11940590, 11940700], [11941524, 11941663], [11944135, 11944275], [11944958, 11945089]] [[11940590, 11940700], [11941524, 11941663], [11944135, 11944182]]
ENST00000574287 [[11941430, 11941663], [11944135, 11944275], [11945264, 11945376]] None
NM_015659 [[11928052, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945442]] [[11931643, 11931970], [11933551, 11933842], [11935551, 11935677], [11935763, 11935857], [11940357, 11940459], [11940551, 11940700], [11941524, 11941663], [11944135, 11944275], [11945264, 11945369]]
Promoter
Chrom Start End Description
chr16 11945370 11945418 CAGE_peak_1_at_RSL1D1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I011543 11543407 11544685 0.54 [{'connected_gene': 'LITAF', 'score': 29.11}, {'connected_gene': 'ENSG00000261560', 'score': 19.46}, {'connected_gene': 'LOC105371084', 'score': 18.6}, {'connected_gene': 'ZC3H7A', 'score': 15.88}, {'connected_gene': 'COX6CP1', 'score': 14.97}, {'connected_gene': 'HNRNPCP4', 'score': 14.74}, {'connected_gene': 'TXNDC11', 'score': 12.96}, {'connected_gene': 'RSL1D1', 'score': 11.88}, {'connected_gene': 'ENSG00000261216', 'score': 11.58}, {'connected_gene': 'SOCS1', 'score': 10.7}, {'connected_gene': 'TVP23A', 'score': 10.47}, {'connected_gene': 'LOC400499', 'score': 0.34}]
chr16 GH16I011251 11251244 11258013 2.29 [{'connected_gene': 'SOCS1', 'score': 550.77}, {'connected_gene': 'RMI2', 'score': 33.45}, {'connected_gene': 'ENSG00000261560', 'score': 18.21}, {'connected_gene': 'RSL1D1', 'score': 13.77}, {'connected_gene': 'LOC105371084', 'score': 11.67}, {'connected_gene': 'GSPT1', 'score': 11.19}, {'connected_gene': 'HNRNPCP4', 'score': 10.92}, {'connected_gene': 'ZC3H7A', 'score': 10.34}, {'connected_gene': 'LOC105371083', 'score': 7.36}, {'connected_gene': 'LOC105371082', 'score': 0.44}, {'connected_gene': 'GC16P010485', 'score': 0.02}]
chr16 GH16I011667 11667045 11673740 2.44 [{'connected_gene': 'SNN', 'score': 563.55}, {'connected_gene': 'ZC3H7A', 'score': 24.3}, {'connected_gene': 'TXNDC11', 'score': 24.23}, {'connected_gene': 'LITAF', 'score': 23.48}, {'connected_gene': 'LOC105371084', 'score': 17.77}, {'connected_gene': 'ENSG00000261560', 'score': 15.23}, {'connected_gene': 'HNRNPCP4', 'score': 11.21}, {'connected_gene': 'RSL1D1', 'score': 10.94}, {'connected_gene': 'COX6CP1', 'score': 10.33}, {'connected_gene': 'SNX29', 'score': 5.44}, {'connected_gene': 'SOCS1', 'score': 2.25}, {'connected_gene': 'ENSG00000262420', 'score': 0.19}]
chr16 GH16I011867 11867244 11868133 0.83 [{'connected_gene': 'TNFRSF17', 'score': 11.73}, {'connected_gene': 'NPIPB2', 'score': 11.72}, {'connected_gene': 'GSPT1', 'score': 11.34}, {'connected_gene': 'ENSG00000260488', 'score': 5.99}, {'connected_gene': 'ENSG00000261560', 'score': 0.39}, {'connected_gene': 'LOC105371084', 'score': 0.37}, {'connected_gene': 'RSL1D1', 'score': 0.37}]
chr16 GH16I011732 11732865 11733014 0.63 [{'connected_gene': 'TXNDC11', 'score': 12.92}, {'connected_gene': 'RSL1D1', 'score': 10.83}, {'connected_gene': 'ENSG00000262420', 'score': 0.44}, {'connected_gene': 'SNN', 'score': 0.21}]
chr16 GH16I011740 11740299 11745190 2.3 [{'connected_gene': 'TXNDC11', 'score': 563.1}, {'connected_gene': 'ENSG00000262420', 'score': 550.77}, {'connected_gene': 'GC16P011744', 'score': 550.77}, {'connected_gene': 'RSL1D1', 'score': 11.24}, {'connected_gene': 'ENSG00000263013', 'score': 9.79}, {'connected_gene': 'LOC105371083', 'score': 5.59}]
chr16 GH16I011833 11833937 11838101 1.36 [{'connected_gene': 'GSPT1', 'score': 10.89}, {'connected_gene': 'NPIPB2', 'score': 8.07}, {'connected_gene': 'RSL1D1', 'score': 6.46}, {'connected_gene': 'ENSG00000261560', 'score': 5.71}, {'connected_gene': 'BCAR4', 'score': 0.44}, {'connected_gene': 'LOC105371084', 'score': 0.37}]
chr16 GH16I011913 11913139 11917738 2.13 [{'connected_gene': 'GSPT1', 'score': 556.42}, {'connected_gene': 'PIR60564', 'score': 550.77}, {'connected_gene': 'NPIPB2', 'score': 33.66}, {'connected_gene': 'LOC105371084', 'score': 21.06}, {'connected_gene': 'RSL1D1', 'score': 16.77}, {'connected_gene': 'HNRNPCP4', 'score': 12.47}, {'connected_gene': 'ENSG00000261560', 'score': 11.23}, {'connected_gene': 'TNFRSF17', 'score': 11.2}, {'connected_gene': 'SOCS1', 'score': 10.2}, {'connected_gene': 'ENSG00000260488', 'score': 6.48}]
chr16 GH16I011861 11861313 11861592 0.22 [{'connected_gene': 'GSPT1', 'score': 11.31}, {'connected_gene': 'LOC105371084', 'score': 0.44}, {'connected_gene': 'RSL1D1', 'score': 0.44}, {'connected_gene': 'ENSG00000261560', 'score': 0.34}]
chr16 GH16I011857 11857304 11857453 0.75 [{'connected_gene': 'GSPT1', 'score': 11.04}, {'connected_gene': 'LOC105371084', 'score': 0.44}, {'connected_gene': 'RSL1D1', 'score': 0.44}, {'connected_gene': 'ENSG00000261560', 'score': 0.31}]
chr16 GH16I011866 11866701 11866891 0.47 [{'connected_gene': 'GSPT1', 'score': 11.34}, {'connected_gene': 'LOC105371084', 'score': 0.37}, {'connected_gene': 'ENSG00000261560', 'score': 0.37}, {'connected_gene': 'RSL1D1', 'score': 0.37}]
chr16 GH16I011780 11780441 11785599 1.76 [{'connected_gene': 'ZC3H7A', 'score': 555.29}, {'connected_gene': 'RSL1D1', 'score': 10.64}, {'connected_gene': 'LOC105371089', 'score': 4.88}, {'connected_gene': 'TXNDC11', 'score': 4.66}, {'connected_gene': 'ENSG00000274505', 'score': 0.31}]
chr16 GH16I011809 11809419 11811128 1.27 [{'connected_gene': 'ZC3H7A', 'score': 19.92}, {'connected_gene': 'ENSG00000261560', 'score': 19.6}, {'connected_gene': 'LOC105371084', 'score': 18.81}, {'connected_gene': 'COX6CP1', 'score': 15.08}, {'connected_gene': 'HNRNPCP4', 'score': 14.71}, {'connected_gene': 'TXNDC11', 'score': 13.09}, {'connected_gene': 'RSL1D1', 'score': 12.08}, {'connected_gene': 'ENSG00000261216', 'score': 11.68}, {'connected_gene': 'SOCS1', 'score': 10.67}, {'connected_gene': 'LOC105371089', 'score': 4.77}, {'connected_gene': 'PIR45623', 'score': 0.39}, {'connected_gene': 'BCAR4', 'score': 0.37}]
chr16 GH16I011822 11822206 11825342 1.3 [{'connected_gene': 'RSL1D1', 'score': 18.73}, {'connected_gene': 'NPIPB2', 'score': 7.94}, {'connected_gene': 'BCAR4', 'score': 0.44}, {'connected_gene': 'PIR45623', 'score': 0.31}]
chr16 GH16I011896 11896308 11897456 0.31 [{'connected_gene': 'RSL1D1', 'score': 16.98}, {'connected_gene': 'TNFRSF17', 'score': 10.95}, {'connected_gene': 'NPIPB2', 'score': 10.93}, {'connected_gene': 'GC16M011903', 'score': 0.44}, {'connected_gene': 'ENSG00000261560', 'score': 0.39}, {'connected_gene': 'GSPT1', 'score': 0.37}, {'connected_gene': 'LOC105371084', 'score': 0.25}]
chr16 GH16I011739 11739182 11739672 0.49 [{'connected_gene': 'RSL1D1', 'score': 11.23}, {'connected_gene': 'TXNDC11', 'score': 0.77}, {'connected_gene': 'ENSG00000262420', 'score': 0.77}, {'connected_gene': 'SNN', 'score': 0.19}]
chr16 GH16I011734 11734245 11734394 0.99 [{'connected_gene': 'RSL1D1', 'score': 10.83}, {'connected_gene': 'TXNDC11', 'score': 0.44}, {'connected_gene': 'ENSG00000262420', 'score': 0.44}, {'connected_gene': 'SNN', 'score': 0.2}]
chr16 GH16I011738 11738245 11738932 0.46 [{'connected_gene': 'RSL1D1', 'score': 11.23}, {'connected_gene': 'TXNDC11', 'score': 8.72}, {'connected_gene': 'ENSG00000262420', 'score': 0.77}, {'connected_gene': 'SNN', 'score': 0.19}]
chr16 GH16I011735 11735614 11736302 0.2 [{'connected_gene': 'RSL1D1', 'score': 10.83}, {'connected_gene': 'TXNDC11', 'score': 0.44}, {'connected_gene': 'ENSG00000262420', 'score': 0.44}, {'connected_gene': 'SNN', 'score': 0.2}]
chr16 GH16I011758 11758767 11759964 0.79 [{'connected_gene': 'RSL1D1', 'score': 11.78}, {'connected_gene': 'TXNDC11', 'score': 5.01}, {'connected_gene': 'ENSG00000274505', 'score': 0.44}, {'connected_gene': 'ZC3H7A', 'score': 0.28}]
chr16 GH16I011874 11874290 11874487 0.44 [{'connected_gene': 'RSL1D1', 'score': 12.66}, {'connected_gene': 'GSPT1', 'score': 11.59}, {'connected_gene': 'ZC3H7A', 'score': 1.58}, {'connected_gene': 'ENSG00000261560', 'score': 0.44}, {'connected_gene': 'LOC105371084', 'score': 0.34}]
chr16 GH16I011779 11779294 11779746 0.49 [{'connected_gene': 'RSL1D1', 'score': 10.63}, {'connected_gene': 'ZC3H7A', 'score': 4.96}, {'connected_gene': 'ENSG00000274505', 'score': 0.31}]
chr16 GH16I011760 11760419 11760870 0.2 [{'connected_gene': 'RSL1D1', 'score': 11.78}, {'connected_gene': 'ENSG00000274505', 'score': 0.44}, {'connected_gene': 'ZC3H7A', 'score': 0.28}]
chr16 GH16I011848 11848944 11849113 0.67 [{'connected_gene': 'RSL1D1', 'score': 6.6}, {'connected_gene': 'LOC105371084', 'score': 0.77}, {'connected_gene': 'BCAR4', 'score': 0.34}]
chr16 GH16I011344 11344484 11346262 2.23 [{'connected_gene': 'RMI2', 'score': 596.62}, {'connected_gene': 'LOC105371083', 'score': 560.21}, {'connected_gene': 'LOC105371084', 'score': 22.97}, {'connected_gene': 'ENSG00000261560', 'score': 21.41}, {'connected_gene': 'GSPT1', 'score': 19.32}, {'connected_gene': 'ZC3H7A', 'score': 18.53}, {'connected_gene': 'SOCS1', 'score': 15.01}, {'connected_gene': 'HNRNPCP4', 'score': 14.41}, {'connected_gene': 'RSL1D1', 'score': 13.77}, {'connected_gene': 'PRM2', 'score': 12.31}, {'connected_gene': 'TXNDC11', 'score': 12.2}, {'connected_gene': 'COX6CP1', 'score': 11.49}, {'connected_gene': 'NPIPB2', 'score': 11.38}, {'connected_gene': 'NUBP1', 'score': 10.32}, {'connected_gene': 'PRM1', 'score': 10.12}, {'connected_gene': 'ENSG00000261216', 'score': 10.05}, {'connected_gene': 'ENSG00000262703', 'score': 0.77}, {'connected_gene': 'LOC105371082', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.03}]
chr16 GH16I011850 11850228 11852865 2.06 [{'connected_gene': 'LOC105371084', 'score': 550.77}, {'connected_gene': 'RSL1D1', 'score': 550.77}, {'connected_gene': 'NPIPB2', 'score': 17.16}, {'connected_gene': 'PRM2', 'score': 12.13}, {'connected_gene': 'HNRNPCP4', 'score': 10.56}, {'connected_gene': 'ENSG00000261560', 'score': 9.95}, {'connected_gene': 'PRM1', 'score': 9.94}, {'connected_gene': 'BCAR4', 'score': 0.34}]
chr16 GH16I011843 11843855 11845117 0.31 [{'connected_gene': 'LOC105371084', 'score': 0.44}, {'connected_gene': 'RSL1D1', 'score': 0.44}, {'connected_gene': 'BCAR4', 'score': 0.37}]
chr16 GH16I011849 11849204 11849353 0.63 [{'connected_gene': 'LOC105371084', 'score': 0.77}, {'connected_gene': 'RSL1D1', 'score': 0.77}, {'connected_gene': 'BCAR4', 'score': 0.34}]
chr16 GH16I012061 12061524 12064008 1.29 [{'connected_gene': 'LOC105371084', 'score': 109.96}, {'connected_gene': 'ENSG00000261560', 'score': 107.85}, {'connected_gene': 'HNRNPCP4', 'score': 89.67}, {'connected_gene': 'ZC3H7A', 'score': 69.94}, {'connected_gene': 'NPIPB2', 'score': 58.62}, {'connected_gene': 'COX6CP1', 'score': 51.43}, {'connected_gene': 'ENSG00000261216', 'score': 40.53}, {'connected_gene': 'SOCS1', 'score': 22.36}, {'connected_gene': 'TXNDC11', 'score': 20.59}, {'connected_gene': 'RSL1D1', 'score': 10.92}, {'connected_gene': 'RPS23P6', 'score': 0.37}, {'connected_gene': 'ENSG00000260488', 'score': 0.18}, {'connected_gene': 'SNX29', 'score': 0.17}]
chr16 GH16I011736 11736845 11736994 0.8 [{'connected_gene': 'ENSG00000261560', 'score': 11.44}, {'connected_gene': 'RSL1D1', 'score': 11.23}, {'connected_gene': 'HNRNPCP4', 'score': 9.76}, {'connected_gene': 'ENSG00000262420', 'score': 0.77}, {'connected_gene': 'TXNDC11', 'score': 0.44}, {'connected_gene': 'SNN', 'score': 0.2}]

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