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
ENST00000578921 [[9708161, 9708441], [9775274, 9775354], [9792150, 9792232], [9814016, 9814088], [9815112, 9815219], [9845578, 9845688], [9859224, 9862548]] [[9708402, 9708441], [9775274, 9775354], [9792150, 9792232], [9814016, 9814088], [9815112, 9815219], [9845578, 9845688], [9859224, 9859322]]
ENST00000578734 [[9708271, 9708441], [9792150, 9792232], [9814016, 9814088], [9815112, 9815219], [9845578, 9845688], [9859224, 9859466]] [[9708402, 9708441], [9792150, 9792189]]
ENST00000581109 [[9708303, 9708441], [9775274, 9775354], [9792150, 9792232], [9845578, 9845688], [9859224, 9859283]] [[9708402, 9708441], [9775274, 9775354], [9792150, 9792232], [9845578, 9845602]]
ENST00000435762 [[9775283, 9775354], [9792150, 9792232], [9859224, 9859589]] None
ENST00000583921 [[9797355, 9797504], [9814016, 9814088], [9815112, 9815219], [9845578, 9845688], [9859224, 9859369]] None
ENST00000577796 [[9814650, 9814727], [9815112, 9815219], [9845578, 9845689]] None
ENST00000577371 [[9814717, 9814784], [9815112, 9815219], [9845578, 9845676]] None
ENST00000583137 [[9708319, 9708441], [9722738, 9722860], [9723554, 9723710], [9726023, 9726148], [9757959, 9758148]] [[9708402, 9708441], [9722738, 9722860], [9723554, 9723573]]
ENST00000578737 [[9792149, 9792232], [9814016, 9814088], [9815112, 9815219], [9816089, 9816155]] None
ENST00000580361 [[9814044, 9814088], [9815112, 9815435]] None
ENST00000580795 [[9849592, 9849653], [9859224, 9859505]] None
ENST00000577284 [[9856040, 9856351], [9859224, 9859517]] None
NM_006868 [[9708227, 9708441], [9775274, 9775354], [9792150, 9792232], [9814016, 9814088], [9815112, 9815219], [9845578, 9845688], [9859224, 9862553]] [[9708402, 9708441], [9775274, 9775354], [9792150, 9792232], [9814016, 9814088], [9815112, 9815219], [9845578, 9845688], [9859224, 9859322]]
Promoter
Chrom Start End Description
chr18 9708214 9708222 CAGE_peak_2_at_RAB31_5end
chr18 9708229 9708326 CAGE_peak_1_at_RAB31_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I009811 9811885 9812329 1.08 [{'connected_gene': 'PPP4R1', 'score': 4.39}, {'connected_gene': 'VAPA', 'score': 3.59}, {'connected_gene': 'RAB31', 'score': 2.6}, {'connected_gene': 'RN7SL862P', 'score': 0.37}, {'connected_gene': 'ZNF415P1', 'score': 0.31}]
chr18 GH18I009687 9687995 9688847 0.91 [{'connected_gene': 'PPP4R1', 'score': 5.85}, {'connected_gene': 'KRT18P8', 'score': 0.44}, {'connected_gene': 'RAB31', 'score': 0.37}, {'connected_gene': 'GC18M009550', 'score': 0.16}]
chr18 GH18I009735 9735978 9744934 1.72 [{'connected_gene': 'PPP4R1', 'score': 27.36}, {'connected_gene': 'RAB31', 'score': 23.38}, {'connected_gene': 'ENSG00000263847', 'score': 11.81}, {'connected_gene': 'TXNDC2', 'score': 11.25}, {'connected_gene': 'RNU6-903P', 'score': 11.11}, {'connected_gene': 'VAPA', 'score': 2.52}, {'connected_gene': 'ENSG00000266891', 'score': 0.77}, {'connected_gene': 'GC18M009550', 'score': 0.28}]
chr18 GH18I009548 9548279 9548392 0.27 [{'connected_gene': 'PPP4R1', 'score': 3.7}, {'connected_gene': 'RAB31', 'score': 1.61}, {'connected_gene': 'ANKRD12', 'score': 1.59}, {'connected_gene': 'VAPA', 'score': 1.4}, {'connected_gene': 'RNU2-27P', 'score': 0.29}, {'connected_gene': 'ENSG00000266541', 'score': 0.28}]
chr18 GH18I009718 9718619 9720644 1.24 [{'connected_gene': 'PPP4R1', 'score': 11.37}, {'connected_gene': 'ENSG00000263847', 'score': 10.09}, {'connected_gene': 'RAB31', 'score': 9.85}, {'connected_gene': 'LOC105371981', 'score': 0.39}, {'connected_gene': 'ENSG00000266891', 'score': 0.37}, {'connected_gene': 'GC18M009550', 'score': 0.22}]
chr18 GH18I009912 9912832 9919124 2.61 [{'connected_gene': 'VAPA', 'score': 556.23}, {'connected_gene': 'ENSG00000272799', 'score': 23.25}, {'connected_gene': 'NAPG', 'score': 12.31}, {'connected_gene': 'TXNDC2', 'score': 11.7}, {'connected_gene': 'ANKRD12', 'score': 11.46}, {'connected_gene': 'PPP4R1', 'score': 11.25}, {'connected_gene': 'RAB31', 'score': 4.72}, {'connected_gene': 'RNA5SP450', 'score': 0.44}]
chr18 GH18I009854 9854257 9856417 1.44 [{'connected_gene': 'VAPA', 'score': 15.64}, {'connected_gene': 'TXNDC2', 'score': 13.01}, {'connected_gene': 'RAB31', 'score': 9.27}, {'connected_gene': 'PPP4R1', 'score': 8.2}, {'connected_gene': 'RALBP1', 'score': 2.32}, {'connected_gene': 'RNA5SP449', 'score': 0.39}, {'connected_gene': 'PIGPP4', 'score': 0.31}]
chr18 GH18I009834 9834640 9837304 0.89 [{'connected_gene': 'VAPA', 'score': 11.82}, {'connected_gene': 'TXNDC2', 'score': 11.7}, {'connected_gene': 'RN7SL862P', 'score': 0.44}, {'connected_gene': 'RNA5SP449', 'score': 0.44}, {'connected_gene': 'RAB31', 'score': 0.13}]
chr18 GH18I009841 9841018 9843300 0.54 [{'connected_gene': 'VAPA', 'score': 6.04}, {'connected_gene': 'RAB31', 'score': 5.74}, {'connected_gene': 'RNA5SP449', 'score': 0.77}, {'connected_gene': 'RN7SL862P', 'score': 0.39}]
chr18 GH18I010056 10056424 10061192 1 [{'connected_gene': 'NAPG', 'score': 10.9}, {'connected_gene': 'RAB31', 'score': 4.58}, {'connected_gene': 'VAPA', 'score': 1.76}, {'connected_gene': 'LOC105371983', 'score': 0.31}, {'connected_gene': 'LOC105371984', 'score': 0.31}]
chr18 GH18I009493 9493901 9497662 1.2 [{'connected_gene': 'RALBP1', 'score': 14.7}, {'connected_gene': 'RAB31', 'score': 6.3}, {'connected_gene': 'ANKRD12', 'score': 5.69}, {'connected_gene': 'VAPA', 'score': 1.76}, {'connected_gene': 'GC18P009504', 'score': 0.44}]
chr18 GH18I009802 9802551 9805123 1.44 [{'connected_gene': 'TXNDC2', 'score': 11.74}, {'connected_gene': 'PPP4R1', 'score': 10.88}, {'connected_gene': 'RNU6-903P', 'score': 10.88}, {'connected_gene': 'NAPG', 'score': 4.55}, {'connected_gene': 'ZNF415P1', 'score': 0.37}, {'connected_gene': 'RN7SL862P', 'score': 0.31}, {'connected_gene': 'RAB31', 'score': 0.15}]
chr18 GH18I009806 9806411 9811479 1.33 [{'connected_gene': 'TXNDC2', 'score': 12.1}, {'connected_gene': 'PPP4R1', 'score': 10.88}, {'connected_gene': 'RNU6-903P', 'score': 10.88}, {'connected_gene': 'RN7SL862P', 'score': 0.34}, {'connected_gene': 'ZNF415P1', 'score': 0.34}, {'connected_gene': 'RAB31', 'score': 0.15}]
chr18 GH18I009850 9850959 9851936 0.97 [{'connected_gene': 'TXNDC2', 'score': 11.99}, {'connected_gene': 'VAPA', 'score': 9.02}, {'connected_gene': 'RNA5SP449', 'score': 0.44}, {'connected_gene': 'PIGPP4', 'score': 0.31}, {'connected_gene': 'RAB31', 'score': 0.11}]
chr18 GH18I009849 9848284 9848433 1.08 [{'connected_gene': 'TXNDC2', 'score': 11.67}, {'connected_gene': 'VAPA', 'score': 6.97}, {'connected_gene': 'RNA5SP449', 'score': 0.77}, {'connected_gene': 'PIGPP4', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.11}]
chr18 GH18I009781 9781366 9783874 1.34 [{'connected_gene': 'TXNDC2', 'score': 11.73}, {'connected_gene': 'RAB31', 'score': 4.5}, {'connected_gene': 'GC18M009550', 'score': 0.77}, {'connected_gene': 'ZNF415P1', 'score': 0.77}]
chr18 GH18I009765 9765199 9766426 1 [{'connected_gene': 'TXNDC2', 'score': 11.16}, {'connected_gene': 'GC18M009550', 'score': 0.39}, {'connected_gene': 'ENSG00000266891', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.22}]
chr18 GH18I009805 9805302 9805930 0.43 [{'connected_gene': 'TXNDC2', 'score': 11.74}, {'connected_gene': 'RNU6-903P', 'score': 10.88}, {'connected_gene': 'PPP4R1', 'score': 10.88}, {'connected_gene': 'ZNF415P1', 'score': 0.34}, {'connected_gene': 'RN7SL862P', 'score': 0.31}, {'connected_gene': 'RAB31', 'score': 0.15}]
chr18 GH18I009852 9852204 9852273 0.58 [{'connected_gene': 'TXNDC2', 'score': 11.77}, {'connected_gene': 'RNA5SP449', 'score': 0.44}, {'connected_gene': 'PIGPP4', 'score': 0.31}, {'connected_gene': 'RAB31', 'score': 0.11}]
chr18 GH18I009792 9792600 9792813 1.04 [{'connected_gene': 'TXNDC2', 'score': 11.93}, {'connected_gene': 'ZNF415P1', 'score': 0.44}, {'connected_gene': 'RN7SL862P', 'score': 0.28}, {'connected_gene': 'RAB31', 'score': 0.18}]
chr18 GH18I009790 9790142 9791352 0.2 [{'connected_gene': 'TXNDC2', 'score': 11.93}, {'connected_gene': 'ZNF415P1', 'score': 0.44}, {'connected_gene': 'RN7SL862P', 'score': 0.28}, {'connected_gene': 'RAB31', 'score': 0.18}]
chr18 GH18I009868 9868044 9871895 1.69 [{'connected_gene': 'ANKRD12', 'score': 11.46}, {'connected_gene': 'PPP4R1', 'score': 11.18}, {'connected_gene': 'VAPA', 'score': 9.17}, {'connected_gene': 'ENSG00000272799', 'score': 8.29}, {'connected_gene': 'RAB31', 'score': 6.26}, {'connected_gene': 'PIGPP4', 'score': 0.39}, {'connected_gene': 'RNA5SP449', 'score': 0.31}]
chr18 GH18I009823 9823068 9829799 1.74 [{'connected_gene': 'ANKRD12', 'score': 23.19}, {'connected_gene': 'VAPA', 'score': 20.62}, {'connected_gene': 'PPP4R1', 'score': 18.53}, {'connected_gene': 'RAB31', 'score': 18.45}, {'connected_gene': 'TXNDC2', 'score': 12.2}, {'connected_gene': 'RALBP1', 'score': 1.14}, {'connected_gene': 'RN7SL862P', 'score': 0.77}, {'connected_gene': 'ZNF415P1', 'score': 0.26}]
chr18 GH18I009797 9797023 9799282 1.2 [{'connected_gene': 'ANKRD12', 'score': 13.52}, {'connected_gene': 'TXNDC2', 'score': 11.45}, {'connected_gene': 'ZNF415P1', 'score': 0.39}, {'connected_gene': 'RN7SL862P', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.17}]
chr18 GH18I009683 9683327 9685864 1.3 [{'connected_gene': 'KRT18P8', 'score': 0.44}, {'connected_gene': 'RAB31', 'score': 0.34}, {'connected_gene': 'GC18M009550', 'score': 0.16}]
chr18 GH18I009749 9749502 9754488 1.46 [{'connected_gene': 'RAB31', 'score': 15.65}, {'connected_gene': 'VAPA', 'score': 12.86}, {'connected_gene': 'PPP4R1', 'score': 10.65}, {'connected_gene': 'RNU6-903P', 'score': 10.65}, {'connected_gene': 'ENSG00000266891', 'score': 0.37}, {'connected_gene': 'GC18M009550', 'score': 0.31}]
chr18 GH18I010072 10072770 10073152 0.55 [{'connected_gene': 'RAB31', 'score': 4.74}, {'connected_gene': 'VAPA', 'score': 1.92}, {'connected_gene': 'NAPG', 'score': 1.2}, {'connected_gene': 'LOC105371984', 'score': 0.39}, {'connected_gene': 'LOC105371983', 'score': 0.26}]
chr18 GH18I009848 9848739 9850899 1.61 [{'connected_gene': 'RAB31', 'score': 15.6}, {'connected_gene': 'VAPA', 'score': 12.6}, {'connected_gene': 'TXNDC2', 'score': 11.97}, {'connected_gene': 'PPP4R1', 'score': 4.85}, {'connected_gene': 'RNA5SP449', 'score': 0.77}, {'connected_gene': 'PIGPP4', 'score': 0.29}]
chr18 GH18I009755 9755292 9759619 1.55 [{'connected_gene': 'RAB31', 'score': 19.18}, {'connected_gene': 'TXNDC2', 'score': 11.88}, {'connected_gene': 'VAPA', 'score': 3.43}, {'connected_gene': 'PPP4R1', 'score': 2.03}, {'connected_gene': 'GC18M009550', 'score': 0.34}, {'connected_gene': 'ENSG00000266891', 'score': 0.34}]
chr18 GH18I009760 9760475 9761373 0.66 [{'connected_gene': 'RAB31', 'score': 12.71}, {'connected_gene': 'TXNDC2', 'score': 11.88}, {'connected_gene': 'GC18M009550', 'score': 0.37}, {'connected_gene': 'ENSG00000266891', 'score': 0.31}]
chr18 GH18I009761 9761401 9761800 0.6 [{'connected_gene': 'RAB31', 'score': 12.71}, {'connected_gene': 'TXNDC2', 'score': 11.88}, {'connected_gene': 'GC18M009550', 'score': 0.37}, {'connected_gene': 'ENSG00000266891', 'score': 0.31}]
chr18 GH18I009762 9762201 9763235 1.24 [{'connected_gene': 'RAB31', 'score': 14.84}, {'connected_gene': 'TXNDC2', 'score': 11.88}, {'connected_gene': 'GC18M009550', 'score': 0.37}, {'connected_gene': 'ENSG00000266891', 'score': 0.31}]
chr18 GH18I009701 9701602 9702400 0.9 [{'connected_gene': 'RAB31', 'score': 0.44}, {'connected_gene': 'KRT18P8', 'score': 0.34}, {'connected_gene': 'GC18M009550', 'score': 0.18}]
chr18 GH18I009700 9700504 9700653 0.78 [{'connected_gene': 'RAB31', 'score': 0.44}, {'connected_gene': 'KRT18P8', 'score': 0.34}, {'connected_gene': 'GC18M009550', 'score': 0.18}]
chr18 GH18I009670 9670715 9674759 1.3 [{'connected_gene': 'RAB31', 'score': 16.99}, {'connected_gene': 'RNU6-903P', 'score': 12.96}, {'connected_gene': 'PPP4R1', 'score': 12.95}, {'connected_gene': 'TXNDC2', 'score': 11.27}, {'connected_gene': 'KRT18P8', 'score': 0.44}, {'connected_gene': 'GC18M009617', 'score': 0.23}, {'connected_gene': 'GC18M009550', 'score': 0.14}]
chr18 GH18I009866 9866168 9866389 0.56 [{'connected_gene': 'RAB31', 'score': 1.6}, {'connected_gene': 'PIGPP4', 'score': 0.39}, {'connected_gene': 'RNA5SP449', 'score': 0.34}]
chr18 GH18I009837 9837714 9840312 0.86 [{'connected_gene': 'RAB31', 'score': 5.4}, {'connected_gene': 'ENSG00000272799', 'score': 4.86}, {'connected_gene': 'RN7SL862P', 'score': 0.44}, {'connected_gene': 'RNA5SP449', 'score': 0.44}]
chr18 GH18I009704 9704589 9712619 2.51 [{'connected_gene': 'RAB31', 'score': 578.45}, {'connected_gene': 'LOC105371981', 'score': 550.77}, {'connected_gene': 'ANKRD12', 'score': 13.53}, {'connected_gene': 'VAPA', 'score': 3.91}, {'connected_gene': 'PPP4R1', 'score': 2.95}, {'connected_gene': 'GC18M009550', 'score': 0.19}]
chr18 GH18I009721 9721534 9722787 0.59 [{'connected_gene': 'RAB31', 'score': 0.39}, {'connected_gene': 'LOC105371981', 'score': 0.39}, {'connected_gene': 'ENSG00000266891', 'score': 0.39}, {'connected_gene': 'GC18M009550', 'score': 0.22}]
chr18 GH18I009717 9717057 9718208 0.49 [{'connected_gene': 'RAB31', 'score': 0.44}, {'connected_gene': 'LOC105371981', 'score': 0.44}, {'connected_gene': 'ENSG00000266891', 'score': 0.37}, {'connected_gene': 'GC18M009550', 'score': 0.21}]
chr18 GH18I009712 9712744 9712913 0.58 [{'connected_gene': 'RAB31', 'score': 0.77}, {'connected_gene': 'LOC105371981', 'score': 0.77}, {'connected_gene': 'ENSG00000266891', 'score': 0.34}, {'connected_gene': 'GC18M009550', 'score': 0.2}]
chr18 GH18I009715 9715801 9716800 0.58 [{'connected_gene': 'RAB31', 'score': 0.44}, {'connected_gene': 'LOC105371981', 'score': 0.44}, {'connected_gene': 'ENSG00000266891', 'score': 0.37}, {'connected_gene': 'GC18M009550', 'score': 0.21}]
chr18 GH18I009730 9730702 9732093 0.51 [{'connected_gene': 'RNU6-903P', 'score': 11.12}, {'connected_gene': 'PPP4R1', 'score': 11.11}, {'connected_gene': 'TXNDC2', 'score': 10.91}, {'connected_gene': 'RAB31', 'score': 5.6}, {'connected_gene': 'ENSG00000266891', 'score': 0.77}, {'connected_gene': 'LOC105371981', 'score': 0.34}, {'connected_gene': 'GC18M009550', 'score': 0.25}]
chr18 GH18I009830 9830266 9831931 0.69 [{'connected_gene': 'RN7SL862P', 'score': 550.77}, {'connected_gene': 'VAPA', 'score': 12.26}, {'connected_gene': 'TXNDC2', 'score': 12.05}, {'connected_gene': 'RNA5SP449', 'score': 0.39}, {'connected_gene': 'RAB31', 'score': 0.13}]
chr18 GH18I009814 9814007 9815148 0.85 [{'connected_gene': 'RN7SL862P', 'score': 0.37}, {'connected_gene': 'ZNF415P1', 'score': 0.31}, {'connected_gene': 'RAB31', 'score': 0.14}]
chr18 GH18I009816 9816753 9819576 0.57 [{'connected_gene': 'RN7SL862P', 'score': 0.39}, {'connected_gene': 'ZNF415P1', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.14}]
chr18 GH18I009847 9846401 9846601 0.4 [{'connected_gene': 'RNA5SP449', 'score': 550.77}, {'connected_gene': 'VAPA', 'score': 5.94}, {'connected_gene': 'PIGPP4', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.12}]
chr18 GH18I009844 9844082 9844906 0.2 [{'connected_gene': 'RNA5SP449', 'score': 550.77}, {'connected_gene': 'VAPA', 'score': 6.74}, {'connected_gene': 'RN7SL862P', 'score': 0.39}, {'connected_gene': 'RAB31', 'score': 0.12}]
chr18 GH18I009846 9846604 9846753 0.51 [{'connected_gene': 'RNA5SP449', 'score': 550.77}, {'connected_gene': 'PIGPP4', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.12}]
chr18 GH18I009786 9786485 9787296 0.63 [{'connected_gene': 'ZNF415P1', 'score': 550.77}, {'connected_gene': 'TXNDC2', 'score': 11.73}, {'connected_gene': 'RN7SL862P', 'score': 0.26}, {'connected_gene': 'RAB31', 'score': 0.18}]
chr18 GH18I009733 9733508 9735905 1.15 [{'connected_gene': 'ENSG00000266891', 'score': 550.77}, {'connected_gene': 'PPP4R1', 'score': 11.11}, {'connected_gene': 'RNU6-903P', 'score': 11.11}, {'connected_gene': 'TXNDC2', 'score': 10.91}, {'connected_gene': 'RAB31', 'score': 5.13}, {'connected_gene': 'LOC105371981', 'score': 0.31}, {'connected_gene': 'GC18M009550', 'score': 0.26}]
chr18 GH18I010121 10121677 10123846 1.29 [{'connected_gene': 'ENSG00000265554', 'score': 10.09}, {'connected_gene': 'RAB31', 'score': 4.85}, {'connected_gene': 'VAPA', 'score': 1.83}, {'connected_gene': 'NAPG', 'score': 1.17}, {'connected_gene': 'LOC105371984', 'score': 0.28}]
chr18 GH18I009770 9770602 9776428 1.58 [{'connected_gene': 'ENSG00000263847', 'score': 12.91}, {'connected_gene': 'RAB31', 'score': 8.58}, {'connected_gene': 'VAPA', 'score': 2.41}, {'connected_gene': 'GC18M009550', 'score': 0.44}, {'connected_gene': 'ENSG00000266891', 'score': 0.28}]
chr18 GH18I010130 10130640 10130885 0.28 [{'connected_gene': 'ENSG00000265554', 'score': 8.49}, {'connected_gene': 'RAB31', 'score': 4.04}, {'connected_gene': 'VAPA', 'score': 1.73}, {'connected_gene': 'GC18P010162', 'score': 0.29}]
chr18 GH18I009746 9746322 9747618 0.31 [{'connected_gene': 'ENSG00000266891', 'score': 0.39}, {'connected_gene': 'GC18M009550', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.28}]
chr18 GH18I009777 9777543 9778833 0.31 [{'connected_gene': 'GC18M009550', 'score': 550.77}, {'connected_gene': 'ENSG00000266891', 'score': 0.26}, {'connected_gene': 'RAB31', 'score': 0.19}]
chr18 GH18I009771 9770384 9770533 0.4 [{'connected_gene': 'GC18M009550', 'score': 0.44}, {'connected_gene': 'ENSG00000266891', 'score': 0.29}, {'connected_gene': 'RAB31', 'score': 0.21}]
chr18 GH18I009779 9779224 9780255 1.23 [{'connected_gene': 'GC18M009550', 'score': 550.77}, {'connected_gene': 'ZNF415P1', 'score': 0.44}, {'connected_gene': 'RAB31', 'score': 0.19}]

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