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
ENST00000373129 [[36805224, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941], [36833448, 36833685], [36851323, 36851485]] [[36807355, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826933]]
ENST00000373130 [[36805224, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824438], [36826821, 36826941], [36851323, 36851489]] [[36807355, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824438], [36826821, 36826933]]
ENST00000373132 [[36805224, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941], [36851323, 36851497]] [[36807355, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826933]]
ENST00000460417 [[36820805, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941], [36831571, 36831673]] None
ENST00000482458 [[36820889, 36821034], [36823839, 36823983], [36824337, 36824438], [36826821, 36826941], [36833452, 36833685], [36851323, 36851480]] None
ENST00000359297 [[36805224, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941]] [[36808799, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826933]]
ENST00000473733 [[36820853, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941], [36828159, 36828257]] None
ENST00000460017 [[36833454, 36833685], [36838249, 36838375], [36851323, 36851477]] None
NM_032017 [[36805219, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941], [36833448, 36833685], [36851323, 36851528]] [[36807355, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826933]]
NM_001282546 [[36805219, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824438], [36826821, 36826941], [36851323, 36851528]] [[36807355, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824438], [36826821, 36826933]]
NM_001282547 [[36805219, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826941], [36851323, 36851528]] [[36807355, 36807574], [36808964, 36809049], [36809460, 36809580], [36809720, 36809865], [36814300, 36814416], [36819964, 36820017], [36820806, 36821034], [36823839, 36823983], [36824337, 36824423], [36826821, 36826933]]
Promoter
Chrom Start End Description
chr1 36820204 36820221 CAGE_peak_17_at_STK40_5end
chr1 36832023 36832034 CAGE_peak_20_at_STK40_5end
chr1 36851458 36851472 CAGE_peak_2_at_STK40_5end
chr1 36851475 36851482 CAGE_peak_3_at_STK40_5end
chr1 36851490 36851533 CAGE_peak_1_at_STK40_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I036396 36396264 36398757 2.27 [{'connected_gene': 'LSM10', 'score': 556.61}, {'connected_gene': 'AGO3', 'score': 12.56}, {'connected_gene': 'EVA1B', 'score': 10.2}, {'connected_gene': 'LOC105378647', 'score': 10.07}, {'connected_gene': 'OSCP1', 'score': 10.0}, {'connected_gene': 'COL8A2', 'score': 9.88}, {'connected_gene': 'STK40', 'score': 0.39}]
chr1 GH01I036384 36384249 36392017 2.33 [{'connected_gene': 'STK40', 'score': 556.91}, {'connected_gene': 'EVA1B', 'score': 37.82}, {'connected_gene': 'THRAP3', 'score': 30.35}, {'connected_gene': 'LOC105378647', 'score': 27.8}, {'connected_gene': 'TRAPPC3', 'score': 21.85}, {'connected_gene': 'AGO3', 'score': 21.83}, {'connected_gene': 'ENSG00000116883', 'score': 17.38}, {'connected_gene': 'SH3D21', 'score': 16.86}, {'connected_gene': 'SNORA63C', 'score': 11.53}, {'connected_gene': 'OSCP1', 'score': 11.45}, {'connected_gene': 'COL8A2', 'score': 9.88}, {'connected_gene': 'LSM10', 'score': 0.44}]
chr1 GH01I036385 36383926 36383979 0.56 [{'connected_gene': 'STK40', 'score': 564.8}, {'connected_gene': 'CSF3R', 'score': 21.54}, {'connected_gene': 'AGO3', 'score': 8.52}, {'connected_gene': 'THRAP3', 'score': 5.51}, {'connected_gene': 'MAP7D1', 'score': 3.82}, {'connected_gene': 'SH3D21', 'score': 3.7}, {'connected_gene': 'PIR50342', 'score': 0.31}]
chr1 GH01I036383 36383129 36383849 0.46 [{'connected_gene': 'STK40', 'score': 0.77}, {'connected_gene': 'PIR50342', 'score': 0.31}]
chr1 GH01I035553 35553853 35559878 2.51 [{'connected_gene': 'KIAA0319L', 'score': 560.04}, {'connected_gene': 'NCDN', 'score': 550.77}, {'connected_gene': 'ZMYM4', 'score': 45.98}, {'connected_gene': 'ZMYM6', 'score': 38.11}, {'connected_gene': 'SFPQ', 'score': 35.39}, {'connected_gene': 'AGO3', 'score': 34.12}, {'connected_gene': 'ZMYM1', 'score': 26.66}, {'connected_gene': 'LOC653160', 'score': 22.51}, {'connected_gene': 'ENSG00000230163', 'score': 13.76}, {'connected_gene': 'TRAPPC3', 'score': 13.3}, {'connected_gene': 'STK40', 'score': 12.85}, {'connected_gene': 'THRAP3', 'score': 10.68}, {'connected_gene': 'LOC105378647', 'score': 10.67}, {'connected_gene': 'OSCP1', 'score': 10.23}, {'connected_gene': 'PIR60316', 'score': 0.39}]
chr1 GH01I036299 36299384 36308182 2.48 [{'connected_gene': 'SH3D21', 'score': 558.66}, {'connected_gene': 'STK40', 'score': 13.0}, {'connected_gene': 'SNORA63C', 'score': 11.09}, {'connected_gene': 'OSCP1', 'score': 11.06}, {'connected_gene': 'TRAPPC3', 'score': 10.92}, {'connected_gene': 'MAP7D1', 'score': 10.92}, {'connected_gene': 'LSM10', 'score': 10.9}, {'connected_gene': 'RNU4-27P', 'score': 10.89}, {'connected_gene': 'LOC100128093', 'score': 10.33}, {'connected_gene': 'TEKT2', 'score': 10.33}, {'connected_gene': 'ADPRHL2', 'score': 10.33}, {'connected_gene': 'AGO3', 'score': 10.11}, {'connected_gene': 'EVA1B', 'score': 9.6}, {'connected_gene': 'ENSG00000116883', 'score': 7.93}, {'connected_gene': 'THRAP3', 'score': 7.08}, {'connected_gene': 'UBE2V2P4', 'score': 0.21}]
chr1 GH01I036463 36463200 36466142 2.15 [{'connected_gene': 'MRPS15', 'score': 550.77}, {'connected_gene': 'AGO3', 'score': 22.88}, {'connected_gene': 'THRAP3', 'score': 21.87}, {'connected_gene': 'LOC105378647', 'score': 19.0}, {'connected_gene': 'TRAPPC3', 'score': 13.33}, {'connected_gene': 'STK40', 'score': 13.01}, {'connected_gene': 'OSCP1', 'score': 12.82}, {'connected_gene': 'EVA1B', 'score': 10.12}, {'connected_gene': 'CSF3R', 'score': 0.37}]
chr1 GH01I036087 36087894 36090610 2.41 [{'connected_gene': 'ADPRHL2', 'score': 552.71}, {'connected_gene': 'SFPQ', 'score': 24.48}, {'connected_gene': 'ZMYM4', 'score': 22.42}, {'connected_gene': 'LOC105378647', 'score': 20.89}, {'connected_gene': 'TRAPPC3', 'score': 13.48}, {'connected_gene': 'STK40', 'score': 13.18}, {'connected_gene': 'AGO3', 'score': 12.0}, {'connected_gene': 'THRAP3', 'score': 10.77}, {'connected_gene': 'AGO1', 'score': 10.22}, {'connected_gene': 'TEKT2', 'score': 5.97}, {'connected_gene': 'SH3D21', 'score': 1.25}, {'connected_gene': 'COL8A2', 'score': 0.28}]
chr1 GH01I036148 36148400 36153296 2.65 [{'connected_gene': 'TRAPPC3', 'score': 550.44}, {'connected_gene': 'SFPQ', 'score': 37.85}, {'connected_gene': 'MAP7D1', 'score': 29.02}, {'connected_gene': 'AGO3', 'score': 24.8}, {'connected_gene': 'STK40', 'score': 16.44}, {'connected_gene': 'ZMYM4', 'score': 12.42}, {'connected_gene': 'THRAP3', 'score': 11.82}, {'connected_gene': 'COL8A2', 'score': 10.73}, {'connected_gene': 'LOC105378647', 'score': 10.14}, {'connected_gene': 'EVA1B', 'score': 10.1}, {'connected_gene': 'RPL5P4', 'score': 9.92}, {'connected_gene': 'SH3D21', 'score': 6.14}, {'connected_gene': 'CSF3R', 'score': 3.71}, {'connected_gene': 'AGO1', 'score': 3.1}, {'connected_gene': 'AGO4', 'score': 3.01}]
chr1 GH01I035965 35965548 35965787 0.25 [{'connected_gene': 'AGO4', 'score': 3.62}, {'connected_gene': 'AGO3', 'score': 3.08}, {'connected_gene': 'AGO1', 'score': 2.89}, {'connected_gene': 'STK40', 'score': 1.21}, {'connected_gene': 'ENSG00000271914', 'score': 0.28}, {'connected_gene': 'LOC105378647', 'score': 0.23}]
chr1 GH01I035929 35929771 35932612 2.34 [{'connected_gene': 'AGO3', 'score': 553.22}, {'connected_gene': 'ENSG00000271914', 'score': 550.77}, {'connected_gene': 'PIR61990', 'score': 550.77}, {'connected_gene': 'LOC653160', 'score': 13.24}, {'connected_gene': 'ZMYM1', 'score': 11.94}, {'connected_gene': 'SFPQ', 'score': 10.8}, {'connected_gene': 'ZMYM6', 'score': 10.39}, {'connected_gene': 'LOC105378647', 'score': 10.19}, {'connected_gene': 'EVA1B', 'score': 10.06}, {'connected_gene': 'C1orf216', 'score': 5.6}, {'connected_gene': 'THRAP3', 'score': 4.39}, {'connected_gene': 'STK40', 'score': 2.77}, {'connected_gene': 'AGO1', 'score': 1.55}, {'connected_gene': 'SH3D21', 'score': 1.16}]
chr1 GH01I035962 35962628 35962780 0.33 [{'connected_gene': 'AGO3', 'score': 14.92}, {'connected_gene': 'AGO1', 'score': 13.39}, {'connected_gene': 'ADPRHL2', 'score': 11.61}, {'connected_gene': 'LOC100128093', 'score': 11.61}, {'connected_gene': 'TEKT2', 'score': 11.61}, {'connected_gene': 'AGO4', 'score': 3.62}, {'connected_gene': 'THRAP3', 'score': 1.38}, {'connected_gene': 'STK40', 'score': 1.23}, {'connected_gene': 'ENSG00000271914', 'score': 0.29}, {'connected_gene': 'LOC105378647', 'score': 0.22}]
chr1 GH01I036347 36347999 36355744 1.55 [{'connected_gene': 'CSF3R', 'score': 35.38}, {'connected_gene': 'THRAP3', 'score': 8.85}, {'connected_gene': 'STK40', 'score': 7.74}, {'connected_gene': 'ENSG00000116883', 'score': 7.68}, {'connected_gene': 'SH3D21', 'score': 6.99}, {'connected_gene': 'AGO3', 'score': 6.38}, {'connected_gene': 'MAP7D1', 'score': 5.64}, {'connected_gene': 'AGO1', 'score': 4.46}, {'connected_gene': 'PIR50342', 'score': 0.77}, {'connected_gene': 'PIR56403', 'score': 0.44}]
chr1 GH01I036370 36370802 36381358 1.82 [{'connected_gene': 'CSF3R', 'score': 36.49}, {'connected_gene': 'STK40', 'score': 25.95}, {'connected_gene': 'AGO3', 'score': 14.24}, {'connected_gene': 'LSM10', 'score': 13.02}, {'connected_gene': 'RNU4-27P', 'score': 11.67}, {'connected_gene': 'SNORA63C', 'score': 11.64}, {'connected_gene': 'OSCP1', 'score': 11.57}, {'connected_gene': 'ENSG00000223944', 'score': 10.98}, {'connected_gene': 'EVA1B', 'score': 10.24}, {'connected_gene': 'LOC105378647', 'score': 10.08}, {'connected_gene': 'AGO1', 'score': 8.65}, {'connected_gene': 'ENSG00000116883', 'score': 8.38}, {'connected_gene': 'THRAP3', 'score': 8.37}, {'connected_gene': 'SH3D21', 'score': 7.0}, {'connected_gene': 'MAP7D1', 'score': 5.66}, {'connected_gene': 'PIR50342', 'score': 0.34}]
chr1 GH01I036358 36358882 36360997 1.06 [{'connected_gene': 'CSF3R', 'score': 33.53}, {'connected_gene': 'SH3D21', 'score': 13.27}, {'connected_gene': 'ENSG00000116883', 'score': 12.22}, {'connected_gene': 'EVA1B', 'score': 12.22}, {'connected_gene': 'SNORA63C', 'score': 11.88}, {'connected_gene': 'OSCP1', 'score': 11.82}, {'connected_gene': 'LSM10', 'score': 11.37}, {'connected_gene': 'RNU4-27P', 'score': 11.36}, {'connected_gene': 'THRAP3', 'score': 10.17}, {'connected_gene': 'STK40', 'score': 6.57}, {'connected_gene': 'AGO3', 'score': 6.53}, {'connected_gene': 'MAP7D1', 'score': 5.29}, {'connected_gene': 'AGO1', 'score': 4.01}, {'connected_gene': 'PIR50342', 'score': 0.44}]
chr1 GH01I036159 36159275 36168121 2.24 [{'connected_gene': 'CSF3R', 'score': 37.96}, {'connected_gene': 'MAP7D1', 'score': 33.63}, {'connected_gene': 'THRAP3', 'score': 31.67}, {'connected_gene': 'AGO4', 'score': 22.13}, {'connected_gene': 'SFPQ', 'score': 17.2}, {'connected_gene': 'STK40', 'score': 13.36}, {'connected_gene': 'RPL5P4', 'score': 13.34}, {'connected_gene': 'LOC105378647', 'score': 12.22}, {'connected_gene': 'COL8A2', 'score': 11.31}, {'connected_gene': 'EVA1B', 'score': 11.2}, {'connected_gene': 'AGO3', 'score': 11.17}, {'connected_gene': 'AGO1', 'score': 6.15}, {'connected_gene': 'TRAPPC3', 'score': 5.08}, {'connected_gene': 'SH3D21', 'score': 2.67}, {'connected_gene': 'LSM10', 'score': 1.47}, {'connected_gene': 'ADPRHL2', 'score': 1.34}, {'connected_gene': 'RN7SL131P', 'score': 0.31}]
chr1 GH01I036484 36484954 36489119 1.44 [{'connected_gene': 'CSF3R', 'score': 46.65}, {'connected_gene': 'OSCP1', 'score': 15.51}, {'connected_gene': 'MRPS15', 'score': 12.17}, {'connected_gene': 'SNORA63C', 'score': 10.26}, {'connected_gene': 'THRAP3', 'score': 9.01}, {'connected_gene': 'STK40', 'score': 8.77}, {'connected_gene': 'MAP7D1', 'score': 5.05}, {'connected_gene': 'SH3D21', 'score': 1.44}, {'connected_gene': 'LSM10', 'score': 1.41}, {'connected_gene': 'GC01M036518', 'score': 0.25}]
chr1 GH01I036392 36392156 36394197 0.38 [{'connected_gene': 'OSCP1', 'score': 9.75}, {'connected_gene': 'LSM10', 'score': 0.77}, {'connected_gene': 'STK40', 'score': 0.44}]
chr1 GH01I036381 36381667 36382255 0.31 [{'connected_gene': 'RNU4-27P', 'score': 11.7}, {'connected_gene': 'SNORA63C', 'score': 11.66}, {'connected_gene': 'OSCP1', 'score': 11.59}, {'connected_gene': 'ENSG00000116883', 'score': 6.68}, {'connected_gene': 'STK40', 'score': 0.77}, {'connected_gene': 'PIR50342', 'score': 0.31}]
chr1 GH01I036348 36347460 36347609 0.49 [{'connected_gene': 'PIR56403', 'score': 550.77}, {'connected_gene': 'PIR50342', 'score': 0.44}, {'connected_gene': 'STK40', 'score': 0.28}]
chr1 GH01I036361 36361532 36362337 0.2 [{'connected_gene': 'PIR50342', 'score': 0.44}, {'connected_gene': 'STK40', 'score': 0.34}]
chr1 GH01I036365 36365136 36370593 1.25 [{'connected_gene': 'ENSG00000116883', 'score': 7.09}, {'connected_gene': 'SH3D21', 'score': 6.07}, {'connected_gene': 'TRAPPC3', 'score': 5.68}, {'connected_gene': 'PIR50342', 'score': 0.39}, {'connected_gene': 'STK40', 'score': 0.37}]
chr1 GH01I036339 36339060 36345842 1.14 [{'connected_gene': 'PIR49451', 'score': 550.77}, {'connected_gene': 'SH3D21', 'score': 18.44}, {'connected_gene': 'SNORA63C', 'score': 12.3}, {'connected_gene': 'OSCP1', 'score': 12.26}, {'connected_gene': 'LSM10', 'score': 11.62}, {'connected_gene': 'RNU4-27P', 'score': 11.61}, {'connected_gene': 'TRAPPC3', 'score': 10.3}, {'connected_gene': 'MAP7D1', 'score': 10.3}, {'connected_gene': 'ENSG00000116883', 'score': 7.79}, {'connected_gene': 'PIR56403', 'score': 0.77}, {'connected_gene': 'STK40', 'score': 0.26}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.