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
ENST00000373103 [[36931643, 36932509], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947138], [36948411, 36948879]] [[36931957, 36932509], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000373106 [[36931643, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947138], [36948411, 36948879]] [[36931957, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000373104 [[36931643, 36931801], [36932221, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947138], [36948411, 36948879]] [[36931696, 36931801], [36932221, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000480825 [[36931644, 36932912], [36933158, 36933252], [36933422, 36934858], [36935252, 36935441], [36937033, 36937740], [36937838, 36937992], [36938117, 36939223], [36939319, 36939488], [36940977, 36941928]] None
ENST00000361632 [[36931644, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947120]] [[36931957, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000464465 [[36931683, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36935252, 36935441], [36937033, 36937075]] [[36931957, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36935252, 36935441], [36937033, 36937075]]
ENST00000331941 [[36931696, 36931801], [36932221, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]] [[36931696, 36931801], [36932221, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000487540 [[36931718, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933591], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937988]] None
ENST00000418048 [[36931718, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]] [[36931957, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000338937 [[36931718, 36932428], [36932830, 36932912], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]] [[36932064, 36932428], [36932830, 36932912], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000440588 [[36931957, 36932509], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]] [[36931957, 36932509], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
ENST00000484762 [[36932182, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933677]] None
ENST00000466138 [[36932829, 36932912], [36933158, 36933410]] None
ENST00000464365 [[36934348, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941013]] None
ENST00000469380 [[36938969, 36939223], [36939364, 36939431]] None
ENST00000526980 [[36942583, 36943278], [36945033, 36945117], [36947078, 36947138], [36948411, 36948500]] None
ENST00000489551 [[36944514, 36945117], [36947078, 36947138], [36948411, 36948535]] None
ENST00000533491 [[36945032, 36945117], [36945587, 36945681], [36947078, 36947138], [36947379, 36947652]] [[36945032, 36945097]]
NM_156039 [[36931643, 36932509], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947138], [36948411, 36948915]] [[36931957, 36932509], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
NM_000760 [[36931643, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947138], [36948411, 36948915]] [[36931957, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
NM_172313 [[36931643, 36931801], [36932221, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945117], [36947078, 36947138], [36948411, 36948915]] [[36931696, 36931801], [36932221, 36932428], [36932830, 36932912], [36933158, 36933252], [36933422, 36933563], [36933675, 36933822], [36934756, 36934858], [36935252, 36935441], [36937033, 36937247], [36937666, 36937740], [36937838, 36937992], [36938117, 36938287], [36939035, 36939223], [36939364, 36939488], [36940977, 36941274], [36945033, 36945097]]
Promoter
Chrom Start End Description
chr1 36933719 36933741 CAGE_peak_4_at_CSF3R_5end
chr1 36938229 36938239 CAGE_peak_34_at_CSF3R_5end
chr1 36938272 36938282 CAGE_peak_35_at_CSF3R_5end
chr1 36941018 36941027 CAGE_peak_5_at_CSF3R_5end
chr1 36941215 36941226 CAGE_peak_8_at_CSF3R_5end
chr1 36941538 36941549 CAGE_peak_12_at_CSF3R_5end
chr1 36948025 36948047 CAGE_peak_6_at_CSF3R_5end
chr1 36948050 36948062 CAGE_peak_15_at_CSF3R_5end
chr1 36948458 36948479 CAGE_peak_2_at_CSF3R_5end
chr1 36948482 36948504 CAGE_peak_3_at_CSF3R_5end
chr1 36948505 36948540 CAGE_peak_1_at_CSF3R_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I036516 36516440 36516589 0.75 [{'connected_gene': 'THRAP3', 'score': 12.3}, {'connected_gene': 'LOC105378647', 'score': 12.16}, {'connected_gene': 'CSF3R', 'score': 12.05}, {'connected_gene': 'MRPS15', 'score': 11.99}, {'connected_gene': 'EVA1B', 'score': 11.19}, {'connected_gene': 'OSCP1', 'score': 10.77}, {'connected_gene': 'GC01M036518', 'score': 0.37}]
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 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 GH01I036489 36489600 36489749 0.71 [{'connected_gene': 'MRPS15', 'score': 12.14}, {'connected_gene': 'OSCP1', 'score': 10.84}, {'connected_gene': 'SNORA63C', 'score': 10.25}, {'connected_gene': 'CSF3R', 'score': 0.44}, {'connected_gene': 'GC01M036518', 'score': 0.26}]
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 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 GH01I036481 36481141 36483900 1.75 [{'connected_gene': 'CSF3R', 'score': 550.77}, {'connected_gene': 'OSCP1', 'score': 17.96}, {'connected_gene': 'SNORA63C', 'score': 10.59}, {'connected_gene': 'MRPS15', 'score': 0.37}]
chr1 GH01I036446 36446401 36447000 0.66 [{'connected_gene': 'CSF3R', 'score': 11.65}, {'connected_gene': 'SNORA63C', 'score': 11.04}, {'connected_gene': 'LSM10', 'score': 10.74}, {'connected_gene': 'OSCP1', 'score': 7.26}, {'connected_gene': 'GC01M036420', 'score': 0.31}]
chr1 GH01I036512 36512043 36513027 0.43 [{'connected_gene': 'OSCP1', 'score': 5.82}, {'connected_gene': 'GC01M036518', 'score': 0.37}, {'connected_gene': 'CSF3R', 'score': 0.31}]
chr1 GH01I036474 36474818 36474896 0.22 [{'connected_gene': 'OSCP1', 'score': 11.33}, {'connected_gene': 'SNORA63C', 'score': 10.6}, {'connected_gene': 'CSF3R', 'score': 3.01}, {'connected_gene': 'MRPS15', 'score': 0.39}]
chr1 GH01I036492 36492700 36492849 0.82 [{'connected_gene': 'OSCP1', 'score': 10.75}, {'connected_gene': 'RNU4-27P', 'score': 9.93}, {'connected_gene': 'LSM10', 'score': 9.92}, {'connected_gene': 'CSF3R', 'score': 0.44}, {'connected_gene': 'GC01M036518', 'score': 0.28}]

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