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
ENST00000531863 [[66247483, 66247936], [66249663, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277021]] [[66247884, 66247936], [66249663, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
ENST00000532677 [[66247483, 66247936], [66249666, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277128]] [[66247884, 66247936], [66249666, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
ENST00000453114 [[66247879, 66247936], [66249666, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277130]] [[66249671, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
ENST00000360510 [[66247879, 66247936], [66249663, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277130]] [[66249671, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
ENST00000541961 [[66247901, 66247936], [66249650, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277128]] [[66249671, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
ENST00000531272 [[66247904, 66247936], [66249663, 66249941], [66250521, 66250640], [66252643, 66252733], [66254010, 66254063]] None
ENST00000532019 [[66247905, 66247936], [66249759, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255429]] [[66252679, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255429]]
ENST00000526515 [[66247908, 66247936], [66249663, 66249941], [66254010, 66254148], [66254738, 66254813], [66255384, 66255412]] [[66249671, 66249941], [66254010, 66254148], [66254738, 66254813], [66255384, 66255412]]
ENST00000530165 [[66247908, 66247936], [66249666, 66249941], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276816]] [[66249671, 66249941], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
ENST00000533725 [[66247909, 66247936], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259004]] [[66252679, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259004]]
ENST00000544603 [[66247914, 66247936], [66249666, 66249941], [66250521, 66250640], [66252643, 66252733], [66254010, 66254070]] None
ENST00000531314 [[66248211, 66248496], [66249663, 66249941]] [[66249671, 66249941]]
ENST00000531354 [[66249541, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255414]] [[66249671, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255414]]
ENST00000526250 [[66259075, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66263100, 66263221]] None
ENST00000526667 [[66259201, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262960], [66263100, 66263221]] None
ENST00000533799 [[66259899, 66259992], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262895]] None
ENST00000525738 [[66259937, 66260092], [66260186, 66260381], [66260537, 66260650]] None
ENST00000539085 [[66272115, 66272253], [66276549, 66276802]] None
NM_001256670 [[66247483, 66247936], [66249666, 66249941], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277130]] [[66249671, 66249941], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
NM_005700 [[66247483, 66247936], [66249666, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277130]] [[66249671, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
NM_130443 [[66247483, 66247936], [66249663, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66277130]] [[66249671, 66249941], [66252643, 66252733], [66254010, 66254148], [66254738, 66254813], [66255384, 66255478], [66258723, 66258854], [66258964, 66259095], [66259168, 66259227], [66260186, 66260381], [66260537, 66260650], [66261011, 66261104], [66262676, 66262739], [66262835, 66262960], [66263100, 66263221], [66264768, 66264948], [66272082, 66272245], [66276549, 66276722]]
Promoter
Chrom Start End Description
chr11 66247478 66247503 CAGE_peak_2_at_DPP3_5end
chr11 66247887 66247916 CAGE_peak_1_at_DPP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066601 66601590 66602811 0.68 [{'connected_gene': 'ACTN3', 'score': 47.31}, {'connected_gene': 'RBM4', 'score': 23.69}, {'connected_gene': 'ENSG00000258297', 'score': 15.39}, {'connected_gene': 'SF3B2', 'score': 13.01}, {'connected_gene': 'SART1', 'score': 12.7}, {'connected_gene': 'KAT5', 'score': 12.59}, {'connected_gene': 'RBM14', 'score': 12.55}, {'connected_gene': 'MUS81', 'score': 12.38}, {'connected_gene': 'ENSG00000255320', 'score': 12.08}, {'connected_gene': 'PCNX3', 'score': 11.74}, {'connected_gene': 'ZDHHC24', 'score': 11.2}, {'connected_gene': 'RBM4B', 'score': 11.06}, {'connected_gene': 'ENSG00000255038', 'score': 10.55}, {'connected_gene': 'ENSG00000245156', 'score': 10.39}, {'connected_gene': 'RNASEH2C', 'score': 10.05}, {'connected_gene': 'RCE1', 'score': 10.04}, {'connected_gene': 'ENSG00000201733', 'score': 9.48}, {'connected_gene': 'DPP3', 'score': 4.42}, {'connected_gene': 'GC11P066598', 'score': 0.77}, {'connected_gene': 'CCS', 'score': 0.44}, {'connected_gene': 'RNU4-39P', 'score': 0.39}]
chr11 GH11I066542 66542882 66549102 2.03 [{'connected_gene': 'ACTN3', 'score': 569.55}, {'connected_gene': 'ZDHHC24', 'score': 550.77}, {'connected_gene': 'KDM2A', 'score': 22.51}, {'connected_gene': 'EIF1AD', 'score': 19.32}, {'connected_gene': 'CTSF', 'score': 15.83}, {'connected_gene': 'DPP3', 'score': 14.34}, {'connected_gene': 'RBM14', 'score': 13.53}, {'connected_gene': 'LOC105369352', 'score': 12.6}, {'connected_gene': 'SSSCA1', 'score': 12.13}, {'connected_gene': 'RBM4', 'score': 10.37}, {'connected_gene': 'PCNX3', 'score': 10.08}, {'connected_gene': 'ENSG00000254461', 'score': 9.74}, {'connected_gene': 'RIN1', 'score': 4.25}, {'connected_gene': 'GC11M066536', 'score': 0.44}]
chr11 GH11I066491 66491060 66491714 0.38 [{'connected_gene': 'ACTN3', 'score': 43.84}, {'connected_gene': 'DPP3', 'score': 0.39}, {'connected_gene': 'LOC101928069', 'score': 0.39}, {'connected_gene': 'ENSG00000256349', 'score': 0.37}]
chr11 GH11I066567 66567974 66571325 1.81 [{'connected_gene': 'CTSF', 'score': 578.39}, {'connected_gene': 'ACTN3', 'score': 57.51}, {'connected_gene': 'DPP3', 'score': 13.85}, {'connected_gene': 'PIR41584', 'score': 0.44}]
chr11 GH11I066464 66464946 66468086 1.93 [{'connected_gene': 'MRPL11', 'score': 550.77}, {'connected_gene': 'PELI3', 'score': 550.77}, {'connected_gene': 'ACTN3', 'score': 44.08}, {'connected_gene': 'DPP3', 'score': 17.97}, {'connected_gene': 'LOC101928069', 'score': 4.77}]
chr11 GH11I066508 66508662 66511595 2.06 [{'connected_gene': 'BBS1', 'score': 550.77}, {'connected_gene': 'ENSG00000256349', 'score': 550.77}, {'connected_gene': 'ENSG00000258297', 'score': 36.55}, {'connected_gene': 'RBM14', 'score': 29.35}, {'connected_gene': 'RBM4', 'score': 28.81}, {'connected_gene': 'DPP3', 'score': 26.15}, {'connected_gene': 'EIF1AD', 'score': 26.11}, {'connected_gene': 'KDM2A', 'score': 25.15}, {'connected_gene': 'PCNX3', 'score': 24.96}, {'connected_gene': 'ENSG00000245156', 'score': 24.87}, {'connected_gene': 'MUS81', 'score': 23.64}, {'connected_gene': 'SART1', 'score': 23.04}, {'connected_gene': 'RAD9A', 'score': 22.88}, {'connected_gene': 'RELA', 'score': 21.18}, {'connected_gene': 'ENSG00000255038', 'score': 20.22}, {'connected_gene': 'ENSG00000255320', 'score': 19.97}, {'connected_gene': 'SF3B2', 'score': 17.94}, {'connected_gene': 'CTSF', 'score': 15.53}, {'connected_gene': 'CORO1B', 'score': 13.25}, {'connected_gene': 'RCE1', 'score': 11.81}, {'connected_gene': 'LOC101928069', 'score': 11.71}, {'connected_gene': 'MRPL11', 'score': 11.66}, {'connected_gene': 'PELI3', 'score': 11.66}, {'connected_gene': 'RPS6KB2', 'score': 11.21}, {'connected_gene': 'EHBP1L1', 'score': 10.79}, {'connected_gene': 'SSH3', 'score': 10.77}, {'connected_gene': 'RNU1-84P', 'score': 10.67}, {'connected_gene': 'BRD9P1', 'score': 10.67}, {'connected_gene': 'CLCF1', 'score': 10.65}, {'connected_gene': 'ZDHHC24', 'score': 10.59}, {'connected_gene': 'ACTN3', 'score': 10.59}, {'connected_gene': 'RBM4B', 'score': 10.57}, {'connected_gene': 'KAT5', 'score': 10.44}, {'connected_gene': 'LOC105369352', 'score': 10.15}, {'connected_gene': 'ENSG00000201733', 'score': 10.09}, {'connected_gene': 'CCS', 'score': 10.04}]
chr11 GH11I066973 66973492 66976565 1.69 [{'connected_gene': 'C11orf86', 'score': 550.77}, {'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'EIF1AD', 'score': 11.55}, {'connected_gene': 'RBM14', 'score': 11.3}, {'connected_gene': 'MRPL11', 'score': 10.66}, {'connected_gene': 'ENSG00000258297', 'score': 10.66}, {'connected_gene': 'DPP3', 'score': 4.69}, {'connected_gene': 'SPTBN2', 'score': 4.37}, {'connected_gene': 'PC', 'score': 0.37}]
chr11 GH11I066578 66578930 66579636 1.03 [{'connected_gene': 'ZDHHC24', 'score': 12.28}, {'connected_gene': 'ACTN3', 'score': 12.28}, {'connected_gene': 'RBM4B', 'score': 12.18}, {'connected_gene': 'LOC101928069', 'score': 11.74}, {'connected_gene': 'DPP3', 'score': 11.74}, {'connected_gene': 'MRPL11', 'score': 11.72}, {'connected_gene': 'PELI3', 'score': 11.72}, {'connected_gene': 'RBM14', 'score': 11.24}, {'connected_gene': 'RNU4-39P', 'score': 11.24}, {'connected_gene': 'RBM14-RBM4', 'score': 11.24}, {'connected_gene': 'PIR41584', 'score': 0.77}, {'connected_gene': 'PIR43271', 'score': 0.39}]
chr11 GH11I066495 66495070 66495159 0.46 [{'connected_gene': 'DPP3', 'score': 15.13}, {'connected_gene': 'CTSF', 'score': 11.68}, {'connected_gene': 'LOC101928069', 'score': 0.39}, {'connected_gene': 'ENSG00000256349', 'score': 0.39}]
chr11 GH11I066478 66478670 66482016 2.08 [{'connected_gene': 'DPP3', 'score': 566.97}, {'connected_gene': 'LOC101928069', 'score': 555.72}, {'connected_gene': 'EIF1AD', 'score': 45.33}, {'connected_gene': 'ACTN3', 'score': 43.55}, {'connected_gene': 'RBM14', 'score': 39.08}, {'connected_gene': 'RBM4', 'score': 37.73}, {'connected_gene': 'PCNX3', 'score': 37.46}, {'connected_gene': 'KDM2A', 'score': 36.73}, {'connected_gene': 'ENSG00000258297', 'score': 36.42}, {'connected_gene': 'LOC105369352', 'score': 29.31}, {'connected_gene': 'SCYL1', 'score': 28.4}, {'connected_gene': 'MRPL11', 'score': 27.8}, {'connected_gene': 'SART1', 'score': 25.96}, {'connected_gene': 'RELA', 'score': 25.87}, {'connected_gene': 'MUS81', 'score': 25.33}, {'connected_gene': 'ENSG00000255320', 'score': 25.26}, {'connected_gene': 'ENSG00000245156', 'score': 24.49}, {'connected_gene': 'KAT5', 'score': 22.68}, {'connected_gene': 'CORO1B', 'score': 22.62}, {'connected_gene': 'SSH3', 'score': 19.67}, {'connected_gene': 'RHOD', 'score': 13.85}, {'connected_gene': 'RAD9A', 'score': 13.26}, {'connected_gene': 'ENSG00000255038', 'score': 12.14}, {'connected_gene': 'SSSCA1', 'score': 12.13}, {'connected_gene': 'RAB1B', 'score': 11.43}, {'connected_gene': 'RPS6KB2', 'score': 11.25}, {'connected_gene': 'RCE1', 'score': 11.07}, {'connected_gene': 'SF3B2', 'score': 11.0}, {'connected_gene': 'CTSF', 'score': 10.77}, {'connected_gene': 'C11orf80', 'score': 10.57}, {'connected_gene': 'CLCF1', 'score': 9.98}, {'connected_gene': 'BRMS1', 'score': 9.92}, {'connected_gene': 'ENSG00000254461', 'score': 9.76}, {'connected_gene': 'ENSG00000256349', 'score': 0.31}]
chr11 GH11I066454 66454309 66454495 0.37 [{'connected_gene': 'LOC100505524', 'score': 550.77}, {'connected_gene': 'GC11P066455', 'score': 550.77}, {'connected_gene': 'LOC101928069', 'score': 12.25}, {'connected_gene': 'DPP3', 'score': 12.25}, {'connected_gene': 'RBM4', 'score': 11.5}, {'connected_gene': 'NPAS4', 'score': 11.44}, {'connected_gene': 'LOC100505504', 'score': 11.33}, {'connected_gene': 'RNU1-84P', 'score': 11.09}, {'connected_gene': 'BRD9P1', 'score': 11.09}, {'connected_gene': 'CD248', 'score': 9.62}, {'connected_gene': 'MRPL11', 'score': 0.39}, {'connected_gene': 'PELI3', 'score': 0.39}]
chr11 GH11I066408 66408409 66411181 1.47 [{'connected_gene': 'LOC100505504', 'score': 556.29}, {'connected_gene': 'RIN1', 'score': 14.94}, {'connected_gene': 'ACTN3', 'score': 13.59}, {'connected_gene': 'ENSG00000201733', 'score': 11.51}, {'connected_gene': 'SLC29A2', 'score': 11.29}, {'connected_gene': 'MRPL11', 'score': 11.16}, {'connected_gene': 'PELI3', 'score': 11.16}, {'connected_gene': 'LOC101928069', 'score': 11.13}, {'connected_gene': 'DPP3', 'score': 11.13}, {'connected_gene': 'ENSG00000255320', 'score': 9.58}, {'connected_gene': 'PACS1', 'score': 9.54}, {'connected_gene': 'NPAS4', 'score': 0.39}]
chr11 GH11I066386 66386072 66386800 0.99 [{'connected_gene': 'LOC100505504', 'score': 12.34}, {'connected_gene': 'NPAS4', 'score': 11.42}, {'connected_gene': 'ENSG00000201733', 'score': 11.11}, {'connected_gene': 'PELI3', 'score': 10.55}, {'connected_gene': 'MRPL11', 'score': 10.55}, {'connected_gene': 'LOC101928069', 'score': 10.53}, {'connected_gene': 'DPP3', 'score': 10.53}, {'connected_gene': 'YIF1A', 'score': 10.44}, {'connected_gene': 'TMEM151A', 'score': 10.39}, {'connected_gene': 'KLC2', 'score': 10.03}, {'connected_gene': 'ENSG00000254461', 'score': 10.03}, {'connected_gene': 'BRD9P1', 'score': 0.77}, {'connected_gene': 'ENSG00000276918', 'score': 0.39}]
chr11 GH11I066492 66492458 66493961 0.38 [{'connected_gene': 'ENSG00000201733', 'score': 10.99}, {'connected_gene': 'ZDHHC24', 'score': 10.73}, {'connected_gene': 'ACTN3', 'score': 10.73}, {'connected_gene': 'LOC100505504', 'score': 10.36}, {'connected_gene': 'LOC101928069', 'score': 5.32}, {'connected_gene': 'DPP3', 'score': 0.39}, {'connected_gene': 'ENSG00000256349', 'score': 0.37}]

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