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
ENST00000438015 [[125495035, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525640]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
ENST00000525396 [[125495559, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499332]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499332]]
ENST00000427383 [[125495620, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525371]] [[125495655, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
ENST00000428830 [[125495868, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525242], [125545822, 125546150]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
ENST00000532449 [[125495871, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525605]] None
ENST00000528761 [[125495872, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513802]] None
ENST00000544373 [[125495874, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125525119, 125525401]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125525119, 125525215]]
ENST00000527013 [[125495896, 125495924], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246]]
ENST00000526937 [[125495899, 125495929], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503145]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503145]]
ENST00000534685 [[125495901, 125495924], [125496311, 125496470], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499312]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499312]]
ENST00000533778 [[125496123, 125496537], [125496643, 125496728], [125497501, 125497563]] [[125496663, 125496728], [125497501, 125497563]]
ENST00000534070 [[125496235, 125496470], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125527031]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
ENST00000524737 [[125496452, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525242], [125526100, 125526230]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
ENST00000531607 [[125496642, 125496715], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503088]] None
ENST00000532669 [[125496642, 125496715], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507440]] [[125496663, 125496715], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507440]]
ENST00000278916 [[125496642, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125523640, 125523742], [125525119, 125525608]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125523640, 125523742], [125525119, 125525215]]
ENST00000531062 [[125503181, 125503246], [125505323, 125506030]] None
ENST00000528276 [[125512755, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525481]] None
ENST00000498122 [[125514466, 125514538], [125523640, 125523742], [125525119, 125525242], [125526100, 125526230], [125545822, 125546150]] None
NR_045204 [[125495030, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125527042]] None
NM_001244846 [[125495030, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125525119, 125527042]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125525119, 125525215]]
NM_001114122 [[125495030, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125527042]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
NM_001114121 [[125495030, 125495907], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525242], [125545822, 125546150]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
NM_001330427 [[125495318, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525242], [125545822, 125546151]] [[125495655, 125495907], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
NM_001330428 [[125496118, 125496537], [125496643, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125527049]] [[125496721, 125496728], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
NR_045205 [[125496123, 125496537], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125527042]] None
NM_001274 [[125496250, 125496470], [125496643, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125527042]] [[125496663, 125496728], [125497501, 125497725], [125499126, 125499191], [125499285, 125499355], [125503057, 125503246], [125505323, 125505428], [125507343, 125507439], [125513686, 125513795], [125513985, 125514163], [125514406, 125514538], [125523640, 125523742], [125525119, 125525215]]
Promoter
Chrom Start End Description
chr11 125495831 125495840 CAGE_peak_5_at_CHEK1_5end
chr11 125495862 125495882 CAGE_peak_1_at_CHEK1_5end
chr11 125496218 125496344 CAGE_peak_2_at_CHEK1_5end
chr11 125496400 125496464 CAGE_peak_3_at_CHEK1_5end
chr11 125496619 125496646 CAGE_peak_4_at_CHEK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125490 125490883 125492107 0.31 [{'connected_gene': 'EI24', 'score': 11.11}, {'connected_gene': 'RNU6-1156P', 'score': 11.1}, {'connected_gene': 'CHEK1', 'score': 6.82}, {'connected_gene': 'LOC403312', 'score': 0.77}, {'connected_gene': 'FEZ1', 'score': 0.77}, {'connected_gene': 'GC11P125484', 'score': 0.44}]
chr11 GH11I125890 125890168 125891271 0.67 [{'connected_gene': 'RPUSD4', 'score': 10.53}, {'connected_gene': 'PUS3', 'score': 7.29}, {'connected_gene': 'CHEK1', 'score': 6.12}, {'connected_gene': 'PIR58536', 'score': 0.77}, {'connected_gene': 'GC11P125889', 'score': 0.77}, {'connected_gene': 'PIR36090', 'score': 0.44}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11 GH11I125597 125597010 125597069 0.5 [{'connected_gene': 'STT3A', 'score': 550.44}, {'connected_gene': 'CHEK1', 'score': 12.08}, {'connected_gene': 'EI24', 'score': 11.43}, {'connected_gene': 'RNU6-1156P', 'score': 11.13}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I125800 125800186 125800572 0.39 [{'connected_gene': 'DDX25', 'score': 38.66}, {'connected_gene': 'CHEK1', 'score': 7.78}, {'connected_gene': 'PATE4', 'score': 6.09}, {'connected_gene': 'HYLS1', 'score': 5.8}, {'connected_gene': 'PATE1', 'score': 3.58}, {'connected_gene': 'PATE2', 'score': 2.39}, {'connected_gene': 'GC11P125812', 'score': 0.39}, {'connected_gene': 'PATE3', 'score': 0.39}]
chr11 GH11I125474 125474903 125487755 0.59 [{'connected_gene': 'FEZ1', 'score': 11.55}, {'connected_gene': 'EI24', 'score': 10.55}, {'connected_gene': 'RNU6-1156P', 'score': 10.54}, {'connected_gene': 'DDX25', 'score': 8.01}, {'connected_gene': 'PUS3', 'score': 6.66}, {'connected_gene': 'CHEK1', 'score': 5.85}, {'connected_gene': 'PATE4', 'score': 4.74}, {'connected_gene': 'GC11P125484', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.26}]
chr11 GH11I125690 125690960 125691084 0.22 [{'connected_gene': 'CHEK1', 'score': 10.7}, {'connected_gene': 'PIR40176', 'score': 0.77}, {'connected_gene': 'ACRV1', 'score': 0.44}]
chr11 GH11I125511 125511873 125517845 1.33 [{'connected_gene': 'CHEK1', 'score': 18.21}, {'connected_gene': 'FEZ1', 'score': 12.74}, {'connected_gene': 'EI24', 'score': 11.56}, {'connected_gene': 'RNU6-1156P', 'score': 11.0}, {'connected_gene': 'DDX25', 'score': 9.25}, {'connected_gene': 'SLC37A2', 'score': 4.6}]
chr11 GH11I125621 125621712 125622683 0.57 [{'connected_gene': 'CHEK1', 'score': 10.58}, {'connected_gene': 'FEZ1', 'score': 5.43}, {'connected_gene': 'STT3A-AS1', 'score': 0.31}, {'connected_gene': 'STT3A', 'score': 0.29}]
chr11 GH11I125624 125624374 125627766 2.11 [{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr11 GH11I125594 125594801 125595400 0.38 [{'connected_gene': 'RNU6-1156P', 'score': 11.93}, {'connected_gene': 'EI24', 'score': 11.9}, {'connected_gene': 'CHEK1', 'score': 11.86}, {'connected_gene': 'DDX25', 'score': 8.88}, {'connected_gene': 'FEZ1', 'score': 5.64}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}, {'connected_gene': 'STT3A', 'score': 0.77}]
chr11 GH11I125435 125435143 125436498 0.65 [{'connected_gene': 'RNU6-321P', 'score': 9.38}, {'connected_gene': 'DDX25', 'score': 5.77}, {'connected_gene': 'CHEK1', 'score': 4.96}, {'connected_gene': 'PIR57808', 'score': 0.77}, {'connected_gene': 'GC11P125442', 'score': 0.77}]
chr11 GH11I125437 125437776 125439355 0.2 [{'connected_gene': 'RNU6-321P', 'score': 9.28}, {'connected_gene': 'FEZ1', 'score': 8.85}, {'connected_gene': 'CHEK1', 'score': 4.63}, {'connected_gene': 'GC11P125442', 'score': 0.77}, {'connected_gene': 'PIR57808', 'score': 0.44}]
chr11 GH11I125424 125424392 125427282 0.31 [{'connected_gene': 'LOC105369549', 'score': 9.81}, {'connected_gene': 'CHEK1', 'score': 5.41}, {'connected_gene': 'HP11014', 'score': 5.25}, {'connected_gene': 'FEZ1', 'score': 4.9}, {'connected_gene': 'GC11P125428', 'score': 0.77}, {'connected_gene': 'GC11P125401', 'score': 0.31}, {'connected_gene': 'PKNOX2', 'score': 0.07}]
chr11 GH11I125874 125874626 125874775 0.66 [{'connected_gene': 'ENSG00000260209', 'score': 550.77}, {'connected_gene': 'PUS3', 'score': 10.48}, {'connected_gene': 'DDX25', 'score': 10.48}, {'connected_gene': 'PATE4', 'score': 10.09}, {'connected_gene': 'CHEK1', 'score': 6.43}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11 GH11I126374 126374403 126375973 0.2 [{'connected_gene': 'ENSG00000278215', 'score': 550.77}, {'connected_gene': 'ST3GAL4', 'score': 8.84}, {'connected_gene': 'FOXRED1', 'score': 7.26}, {'connected_gene': 'CHEK1', 'score': 4.37}]
chr11 GH11I125886 125886706 125888810 2.01 [{'connected_gene': 'GC11P125889', 'score': 550.77}, {'connected_gene': 'HYLS1', 'score': 550.77}, {'connected_gene': 'PIR58536', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 10.98}, {'connected_gene': 'TMEM218', 'score': 10.3}, {'connected_gene': 'STT3A', 'score': 9.96}, {'connected_gene': 'DDX25', 'score': 6.36}, {'connected_gene': 'CHEK1', 'score': 6.36}, {'connected_gene': 'PUS3', 'score': 4.62}, {'connected_gene': 'PIR36090', 'score': 0.39}]

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