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
ENST00000569681 [[50775960, 50776035], [50776672, 50776752], [50783486, 50784108]] [[50783609, 50784108]]
ENST00000569418 [[50775960, 50776035], [50776672, 50776752], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830792]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000540145 [[50775960, 50776035], [50776672, 50776752], [50778640, 50778777], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50810080, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50835846]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810080, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000569891 [[50775980, 50776035], [50776672, 50776752], [50778640, 50778777], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50820692]] None
ENST00000311559 [[50775984, 50776035], [50776672, 50776752], [50778640, 50778777], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50809076, 50809085], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50832528]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50809076, 50809085], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000564326 [[50775991, 50776035], [50783459, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830622]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000566206 [[50775996, 50776035], [50776672, 50776733], [50783459, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50829458, 50829635]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50829458, 50829514]]
ENST00000566679 [[50776020, 50776035], [50776672, 50776752], [50783459, 50784113], [50785514, 50785817], [50788229, 50788335]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335]]
ENST00000564634 [[50776028, 50776127], [50776672, 50776752], [50778640, 50778777], [50783486, 50783709]] [[50783609, 50783709]]
ENST00000398568 [[50776030, 50776127], [50776672, 50776752], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830793]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000427738 [[50776670, 50776752], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50809076, 50809085], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50835846]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50809076, 50809085], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000568704 [[50783459, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50831245]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
ENST00000563629 [[50783873, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50821657]] None
ENST00000563976 [[50810111, 50810188], [50811735, 50812205]] None
ENST00000562884 [[50827527, 50827575], [50828122, 50828799]] [[50827527, 50827575], [50828122, 50828389]]
ENST00000566024 [[50828204, 50828381], [50834730, 50834783], [50835665, 50835844]] [[50828204, 50828381], [50834730, 50834753]]
ENST00000568744 [[50834589, 50834783], [50835665, 50835841]] None
NM_001042355 [[50775960, 50776035], [50776672, 50776752], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50835846]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
NM_015247 [[50775960, 50776035], [50776672, 50776752], [50778640, 50778777], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50809076, 50809085], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50835846]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50809076, 50809085], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
NM_001042412 [[50776028, 50776127], [50776672, 50776752], [50783486, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50835846]] [[50783609, 50784113], [50785514, 50785817], [50788229, 50788335], [50810089, 50810188], [50811735, 50811852], [50813575, 50813955], [50815156, 50815322], [50816235, 50816377], [50818239, 50818362], [50820765, 50820857], [50821696, 50821763], [50825468, 50825601], [50826507, 50826616], [50827456, 50827575], [50828122, 50828339], [50830234, 50830419]]
Promoter
Chrom Start End Description
chr16 50775948 50775959 CAGE_peak_4_at_CYLD_5end
chr16 50775971 50776014 CAGE_peak_1_at_CYLD_5end
chr16 50776021 50776045 CAGE_peak_2_at_CYLD_5end
chr16 50776050 50776074 CAGE_peak_3_at_CYLD_5end
chr16 50776126 50776135 CAGE_peak_5_at_CYLD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I050702 50702001 50704090 0.85 [{'connected_gene': 'NOD2', 'score': 16.22}, {'connected_gene': 'CYLD', 'score': 3.43}, {'connected_gene': 'SNX20', 'score': 3.08}, {'connected_gene': 'ADCY7', 'score': 1.34}, {'connected_gene': 'PIR45400', 'score': 0.77}, {'connected_gene': 'GC16P050707', 'score': 0.77}]
chr16 GH16I050695 50695230 50700663 2.66 [{'connected_gene': 'NOD2', 'score': 611.99}, {'connected_gene': 'SNX20', 'score': 21.2}, {'connected_gene': 'CYLD', 'score': 10.32}, {'connected_gene': 'ADCY7', 'score': 3.43}, {'connected_gene': 'PIR45400', 'score': 0.44}, {'connected_gene': 'GC16P050707', 'score': 0.44}]
chr16 GH16I050721 50721508 50723060 0.83 [{'connected_gene': 'NOD2', 'score': 12.79}, {'connected_gene': 'SNX20', 'score': 12.46}, {'connected_gene': 'CYLD', 'score': 5.64}, {'connected_gene': 'ENSG00000270120', 'score': 0.44}]
chr16 GH16I050718 50718872 50720317 0.92 [{'connected_gene': 'NOD2', 'score': 13.28}, {'connected_gene': 'SNX20', 'score': 13.18}, {'connected_gene': 'ENSG00000270120', 'score': 0.44}, {'connected_gene': 'CYLD', 'score': 0.34}]
chr16 GH16I050280 50280460 50285305 1.48 [{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16 GH16I050766 50766247 50770303 0.2 [{'connected_gene': 'BRD7', 'score': 9.83}, {'connected_gene': 'NOD2', 'score': 9.71}, {'connected_gene': 'LOC102724907', 'score': 9.46}, {'connected_gene': 'CYLD', 'score': 0.31}, {'connected_gene': 'LOC105371251', 'score': 0.28}]
chr16 GH16I050326 50326132 50328690 0.77 [{'connected_gene': 'BRD7', 'score': 41.3}, {'connected_gene': 'CYLD', 'score': 11.07}, {'connected_gene': 'ENSG00000205414', 'score': 9.75}, {'connected_gene': 'GC16P050338', 'score': 0.39}, {'connected_gene': 'MIR6771', 'score': 0.29}]
chr16 GH16I050740 50740629 50748340 2.69 [{'connected_gene': 'CYLD', 'score': 561.57}, {'connected_gene': 'LOC102724907', 'score': 560.98}, {'connected_gene': 'NOD2', 'score': 38.31}, {'connected_gene': 'PAPD5', 'score': 19.54}, {'connected_gene': 'SNX20', 'score': 18.92}, {'connected_gene': 'BRD7', 'score': 10.1}, {'connected_gene': 'ADCY7', 'score': 2.35}, {'connected_gene': 'MIR3181', 'score': 0.77}, {'connected_gene': 'LOC105371251', 'score': 0.21}]
chr16 GH16I050771 50771470 50771619 0.38 [{'connected_gene': 'CYLD', 'score': 0.31}, {'connected_gene': 'LOC102724907', 'score': 0.31}, {'connected_gene': 'LOC105371251', 'score': 0.29}]
chr16 GH16I050759 50759335 50765442 0.59 [{'connected_gene': 'SNX20', 'score': 12.17}, {'connected_gene': 'PAPD5', 'score': 11.21}, {'connected_gene': 'BRD7', 'score': 10.17}, {'connected_gene': 'NOD2', 'score': 9.86}, {'connected_gene': 'LOC102724907', 'score': 9.52}, {'connected_gene': 'CYLD', 'score': 0.34}, {'connected_gene': 'LOC105371251', 'score': 0.26}]
chr16 GH16I050678 50678224 50686983 2.58 [{'connected_gene': 'SNX20', 'score': 581.45}, {'connected_gene': 'NOD2', 'score': 59.37}, {'connected_gene': 'BRD7', 'score': 19.9}, {'connected_gene': 'CYLD', 'score': 10.73}, {'connected_gene': 'ADCY7', 'score': 2.75}]
chr16 GH16I050724 50724464 50724826 0.46 [{'connected_gene': 'SNX20', 'score': 17.89}, {'connected_gene': 'NOD2', 'score': 12.26}, {'connected_gene': 'BRD7', 'score': 9.54}, {'connected_gene': 'CYLD', 'score': 5.72}, {'connected_gene': 'ENSG00000270120', 'score': 0.39}]
chr16 GH16I050731 50731175 50732291 0.69 [{'connected_gene': 'SNX20', 'score': 11.99}, {'connected_gene': 'NOD2', 'score': 11.45}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'ENSG00000270120', 'score': 0.37}]
chr16 GH16I050752 50752088 50754410 0.2 [{'connected_gene': 'SNX20', 'score': 12.01}, {'connected_gene': 'BRD7', 'score': 10.38}, {'connected_gene': 'NOD2', 'score': 9.95}, {'connected_gene': 'ENSG00000205414', 'score': 9.56}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'LOC105371251', 'score': 0.23}]
chr16 GH16I050756 50756019 50757652 0.31 [{'connected_gene': 'SNX20', 'score': 12.18}, {'connected_gene': 'BRD7', 'score': 10.38}, {'connected_gene': 'NOD2', 'score': 9.94}, {'connected_gene': 'ENSG00000205414', 'score': 9.55}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'LOC105371251', 'score': 0.25}]
chr16 GH16I050775 50775704 50776557 0.2 [{'connected_gene': 'SNX20', 'score': 11.59}, {'connected_gene': 'BRD7', 'score': 9.98}, {'connected_gene': 'ENSG00000205414', 'score': 9.72}, {'connected_gene': 'LOC105371251', 'score': 0.31}, {'connected_gene': 'CYLD', 'score': 0.29}, {'connected_gene': 'LOC102724907', 'score': 0.29}]
chr16 GH16I050735 50735790 50735939 0.77 [{'connected_gene': 'SNX20', 'score': 11.99}, {'connected_gene': 'CYLD', 'score': 0.44}, {'connected_gene': 'LOC102724907', 'score': 0.44}, {'connected_gene': 'ENSG00000270120', 'score': 0.34}]
chr16 GH16I050263 50263790 50269590 2.47 [{'connected_gene': 'ADCY7', 'score': 552.93}, {'connected_gene': 'PAPD5', 'score': 19.33}, {'connected_gene': 'CNEP1R1', 'score': 11.83}, {'connected_gene': 'BRD7', 'score': 10.84}, {'connected_gene': 'NKD1', 'score': 5.22}, {'connected_gene': 'CYLD', 'score': 3.41}, {'connected_gene': 'GC16P050277', 'score': 0.77}]
chr16 GH16I050333 50333444 50340173 1.27 [{'connected_gene': 'GC16P050338', 'score': 550.77}, {'connected_gene': 'BRD7', 'score': 44.43}, {'connected_gene': 'PAPD5', 'score': 2.99}, {'connected_gene': 'CYLD', 'score': 2.89}, {'connected_gene': 'ADCY7', 'score': 2.18}, {'connected_gene': 'MIR6771', 'score': 0.26}]
chr16 GH16I050713 50713685 50715288 0.76 [{'connected_gene': 'ENSG00000270120', 'score': 550.77}, {'connected_gene': 'CYLD', 'score': 6.19}, {'connected_gene': 'NOD2', 'score': 0.34}]

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