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
ENST00000356537 [[27590834, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630151]] [[27593732, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
ENST00000520486 [[27590834, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] [[27610091, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
ENST00000520202 [[27592568, 27593762], [27597988, 27598034], [27605593, 27605796], [27610028, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630156]] [[27610091, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
ENST00000523841 [[27593329, 27593762], [27605593, 27605796], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630124]] [[27605761, 27605796], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
ENST00000519509 [[27593378, 27593762], [27597988, 27598034], [27605593, 27605796], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630157]] [[27605761, 27605796], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
ENST00000539095 [[27593385, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630157]] [[27593732, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610068]]
ENST00000522915 [[27593568, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27619935, 27619975], [27630029, 27630151]] [[27593732, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610068]]
ENST00000521220 [[27593594, 27593762], [27597988, 27598034], [27605593, 27605992]] None
ENST00000524084 [[27593679, 27593762], [27597988, 27598034], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630144]] [[27598017, 27598034], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
ENST00000519299 [[27605269, 27605796], [27606011, 27606065]] None
ENST00000519843 [[27605393, 27605796], [27610028, 27610106]] None
ENST00000517979 [[27605588, 27605796], [27606011, 27606115], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27621802, 27622050], [27622720, 27622768], [27630029, 27630130]] [[27622045, 27622050], [27622720, 27622768], [27630029, 27630057]]
NM_018246 [[27590832, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] [[27593732, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
NR_130761 [[27590832, 27593762], [27605593, 27605796], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] None
NM_001304529 [[27590832, 27593762], [27597988, 27598034], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] [[27598017, 27598034], [27610028, 27610104], [27614235, 27614287], [27619935, 27619975], [27622720, 27622768], [27630029, 27630057]]
NM_001304532 [[27590832, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] [[27593732, 27593762], [27597988, 27598034], [27605593, 27605796], [27606011, 27606115], [27610028, 27610068]]
NM_001304530 [[27590832, 27593762], [27605593, 27605796], [27606011, 27606115], [27610028, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] [[27593704, 27593762], [27605593, 27605796], [27606011, 27606115], [27610028, 27610068]]
NR_130762 [[27590832, 27593762], [27597988, 27598034], [27605593, 27605796], [27610028, 27610104], [27619935, 27619975], [27622720, 27622768], [27630029, 27630170]] None
Promoter
Chrom Start End Description
chr8 27606125 27606134 CAGE_peak_6_at_CCDC25_5end
chr8 27606152 27606165 CAGE_peak_3_at_CCDC25_5end
chr8 27630102 27630172 CAGE_peak_1_at_CCDC25_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I028657 28657202 28658905 1.17 [{'connected_gene': 'INTS9', 'score': 11.37}, {'connected_gene': 'FZD3', 'score': 10.05}, {'connected_gene': 'CCDC25', 'score': 9.97}, {'connected_gene': 'ELP3', 'score': 9.87}, {'connected_gene': 'GC08P028669', 'score': 0.44}, {'connected_gene': 'LOC105379345', 'score': 0.28}, {'connected_gene': 'EXTL3', 'score': 0.22}]
chr8 GH08I027871 27871603 27873936 1.67 [{'connected_gene': 'CCDC25', 'score': 8.29}, {'connected_gene': 'SCARA3', 'score': 5.49}, {'connected_gene': 'PBK', 'score': 1.62}, {'connected_gene': 'ELP3', 'score': 1.43}, {'connected_gene': 'MIR4287', 'score': 0.39}, {'connected_gene': 'LOC100130612', 'score': 0.29}, {'connected_gene': 'SCARA5', 'score': 0.13}]
chr8 GH08I027855 27855821 27857097 0.77 [{'connected_gene': 'CCDC25', 'score': 13.2}, {'connected_gene': 'SCARA5', 'score': 11.23}, {'connected_gene': 'NUGGC', 'score': 10.16}, {'connected_gene': 'LOC100130612', 'score': 0.37}, {'connected_gene': 'MIR4287', 'score': 0.31}]
chr8 GH08I027962 27962984 27963133 0.56 [{'connected_gene': 'CCDC25', 'score': 11.52}, {'connected_gene': 'SCARA5', 'score': 11.39}, {'connected_gene': 'ENSG00000253397', 'score': 0.22}]
chr8 GH08I027386 27386155 27392104 1.32 [{'connected_gene': 'CCDC25', 'score': 20.51}, {'connected_gene': 'EPHX2', 'score': 15.58}, {'connected_gene': 'PTK2B', 'score': 11.22}, {'connected_gene': 'CHRNA2', 'score': 10.17}, {'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'MIR6842', 'score': 0.26}]
chr8 GH08I027602 27602144 27604630 1.22 [{'connected_gene': 'CCDC25', 'score': 20.23}, {'connected_gene': 'ENSG00000253875', 'score': 15.11}, {'connected_gene': 'EPHX2', 'score': 11.31}, {'connected_gene': 'CHRNA2', 'score': 11.31}, {'connected_gene': 'ELP3', 'score': 9.89}, {'connected_gene': 'ESCO2', 'score': 9.85}, {'connected_gene': 'RNU6-1276P', 'score': 9.85}, {'connected_gene': 'GULOP', 'score': 6.95}, {'connected_gene': 'MIR6843', 'score': 0.44}, {'connected_gene': 'CLU', 'score': 0.39}]
chr8 GH08I027771 27771563 27775535 2.33 [{'connected_gene': 'CCDC25', 'score': 572.56}, {'connected_gene': 'ESCO2', 'score': 561.65}, {'connected_gene': 'GC08P027774', 'score': 550.77}, {'connected_gene': 'RNU6-1276P', 'score': 550.77}, {'connected_gene': 'CLU', 'score': 9.97}, {'connected_gene': 'ELP3', 'score': 9.78}, {'connected_gene': 'SCARA3', 'score': 4.66}]
chr8 GH08I027740 27740013 27741355 0.52 [{'connected_gene': 'CCDC25', 'score': 32.37}, {'connected_gene': 'ESCO2', 'score': 20.27}, {'connected_gene': 'RNU6-1276P', 'score': 10.99}, {'connected_gene': 'CLU', 'score': 10.08}, {'connected_gene': 'ENSG00000253875', 'score': 0.44}]
chr8 GH08I027765 27765675 27766748 0.59 [{'connected_gene': 'CCDC25', 'score': 21.25}, {'connected_gene': 'ESCO2', 'score': 0.44}, {'connected_gene': 'ENSG00000253875', 'score': 0.29}]
chr8 GH08I027727 27727201 27727599 1.26 [{'connected_gene': 'CCDC25', 'score': 11.73}, {'connected_gene': 'CLU', 'score': 10.82}, {'connected_gene': 'ESCO2', 'score': 10.69}, {'connected_gene': 'RNU6-1276P', 'score': 10.68}, {'connected_gene': 'ENSG00000253875', 'score': 0.44}, {'connected_gene': 'MIR3622B', 'score': 0.31}]
chr8 GH08I027676 27676184 27676333 0.31 [{'connected_gene': 'CCDC25', 'score': 10.71}, {'connected_gene': 'CLU', 'score': 10.62}, {'connected_gene': 'RNU6-1086P', 'score': 0.77}, {'connected_gene': 'SCARA3', 'score': 0.26}]
chr8 GH08I027677 27676061 27676131 0.2 [{'connected_gene': 'CCDC25', 'score': 10.71}, {'connected_gene': 'CLU', 'score': 10.62}, {'connected_gene': 'RNU6-1086P', 'score': 0.77}, {'connected_gene': 'SCARA3', 'score': 0.26}]
chr8 GH08I027729 27729949 27730640 0.69 [{'connected_gene': 'CCDC25', 'score': 32.63}, {'connected_gene': 'CLU', 'score': 10.81}, {'connected_gene': 'RNU6-1276P', 'score': 10.69}, {'connected_gene': 'ESCO2', 'score': 10.69}, {'connected_gene': 'SCARA3', 'score': 7.1}, {'connected_gene': 'ENSG00000253875', 'score': 0.77}, {'connected_gene': 'MIR3622B', 'score': 0.31}]
chr8 GH08I027719 27719474 27720863 0.63 [{'connected_gene': 'CCDC25', 'score': 16.27}, {'connected_gene': 'RNU6-1086P', 'score': 11.3}, {'connected_gene': 'CLU', 'score': 11.27}, {'connected_gene': 'ZNF395', 'score': 11.14}, {'connected_gene': 'SCARA3', 'score': 6.35}, {'connected_gene': 'ENSG00000253875', 'score': 0.39}, {'connected_gene': 'MIR3622B', 'score': 0.37}]
chr8 GH08I027625 27625036 27626864 0.96 [{'connected_gene': 'CCDC25', 'score': 11.03}, {'connected_gene': 'RNU6-1276P', 'score': 9.58}, {'connected_gene': 'ESCO2', 'score': 9.58}, {'connected_gene': 'SCARA3', 'score': 0.44}, {'connected_gene': 'CLU', 'score': 0.39}]
chr8 GH08I027744 27744159 27746423 0.38 [{'connected_gene': 'CCDC25', 'score': 32.49}, {'connected_gene': 'RNU6-1276P', 'score': 11.2}, {'connected_gene': 'ESCO2', 'score': 11.2}, {'connected_gene': 'CLU', 'score': 10.39}, {'connected_gene': 'ENSG00000253875', 'score': 0.39}]
chr8 GH08I027874 27874247 27874985 0.58 [{'connected_gene': 'CCDC25', 'score': 8.16}, {'connected_gene': 'MIR4287', 'score': 0.39}, {'connected_gene': 'LOC100130612', 'score': 0.28}, {'connected_gene': 'SCARA5', 'score': 0.13}]
chr8 GH08I027853 27853439 27854614 0.2 [{'connected_gene': 'CCDC25', 'score': 12.92}, {'connected_gene': 'LOC100130612', 'score': 0.37}, {'connected_gene': 'MIR4287', 'score': 0.29}]
chr8 GH08I027675 27675001 27675600 0.95 [{'connected_gene': 'SCARA3', 'score': 14.54}, {'connected_gene': 'CCDC25', 'score': 10.71}, {'connected_gene': 'CLU', 'score': 10.62}, {'connected_gene': 'RNU6-1086P', 'score': 0.77}]
chr8 GH08I027945 27945405 27950021 1.22 [{'connected_gene': 'SCARA5', 'score': 17.32}, {'connected_gene': 'CCDC25', 'score': 11.53}, {'connected_gene': 'ENSG00000253397', 'score': 0.26}]
chr8 GH08I027863 27863733 27864442 1.09 [{'connected_gene': 'SCARA5', 'score': 11.48}, {'connected_gene': 'LOC100130612', 'score': 11.06}, {'connected_gene': 'PBK', 'score': 11.06}, {'connected_gene': 'CCDC25', 'score': 8.65}, {'connected_gene': 'MIR4287', 'score': 0.34}]
chr8 GH08I027372 27372890 27382792 2.03 [{'connected_gene': 'PTK2B', 'score': 561.74}, {'connected_gene': 'CCDC25', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'MIR6842', 'score': 0.22}]
chr8 GH08I027769 27769237 27770190 0.43 [{'connected_gene': 'ESCO2', 'score': 560.2}, {'connected_gene': 'CCDC25', 'score': 0.77}, {'connected_gene': 'ENSG00000253875', 'score': 0.28}]
chr8 GH08I027671 27671899 27674308 0.31 [{'connected_gene': 'CLU', 'score': 10.94}, {'connected_gene': 'ENSG00000253875', 'score': 10.85}, {'connected_gene': 'CCDC25', 'score': 10.71}, {'connected_gene': 'EPHX2', 'score': 10.34}, {'connected_gene': 'CHRNA2', 'score': 10.34}, {'connected_gene': 'SCARA3', 'score': 4.87}, {'connected_gene': 'RNU6-1086P', 'score': 0.44}]
chr8 GH08I027653 27653584 27653733 0.46 [{'connected_gene': 'RNU6-1086P', 'score': 11.43}, {'connected_gene': 'CLU', 'score': 11.27}, {'connected_gene': 'CCDC25', 'score': 10.4}, {'connected_gene': 'EPHX2', 'score': 10.21}, {'connected_gene': 'CHRNA2', 'score': 10.2}, {'connected_gene': 'SCARA3', 'score': 5.23}]
chr8 GH08I027827 27827764 27827873 0.56 [{'connected_gene': 'RNU6-1276P', 'score': 10.69}, {'connected_gene': 'CCDC25', 'score': 10.68}, {'connected_gene': 'ESCO2', 'score': 10.68}, {'connected_gene': 'PBK', 'score': 0.39}]
chr8 GH08I027606 27606077 27606898 0.46 [{'connected_gene': 'RNU6-1276P', 'score': 9.81}, {'connected_gene': 'CCDC25', 'score': 9.81}, {'connected_gene': 'ESCO2', 'score': 9.81}, {'connected_gene': 'GULOP', 'score': 6.45}, {'connected_gene': 'MIR6843', 'score': 0.77}, {'connected_gene': 'CLU', 'score': 0.44}]
chr8 GH08I027383 27383272 27385834 0.63 [{'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'CCDC25', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'EPHX2', 'score': 4.76}, {'connected_gene': 'MIR6842', 'score': 0.25}, {'connected_gene': 'PTK2B', 'score': 0.19}]
chr8 GH08I027607 27607784 27609383 0.9 [{'connected_gene': 'RNU6-1276P', 'score': 9.81}, {'connected_gene': 'CCDC25', 'score': 9.81}, {'connected_gene': 'ESCO2', 'score': 9.81}, {'connected_gene': 'CLU', 'score': 6.27}, {'connected_gene': 'MIR6843', 'score': 0.77}, {'connected_gene': 'GULOP', 'score': 0.25}]
chr8 GH08I027886 27886364 27886513 0.4 [{'connected_gene': 'MIR4287', 'score': 550.77}, {'connected_gene': 'CCDC25', 'score': 6.37}, {'connected_gene': 'LOC105379342', 'score': 0.37}, {'connected_gene': 'SCARA5', 'score': 0.14}]
chr8 GH08I027835 27835811 27838953 2.31 [{'connected_gene': 'LOC100130612', 'score': 550.77}, {'connected_gene': 'PBK', 'score': 550.77}, {'connected_gene': 'CCDC25', 'score': 15.73}, {'connected_gene': 'ESCO2', 'score': 14.86}, {'connected_gene': 'RNU6-1276P', 'score': 0.21}]
chr8 GH08I027731 27731320 27737883 0.43 [{'connected_gene': 'ENSG00000253875', 'score': 550.77}, {'connected_gene': 'CCDC25', 'score': 33.22}, {'connected_gene': 'ESCO2', 'score': 21.23}, {'connected_gene': 'RNU6-1276P', 'score': 11.19}, {'connected_gene': 'CLU', 'score': 10.81}, {'connected_gene': 'SCARA3', 'score': 7.04}]
chr8 GH08I027748 27748604 27748713 0.2 [{'connected_gene': 'ENSG00000253875', 'score': 0.37}, {'connected_gene': 'CCDC25', 'score': 0.34}, {'connected_gene': 'ESCO2', 'score': 0.34}]
chr8 GH08I027750 27750424 27750653 0.85 [{'connected_gene': 'ENSG00000253875', 'score': 0.37}, {'connected_gene': 'CCDC25', 'score': 0.34}, {'connected_gene': 'ESCO2', 'score': 0.34}]
chr8 GH08I027900 27900146 27903390 0.87 [{'connected_gene': 'ENSG00000253290', 'score': 561.85}, {'connected_gene': 'LOC105379342', 'score': 550.77}, {'connected_gene': 'ENSG00000253615', 'score': 550.77}, {'connected_gene': 'ENSG00000253397', 'score': 6.51}, {'connected_gene': 'CCDC25', 'score': 5.38}, {'connected_gene': 'MIR4287', 'score': 0.37}, {'connected_gene': 'SCARA5', 'score': 0.16}]

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