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
ENST00000470907 [[74759540, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74776495, 74776790]] None
ENST00000264094 [[74759564, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779773], [74781002, 74781062]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779761]]
ENST00000409249 [[74759730, 74760806], [74761008, 74761120], [74761226, 74761363], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779774]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779761]]
ENST00000393937 [[74760256, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74777311, 74777475], [74779448, 74779773], [74781002, 74781085]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74777311, 74777475], [74779448, 74779761]]
ENST00000409549 [[74760379, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74763122, 74763277], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74780211]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74763122, 74763277], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779761]]
ENST00000409986 [[74760854, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74777311, 74777475], [74779448, 74779773], [74781002, 74781088]] [[74761000, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74777311, 74777475], [74779448, 74779761]]
ENST00000481835 [[74762415, 74762581], [74763122, 74763277], [74763417, 74763598], [74776495, 74776703]] None
ENST00000420535 [[74762770, 74762882], [74763122, 74763277], [74763417, 74763598], [74776495, 74776586]] [[74762770, 74762882], [74763122, 74763277], [74763417, 74763598], [74776495, 74776586]]
ENST00000413469 [[74763837, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779773], [74782738, 74782817]] [[74763837, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779761]]
ENST00000484369 [[74766919, 74766976], [74776495, 74776710], [74777311, 74777475], [74779448, 74779774]] None
NM_001289165 [[74759384, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74776495, 74776790]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763427]]
NM_032603 [[74759384, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779773], [74781002, 74781122]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74763835, 74764055], [74776495, 74776710], [74777311, 74777475], [74779448, 74779761]]
NM_001289164 [[74759384, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74777311, 74777475], [74779448, 74779773], [74781002, 74781122]] [[74760732, 74760806], [74761008, 74761120], [74761226, 74761363], [74761442, 74761558], [74761657, 74761901], [74762418, 74762581], [74762714, 74762882], [74763122, 74763277], [74763417, 74763598], [74777311, 74777475], [74779448, 74779761]]
Promoter
Chrom Start End Description
chr2 74776606 74776631 CAGE_peak_5_at_LOXL3_5end
chr2 74776647 74776658 CAGE_peak_9_at_LOXL3_5end
chr2 74779744 74779760 CAGE_peak_21_at_LOXL3_5end
chr2 74779917 74779926 CAGE_peak_26_at_LOXL3_5end
chr2 74780119 74780126 CAGE_peak_20_at_LOXL3_5end
chr2 74780176 74780259 CAGE_peak_2_at_LOXL3_5end
chr2 74780643 74780673 CAGE_peak_30_at_LOXL3_5end
chr2 74781033 74781046 CAGE_peak_4_at_LOXL3_5end
chr2 74781061 74781076 CAGE_peak_1_at_LOXL3_5end
chr2 74782818 74782845 CAGE_peak_3_at_LOXL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I074487 74487910 74492766 1.12 [{'connected_gene': 'LBX2', 'score': 23.21}, {'connected_gene': 'HTRA2', 'score': 11.82}, {'connected_gene': 'AUP1', 'score': 11.82}, {'connected_gene': 'DQX1', 'score': 11.79}, {'connected_gene': 'MOGS', 'score': 11.59}, {'connected_gene': 'TLX2', 'score': 11.59}, {'connected_gene': 'WBP1', 'score': 11.55}, {'connected_gene': 'DOK1', 'score': 10.9}, {'connected_gene': 'LOXL3', 'score': 10.88}, {'connected_gene': 'CCDC142', 'score': 0.44}, {'connected_gene': 'GC02P074500', 'score': 0.44}, {'connected_gene': 'TTC31', 'score': 0.44}]
chr2 GH02I074566 74566300 74569355 1.26 [{'connected_gene': 'LBX2', 'score': 13.64}, {'connected_gene': 'WBP1', 'score': 12.66}, {'connected_gene': 'HTRA2', 'score': 11.56}, {'connected_gene': 'AUP1', 'score': 11.56}, {'connected_gene': 'TLX2', 'score': 10.94}, {'connected_gene': 'PCGF1', 'score': 10.93}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.24}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'DOK1', 'score': 3.64}, {'connected_gene': 'LOXL3', 'score': 1.87}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074587 74587600 74588001 0.98 [{'connected_gene': 'LBX2', 'score': 22.32}, {'connected_gene': 'DOK1', 'score': 15.79}, {'connected_gene': 'MRPL53', 'score': 11.92}, {'connected_gene': 'HTRA2', 'score': 11.41}, {'connected_gene': 'AUP1', 'score': 11.41}, {'connected_gene': 'PCGF1', 'score': 11.4}, {'connected_gene': 'DQX1', 'score': 11.16}, {'connected_gene': 'LOXL3', 'score': 11.13}, {'connected_gene': 'CCDC142', 'score': 11.11}, {'connected_gene': 'TTC31', 'score': 11.11}, {'connected_gene': 'TLX2', 'score': 10.98}, {'connected_gene': 'M1AP', 'score': 10.01}, {'connected_gene': 'SEMA4F', 'score': 10.0}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2 GH02I074538 74538873 74539877 0.9 [{'connected_gene': 'PCGF1', 'score': 11.18}, {'connected_gene': 'LBX2', 'score': 11.16}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DOK1', 'score': 0.44}, {'connected_gene': 'AUP1', 'score': 0.44}, {'connected_gene': 'LOXL3', 'score': 0.37}]
chr2 GH02I074583 74583142 74584763 1.32 [{'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'DOK1', 'score': 11.78}, {'connected_gene': 'HTRA2', 'score': 11.63}, {'connected_gene': 'AUP1', 'score': 11.63}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.31}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074608', 'score': 0.34}, {'connected_gene': 'GC02M074606', 'score': 0.34}]
chr2 GH02I074556 74556850 74557846 0.31 [{'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'DOK1', 'score': 0.44}, {'connected_gene': 'GC02M074608', 'score': 0.25}, {'connected_gene': 'GC02M074606', 'score': 0.25}]
chr2 GH02I074563 74563883 74564881 0.66 [{'connected_gene': 'LOXL3', 'score': 0.44}, {'connected_gene': 'GC02M074608', 'score': 0.26}, {'connected_gene': 'GC02M074606', 'score': 0.26}, {'connected_gene': 'M1AP', 'score': 0.18}]
chr2 GH02I074570 74570655 74574999 1.52 [{'connected_gene': 'AUP1', 'score': 26.44}, {'connected_gene': 'MOGS', 'score': 24.76}, {'connected_gene': 'PCGF1', 'score': 24.2}, {'connected_gene': 'HTRA2', 'score': 22.96}, {'connected_gene': 'DOK1', 'score': 17.38}, {'connected_gene': 'TTC31', 'score': 15.05}, {'connected_gene': 'CCDC142', 'score': 14.17}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'LBX2-AS1', 'score': 12.57}, {'connected_gene': 'MOB1A', 'score': 11.97}, {'connected_gene': 'ENSG00000273245', 'score': 11.13}, {'connected_gene': 'LBX2', 'score': 11.09}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DQX1', 'score': 10.86}, {'connected_gene': 'MRPL53', 'score': 10.56}, {'connected_gene': 'WBP1', 'score': 10.54}, {'connected_gene': 'RTKN', 'score': 9.99}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.37}, {'connected_gene': 'GC02M074608', 'score': 0.29}, {'connected_gene': 'GC02M074606', 'score': 0.29}]
chr2 GH02I074528 74528127 74532523 2.1 [{'connected_gene': 'AUP1', 'score': 563.12}, {'connected_gene': 'HTRA2', 'score': 560.69}, {'connected_gene': 'LBX2', 'score': 31.68}, {'connected_gene': 'TTC31', 'score': 23.73}, {'connected_gene': 'CCDC142', 'score': 22.36}, {'connected_gene': 'PCGF1', 'score': 21.89}, {'connected_gene': 'DUSP11', 'score': 13.28}, {'connected_gene': 'MOB1A', 'score': 13.22}, {'connected_gene': 'MOGS', 'score': 12.88}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'ENSG00000273245', 'score': 11.67}, {'connected_gene': 'LOXL3', 'score': 11.21}, {'connected_gene': 'WBP1', 'score': 10.79}, {'connected_gene': 'DGUOK-AS1', 'score': 10.02}, {'connected_gene': 'M1AP', 'score': 9.35}, {'connected_gene': 'SEMA4F', 'score': 9.35}, {'connected_gene': 'DOK1', 'score': 0.37}]
chr2 GH02I074569 74569535 74570537 0.43 [{'connected_gene': 'HTRA2', 'score': 22.46}, {'connected_gene': 'MOB1A', 'score': 15.02}, {'connected_gene': 'DUSP11', 'score': 14.86}, {'connected_gene': 'DOK1', 'score': 11.89}, {'connected_gene': 'AUP1', 'score': 11.54}, {'connected_gene': 'TTC31', 'score': 11.51}, {'connected_gene': 'ENSG00000273245', 'score': 11.42}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ACTG2', 'score': 10.91}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'LBX2', 'score': 10.47}, {'connected_gene': 'WBP1', 'score': 10.47}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'ENSG00000270571', 'score': 10.39}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.39}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074551 74550761 74550783 0.4 [{'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 10.72}, {'connected_gene': 'MRPL53', 'score': 10.68}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'TLX2', 'score': 10.38}, {'connected_gene': 'PCGF1', 'score': 10.37}, {'connected_gene': 'DOK1', 'score': 0.77}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2 GH02I074585 74585401 74585800 0.8 [{'connected_gene': 'DOK1', 'score': 16.79}, {'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'HTRA2', 'score': 11.62}, {'connected_gene': 'AUP1', 'score': 11.62}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.32}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2 GH02I074575 74575378 74578799 1.4 [{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
chr2 GH02I074550 74550915 74556528 2.21 [{'connected_gene': 'DOK1', 'score': 555.78}, {'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'LBX2-AS1', 'score': 12.09}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'TLX2', 'score': 11.07}, {'connected_gene': 'PCGF1', 'score': 11.06}, {'connected_gene': 'DQX1', 'score': 10.7}, {'connected_gene': 'MRPL53', 'score': 10.67}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'M1AP', 'score': 5.85}, {'connected_gene': 'INO80B', 'score': 4.5}]
chr2 GH02I074548 74548306 74550165 2.12 [{'connected_gene': 'DOK1', 'score': 550.77}, {'connected_gene': 'M1AP', 'score': 4.54}, {'connected_gene': 'INO80B', 'score': 4.51}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2 GH02I074539 74538545 74538784 0.37 [{'connected_gene': 'LBX2-AS1', 'score': 20.54}, {'connected_gene': 'LBX2', 'score': 12.85}, {'connected_gene': 'PCGF1', 'score': 11.18}, {'connected_gene': 'DOK1', 'score': 3.14}, {'connected_gene': 'LOXL3', 'score': 2.44}, {'connected_gene': 'WBP1', 'score': 2.03}, {'connected_gene': 'AUP1', 'score': 0.44}]
chr2 GH02I074593 74593567 74595256 0.57 [{'connected_gene': 'LBX2-AS1', 'score': 12.5}, {'connected_gene': 'GC02M074608', 'score': 0.39}, {'connected_gene': 'GC02M074606', 'score': 0.39}, {'connected_gene': 'LOXL3', 'score': 0.28}, {'connected_gene': 'M1AP', 'score': 0.23}]
chr2 GH02I074631 74631874 74633350 0.54 [{'connected_gene': 'SEMA4F', 'score': 11.99}, {'connected_gene': 'LOXL3', 'score': 9.87}, {'connected_gene': 'LBX2-AS1', 'score': 4.84}, {'connected_gene': 'TVP23BP2', 'score': 0.77}, {'connected_gene': 'GC02P074646', 'score': 0.39}, {'connected_gene': 'M1AP', 'score': 0.37}]

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