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
ENST00000371581 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94257428, 94257518]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243085]]
ENST00000265986 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333833]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333776]]
ENST00000496903 [[94214025, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94238401, 94238546], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94257428, 94257490]] None
ENST00000478361 [[94234228, 94234718], [94235640, 94235751], [94238401, 94238546], [94239033, 94239178], [94240549, 94240673], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94314478, 94314526], [94314637, 94314674], [94318550, 94318679], [94318790, 94318972], [94333678, 94333824]] [[94318884, 94318972], [94333678, 94333776]]
ENST00000492362 [[94240313, 94240673], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94257428, 94257506]] None
ENST00000463640 [[94235701, 94235751], [94238401, 94238546], [94239033, 94239344]] None
ENST00000462988 [[94235728, 94235751], [94239033, 94239492]] None
ENST00000436178 [[94269889, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94301054, 94301110]] [[94269889, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94301054, 94301110]]
NM_001165946 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94257428, 94257518]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243085]]
NM_001322797 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94238401, 94238546], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94257428, 94257518]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94238401, 94238546], [94243011, 94243085]]
NM_001322796 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94332925, 94333263]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297282]]
NM_001322795 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94318790, 94318972], [94333678, 94333852]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297282]]
NR_136399 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94240549, 94240673], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333852]] None
NM_004969 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333852]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333776]]
NM_001322793 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94238401, 94238546], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333852]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94238401, 94238546], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274799], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333776]]
NM_001322794 [[94211440, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274682], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333852]] [[94214200, 94214296], [94215332, 94215400], [94216115, 94216188], [94220947, 94221009], [94223487, 94223760], [94225432, 94225600], [94228635, 94228747], [94230010, 94230102], [94234597, 94234718], [94235640, 94235751], [94239033, 94239178], [94243011, 94243094], [94246952, 94247075], [94250249, 94250352], [94264550, 94264654], [94266198, 94266279], [94267331, 94267423], [94267869, 94267962], [94268484, 94268647], [94269806, 94269919], [94274676, 94274682], [94291504, 94291674], [94294334, 94294542], [94297122, 94297307], [94333678, 94333776]]
Promoter
Chrom Start End Description
chr10 94257486 94257510 CAGE_peak_7_at_IDE_5end
chr10 94257512 94257524 CAGE_peak_11_at_IDE_5end
chr10 94266253 94266263 CAGE_peak_15_at_IDE_5end
chr10 94301107 94301111 CAGE_peak_18_at_IDE_5end
chr10 94333763 94333783 CAGE_peak_2_at_IDE_5end
chr10 94333784 94333860 CAGE_peak_1_at_IDE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I092833 92833437 92835699 1.69 [{'connected_gene': 'EXOC6', 'score': 550.77}, {'connected_gene': 'KIF11', 'score': 10.75}, {'connected_gene': 'IDE', 'score': 10.75}, {'connected_gene': 'MARCH5', 'score': 3.92}, {'connected_gene': 'GC10M092798', 'score': 0.31}]
chr10 GH10I092590 92590278 92595748 2.45 [{'connected_gene': 'KIF11', 'score': 555.88}, {'connected_gene': 'GC10P092594', 'score': 550.77}, {'connected_gene': 'GC10P092595', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 37.29}, {'connected_gene': 'TNKS2', 'score': 24.39}, {'connected_gene': 'RPL17P34', 'score': 14.12}, {'connected_gene': 'MYOF', 'score': 10.55}, {'connected_gene': 'EIF2S2P3', 'score': 7.39}, {'connected_gene': 'TNKS2-AS1', 'score': 4.31}, {'connected_gene': 'CPEB3', 'score': 2.15}, {'connected_gene': 'MARCH5', 'score': 1.26}, {'connected_gene': 'GC10M092594', 'score': 0.77}, {'connected_gene': 'IDE', 'score': 0.37}]
chr10 GH10I092572 92572208 92575362 2.08 [{'connected_gene': 'IDE', 'score': 565.01}, {'connected_gene': 'BTAF1', 'score': 49.03}, {'connected_gene': 'RPL17P34', 'score': 31.77}, {'connected_gene': 'MYOF', 'score': 12.48}, {'connected_gene': 'TNKS2', 'score': 10.28}, {'connected_gene': 'MARK2P9', 'score': 8.06}, {'connected_gene': 'EIF2S2P3', 'score': 4.25}, {'connected_gene': 'GC10M092559', 'score': 0.39}]
chr10 GH10I092541 92541744 92541893 0.46 [{'connected_gene': 'IDE', 'score': 11.7}, {'connected_gene': 'KIF11', 'score': 11.64}, {'connected_gene': 'GC10M092559', 'score': 0.37}, {'connected_gene': 'GC10M092442', 'score': 0.15}]
chr10 GH10I092497 92497751 92497810 0.5 [{'connected_gene': 'IDE', 'score': 561.74}, {'connected_gene': 'KIF11', 'score': 11.71}, {'connected_gene': 'GC10M092442', 'score': 0.22}, {'connected_gene': 'GC10M092559', 'score': 0.21}]
chr10 GH10I092544 92544357 92544842 0.59 [{'connected_gene': 'IDE', 'score': 12.54}, {'connected_gene': 'KIF11', 'score': 12.47}, {'connected_gene': 'GC10M092559', 'score': 0.37}, {'connected_gene': 'GC10M092442', 'score': 0.15}]
chr10 GH10I092608 92608064 92608152 0.25 [{'connected_gene': 'IDE', 'score': 12.14}, {'connected_gene': 'EIF2S2P3', 'score': 8.02}, {'connected_gene': 'CYP26C1', 'score': 3.96}, {'connected_gene': 'KIF11', 'score': 2.11}, {'connected_gene': 'GC10P092612', 'score': 0.77}, {'connected_gene': 'GC10M092594', 'score': 0.39}]
chr10 GH10I092688 92688560 92698661 2.48 [{'connected_gene': 'HHEX', 'score': 565.95}, {'connected_gene': 'BTAF1', 'score': 33.91}, {'connected_gene': 'RPL17P34', 'score': 27.24}, {'connected_gene': 'PDE6C', 'score': 25.3}, {'connected_gene': 'KIF11', 'score': 16.39}, {'connected_gene': 'IDE', 'score': 11.89}, {'connected_gene': 'TNKS2', 'score': 10.36}, {'connected_gene': 'EIF2S2P3', 'score': 4.68}, {'connected_gene': 'GC10M092666', 'score': 0.77}]
chr10 GH10I092640 92640244 92640393 0.57 [{'connected_gene': 'HHEX', 'score': 11.61}, {'connected_gene': 'KIF11', 'score': 11.04}, {'connected_gene': 'IDE', 'score': 11.0}, {'connected_gene': 'RN7SL644P', 'score': 0.37}, {'connected_gene': 'GC10P092612', 'score': 0.31}]
chr10 GH10I092644 92644110 92645118 0.97 [{'connected_gene': 'HHEX', 'score': 11.95}, {'connected_gene': 'KIF11', 'score': 11.55}, {'connected_gene': 'IDE', 'score': 11.51}, {'connected_gene': 'RN7SL644P', 'score': 0.39}, {'connected_gene': 'GC10P092612', 'score': 0.29}]
chr10 GH10I092449 92449713 92453327 0.46 [{'connected_gene': 'EIF2S2P3', 'score': 6.82}, {'connected_gene': 'MARK2P9', 'score': 6.32}, {'connected_gene': 'KIF11', 'score': 5.38}, {'connected_gene': 'TNKS2', 'score': 4.98}, {'connected_gene': 'GC10M092442', 'score': 0.39}, {'connected_gene': 'GC10M092559', 'score': 0.14}, {'connected_gene': 'IDE', 'score': 0.13}]
chr10 GH10I092490 92490444 92490593 0.31 [{'connected_gene': 'GC10M092442', 'score': 0.25}, {'connected_gene': 'GC10M092559', 'score': 0.19}, {'connected_gene': 'IDE', 'score': 0.18}]
chr10 GH10I092486 92486804 92486953 0.77 [{'connected_gene': 'GC10M092442', 'score': 0.25}, {'connected_gene': 'GC10M092559', 'score': 0.19}, {'connected_gene': 'IDE', 'score': 0.17}]
chr10 GH10I092517 92517124 92517273 0.73 [{'connected_gene': 'GC10M092559', 'score': 0.26}, {'connected_gene': 'IDE', 'score': 0.22}, {'connected_gene': 'GC10M092442', 'score': 0.18}]

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