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
ENST00000369162 [[100956069, 100957409], [100957807, 100957983], [100960584, 100960794], [100964055, 100964203], [100965866, 100966018], [100988038, 100988263], [101037509, 101037644], [101037823, 101037935], [101049685, 101049811], [101053443, 101053576], [101054615, 101054736], [101054826, 101054964], [101073067, 101073210], [101075465, 101075586], [101075717, 101075863], [101076890, 101077057], [101079003, 101079089], [101086476, 101086697], [101090456, 101090625], [101091906, 101092005], [101094490, 101094645], [101095101, 101095327], [101098413, 101098590], [101099435, 101099522], [101100600, 101100765], [101103574, 101103694], [101109681, 101109906], [101110220, 101110412], [101127493, 101127628], [101163337, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315914], [101328936, 101329240]] [[100957261, 100957409], [100957807, 100957983], [100960584, 100960794], [100964055, 100964203], [100965866, 100966018], [100988038, 100988263], [101037509, 101037644], [101037823, 101037935], [101049685, 101049811], [101053443, 101053576], [101054615, 101054736], [101054826, 101054964], [101073067, 101073210], [101075465, 101075586], [101075717, 101075863], [101076890, 101077057], [101079003, 101079089], [101086476, 101086697], [101090456, 101090625], [101091906, 101092005], [101094490, 101094645], [101095101, 101095327], [101098413, 101098590], [101099435, 101099522], [101100600, 101100765], [101103574, 101103694], [101109681, 101109906], [101110220, 101110412], [101127493, 101127628], [101163337, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315873]]
ENST00000324696 [[101095163, 101095327], [101098413, 101098590], [101099435, 101099522], [101100600, 101100765], [101103574, 101103694], [101109681, 101109906], [101110220, 101110412], [101127493, 101127628], [101163337, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101315783, 101315914], [101328936, 101329248]] [[101296526, 101296583], [101315783, 101315873]]
ENST00000522650 [[101163005, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315914], [101328936, 101329240]] [[101163292, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315873]]
ENST00000468245 [[101295879, 101296583], [101311939, 101312090], [101315783, 101315914], [101328936, 101329177]] None
ENST00000324723 [[101296295, 101296583], [101311939, 101312090], [101315783, 101315908], [101328936, 101329224]] [[101296295, 101296583], [101311939, 101312090], [101315783, 101315873]]
ENST00000369143 [[101304178, 101307078], [101311939, 101312090], [101315783, 101315914], [101328936, 101329187]] [[101306983, 101307078], [101311939, 101312090], [101315783, 101315873]]
ENST00000518006 [[100957093, 100957409], [100957807, 100958184]] None
NM_006828 [[100956069, 100957409], [100957807, 100957983], [100960584, 100960794], [100964055, 100964203], [100965866, 100966018], [100988038, 100988263], [101037509, 101037644], [101037823, 101037935], [101049685, 101049811], [101053443, 101053576], [101054615, 101054736], [101054826, 101054964], [101073067, 101073210], [101075465, 101075586], [101075717, 101075863], [101076890, 101077057], [101079003, 101079089], [101086476, 101086697], [101090456, 101090625], [101091906, 101092005], [101094490, 101094645], [101095101, 101095327], [101098413, 101098590], [101099435, 101099522], [101100600, 101100765], [101103574, 101103694], [101109681, 101109906], [101110220, 101110412], [101127493, 101127628], [101163337, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315914], [101328936, 101329248]] [[100957261, 100957409], [100957807, 100957983], [100960584, 100960794], [100964055, 100964203], [100965866, 100966018], [100988038, 100988263], [101037509, 101037644], [101037823, 101037935], [101049685, 101049811], [101053443, 101053576], [101054615, 101054736], [101054826, 101054964], [101073067, 101073210], [101075465, 101075586], [101075717, 101075863], [101076890, 101077057], [101079003, 101079089], [101086476, 101086697], [101090456, 101090625], [101091906, 101092005], [101094490, 101094645], [101095101, 101095327], [101098413, 101098590], [101099435, 101099522], [101100600, 101100765], [101103574, 101103694], [101109681, 101109906], [101110220, 101110412], [101127493, 101127628], [101163337, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315873]]
NM_001284271 [[101163005, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315914], [101328936, 101329248]] [[101163292, 101163409], [101165950, 101166127], [101173414, 101173579], [101214440, 101214581], [101215020, 101215221], [101246588, 101246714], [101247306, 101247448], [101248175, 101248380], [101253635, 101253756], [101296023, 101296583], [101311939, 101312090], [101315783, 101315873]]
NM_022091 [[101304178, 101307078], [101311939, 101312090], [101315783, 101315914], [101328936, 101329248]] [[101306983, 101307078], [101311939, 101312090], [101315783, 101315873]]
Promoter
Chrom Start End Description
chr6 101329144 101329155 CAGE_peak_3_at_ASCC3_5end
chr6 101329157 101329190 CAGE_peak_2_at_ASCC3_5end
chr6 101329191 101329272 CAGE_peak_1_at_ASCC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I100460 100460748 100466158 1.09 [{'connected_gene': 'SIM1', 'score': 550.77}, {'connected_gene': 'ASCC3', 'score': 11.37}, {'connected_gene': 'LOC102724406', 'score': 11.18}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'GC06P100411', 'score': 0.23}]
chr6 GH06I100525 100525935 100526717 0.6 [{'connected_gene': 'LOC153893', 'score': 0.77}, {'connected_gene': 'GC06P100503', 'score': 0.34}, {'connected_gene': 'ASCC3', 'score': 0.05}]
chr6 GH06I100948 100948765 100948834 0.87 [{'connected_gene': 'ASCC3', 'score': 17.26}, {'connected_gene': 'LOC728098', 'score': 0.22}, {'connected_gene': 'LOC102724422', 'score': 0.2}, {'connected_gene': 'GC06P101131', 'score': 0.09}]
chr6 GH06I100891 100891892 100893378 0.46 [{'connected_gene': 'ASCC3', 'score': 13.32}, {'connected_gene': 'LOC728098', 'score': 0.77}, {'connected_gene': 'LOC102724422', 'score': 0.39}, {'connected_gene': 'GC06P101131', 'score': 0.07}]
chr6 GH06I100662 100662810 100664346 0.54 [{'connected_gene': 'ASCC3', 'score': 13.88}, {'connected_gene': 'GRIK2', 'score': 5.78}, {'connected_gene': 'GC06M100662', 'score': 0.25}, {'connected_gene': 'GC06P100560', 'score': 0.15}]
chr6 GH06I101401 101401712 101402200 0.74 [{'connected_gene': 'ASCC3', 'score': 10.45}, {'connected_gene': 'GRIK2', 'score': 0.44}, {'connected_gene': 'PIR46414', 'score': 0.31}]
chr6 GH06I101760 101760945 101761764 0.86 [{'connected_gene': 'ASCC3', 'score': 4.61}, {'connected_gene': 'GC06M101784', 'score': 0.34}, {'connected_gene': 'GC06P101550', 'score': 0.08}, {'connected_gene': 'GRIK2', 'score': 0.05}]
chr6 GH06I101206 101206258 101208906 0.43 [{'connected_gene': 'ASCC3', 'score': 4.31}, {'connected_gene': 'PIR53412', 'score': 0.21}, {'connected_gene': 'GRIK2', 'score': 0.09}]
chr6 GH06I101405 101402225 101402318 0.43 [{'connected_gene': 'ASCC3', 'score': 10.45}, {'connected_gene': 'GRIK2', 'score': 0.44}, {'connected_gene': 'PIR46414', 'score': 0.31}]
chr6 GH06I100877 100877757 100882297 2.04 [{'connected_gene': 'ASCC3', 'score': 580.89}, {'connected_gene': 'LOC102724422', 'score': 550.77}, {'connected_gene': 'GC06P100882', 'score': 550.77}, {'connected_gene': 'GRIK2', 'score': 10.94}, {'connected_gene': 'GC06M100662', 'score': 0.1}]
chr6 GH06I100466 100466742 100468110 0.46 [{'connected_gene': 'ASCC3', 'score': 16.36}, {'connected_gene': 'LOC102724406', 'score': 10.52}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'SIM1', 'score': 0.77}, {'connected_gene': 'GC06P100503', 'score': 0.28}, {'connected_gene': 'GC06P100411', 'score': 0.22}]
chr6 GH06I100453 100453333 100459683 1.45 [{'connected_gene': 'ASCC3', 'score': 18.84}, {'connected_gene': 'LOC102724406', 'score': 11.49}, {'connected_gene': 'RPS3P5', 'score': 4.63}, {'connected_gene': 'SIM1', 'score': 2.25}, {'connected_gene': 'GC06P100411', 'score': 0.26}]
chr6 GH06I100632 100632405 100634043 0.77 [{'connected_gene': 'ASCC3', 'score': 13.78}, {'connected_gene': 'GC06P100560', 'score': 0.19}, {'connected_gene': 'GC06M100662', 'score': 0.18}]
chr6 GH06I100617 100617538 100618854 0.66 [{'connected_gene': 'ASCC3', 'score': 11.68}, {'connected_gene': 'GC06P100560', 'score': 0.22}, {'connected_gene': 'GC06M100662', 'score': 0.16}]
chr6 GH06I100619 100619804 100620853 0.2 [{'connected_gene': 'ASCC3', 'score': 12.37}, {'connected_gene': 'GC06P100560', 'score': 0.22}, {'connected_gene': 'GC06M100662', 'score': 0.16}]
chr6 GH06I100720 100720201 100720684 0.95 [{'connected_gene': 'ASCC3', 'score': 12.88}, {'connected_gene': 'GC06M100662', 'score': 0.44}]
chr6 GH06I100592 100592984 100593264 1.11 [{'connected_gene': 'LOC102724422', 'score': 11.42}, {'connected_gene': 'GC06P100560', 'score': 0.29}, {'connected_gene': 'GC06M100662', 'score': 0.13}, {'connected_gene': 'ASCC3', 'score': 0.06}]
chr6 GH06I100446 100446358 100449013 0.54 [{'connected_gene': 'LOC102724406', 'score': 11.85}, {'connected_gene': 'ASCC3', 'score': 3.99}, {'connected_gene': 'SIM1', 'score': 0.37}, {'connected_gene': 'GC06P100411', 'score': 0.28}]
chr6 GH06I100514 100514645 100515146 0.4 [{'connected_gene': 'GC06P100503', 'score': 0.39}, {'connected_gene': 'LOC153893', 'score': 0.37}, {'connected_gene': 'ASCC3', 'score': 0.05}]
chr6 GH06I100512 100512605 100512754 0.2 [{'connected_gene': 'GC06P100503', 'score': 0.44}, {'connected_gene': 'LOC153893', 'score': 0.37}, {'connected_gene': 'ASCC3', 'score': 0.05}]
chr6 GH06I100504 100504434 100505961 0.79 [{'connected_gene': 'GC06P100503', 'score': 550.77}, {'connected_gene': 'ASCC3', 'score': 12.07}, {'connected_gene': 'LOC102724406', 'score': 10.21}, {'connected_gene': 'LOC153893', 'score': 0.31}]
chr6 GH06I100560 100560245 100561041 0.78 [{'connected_gene': 'GC06P100560', 'score': 550.77}, {'connected_gene': 'ASCC3', 'score': 5.2}, {'connected_gene': 'GC06M100662', 'score': 0.1}]
chr6 GH06I100612 100612273 100612540 0.4 [{'connected_gene': 'GC06P100560', 'score': 0.23}, {'connected_gene': 'GC06M100662', 'score': 0.15}, {'connected_gene': 'ASCC3', 'score': 0.06}]