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
ENST00000521891 [[77593453, 77593855], [77616277, 77618913], [77619780, 77620283], [77690443, 77690675], [77745573, 77745642], [77754890, 77755007], [77761230, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77779521]] [[77616323, 77618913], [77619780, 77620283], [77690443, 77690675], [77745573, 77745642], [77754890, 77755007], [77761230, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77776801]]
ENST00000517683 [[77593473, 77593855], [77690443, 77690675]] None
ENST00000458716 [[77593514, 77593855], [77616277, 77618913], [77619858, 77620493]] None
ENST00000050961 [[77593514, 77593855], [77616277, 77618913], [77619858, 77620283], [77690443, 77690675], [77745573, 77745625], [77754900, 77755007], [77761260, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77768574, 77768583], [77775350, 77776801]] [[77616323, 77618913], [77619858, 77620283], [77690443, 77690675], [77745573, 77745625], [77754900, 77755007], [77761260, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77768574, 77768583], [77775350, 77776801]]
ENST00000455469 [[77593514, 77593855], [77616277, 77618913], [77619858, 77620283], [77690443, 77690675], [77745573, 77745625], [77754900, 77755007], [77761260, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77779520]] [[77616323, 77618913], [77619858, 77620283], [77690443, 77690675], [77745573, 77745625], [77754900, 77755007], [77761260, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77776801]]
ENST00000518282 [[77616279, 77618913], [77619858, 77620283], [77690443, 77690675], [77745573, 77745642], [77754890, 77755007], [77761230, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77778159]] [[77616323, 77618913], [77619858, 77620283], [77690443, 77690675], [77745573, 77745642], [77754890, 77755007], [77761230, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77776801]]
ENST00000523625 [[77690517, 77690675], [77745573, 77745642], [77746356, 77746670], [77754890, 77755007], [77761230, 77761364], [77761747, 77761944]] [[77690517, 77690675], [77745573, 77745642], [77746356, 77746376]]
ENST00000524290 [[77690523, 77690675], [77745573, 77745862]] None
ENST00000519536 [[77690523, 77690675], [77694378, 77694454], [77745573, 77745642], [77754890, 77755007], [77761230, 77761307]] [[77690523, 77690675], [77694378, 77694454], [77745573, 77745604]]
ENST00000520307 [[77594761, 77594867], [77616277, 77616789]] [[77616323, 77616789]]
ENST00000523885 [[77596015, 77596190], [77616277, 77616626]] [[77616323, 77616626]]
ENST00000517585 [[77605640, 77605741], [77616277, 77616789]] [[77616323, 77616789]]
ENST00000523809 [[77605667, 77605741], [77615832, 77615853], [77616277, 77616743]] [[77616323, 77616743]]
ENST00000522409 [[77762035, 77762598], [77763121, 77763181]] None
NM_024721 [[77593514, 77593855], [77616277, 77618913], [77619780, 77620283], [77690443, 77690675], [77745573, 77745642], [77754890, 77755007], [77761230, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77779521]] [[77616323, 77618913], [77619780, 77620283], [77690443, 77690675], [77745573, 77745642], [77754890, 77755007], [77761230, 77761364], [77761747, 77761948], [77762480, 77762598], [77763121, 77768536], [77775329, 77776801]]
Promoter
Chrom Start End Description
chr8 77593448 77593471 CAGE_peak_2_at_ZFHX4_5end
chr8 77593474 77593612 CAGE_peak_1_at_ZFHX4_5end
chr8 77593629 77593641 CAGE_peak_10_at_ZFHX4_5end
chr8 77593750 77593757 CAGE_peak_3_at_ZFHX4_5end
chr8 77595678 77595688 CAGE_peak_9_at_ZFHX4_5end
chr8 77596014 77596033 CAGE_peak_6_at_ZFHX4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I076672 76672167 76675563 1.86 [{'connected_gene': 'ZFHX4', 'score': 2.22}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.44}, {'connected_gene': 'MRPL9P1', 'score': 0.2}]
chr8 GH08I076665 76665797 76666066 0.51 [{'connected_gene': 'ZFHX4', 'score': 0.37}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.37}, {'connected_gene': 'MRPL9P1', 'score': 0.21}]
chr8 GH08I076666 76665291 76665638 0.51 [{'connected_gene': 'ZFHX4', 'score': 0.37}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.37}, {'connected_gene': 'MRPL9P1', 'score': 0.21}]
chr8 GH08I076669 76669960 76670257 0.89 [{'connected_gene': 'ZFHX4', 'score': 0.39}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.39}, {'connected_gene': 'MRPL9P1', 'score': 0.2}]
chr8 GH08I076680 76680267 76685517 2.7 [{'connected_gene': 'ZFHX4', 'score': 550.77}, {'connected_gene': 'ZFHX4-AS1', 'score': 550.77}, {'connected_gene': 'HIGD1AP18', 'score': 4.09}]
chr8 GH08I076847 76847817 76848189 0.4 [{'connected_gene': 'ZFHX4', 'score': 6.79}, {'connected_gene': 'GC08P076864', 'score': 0.37}, {'connected_gene': 'GC08M076785', 'score': 0.22}]
chr8 GH08I076819 76819149 76819166 0.22 [{'connected_gene': 'ZFHX4', 'score': 3.85}, {'connected_gene': 'GC08M076785', 'score': 0.31}, {'connected_gene': 'GC08P076864', 'score': 0.25}]
chr8 GH08I076663 76663575 76663825 0.4 [{'connected_gene': 'MRPL9P1', 'score': 4.56}, {'connected_gene': 'ZFHX4', 'score': 0.37}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.37}]
chr8 GH08I076617 76617566 76617715 0.49 [{'connected_gene': 'MRPL9P1', 'score': 0.39}, {'connected_gene': 'ZFHX4', 'score': 0.21}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.2}]
chr8 GH08I076676 76676175 76679960 1.44 [{'connected_gene': 'ZFHX4-AS1', 'score': 5.28}, {'connected_gene': 'ZFHX4', 'score': 2.83}, {'connected_gene': 'MRPL9P1', 'score': 0.19}]
chr8 GH08I076685 76685772 76688410 1.87 [{'connected_gene': 'ZFHX4-AS1', 'score': 0.77}, {'connected_gene': 'ZFHX4', 'score': 0.44}, {'connected_gene': 'GC08P076707', 'score': 0.34}]
chr8 GH08I076698 76698422 76700733 1.17 [{'connected_gene': 'ZFHX4-AS1', 'score': 4.47}, {'connected_gene': 'GC08P076707', 'score': 0.44}, {'connected_gene': 'ZFHX4', 'score': 0.37}]
chr8 GH08I076696 76696277 76696603 0.6 [{'connected_gene': 'ZFHX4-AS1', 'score': 0.39}, {'connected_gene': 'GC08P076707', 'score': 0.39}, {'connected_gene': 'ZFHX4', 'score': 0.37}]
chr8 GH08I076778 76778028 76779543 1.23 [{'connected_gene': 'ZFHX4-AS1', 'score': 4.68}, {'connected_gene': 'GC08M076785', 'score': 0.39}, {'connected_gene': 'GC08M076743', 'score': 0.29}, {'connected_gene': 'ZFHX4', 'score': 0.15}]
chr8 GH08I076702 76702179 76707064 0.49 [{'connected_gene': 'GC08P076707', 'score': 0.77}, {'connected_gene': 'ZFHX4', 'score': 0.34}, {'connected_gene': 'ZFHX4-AS1', 'score': 0.34}]
chr8 GH08I076839 76839317 76842107 1.26 [{'connected_gene': 'GC08P076864', 'score': 0.34}, {'connected_gene': 'GC08M076785', 'score': 0.23}, {'connected_gene': 'ZFHX4', 'score': 0.1}]
chr8 GH08I076810 76810291 76811507 0.96 [{'connected_gene': 'GC08M076785', 'score': 0.34}, {'connected_gene': 'GC08P076864', 'score': 0.23}, {'connected_gene': 'ZFHX4', 'score': 0.13}]
chr8 GH08I076842 76842876 76843172 0.51 [{'connected_gene': 'GC08P076864', 'score': 0.34}, {'connected_gene': 'GC08M076785', 'score': 0.23}, {'connected_gene': 'ZFHX4', 'score': 0.1}]
chr8 GH08I076865 76865187 76865680 0.63 [{'connected_gene': 'GC08P076864', 'score': 550.77}, {'connected_gene': 'ENSG00000253416', 'score': 0.28}, {'connected_gene': 'ZFHX4', 'score': 0.09}]
chr8 GH08I076781 76781760 76782384 0.31 [{'connected_gene': 'GC08M076785', 'score': 0.44}, {'connected_gene': 'GC08M076743', 'score': 0.28}, {'connected_gene': 'ZFHX4', 'score': 0.15}]
chr8 GH08I076797 76797627 76799535 0.92 [{'connected_gene': 'GC08M076785', 'score': 0.44}, {'connected_gene': 'GC08P076864', 'score': 0.2}, {'connected_gene': 'ZFHX4', 'score': 0.13}]
chr8 GH08I076864 76864614 76865149 0.58 [{'connected_gene': 'GC08P076864', 'score': 550.77}, {'connected_gene': 'ENSG00000253416', 'score': 0.28}, {'connected_gene': 'ZFHX4', 'score': 0.09}]
chr8 GH08I076868 76865875 76866349 0.4 [{'connected_gene': 'GC08P076864', 'score': 550.77}, {'connected_gene': 'ENSG00000253416', 'score': 0.28}, {'connected_gene': 'ZFHX4', 'score': 0.09}]
chr8 GH08I076799 76799865 76802758 0.99 [{'connected_gene': 'GC08M076785', 'score': 0.39}, {'connected_gene': 'GC08P076864', 'score': 0.21}, {'connected_gene': 'ZFHX4', 'score': 0.13}]
chr8 GH08I076866 76866857 76867284 0.4 [{'connected_gene': 'GC08P076864', 'score': 0.77}, {'connected_gene': 'ENSG00000253416', 'score': 0.28}, {'connected_gene': 'ZFHX4', 'score': 0.09}]
chr8 GH08I076867 76866477 76866753 0.4 [{'connected_gene': 'GC08P076864', 'score': 550.77}, {'connected_gene': 'ENSG00000253416', 'score': 0.28}, {'connected_gene': 'ZFHX4', 'score': 0.09}]
chr8 GH08I076777 76777245 76777474 0.43 [{'connected_gene': 'GC08M076785', 'score': 0.39}, {'connected_gene': 'GC08M076743', 'score': 0.29}, {'connected_gene': 'ZFHX4', 'score': 0.15}]
chr8 GH08I076735 76735629 76736104 0.4 [{'connected_gene': 'GC08P076740', 'score': 0.77}, {'connected_gene': 'ENSG00000276673', 'score': 0.77}, {'connected_gene': 'ZFHX4', 'score': 0.23}]
chr8 GH08I076775 76775189 76776941 0.78 [{'connected_gene': 'GC08M076785', 'score': 0.39}, {'connected_gene': 'GC08M076743', 'score': 0.31}, {'connected_gene': 'ZFHX4', 'score': 0.16}]
chr8 GH08I076804 76804884 76805101 0.4 [{'connected_gene': 'GC08M076785', 'score': 0.39}, {'connected_gene': 'GC08P076864', 'score': 0.22}, {'connected_gene': 'ZFHX4', 'score': 0.13}]
chr8 GH08I076707 76707500 76707897 0.31 [{'connected_gene': 'GC08P076707', 'score': 550.77}, {'connected_gene': 'ZFHX4', 'score': 0.31}, {'connected_gene': 'ENSG00000276673', 'score': 0.31}]
chr8 GH08I076732 76732801 76733400 0.43 [{'connected_gene': 'ENSG00000276673', 'score': 550.77}, {'connected_gene': 'GC08P076707', 'score': 0.31}, {'connected_gene': 'ZFHX4', 'score': 0.23}]
chr8 GH08I076808 76808453 76808825 0.58 [{'connected_gene': 'GC08M076785', 'score': 0.37}, {'connected_gene': 'GC08P076864', 'score': 0.22}, {'connected_gene': 'ZFHX4', 'score': 0.13}]