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
ENST00000372071 [[88414313, 88414684], [88415911, 88416057], [88416951, 88416984], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88426212]] [[88414540, 88414684], [88415911, 88416057], [88416951, 88416984], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88425508]]
ENST00000241891 [[88414373, 88414684], [88415911, 88416057], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88426212]] [[88414540, 88414684], [88415911, 88416057], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88425508]]
ENST00000443292 [[88414373, 88414684], [88415911, 88416057], [88416951, 88416984], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88426550, 88426605]] [[88414540, 88414684], [88415911, 88416057], [88416951, 88416984], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88426550, 88426605]]
NM_033282 [[88414313, 88414684], [88415911, 88416057], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88426217]] [[88414540, 88414684], [88415911, 88416057], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88425508]]
NM_001030015 [[88414313, 88414684], [88415911, 88416057], [88416951, 88416984], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88426217]] [[88414540, 88414684], [88415911, 88416057], [88416951, 88416984], [88417788, 88417922], [88418240, 88418444], [88419053, 88419225], [88419651, 88419816], [88421037, 88421145], [88422008, 88422189], [88423415, 88423559], [88425469, 88425508]]
Promoter
Chrom Start End Description
chr10 88414298 88414311 CAGE_peak_1_at_OPN4_5end
chr10 88414338 88414356 CAGE_peak_2_at_OPN4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I086634 86634846 86636324 0.38 [{'connected_gene': 'OPN4', 'score': 16.39}, {'connected_gene': 'ENSG00000272631', 'score': 6.35}, {'connected_gene': 'RPL7AP8', 'score': 0.77}, {'connected_gene': 'GC10P086656', 'score': 0.37}, {'connected_gene': 'GC10P086655', 'score': 0.37}]
chr10 GH10I086648 86648313 86650543 1 [{'connected_gene': 'OPN4', 'score': 14.03}, {'connected_gene': 'ENSG00000272631', 'score': 7.11}, {'connected_gene': 'GC10P086656', 'score': 0.44}, {'connected_gene': 'GC10P086655', 'score': 0.44}, {'connected_gene': 'RPL7AP8', 'score': 0.37}]
chr10 GH10I086654 86654498 86654557 0.76 [{'connected_gene': 'OPN4', 'score': 578.74}, {'connected_gene': 'GC10P086656', 'score': 550.77}, {'connected_gene': 'GC10P086655', 'score': 550.77}, {'connected_gene': 'RPL7AP8', 'score': 0.34}]
chr10 GH10I086597 86597402 86599227 0.43 [{'connected_gene': 'OPN4', 'score': 18.04}, {'connected_gene': 'ENSG00000272631', 'score': 6.49}, {'connected_gene': 'GC10P086567', 'score': 0.29}, {'connected_gene': 'RPL7AP8', 'score': 0.29}]
chr10 GH10I086602 86602629 86603902 0.66 [{'connected_gene': 'OPN4', 'score': 9.78}, {'connected_gene': 'RPL7AP8', 'score': 0.31}, {'connected_gene': 'GC10P086567', 'score': 0.28}]
chr10 GH10I086599 86599864 86600053 0.52 [{'connected_gene': 'OPN4', 'score': 23.21}, {'connected_gene': 'GC10P086567', 'score': 0.29}, {'connected_gene': 'RPL7AP8', 'score': 0.29}]
chr10 GH10I086644 86644425 86645551 0.73 [{'connected_gene': 'OPN4', 'score': 27.58}, {'connected_gene': 'ENSG00000272631', 'score': 7.1}, {'connected_gene': 'GC10P086656', 'score': 0.44}, {'connected_gene': 'GC10P086655', 'score': 0.44}, {'connected_gene': 'RPL7AP8', 'score': 0.39}]
chr10 GH10I086600 86600086 86600914 0.56 [{'connected_gene': 'OPN4', 'score': 9.13}, {'connected_gene': 'ENSG00000272631', 'score': 6.49}, {'connected_gene': 'GC10P086567', 'score': 0.29}, {'connected_gene': 'RPL7AP8', 'score': 0.29}]
chr10 GH10I086676 86676445 86678066 0.43 [{'connected_gene': 'OPN4', 'score': 12.0}, {'connected_gene': 'LDB3', 'score': 4.63}, {'connected_gene': 'GC10M086714', 'score': 0.28}]
chr10 GH10I086661 86661406 86662095 0.58 [{'connected_gene': 'OPN4', 'score': 9.6}, {'connected_gene': 'LOC105378409', 'score': 0.77}]
chr10 GH10I086656 86656964 86658396 0.31 [{'connected_gene': 'MMRN2', 'score': 10.21}, {'connected_gene': 'ADIRF', 'score': 10.21}, {'connected_gene': 'SNCG', 'score': 10.2}, {'connected_gene': 'OPN4', 'score': 9.52}, {'connected_gene': 'ENSG00000272631', 'score': 7.12}, {'connected_gene': 'LOC105378409', 'score': 0.44}]
chr10 GH10I087081 87081402 87085640 1.01 [{'connected_gene': 'MMRN2', 'score': 10.86}, {'connected_gene': 'ADIRF', 'score': 10.86}, {'connected_gene': 'SNCG', 'score': 10.86}, {'connected_gene': 'FAM35A', 'score': 9.83}, {'connected_gene': 'NUTM2A-AS1', 'score': 8.11}, {'connected_gene': 'OPN4', 'score': 7.78}, {'connected_gene': 'NUTM2D', 'score': 6.84}, {'connected_gene': 'GLUD1', 'score': 0.39}, {'connected_gene': 'GC10M087058', 'score': 0.34}]
chr10 GH10I086683 86683114 86689569 1.56 [{'connected_gene': 'BMPR1A', 'score': 8.09}, {'connected_gene': 'OPN4', 'score': 5.78}, {'connected_gene': 'LDB3', 'score': 0.37}, {'connected_gene': 'GC10M086714', 'score': 0.31}]
chr10 GH10I086795 86795004 86795948 0.92 [{'connected_gene': 'BMPR1A', 'score': 29.51}, {'connected_gene': 'OPN4', 'score': 6.75}, {'connected_gene': 'GC10M086786', 'score': 0.44}, {'connected_gene': 'RPAP2P1', 'score': 0.21}]
chr10 GH10I087107 87107092 87107471 0.26 [{'connected_gene': 'FAM35A', 'score': 11.25}, {'connected_gene': 'NUTM2A-AS1', 'score': 10.86}, {'connected_gene': 'OPN4', 'score': 7.62}, {'connected_gene': 'ENSG00000237280', 'score': 0.44}, {'connected_gene': 'GLUD1', 'score': 0.39}]
chr10 GH10I087090 87090809 87096982 2.31 [{'connected_gene': 'FAM35A', 'score': 570.9}, {'connected_gene': 'GLUD1', 'score': 550.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 36.57}, {'connected_gene': 'ENSG00000272631', 'score': 34.41}, {'connected_gene': 'WAPL', 'score': 24.98}, {'connected_gene': 'BMPR1A', 'score': 22.65}, {'connected_gene': 'CFL1P1', 'score': 20.56}, {'connected_gene': 'RPL11P3', 'score': 11.19}, {'connected_gene': 'ENSG00000227896', 'score': 10.93}, {'connected_gene': 'BMS1P3', 'score': 10.43}, {'connected_gene': 'ADIRF-AS1', 'score': 9.84}, {'connected_gene': 'OPN4', 'score': 7.62}, {'connected_gene': 'NUTM2A', 'score': 7.49}, {'connected_gene': 'GC10M087058', 'score': 0.29}]
chr10 GH10I086631 86631869 86632779 0.89 [{'connected_gene': 'RPL7AP8', 'score': 550.77}, {'connected_gene': 'OPN4', 'score': 27.02}, {'connected_gene': 'GC10P086656', 'score': 0.34}, {'connected_gene': 'GC10P086655', 'score': 0.34}]
chr10 GH10I086630 86630174 86630698 0.2 [{'connected_gene': 'RPL7AP8', 'score': 550.77}, {'connected_gene': 'OPN4', 'score': 26.63}, {'connected_gene': 'GC10P086567', 'score': 0.21}]
chr10 GH10I086389 86389201 86390713 0.87 [{'connected_gene': 'WAPL', 'score': 5.51}, {'connected_gene': 'OPN4', 'score': 4.43}, {'connected_gene': 'LDB3', 'score': 4.28}, {'connected_gene': 'GC10M086380', 'score': 0.44}, {'connected_gene': 'GC10P086443', 'score': 0.23}]
chr10 GH10I086662 86662842 86676184 1.79 [{'connected_gene': 'LDB3', 'score': 565.18}, {'connected_gene': 'OPN4', 'score': 30.01}, {'connected_gene': 'ENSG00000272631', 'score': 7.2}, {'connected_gene': 'LOC105378409', 'score': 0.77}, {'connected_gene': 'GC10M086714', 'score': 0.25}]
chr10 GH10I086414 86414757 86416222 0.66 [{'connected_gene': 'LDB3', 'score': 7.18}, {'connected_gene': 'OPN4', 'score': 5.96}, {'connected_gene': 'GC10P086443', 'score': 0.31}, {'connected_gene': 'GC10M086380', 'score': 0.29}]
chr10 GH10I086680 86680644 86681866 0.58 [{'connected_gene': 'LDB3', 'score': 15.22}, {'connected_gene': 'OPN4', 'score': 11.6}, {'connected_gene': 'ENSG00000272631', 'score': 7.24}, {'connected_gene': 'GC10M086714', 'score': 0.29}]
chr10 GH10I086693 86693347 86694664 0.84 [{'connected_gene': 'LDB3', 'score': 12.97}, {'connected_gene': 'OPN4', 'score': 11.78}, {'connected_gene': 'GC10M086714', 'score': 0.34}]
chr10 GH10I086436 86436572 86443907 1.34 [{'connected_gene': 'RNU6-780P', 'score': 11.72}, {'connected_gene': 'ENSG00000227896', 'score': 11.46}, {'connected_gene': 'WAPL', 'score': 11.46}, {'connected_gene': 'LDB3', 'score': 6.39}, {'connected_gene': 'OPN4', 'score': 5.53}, {'connected_gene': 'BMPR1A', 'score': 4.71}, {'connected_gene': 'GC10P086443', 'score': 0.77}, {'connected_gene': 'GC10M086380', 'score': 0.22}]
chr10 GH10I086399 86399444 86403362 1.75 [{'connected_gene': 'ENSG00000227896', 'score': 19.6}, {'connected_gene': 'ENSG00000272631', 'score': 18.35}, {'connected_gene': 'GRID1', 'score': 17.14}, {'connected_gene': 'WAPL', 'score': 4.49}, {'connected_gene': 'LDB3', 'score': 4.18}, {'connected_gene': 'OPN4', 'score': 2.69}, {'connected_gene': 'GC10M086380', 'score': 0.34}, {'connected_gene': 'GC10P086443', 'score': 0.26}]
chr10 GH10I086585 86585123 86585870 1.04 [{'connected_gene': 'ENSG00000227896', 'score': 11.18}, {'connected_gene': 'WAPL', 'score': 11.18}, {'connected_gene': 'RNU6-780P', 'score': 10.99}, {'connected_gene': 'MIR346', 'score': 9.29}, {'connected_gene': 'OPN4', 'score': 6.3}, {'connected_gene': 'GC10P086567', 'score': 0.37}, {'connected_gene': 'RPL7AP8', 'score': 0.25}]
chr10 GH10I086309 86309579 86320829 0.75 [{'connected_gene': 'ENSG00000227896', 'score': 16.61}, {'connected_gene': 'ADIRF-AS1', 'score': 12.22}, {'connected_gene': 'GRID1', 'score': 11.92}, {'connected_gene': 'MIR346', 'score': 11.5}, {'connected_gene': 'WAPL', 'score': 11.36}, {'connected_gene': 'MMRN2', 'score': 5.39}, {'connected_gene': 'LDB3', 'score': 4.84}, {'connected_gene': 'OPN4', 'score': 4.44}]