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
ENST00000249700 [[52043757, 52043909], [52058569, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52074917, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52108565]] [[52058638, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52074917, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52100651]]
ENST00000539962 [[52043793, 52043909], [52058569, 52058764], [52059267, 52059349], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52074917, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52102328]] [[52060464, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52074917, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52100651]]
ENST00000560576 [[52043811, 52043909], [52058569, 52059267], [52075625, 52077177]] None
ENST00000435126 [[52043863, 52043909], [52058569, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52090393, 52090537], [52098573, 52098718], [52100616, 52101078]] [[52058638, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52090393, 52090537], [52098573, 52098718], [52100616, 52100651]]
ENST00000561300 [[52073245, 52073371], [52074917, 52075333]] None
ENST00000561407 [[52075018, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52100741], [52102375, 52102489]] [[52075018, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52100651]]
NM_001142885 [[52043757, 52043909], [52058569, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52090393, 52090537], [52098573, 52098718], [52100616, 52108560]] [[52058638, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52090393, 52090537], [52098573, 52098718], [52100616, 52100651]]
NM_014548 [[52043757, 52043909], [52058569, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52074917, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52108560]] [[52058638, 52058764], [52060458, 52060615], [52065908, 52066031], [52069128, 52069215], [52073240, 52073371], [52074917, 52075025], [52090393, 52090537], [52098573, 52098718], [52100616, 52100651]]
Promoter
Chrom Start End Description
chr15 52043784 52043809 CAGE_peak_1_at_TMOD2_5end
chr15 52043813 52043859 CAGE_peak_2_at_TMOD2_5end
chr15 52102855 52102868 CAGE_peak_5_at_TMOD2_5end
chr15 52102871 52102880 CAGE_peak_11_at_TMOD2_5end
chr15 52102959 52102974 CAGE_peak_3_at_TMOD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I051706 51706115 51706593 0.63 [{'connected_gene': 'SCG3', 'score': 12.05}, {'connected_gene': 'LYSMD2', 'score': 11.37}, {'connected_gene': 'TMOD2', 'score': 11.37}, {'connected_gene': 'MAPK6', 'score': 4.96}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051641 51641223 51642807 0.46 [{'connected_gene': 'SCG3', 'score': 24.12}, {'connected_gene': 'DMXL2', 'score': 20.33}, {'connected_gene': 'ENSG00000260618', 'score': 15.27}, {'connected_gene': 'TRPM7', 'score': 13.92}, {'connected_gene': 'AP4E1', 'score': 12.42}, {'connected_gene': 'LYSMD2', 'score': 11.59}, {'connected_gene': 'TMOD2', 'score': 11.59}, {'connected_gene': 'ENSG00000259712', 'score': 11.38}, {'connected_gene': 'LOC105370816', 'score': 0.39}]
chr15 GH15I051758 51758284 51760289 1.06 [{'connected_gene': 'LYSMD2', 'score': 22.89}, {'connected_gene': 'ENSG00000259712', 'score': 20.68}, {'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'FAM214A', 'score': 11.9}, {'connected_gene': 'ENSG00000259935', 'score': 11.25}, {'connected_gene': 'SCG3', 'score': 11.01}, {'connected_gene': 'AP4E1', 'score': 10.46}, {'connected_gene': 'DMXL2', 'score': 4.18}, {'connected_gene': 'ENSG00000259377', 'score': 0.44}, {'connected_gene': 'TMOD2', 'score': 0.44}, {'connected_gene': 'GC15P051815', 'score': 0.22}]
chr15 GH15I051841 51841201 51848074 1.59 [{'connected_gene': 'LYSMD2', 'score': 38.07}, {'connected_gene': 'TMOD2', 'score': 16.82}, {'connected_gene': 'TMOD3', 'score': 12.98}, {'connected_gene': 'DMXL2', 'score': 9.96}, {'connected_gene': 'MAPK6', 'score': 9.27}, {'connected_gene': 'ENSG00000259178', 'score': 6.45}, {'connected_gene': 'MYO5C', 'score': 5.75}, {'connected_gene': 'ENSG00000277677', 'score': 0.39}, {'connected_gene': 'ENSG00000274954', 'score': 0.39}]
chr15 GH15I051750 51750186 51750562 0.61 [{'connected_gene': 'LYSMD2', 'score': 601.36}, {'connected_gene': 'TMOD2', 'score': 550.77}, {'connected_gene': 'TMOD3', 'score': 6.54}, {'connected_gene': 'ENSG00000259296', 'score': 0.28}]
chr15 GH15I051771 51771641 51774182 0.2 [{'connected_gene': 'LYSMD2', 'score': 48.21}, {'connected_gene': 'TMOD2', 'score': 19.31}, {'connected_gene': 'SCG3', 'score': 11.36}, {'connected_gene': 'TMOD3', 'score': 10.29}, {'connected_gene': 'DMXL2', 'score': 6.61}, {'connected_gene': 'ENSG00000259377', 'score': 0.34}, {'connected_gene': 'GC15P051815', 'score': 0.26}]
chr15 GH15I051646 51646824 51647713 1.37 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.91}, {'connected_gene': 'TMOD3', 'score': 5.89}, {'connected_gene': 'LOC105370816', 'score': 0.44}, {'connected_gene': 'DMXL2', 'score': 0.34}]
chr15 GH15I051725 51725783 51728473 1.1 [{'connected_gene': 'LYSMD2', 'score': 12.56}, {'connected_gene': 'TMOD2', 'score': 12.56}, {'connected_gene': 'SCG3', 'score': 11.44}, {'connected_gene': 'TMOD3', 'score': 8.15}, {'connected_gene': 'ENSG00000259296', 'score': 0.39}]
chr15 GH15I051650 51650024 51650193 0.73 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.91}, {'connected_gene': 'LOC105370816', 'score': 0.44}, {'connected_gene': 'DMXL2', 'score': 0.31}]
chr15 GH15I051643 51643424 51643573 0.59 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.9}, {'connected_gene': 'LOC105370816', 'score': 0.39}, {'connected_gene': 'DMXL2', 'score': 0.34}]
chr15 GH15I051776 51776284 51776433 0.94 [{'connected_gene': 'LYSMD2', 'score': 12.1}, {'connected_gene': 'TMOD2', 'score': 12.1}, {'connected_gene': 'SCG3', 'score': 11.35}, {'connected_gene': 'ENSG00000259377', 'score': 0.34}, {'connected_gene': 'GC15P051815', 'score': 0.28}]
chr15 GH15I051722 51722130 51722277 0.2 [{'connected_gene': 'LYSMD2', 'score': 11.81}, {'connected_gene': 'TMOD2', 'score': 11.81}, {'connected_gene': 'SCG3', 'score': 11.25}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}]
chr15 GH15I051672 51672268 51672493 0.89 [{'connected_gene': 'LYSMD2', 'score': 10.97}, {'connected_gene': 'TMOD2', 'score': 10.97}, {'connected_gene': 'DMXL2', 'score': 7.54}, {'connected_gene': 'MAPK6', 'score': 4.68}, {'connected_gene': 'SCG3', 'score': 0.44}, {'connected_gene': 'LOC105370816', 'score': 0.37}]
chr15 GH15I051600 51600264 51600433 0.98 [{'connected_gene': 'LYSMD2', 'score': 10.11}, {'connected_gene': 'TMOD2', 'score': 10.11}, {'connected_gene': 'DMXL2', 'score': 0.34}, {'connected_gene': 'GC15M057426', 'score': 0.28}]
chr15 GH15I051787 51787224 51787373 0.72 [{'connected_gene': 'LYSMD2', 'score': 11.71}, {'connected_gene': 'TMOD2', 'score': 11.71}, {'connected_gene': 'GC15P051815', 'score': 0.31}, {'connected_gene': 'ENSG00000259377', 'score': 0.29}]
chr15 GH15I051777 51777064 51777253 0.94 [{'connected_gene': 'LYSMD2', 'score': 12.17}, {'connected_gene': 'TMOD2', 'score': 12.17}, {'connected_gene': 'ENSG00000259377', 'score': 0.34}, {'connected_gene': 'GC15P051815', 'score': 0.28}]
chr15 GH15I051751 51751011 51752401 2.05 [{'connected_gene': 'LYSMD2', 'score': 584.23}, {'connected_gene': 'ENSG00000259377', 'score': 550.77}, {'connected_gene': 'TMOD2', 'score': 550.77}]
chr15 GH15I051739 51739204 51739313 0.63 [{'connected_gene': 'LYSMD2', 'score': 0.39}, {'connected_gene': 'TMOD2', 'score': 0.39}, {'connected_gene': 'ENSG00000259296', 'score': 0.34}]
chr15 GH15I051796 51796207 51797508 0.84 [{'connected_gene': 'LYSMD2', 'score': 35.08}, {'connected_gene': 'GC15P051815', 'score': 0.37}, {'connected_gene': 'ENSG00000259377', 'score': 0.26}, {'connected_gene': 'TMOD2', 'score': 0.25}]
chr15 GH15I051756 51756001 51757000 0.66 [{'connected_gene': 'LYSMD2', 'score': 36.88}, {'connected_gene': 'TMOD3', 'score': 8.0}, {'connected_gene': 'ENSG00000259377', 'score': 0.77}, {'connected_gene': 'TMOD2', 'score': 0.77}, {'connected_gene': 'GC15P051815', 'score': 0.22}]
chr15 GH15I051769 51769560 51771107 0.31 [{'connected_gene': 'LYSMD2', 'score': 36.47}, {'connected_gene': 'TMOD3', 'score': 18.1}, {'connected_gene': 'SCG3', 'score': 11.26}, {'connected_gene': 'ENSG00000259377', 'score': 0.37}, {'connected_gene': 'TMOD2', 'score': 0.37}, {'connected_gene': 'GC15P051815', 'score': 0.26}]
chr15 GH15I051877 51877510 51881242 1.25 [{'connected_gene': 'LYSMD2', 'score': 38.2}, {'connected_gene': 'TMOD3', 'score': 23.79}, {'connected_gene': 'GNB5', 'score': 9.78}, {'connected_gene': 'TMOD2', 'score': 9.74}, {'connected_gene': 'GC15P051886', 'score': 0.44}, {'connected_gene': 'LOC100422490', 'score': 0.37}, {'connected_gene': 'GC15M057424', 'score': 0.34}]
chr15 GH15I051718 51718034 51721528 0.89 [{'connected_gene': 'LYSMD2', 'score': 45.16}, {'connected_gene': 'SCG3', 'score': 12.11}, {'connected_gene': 'TMOD2', 'score': 11.79}, {'connected_gene': 'TMOD3', 'score': 7.33}, {'connected_gene': 'DMXL2', 'score': 5.38}, {'connected_gene': 'ENSG00000259296', 'score': 0.77}]
chr15 GH15I051764 51764100 51767422 0.31 [{'connected_gene': 'LYSMD2', 'score': 36.5}, {'connected_gene': 'SCG3', 'score': 11.0}, {'connected_gene': 'TMOD3', 'score': 8.02}, {'connected_gene': 'ENSG00000259377', 'score': 0.39}, {'connected_gene': 'TMOD2', 'score': 0.39}, {'connected_gene': 'GC15P051815', 'score': 0.25}]
chr15 GH15I051767 51767801 51768000 0.2 [{'connected_gene': 'LYSMD2', 'score': 24.74}, {'connected_gene': 'SCG3', 'score': 11.26}, {'connected_gene': 'TMOD3', 'score': 10.28}, {'connected_gene': 'ENSG00000259377', 'score': 0.37}, {'connected_gene': 'TMOD2', 'score': 0.37}, {'connected_gene': 'GC15P051815', 'score': 0.25}]
chr15 GH15I051728 51728916 51738836 2.72 [{'connected_gene': 'LYSMD2', 'score': 587.47}, {'connected_gene': 'DMXL2', 'score': 20.12}, {'connected_gene': 'SCG3', 'score': 11.21}, {'connected_gene': 'TMOD3', 'score': 8.19}, {'connected_gene': 'MAPK6', 'score': 7.03}, {'connected_gene': 'TMOD2', 'score': 6.45}, {'connected_gene': 'ENSG00000259296', 'score': 0.37}]
chr15 GH15I051620 51620238 51624665 2.57 [{'connected_gene': 'DMXL2', 'score': 601.11}, {'connected_gene': 'SCG3', 'score': 22.54}, {'connected_gene': 'LYSMD2', 'score': 12.4}, {'connected_gene': 'TRPM7', 'score': 10.88}, {'connected_gene': 'ENSG00000260618', 'score': 10.87}, {'connected_gene': 'MAPK6', 'score': 10.19}, {'connected_gene': 'AP4E1', 'score': 10.15}, {'connected_gene': 'TMOD2', 'score': 10.09}, {'connected_gene': 'TMOD3', 'score': 4.85}, {'connected_gene': 'ENSG00000259678', 'score': 4.58}, {'connected_gene': 'LOC105370816', 'score': 0.29}, {'connected_gene': 'GC15M057426', 'score': 0.22}]
chr15 GH15I051707 51707024 51709381 0.94 [{'connected_gene': 'DMXL2', 'score': 20.3}, {'connected_gene': 'SCG3', 'score': 18.94}, {'connected_gene': 'LYSMD2', 'score': 10.65}, {'connected_gene': 'TMOD2', 'score': 10.65}, {'connected_gene': 'MAPK6', 'score': 6.55}, {'connected_gene': 'TMOD3', 'score': 4.89}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]