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
ENST00000394396 [[122680087, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683953], [122684918, 122685027], [122685361, 122685449]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
ENST00000461198 [[122680087, 122681629], [122682692, 122683047], [122683881, 122683953], [122684918, 122685027], [122685971, 122686282]] None
ENST00000337677 [[122680087, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683953], [122684918, 122685027], [122685971, 122686340]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
ENST00000394394 [[122680518, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683953], [122684918, 122685027], [122686342, 122686582]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
ENST00000513254 [[122681403, 122681629], [122682692, 122683047], [122683881, 122683953], [122684918, 122685027], [122686342, 122686582]] None
ENST00000514885 [[122682692, 122682850], [122682984, 122683047], [122683881, 122683950], [122684918, 122685027], [122686342, 122686516]] [[122682692, 122682850], [122682984, 122683038]]
ENST00000505198 [[122682710, 122683047], [122683881, 122683953], [122684918, 122685027], [122685860, 122685915]] None
ENST00000506551 [[122683776, 122683953], [122684918, 122685027], [122685285, 122685462]] None
NM_001317839 [[122680087, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683953], [122684918, 122685027], [122685361, 122685449]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
NM_001317841 [[122680087, 122681629], [122682692, 122683047], [122683881, 122683953], [122684918, 122685027], [122685971, 122686340]] [[122681448, 122681629], [122682692, 122682826]]
NM_152399 [[122680087, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683953], [122684918, 122685027], [122685971, 122686340]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
NM_001317842 [[122680087, 122681629], [122682692, 122683047], [122683881, 122683953], [122684918, 122685027], [122686342, 122686555]] [[122681448, 122681629], [122682692, 122682826]]
NM_001317837 [[122680087, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683953], [122684918, 122685027], [122686342, 122686555]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
NM_001317838 [[122680087, 122681629], [122682692, 122682850], [122682984, 122683047], [122683881, 122683950], [122684918, 122685027], [122686342, 122686555]] [[122681448, 122681629], [122682692, 122682850], [122682984, 122683038]]
Promoter
Chrom Start End Description
chr4 122686261 122686324 CAGE_peak_1_at_TMEM155_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I121779 121779076 121779969 0.63 [{'connected_gene': 'BBS7', 'score': 11.25}, {'connected_gene': 'TMEM155', 'score': 9.92}, {'connected_gene': 'EXOSC9', 'score': 9.49}]
chr4 GH04I121798 121798985 121802532 2.06 [{'connected_gene': 'EXOSC9', 'score': 570.14}, {'connected_gene': 'BBS7', 'score': 12.57}, {'connected_gene': 'TMEM155', 'score': 11.22}, {'connected_gene': 'PP12613', 'score': 11.2}, {'connected_gene': 'ENSG00000237868', 'score': 9.69}]
chr4 GH04I121782 121782523 121782541 0.22 [{'connected_gene': 'EXOSC9', 'score': 0.37}, {'connected_gene': 'TMEM155', 'score': 0.37}]
chr4 GH04I121727 121727260 121729521 0.92 [{'connected_gene': 'ANXA5', 'score': 25.2}, {'connected_gene': 'PP12613', 'score': 11.41}, {'connected_gene': 'TMEM155', 'score': 11.41}, {'connected_gene': 'QRFPR', 'score': 9.93}]
chr4 GH04I121674 121674873 121678224 1.03 [{'connected_gene': 'ANXA5', 'score': 42.69}, {'connected_gene': 'PP12613', 'score': 10.19}, {'connected_gene': 'TMEM155', 'score': 10.19}, {'connected_gene': 'ENSG00000237868', 'score': 4.83}, {'connected_gene': 'GC04M121669', 'score': 0.44}, {'connected_gene': 'GC04M121668', 'score': 0.44}]
chr4 GH04I121710 121710261 121713088 1.38 [{'connected_gene': 'ANXA5', 'score': 12.86}, {'connected_gene': 'PP12613', 'score': 10.84}, {'connected_gene': 'TMEM155', 'score': 10.84}]
chr4 GH04I121726 121726601 121727218 0.97 [{'connected_gene': 'ANXA5', 'score': 25.24}, {'connected_gene': 'PP12613', 'score': 11.19}, {'connected_gene': 'TMEM155', 'score': 11.19}]
chr4 GH04I121717 121717266 121718815 0.69 [{'connected_gene': 'ANXA5', 'score': 12.81}, {'connected_gene': 'PP12613', 'score': 11.39}, {'connected_gene': 'TMEM155', 'score': 11.39}]
chr4 GH04I121788 121788921 121792217 1.15 [{'connected_gene': 'TMEM155', 'score': 24.1}, {'connected_gene': 'PP12613', 'score': 11.96}, {'connected_gene': 'CCNA2', 'score': 11.51}, {'connected_gene': 'BBS7', 'score': 11.38}, {'connected_gene': 'EXOSC9', 'score': 6.22}]
chr4 GH04I121794 121794559 121797022 1.15 [{'connected_gene': 'TMEM155', 'score': 11.68}, {'connected_gene': 'PP12613', 'score': 11.67}, {'connected_gene': 'CCNA2', 'score': 11.53}, {'connected_gene': 'BBS7', 'score': 11.43}, {'connected_gene': 'EXOSC9', 'score': 6.45}]
chr4 GH04I121783 121783353 121786954 1.07 [{'connected_gene': 'TMEM155', 'score': 12.48}, {'connected_gene': 'PP12613', 'score': 11.9}, {'connected_gene': 'BBS7', 'score': 11.28}, {'connected_gene': 'EXOSC9', 'score': 9.13}]
chr4 GH04I121766 121765000 121765201 0.9 [{'connected_gene': 'PP12613', 'score': 550.77}, {'connected_gene': 'TMEM155', 'score': 550.77}, {'connected_gene': 'EXOSC9', 'score': 4.87}]
chr4 GH04I121763 121763960 121764019 0.61 [{'connected_gene': 'PP12613', 'score': 550.77}, {'connected_gene': 'TMEM155', 'score': 550.77}, {'connected_gene': 'ANXA5', 'score': 0.2}]
chr4 GH04I121765 121765265 121765324 0.87 [{'connected_gene': 'PP12613', 'score': 550.77}, {'connected_gene': 'TMEM155', 'score': 550.77}]
chr4 GH04I121667 121667534 121671044 0.66 [{'connected_gene': 'GC04M121669', 'score': 550.77}, {'connected_gene': 'GC04M121668', 'score': 550.77}, {'connected_gene': 'ANXA5', 'score': 40.34}, {'connected_gene': 'PP12613', 'score': 10.51}, {'connected_gene': 'TMEM155', 'score': 10.51}, {'connected_gene': 'ENSG00000237868', 'score': 4.81}]

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