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
ENST00000283122 [[89688077, 89689924], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705603]] [[89689880, 89689924], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
ENST00000522083 [[89689526, 89689924], [89692309, 89692381], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705574]] [[89689880, 89689924], [89692309, 89692381], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
ENST00000522864 [[89689675, 89689924], [89692309, 89692381], [89695288, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705549]] [[89689880, 89689924], [89692309, 89692381], [89695288, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
ENST00000518458 [[89689749, 89689924], [89695174, 89695366], [89701505, 89701616], [89703515, 89703647]] [[89695363, 89695366], [89701505, 89701616], [89703515, 89703647]]
ENST00000522565 [[89694863, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705574]] [[89695163, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
ENST00000522842 [[89701210, 89701616], [89703515, 89703651], [89705461, 89705583]] [[89701433, 89701616], [89703515, 89703651], [89705461, 89705478]]
NM_001297765 [[89689151, 89689924], [89692309, 89692381], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705603]] [[89689880, 89689924], [89692309, 89692381], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
NM_004365 [[89689151, 89689924], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705603]] [[89689880, 89689924], [89695174, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
NM_001297768 [[89689151, 89689924], [89692309, 89692381], [89695288, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705603]] [[89689880, 89689924], [89692309, 89692381], [89695288, 89695366], [89701501, 89701616], [89703515, 89703651], [89705461, 89705478]]
Promoter
Chrom Start End Description
chr5 89705506 89705511 CAGE_peak_3_at_CETN3_5end
chr5 89705520 89705521 CAGE_peak_2_at_CETN3_5end
chr5 89705537 89705610 CAGE_peak_1_at_CETN3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I090439 90439552 90440600 0.97 [{'connected_gene': 'ADGRV1', 'score': 11.76}, {'connected_gene': 'LYSMD3', 'score': 11.76}, {'connected_gene': 'POLR3G', 'score': 11.55}, {'connected_gene': 'MBLAC2', 'score': 11.24}, {'connected_gene': 'LOC731157', 'score': 10.79}, {'connected_gene': 'CETN3', 'score': 10.79}]
chr5 GH05I090408 90408054 90411200 2.09 [{'connected_gene': 'LOC731157', 'score': 550.77}, {'connected_gene': 'CETN3', 'score': 550.77}, {'connected_gene': 'ENSG00000260871', 'score': 0.34}]
chr5 GH05I091376 91376691 91385173 2.62 [{'connected_gene': 'ARRDC3', 'score': 556.65}, {'connected_gene': 'ARRDC3-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000241059', 'score': 16.41}, {'connected_gene': 'CETN3', 'score': 12.54}, {'connected_gene': 'RPS18P7', 'score': 12.31}, {'connected_gene': 'ENSG00000260871', 'score': 10.39}, {'connected_gene': 'LYSMD3', 'score': 4.55}]
chr5 GH05I090020 90020567 90022350 1.09 [{'connected_gene': 'MBLAC2', 'score': 11.18}, {'connected_gene': 'ENSG00000260871', 'score': 10.86}, {'connected_gene': 'LYSMD3', 'score': 10.52}, {'connected_gene': 'CETN3', 'score': 9.68}, {'connected_gene': 'MIR3660', 'score': 0.77}, {'connected_gene': 'GC05M090101', 'score': 0.18}]
chr5 GH05I090407 90407001 90407200 0.54 [{'connected_gene': 'CETN3', 'score': 0.77}, {'connected_gene': 'ENSG00000260871', 'score': 0.37}]