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
ENST00000468063 [[95537177, 95537822], [95538561, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542568]] None
ENST00000295201 [[95537187, 95537822], [95539264, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542574]] [[95537324, 95537822], [95539264, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542514]]
ENST00000427593 [[95537252, 95537822], [95538561, 95539126]] [[95537324, 95537822], [95538561, 95538741]]
NM_144705 [[95537177, 95537822], [95539264, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542574]] [[95537324, 95537822], [95539264, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542514]]
NM_001286559 [[95537177, 95537822], [95538561, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542574]] [[95539312, 95539335], [95539709, 95539853], [95540520, 95540743], [95541332, 95541487], [95542297, 95542514]]
Promoter
Chrom Start End Description
chr2 95537170 95537188 CAGE_peak_1_at_TEKT4_5end
chr2 95537248 95537259 CAGE_peak_2_at_TEKT4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I095115 95115456 95115585 0.8 [{'connected_gene': 'TEKT4', 'score': 4.32}, {'connected_gene': 'MRPS5', 'score': 0.29}, {'connected_gene': 'LOC105373488', 'score': 0.26}]
chr2 GH02I095073 95073397 95077787 1.29 [{'connected_gene': 'LOC105373488', 'score': 550.77}, {'connected_gene': 'KCNIP3', 'score': 23.88}, {'connected_gene': 'ENSG00000231062', 'score': 11.79}, {'connected_gene': 'TEKT4', 'score': 4.52}, {'connected_gene': 'MRPS5', 'score': 0.19}]
chr2 GH02I094871 94871459 94871518 0.68 [{'connected_gene': 'GC02M094907', 'score': 550.77}, {'connected_gene': 'TEKT4', 'score': 550.77}, {'connected_gene': 'PIR62504', 'score': 550.77}, {'connected_gene': 'PIR50745', 'score': 550.77}, {'connected_gene': 'PIR46911', 'score': 550.77}, {'connected_gene': 'CYP4F32P', 'score': 28.88}, {'connected_gene': 'LOC442028', 'score': 0.18}]

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