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
ENST00000299642 [[78056411, 78056638], [78062003, 78062087], [78064343, 78066003]] [[78056496, 78056638], [78062003, 78062087], [78064343, 78064738]]
ENST00000567430 [[78056411, 78056638], [78085854, 78086046], [78099873, 78100658]] [[78056496, 78056638], [78085854, 78085865]]
ENST00000575655 [[78056442, 78056638], [78062003, 78062087], [78064343, 78065994]] [[78056523, 78056638], [78062003, 78062087], [78064343, 78064738]]
ENST00000565808 [[78062985, 78063044], [78064343, 78064848]] None
NM_005752 [[78056442, 78056638], [78062003, 78062087], [78064343, 78066003]] [[78056496, 78056638], [78062003, 78062087], [78064343, 78064738]]
NM_001244755 [[78062985, 78063044], [78064343, 78066003]] [[78063001, 78063044], [78064343, 78064738]]
Promoter
Chrom Start End Description
chr16 78056435 78056451 CAGE_peak_1_at_CLEC3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I077832 77832783 77835762 0.88 [{'connected_gene': 'VAT1L', 'score': 11.38}, {'connected_gene': 'CLEC3A', 'score': 9.53}, {'connected_gene': 'ENSG00000278926', 'score': 0.29}, {'connected_gene': 'PPIAP50', 'score': 0.22}]
chr16 GH16I078046 78046044 78046173 0.93 [{'connected_gene': 'WWOX', 'score': 10.85}, {'connected_gene': 'KRT8P22', 'score': 0.77}, {'connected_gene': 'ENSG00000261540', 'score': 0.39}, {'connected_gene': 'CLEC3A', 'score': 0.34}]
chr16 GH16I078098 78098644 78100726 2.1 [{'connected_gene': 'WWOX', 'score': 555.51}, {'connected_gene': 'CLEC3A', 'score': 17.82}, {'connected_gene': 'ENSG00000261707', 'score': 10.77}, {'connected_gene': 'GC16M078111', 'score': 0.39}]
chr16 GH16I078072 78072504 78072653 0.64 [{'connected_gene': 'WWOX', 'score': 11.94}, {'connected_gene': 'CLEC3A', 'score': 5.34}, {'connected_gene': 'ENSG00000261540', 'score': 0.39}]
chr16 GH16I078065 78065701 78065713 0.22 [{'connected_gene': 'WWOX', 'score': 10.69}, {'connected_gene': 'ENSG00000261540', 'score': 0.44}, {'connected_gene': 'CLEC3A', 'score': 0.26}]
chr16 GH16I078051 78051124 78051213 0.59 [{'connected_gene': 'KRT8P22', 'score': 550.77}, {'connected_gene': 'CLEC3A', 'score': 11.26}, {'connected_gene': 'WWOX', 'score': 10.36}, {'connected_gene': 'LOC100131126', 'score': 0.44}, {'connected_gene': 'ENSG00000261540', 'score': 0.44}]
chr16 GH16I077970 77970953 77972282 0.66 [{'connected_gene': 'NUDT7', 'score': 10.96}, {'connected_gene': 'VAT1L', 'score': 10.49}, {'connected_gene': 'WWOX', 'score': 9.83}, {'connected_gene': 'LOC105371351', 'score': 0.34}, {'connected_gene': 'CLEC3A', 'score': 0.23}]
chr16 GH16I077951 77951904 77952053 0.52 [{'connected_gene': 'NUDT7', 'score': 10.53}, {'connected_gene': 'VAT1L', 'score': 10.1}, {'connected_gene': 'LOC105371351', 'score': 0.77}, {'connected_gene': 'CLEC3A', 'score': 0.19}]
chr16 GH16I077676 77675844 77676013 0.76 [{'connected_gene': 'NUDT7', 'score': 16.31}, {'connected_gene': 'VAT1L', 'score': 10.53}, {'connected_gene': 'CLEC3A', 'score': 10.37}, {'connected_gene': 'WWOX', 'score': 9.88}, {'connected_gene': 'ENSG00000278862', 'score': 0.37}]
chr16 GH16I077675 77675061 77675278 0.44 [{'connected_gene': 'NUDT7', 'score': 11.54}, {'connected_gene': 'VAT1L', 'score': 10.53}, {'connected_gene': 'CLEC3A', 'score': 10.37}, {'connected_gene': 'WWOX', 'score': 9.88}, {'connected_gene': 'ENSG00000278862', 'score': 0.37}]
chr16 GH16I077677 77677224 77677373 0.46 [{'connected_gene': 'NUDT7', 'score': 16.98}, {'connected_gene': 'VAT1L', 'score': 10.53}, {'connected_gene': 'CLEC3A', 'score': 10.37}, {'connected_gene': 'WWOX', 'score': 9.88}, {'connected_gene': 'ENSG00000278862', 'score': 0.34}]
chr16 GH16I077544 77544360 77556921 0.59 [{'connected_gene': 'ADAMTS18', 'score': 10.91}, {'connected_gene': 'CLEC3A', 'score': 4.89}, {'connected_gene': 'SYCE1L', 'score': 4.48}, {'connected_gene': 'LOC105376775', 'score': 0.29}, {'connected_gene': 'LINC02131', 'score': 0.26}]
chr16 GH16I077990 77990732 77995373 0.77 [{'connected_gene': 'CLEC3A', 'score': 23.16}, {'connected_gene': 'VAT1L', 'score': 10.34}, {'connected_gene': 'WWOX', 'score': 4.57}, {'connected_gene': 'LOC105371351', 'score': 0.26}]
chr16 GH16I077987 77987432 77988379 0.31 [{'connected_gene': 'CLEC3A', 'score': 17.11}, {'connected_gene': 'VAT1L', 'score': 10.34}, {'connected_gene': 'LOC105371351', 'score': 0.28}]
chr16 GH16I077966 77965739 77969136 0.49 [{'connected_gene': 'CLEC3A', 'score': 19.5}, {'connected_gene': 'WWOX', 'score': 14.86}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'VAT1L', 'score': 10.5}, {'connected_gene': 'LOC105371351', 'score': 0.37}]
chr16 GH16I078002 78002801 78003600 1.03 [{'connected_gene': 'CLEC3A', 'score': 13.53}, {'connected_gene': 'WWOX', 'score': 5.22}, {'connected_gene': 'LOC105371351', 'score': 0.23}]
chr16 GH16I078022 78022499 78022558 0.5 [{'connected_gene': 'CLEC3A', 'score': 550.77}, {'connected_gene': 'KRT8P22', 'score': 0.31}, {'connected_gene': 'ENSG00000261540', 'score': 0.28}]
chr16 GH16I077961 77961011 77964636 0.65 [{'connected_gene': 'CLEC3A', 'score': 15.95}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'VAT1L', 'score': 10.25}, {'connected_gene': 'WWOX', 'score': 5.41}, {'connected_gene': 'LOC105371351', 'score': 0.39}]
chr16 GH16I077965 77965239 77965732 0.31 [{'connected_gene': 'CLEC3A', 'score': 16.0}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'VAT1L', 'score': 10.25}, {'connected_gene': 'LOC105371351', 'score': 0.37}]
chr16 GH16I078007 78007264 78007393 0.49 [{'connected_gene': 'CLEC3A', 'score': 0.37}, {'connected_gene': 'LOC105371351', 'score': 0.22}]
chr16 GH16I077657 77657104 77657253 0.74 [{'connected_gene': 'ENSG00000278862', 'score': 550.77}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'CLEC3A', 'score': 10.54}]