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
ENST00000307637 [[8210897, 8212791], [8218873, 8219067]] [[8211332, 8212781]]
ENST00000546241 [[8212341, 8212791], [8218816, 8218933]] [[8212341, 8212781]]
NM_001326477 [[8209439, 8212791], [8218816, 8219067]] [[8211332, 8212781]]
NM_004054 [[8209439, 8212791], [8218873, 8219067]] [[8211332, 8212781]]
NM_001326475 [[8209439, 8212788], [8218873, 8219067]] [[8211332, 8212781]]
Promoter
Chrom Start End Description
chr12 8218926 8218980 CAGE_peak_1_at_C3AR1_5end
chr12 8218997 8219025 CAGE_peak_2_at_C3AR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I007966 7966685 7966909 0.64 [{'connected_gene': 'CLEC6A', 'score': 4.87}, {'connected_gene': 'SLC2A3', 'score': 3.2}, {'connected_gene': 'C3AR1', 'score': 2.47}, {'connected_gene': 'CLEC4A', 'score': 1.58}, {'connected_gene': 'GC12P007976', 'score': 0.44}]
chr12 GH12I008047 8047362 8055955 0.59 [{'connected_gene': 'C3AR1', 'score': 72.21}, {'connected_gene': 'FOXJ2', 'score': 0.37}]
chr12 GH12I008057 8057477 8059000 0.99 [{'connected_gene': 'C3AR1', 'score': 73.02}, {'connected_gene': 'FOXJ2', 'score': 12.48}]
chr12 GH12I008046 8046105 8046274 0.65 [{'connected_gene': 'C3AR1', 'score': 13.14}, {'connected_gene': 'FOXJ2', 'score': 0.39}]
chr12 GH12I008063 8063401 8067265 1.77 [{'connected_gene': 'C3AR1', 'score': 562.0}, {'connected_gene': 'NECAP1', 'score': 9.9}, {'connected_gene': 'FOXJ2', 'score': 0.29}]
chr12 GH12I008036 8036645 8039400 1.25 [{'connected_gene': 'C3AR1', 'score': 14.24}, {'connected_gene': 'NECAP1', 'score': 8.3}, {'connected_gene': 'PHC1', 'score': 5.16}, {'connected_gene': 'FOXJ2', 'score': 0.44}]
chr12 GH12I007969 7969001 7973399 1.74 [{'connected_gene': 'SLC2A3', 'score': 21.17}, {'connected_gene': 'NECAP1', 'score': 11.03}, {'connected_gene': 'CLEC4A', 'score': 6.11}, {'connected_gene': 'FOXJ2', 'score': 4.35}, {'connected_gene': 'CLEC6A', 'score': 1.93}, {'connected_gene': 'C3AR1', 'score': 1.82}, {'connected_gene': 'GC12P007976', 'score': 0.44}]
chr12 GH12I008031 8031757 8036322 2.15 [{'connected_gene': 'FOXJ2', 'score': 550.77}, {'connected_gene': 'C3AR1', 'score': 13.02}, {'connected_gene': 'POU5F1P3', 'score': 11.19}, {'connected_gene': 'M6PR', 'score': 10.98}, {'connected_gene': 'ENSG00000256967', 'score': 10.03}, {'connected_gene': 'NECAP1', 'score': 5.18}]
chr12 GH12I008070 8070201 8071200 0.58 [{'connected_gene': 'FOXJ2', 'score': 12.42}, {'connected_gene': 'C3AR1', 'score': 11.78}, {'connected_gene': 'DPPA3', 'score': 9.31}, {'connected_gene': 'NECAP1', 'score': 0.44}]
chr12 GH12I008155 8155151 8155325 0.22 [{'connected_gene': 'ZNF705A', 'score': 550.77}, {'connected_gene': 'CLEC4A', 'score': 15.33}, {'connected_gene': 'CLEC4E', 'score': 12.25}, {'connected_gene': 'C3AR1', 'score': 10.51}, {'connected_gene': 'CLEC6A', 'score': 9.04}, {'connected_gene': 'NECAP1', 'score': 1.88}, {'connected_gene': 'CLEC4D', 'score': 1.51}, {'connected_gene': 'GCSHP4', 'score': 0.39}, {'connected_gene': 'ENSG00000284393', 'score': 0.37}]
chr12 GH12I008492 8492401 8493874 1.08 [{'connected_gene': 'CLEC4E', 'score': 24.6}, {'connected_gene': 'CLEC4D', 'score': 24.33}, {'connected_gene': 'CLEC6A', 'score': 14.28}, {'connected_gene': 'CLEC4A', 'score': 7.88}, {'connected_gene': 'LINC00937', 'score': 6.98}, {'connected_gene': 'NECAP1', 'score': 6.88}, {'connected_gene': 'KLRG1', 'score': 5.28}, {'connected_gene': 'C3AR1', 'score': 3.02}, {'connected_gene': 'M6PR', 'score': 1.97}, {'connected_gene': 'FOXJ2', 'score': 1.57}, {'connected_gene': 'GC12P008489', 'score': 0.77}]
chr12 GH12I008087 8087334 8089427 0.99 [{'connected_gene': 'NECAP1', 'score': 12.82}, {'connected_gene': 'C3AR1', 'score': 11.44}, {'connected_gene': 'CLEC4A', 'score': 11.34}, {'connected_gene': 'FOXJ2', 'score': 10.97}, {'connected_gene': 'GC12P008091', 'score': 0.77}, {'connected_gene': 'ENSG00000284697', 'score': 0.44}]
chr12 GH12I007584 7584236 7584562 0.98 [{'connected_gene': 'ATN1', 'score': 11.08}, {'connected_gene': 'C3AR1', 'score': 5.5}, {'connected_gene': 'PEX5', 'score': 3.53}, {'connected_gene': 'SLC2A3', 'score': 2.55}, {'connected_gene': 'NECAP1', 'score': 1.55}, {'connected_gene': 'GC12M007578', 'score': 0.77}, {'connected_gene': 'GC12P007591', 'score': 0.44}]