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
ENST00000468383 [[139024202, 139024252], [139030246, 139030541]] None
ENST00000481123 [[139025195, 139025365], [139030246, 139030536]] None
ENST00000482181 [[139025236, 139025345], [139030246, 139030523]] None
ENST00000488886 [[139025322, 139025365], [139029642, 139029736], [139030246, 139030541]] None
ENST00000297534 [[139025877, 139026268], [139030246, 139031065]] [[139026130, 139026268], [139030246, 139030450]]
NR_073060 [[139025195, 139025345], [139030246, 139031065]] None
NR_073059 [[139025195, 139025365], [139030246, 139031065]] None
NR_073058 [[139025195, 139025365], [139029642, 139029736], [139030246, 139031065]] None
NM_197964 [[139025877, 139026268], [139030246, 139031065]] [[139026130, 139026268], [139030246, 139030450]]
Promoter
Chrom Start End Description
chr7 139025180 139025200 CAGE_peak_3_at_C7orf55_5end
chr7 139025204 139025245 CAGE_peak_1_at_C7orf55_5end
chr7 139025875 139025904 CAGE_peak_2_at_C7orf55_5end,CAGE_peak_6_at_LUC7L2_5end
chr7 139025909 139025927 CAGE_peak_4_at_C7orf55_5end,CAGE_peak_7_at_LUC7L2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I139339 139339352 139343216 2.36 [{'connected_gene': 'LUC7L2', 'score': 607.99}, {'connected_gene': 'GC07P139357', 'score': 550.77}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 550.77}, {'connected_gene': 'FMC1', 'score': 550.77}, {'connected_gene': 'TRR-CCT4-1', 'score': 550.77}, {'connected_gene': 'GC07P139356', 'score': 550.77}, {'connected_gene': 'UBN2', 'score': 43.88}, {'connected_gene': 'ENSG00000273391', 'score': 19.77}, {'connected_gene': 'KLRG2', 'score': 14.19}, {'connected_gene': 'TTC26', 'score': 9.98}, {'connected_gene': 'LOC100499191', 'score': 9.93}]
chr7 GH07I139375 139374321 139374536 0.4 [{'connected_gene': 'FMC1', 'score': 11.6}, {'connected_gene': 'LUC7L2', 'score': 11.6}, {'connected_gene': 'GC07P139363', 'score': 0.39}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.29}, {'connected_gene': 'LOC100129148', 'score': 0.23}]
chr7 GH07I139374 139374718 139375421 0.2 [{'connected_gene': 'ENSG00000273391', 'score': 19.77}, {'connected_gene': 'LUC7L2', 'score': 11.6}, {'connected_gene': 'FMC1', 'score': 11.59}, {'connected_gene': 'GC07P139363', 'score': 0.39}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.29}, {'connected_gene': 'LOC100129148', 'score': 0.23}]
chr7 GH07I139394 139394615 139394744 0.38 [{'connected_gene': 'ENSG00000273391', 'score': 20.04}, {'connected_gene': 'LUC7L2', 'score': 10.69}, {'connected_gene': 'FMC1', 'score': 10.68}, {'connected_gene': 'LOC100129148', 'score': 0.29}, {'connected_gene': 'GC07P139363', 'score': 0.29}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.23}]
chr7 GH07I139369 139369185 139371591 0.52 [{'connected_gene': 'ENSG00000273391', 'score': 19.8}, {'connected_gene': 'FMC1', 'score': 12.0}, {'connected_gene': 'LUC7L2', 'score': 12.0}, {'connected_gene': 'GC07P139363', 'score': 0.44}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.31}, {'connected_gene': 'LOC100129148', 'score': 0.22}]
chr7 GH07I139372 139372236 139374170 0.31 [{'connected_gene': 'ENSG00000273391', 'score': 19.56}, {'connected_gene': 'FMC1', 'score': 11.6}, {'connected_gene': 'LUC7L2', 'score': 11.6}, {'connected_gene': 'GC07P139363', 'score': 0.39}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.29}, {'connected_gene': 'LOC100129148', 'score': 0.23}]
chr7 GH07I139367 139367367 139368075 0.59 [{'connected_gene': 'ENSG00000273391', 'score': 19.84}, {'connected_gene': 'FMC1', 'score': 12.02}, {'connected_gene': 'LUC7L2', 'score': 12.02}, {'connected_gene': 'GC07P139363', 'score': 0.77}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.31}, {'connected_gene': 'LOC100129148', 'score': 0.22}]
chr7 GH07I139403 139403153 139403998 0.38 [{'connected_gene': 'ENSG00000273391', 'score': 20.17}, {'connected_gene': 'FMC1', 'score': 11.12}, {'connected_gene': 'LUC7L2', 'score': 11.12}, {'connected_gene': 'LOC100129148', 'score': 0.34}, {'connected_gene': 'GC07P139363', 'score': 0.26}, {'connected_gene': 'C7orf55-LUC7L2', 'score': 0.21}]