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
ENST00000360096 [[57371508, 57371675], [57377350, 57377513], [57384843, 57385019], [57389862, 57390614]] [[57377497, 57377513], [57384843, 57385019], [57389862, 57390042]]
NM_206919 [[57371374, 57371675], [57377350, 57377513], [57384843, 57385019], [57389862, 57390058]] [[57377497, 57377513], [57384843, 57385019], [57389862, 57390042]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I056465 56465006 56469294 2.23 [{'connected_gene': 'SRP72', 'score': 596.62}, {'connected_gene': 'GC04M056462', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 13.2}, {'connected_gene': 'PPAT', 'score': 11.91}, {'connected_gene': 'PAICS', 'score': 11.91}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'ARL9', 'score': 8.07}]
chr4 GH04I056544 56544175 56545414 1.21 [{'connected_gene': 'SPINK2', 'score': 10.84}, {'connected_gene': 'ENSG00000251799', 'score': 10.84}, {'connected_gene': 'AASDH', 'score': 10.1}, {'connected_gene': 'ARL9', 'score': 5.8}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.25}]
chr4 GH04I056504 56504855 56506564 1.56 [{'connected_gene': 'ARL9', 'score': 558.58}, {'connected_gene': 'SRP72', 'score': 42.54}, {'connected_gene': 'AASDH', 'score': 4.73}, {'connected_gene': 'LOC105377665', 'score': 0.34}]
chr4 GH04I056540 56540801 56541000 0.38 [{'connected_gene': 'ARL9', 'score': 12.28}, {'connected_gene': 'SRP72', 'score': 12.19}, {'connected_gene': 'PAICS', 'score': 11.04}, {'connected_gene': 'PPAT', 'score': 11.04}, {'connected_gene': 'SPINK2', 'score': 10.4}, {'connected_gene': 'ENSG00000251799', 'score': 10.4}, {'connected_gene': 'HOPX', 'score': 10.25}, {'connected_gene': 'AASDH', 'score': 10.06}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.23}]
chr4 GH04I056459 56459545 56461102 0.64 [{'connected_gene': 'ARL9', 'score': 20.07}, {'connected_gene': 'SRP72', 'score': 13.45}, {'connected_gene': 'PAICS', 'score': 12.18}, {'connected_gene': 'PPAT', 'score': 12.18}, {'connected_gene': 'AASDH', 'score': 10.29}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'GC04P056465', 'score': 0.77}, {'connected_gene': 'GC04P056437', 'score': 0.34}, {'connected_gene': 'GC04P056436', 'score': 0.34}]
chr4 GH04I056172 56172026 56172037 0.4 [{'connected_gene': 'ARL9', 'score': 1.79}, {'connected_gene': 'RNA5SP161', 'score': 0.19}, {'connected_gene': 'LOC101928760', 'score': 0.19}, {'connected_gene': 'KIAA1211', 'score': 0.13}, {'connected_gene': 'GC04P056007', 'score': 0.1}]
chr4 GH04I056515 56515314 56515318 0.22 [{'connected_gene': 'ARL9', 'score': 2.5}, {'connected_gene': 'LOC105377665', 'score': 0.37}]
chr4 GH04I056286 56286729 56286789 0.22 [{'connected_gene': 'RNU6-197P', 'score': 550.77}, {'connected_gene': 'KIAA1211', 'score': 2.96}, {'connected_gene': 'ARL9', 'score': 2.11}, {'connected_gene': 'LOC101928760', 'score': 0.26}]
chr4 GH04I056433 56433450 56438274 2.1 [{'connected_gene': 'PAICS', 'score': 550.77}, {'connected_gene': 'GC04P056437', 'score': 550.77}, {'connected_gene': 'GC04P056436', 'score': 550.77}, {'connected_gene': 'PPAT', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 50.26}, {'connected_gene': 'CEP135', 'score': 35.93}, {'connected_gene': 'AASDH', 'score': 33.8}, {'connected_gene': 'POLR2B', 'score': 32.68}, {'connected_gene': 'RN7SKP30', 'score': 31.62}, {'connected_gene': 'ENSG00000269921', 'score': 14.66}, {'connected_gene': 'ARL9', 'score': 7.67}]
chr4 GH04I056530 56530001 56531359 1.84 [{'connected_gene': 'THEGL', 'score': 567.59}, {'connected_gene': 'LOC105377665', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 22.14}, {'connected_gene': 'ARL9', 'score': 19.08}, {'connected_gene': 'ENSG00000251799', 'score': 10.66}, {'connected_gene': 'SPINK2', 'score': 10.66}, {'connected_gene': 'GLDCP1', 'score': 0.21}]
chr4 GH04I056531 56531515 56531664 0.38 [{'connected_gene': 'THEGL', 'score': 550.77}, {'connected_gene': 'LOC105377665', 'score': 550.77}, {'connected_gene': 'ARL9', 'score': 12.73}, {'connected_gene': 'SRP72', 'score': 12.63}, {'connected_gene': 'ENSG00000251799', 'score': 10.66}, {'connected_gene': 'SPINK2', 'score': 10.66}, {'connected_gene': 'GLDCP1', 'score': 0.21}]