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
ENST00000407595 [[56411257, 56412035], [56419611, 56420575], [56570013, 56570090], [56599478, 56599613], [56602950, 56603070], [56611400, 56613308]] [[56411759, 56412035], [56419611, 56420575], [56570013, 56570090], [56599478, 56599613], [56602950, 56603070], [56611400, 56611490]]
NM_001080433 [[56411257, 56412035], [56419611, 56420575], [56570013, 56570090], [56599478, 56599613], [56602950, 56603070], [56611400, 56613309]] [[56411759, 56412035], [56419611, 56420575], [56570013, 56570090], [56599478, 56599613], [56602950, 56603070], [56611400, 56611490]]
Promoter
Chrom Start End Description
chr2 56410925 56410946 CAGE_peak_5_at_CCDC85A_5end
chr2 56410948 56411039 CAGE_peak_2_at_CCDC85A_5end
chr2 56411109 56411130 CAGE_peak_4_at_CCDC85A_5end
chr2 56411131 56411187 CAGE_peak_1_at_CCDC85A_5end
chr2 56411726 56411742 CAGE_peak_3_at_CCDC85A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I056287 56287227 56290193 0.52 [{'connected_gene': 'PPP4R3B', 'score': 4.44}, {'connected_gene': 'GC02P056305', 'score': 0.37}, {'connected_gene': 'RNA5SP93', 'score': 0.23}, {'connected_gene': 'GC02M056236', 'score': 0.23}, {'connected_gene': 'CCDC85A', 'score': 0.15}, {'connected_gene': 'ENSG00000271894', 'score': 0.11}]
chr2 GH02I056740 56740915 56743070 0.88 [{'connected_gene': 'CCDC85A', 'score': 10.02}, {'connected_gene': 'PPIAP63', 'score': 0.44}, {'connected_gene': 'LOC101927213', 'score': 0.08}]
chr2 GH02I056680 56680190 56681949 0.56 [{'connected_gene': 'CCDC85A', 'score': 9.16}, {'connected_gene': 'PPIAP63', 'score': 0.2}, {'connected_gene': 'LOC101927213', 'score': 0.1}]
chr2 GH02I056447 56447657 56450742 1.02 [{'connected_gene': 'CCDC85A', 'score': 10.19}, {'connected_gene': 'LOC101927213', 'score': 0.19}, {'connected_gene': 'GC02P056305', 'score': 0.11}]
chr2 GH02I056443 56443926 56445867 0.62 [{'connected_gene': 'CCDC85A', 'score': 10.88}, {'connected_gene': 'LOC101927213', 'score': 0.18}, {'connected_gene': 'GC02P056305', 'score': 0.12}]
chr2 GH02I056474 56474320 56475455 0.87 [{'connected_gene': 'CCDC85A', 'score': 10.7}, {'connected_gene': 'LOC101927213', 'score': 0.25}, {'connected_gene': 'GC02P056305', 'score': 0.1}]
chr2 GH02I056382 56382031 56383353 0.54 [{'connected_gene': 'CCDC85A', 'score': 4.5}, {'connected_gene': 'GC02P056305', 'score': 0.18}, {'connected_gene': 'LOC101927213', 'score': 0.11}, {'connected_gene': 'ENSG00000271894', 'score': 0.07}]
chr2 GH02I056229 56229522 56230915 0.76 [{'connected_gene': 'CCDC85A', 'score': 19.31}, {'connected_gene': 'LOC100129434', 'score': 17.04}, {'connected_gene': 'RNA5SP93', 'score': 0.44}, {'connected_gene': 'GC02M056236', 'score': 0.44}, {'connected_gene': 'ENSG00000271894', 'score': 0.18}]
chr2 GH02I057179 57179434 57182706 0.62 [{'connected_gene': 'CCDC85A', 'score': 4.31}, {'connected_gene': 'GC02P057126', 'score': 0.22}, {'connected_gene': 'GC02P057351', 'score': 0.09}]
chr2 GH02I056522 56522466 56523505 0.69 [{'connected_gene': 'LOC101927213', 'score': 550.77}, {'connected_gene': 'CCDC85A', 'score': 17.06}, {'connected_gene': 'GC02P056305', 'score': 0.08}]
chr2 GH02I056183 56183600 56185801 1.87 [{'connected_gene': 'LOC100129434', 'score': 560.64}, {'connected_gene': 'CCDC85A', 'score': 555.49}, {'connected_gene': 'ENSG00000271894', 'score': 0.28}]
chr2 GH02I056327 56327829 56328129 0.24 [{'connected_gene': 'GC02P056305', 'score': 0.34}, {'connected_gene': 'CCDC85A', 'score': 0.11}, {'connected_gene': 'ENSG00000271894', 'score': 0.09}, {'connected_gene': 'LOC101927213', 'score': 0.08}]
chr2 GH02I056313 56313279 56316134 0.63 [{'connected_gene': 'GC02P056305', 'score': 0.44}, {'connected_gene': 'CCDC85A', 'score': 0.12}, {'connected_gene': 'ENSG00000271894', 'score': 0.1}, {'connected_gene': 'LOC101927213', 'score': 0.08}]
chr2 GH02I056348 56348430 56348550 0.22 [{'connected_gene': 'GC02P056305', 'score': 0.26}, {'connected_gene': 'CCDC85A', 'score': 0.1}, {'connected_gene': 'LOC101927213', 'score': 0.09}, {'connected_gene': 'ENSG00000271894', 'score': 0.08}]
chr2 GH02I056376 56376952 56378040 0.38 [{'connected_gene': 'GC02P056305', 'score': 0.19}, {'connected_gene': 'LOC101927213', 'score': 0.11}, {'connected_gene': 'CCDC85A', 'score': 0.08}, {'connected_gene': 'ENSG00000271894', 'score': 0.07}]