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
ENST00000587591 [[43753518, 43753678], [43795776, 43796284]] [[43795846, 43796284]]
ENST00000588730 [[43753518, 43753678], [43796183, 43796561], [43819970, 43820018]] [[43796299, 43796561], [43819970, 43820018]]
ENST00000282059 [[43753992, 43754296], [43795776, 43796561], [43819970, 43820153], [43833662, 43833786], [43842891, 43846949]] [[43795846, 43796561], [43819970, 43820153], [43833662, 43833786], [43842891, 43843081]]
ENST00000321319 [[43753999, 43754296], [43795776, 43796561], [43833662, 43833786], [43842891, 43846946]] [[43795846, 43796561], [43833662, 43833786], [43842891, 43843081]]
NM_001008239 [[43753987, 43754296], [43795776, 43796561], [43833662, 43833786], [43842891, 43846955]] [[43795846, 43796561], [43833662, 43833786], [43842891, 43843081]]
NM_145055 [[43753987, 43754296], [43795776, 43796561], [43819970, 43820153], [43833662, 43833786], [43842891, 43846955]] [[43795846, 43796561], [43819970, 43820153], [43833662, 43833786], [43842891, 43843081]]
Promoter
Chrom Start End Description
chr18 43753462 43753499 CAGE_peak_5_at_C18orf25_5end
chr18 43753500 43753532 CAGE_peak_3_at_C18orf25_5end
chr18 43753544 43753557 CAGE_peak_6_at_C18orf25_5end
chr18 43753974 43754019 CAGE_peak_2_at_C18orf25_5end
chr18 43754021 43754071 CAGE_peak_1_at_C18orf25_5end
chr18 43754091 43754112 CAGE_peak_4_at_C18orf25_5end
chr18 43754125 43754134 CAGE_peak_10_at_C18orf25_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I045960 45960829 45964592 1.29 [{'connected_gene': 'EPG5', 'score': 22.55}, {'connected_gene': 'PSTPIP2', 'score': 16.12}, {'connected_gene': 'RNY4P37', 'score': 12.62}, {'connected_gene': 'C18orf25', 'score': 1.27}, {'connected_gene': 'GC18M045898', 'score': 0.21}]
chr18 GH18I046259 46259381 46265998 0.89 [{'connected_gene': 'RNF165', 'score': 11.24}, {'connected_gene': 'ATP5F1A', 'score': 6.51}, {'connected_gene': 'C18orf25', 'score': 6.24}, {'connected_gene': 'GC18P046277', 'score': 0.39}]
chr18 GH18I046151 46151884 46154131 1.42 [{'connected_gene': 'C18orf25', 'score': 6.06}, {'connected_gene': 'PSTPIP2', 'score': 5.15}, {'connected_gene': 'RNF165', 'score': 3.52}, {'connected_gene': 'GC18M046141', 'score': 0.37}, {'connected_gene': 'GC18M046122', 'score': 0.29}, {'connected_gene': 'RNU6-1278P', 'score': 0.29}]
chr18 GH18I046155 46155084 46157401 0.76 [{'connected_gene': 'C18orf25', 'score': 6.35}, {'connected_gene': 'EPG5', 'score': 4.7}, {'connected_gene': 'GC18M046141', 'score': 0.37}, {'connected_gene': 'GC18M046122', 'score': 0.29}, {'connected_gene': 'RNU6-1278P', 'score': 0.29}]
chr18 GH18I046172 46172900 46175615 2.08 [{'connected_gene': 'C18orf25', 'score': 556.71}, {'connected_gene': 'GC18M046141', 'score': 550.77}, {'connected_gene': 'HAUS1', 'score': 54.97}, {'connected_gene': 'EPG5', 'score': 46.89}, {'connected_gene': 'ENSG00000267724', 'score': 14.07}, {'connected_gene': 'GC18P046277', 'score': 0.15}]
chr18 GH18I046169 46169068 46170149 0.9 [{'connected_gene': 'C18orf25', 'score': 5.29}, {'connected_gene': 'GC18M046141', 'score': 0.77}, {'connected_gene': 'GC18M046122', 'score': 0.25}, {'connected_gene': 'RNU6-1278P', 'score': 0.25}]
chr18 GH18I046167 46167535 46168400 0.82 [{'connected_gene': 'C18orf25', 'score': 6.82}, {'connected_gene': 'GC18M046141', 'score': 0.77}, {'connected_gene': 'GC18M046122', 'score': 0.25}, {'connected_gene': 'RNU6-1278P', 'score': 0.25}]
chr18 GH18I046158 46158214 46159007 0.2 [{'connected_gene': 'C18orf25', 'score': 5.43}, {'connected_gene': 'GC18M046141', 'score': 0.39}, {'connected_gene': 'GC18M046122', 'score': 0.28}, {'connected_gene': 'RNU6-1278P', 'score': 0.28}]
chr18 GH18I046211 46211300 46212654 0.82 [{'connected_gene': 'C18orf25', 'score': 13.44}, {'connected_gene': 'GC18P046277', 'score': 0.2}]
chr18 GH18I046176 46176601 46176800 0.2 [{'connected_gene': 'C18orf25', 'score': 0.77}, {'connected_gene': 'GC18P046277', 'score': 0.15}]
chr18 GH18I046252 46252713 46254243 0.58 [{'connected_gene': 'C18orf25', 'score': 5.79}, {'connected_gene': 'GC18P046277', 'score': 0.34}]
chr18 GH18I046219 46219748 46220773 0.46 [{'connected_gene': 'C18orf25', 'score': 0.25}, {'connected_gene': 'GC18P046277', 'score': 0.22}]
chr18 GH18I046204 46204273 46205290 0.66 [{'connected_gene': 'C18orf25', 'score': 17.68}, {'connected_gene': 'GC18P046277', 'score': 0.19}]
chr18 GH18I046199 46199001 46200800 1.58 [{'connected_gene': 'C18orf25', 'score': 570.03}, {'connected_gene': 'GC18P046277', 'score': 0.18}]
chr18 GH18I046222 46222508 46223464 0.95 [{'connected_gene': 'C18orf25', 'score': 5.04}, {'connected_gene': 'GC18P046277', 'score': 0.23}]
chr18 GH18I046148 46148435 46149584 0.83 [{'connected_gene': 'HAUS1', 'score': 15.2}, {'connected_gene': 'C18orf25', 'score': 5.76}, {'connected_gene': 'GC18M046141', 'score': 0.34}, {'connected_gene': 'GC18M046122', 'score': 0.31}, {'connected_gene': 'RNU6-1278P', 'score': 0.31}]
chr18 GH18I046248 46248109 46251922 1.39 [{'connected_gene': 'ENSG00000267724', 'score': 14.36}, {'connected_gene': 'IER3IP1', 'score': 10.14}, {'connected_gene': 'PSTPIP2', 'score': 8.64}, {'connected_gene': 'C18orf25', 'score': 6.7}, {'connected_gene': 'ATP5F1A', 'score': 6.7}, {'connected_gene': 'EPG5', 'score': 2.9}, {'connected_gene': 'GC18P046277', 'score': 0.31}]
chr18 GH18I046282 46281078 46281829 0.63 [{'connected_gene': 'ENSG00000266968', 'score': 4.76}, {'connected_gene': 'C18orf25', 'score': 4.23}, {'connected_gene': 'GC18P046277', 'score': 0.77}, {'connected_gene': 'GC18P046309', 'score': 0.31}, {'connected_gene': 'GC18M046275', 'score': 0.26}]
chr18 GH18I046275 46274338 46274401 0.31 [{'connected_gene': 'GC18P046277', 'score': 0.77}, {'connected_gene': 'C18orf25', 'score': 0.15}]
chr18 GH18I046274 46274438 46274487 0.31 [{'connected_gene': 'GC18P046277', 'score': 0.77}, {'connected_gene': 'C18orf25', 'score': 0.15}]
chr18 GH18I046273 46273958 46274127 0.46 [{'connected_gene': 'GC18P046277', 'score': 0.77}, {'connected_gene': 'C18orf25', 'score': 0.15}]
chr18 GH18I046256 46256878 46258020 0.2 [{'connected_gene': 'GC18P046277', 'score': 0.34}, {'connected_gene': 'C18orf25', 'score': 0.18}]

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