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
ENST00000595444 [[17403417, 17403663], [17416639, 17416766], [17416974, 17417464]] [[17403449, 17403663], [17416639, 17416766], [17416974, 17417188]]
ENST00000600434 [[17403441, 17403663], [17409120, 17409186], [17416639, 17416766], [17416974, 17417352]] [[17416701, 17416766], [17416974, 17417188]]
ENST00000597996 [[17408553, 17408768], [17409050, 17409239]] None
ENST00000594999 [[17413675, 17413743], [17416639, 17416766], [17416974, 17417334]] [[17416701, 17416766], [17416974, 17417188]]
ENST00000252602 [[17416476, 17416766], [17416974, 17417652]] [[17416701, 17416766], [17416974, 17417188]]
ENST00000602206 [[17416680, 17416742], [17417050, 17417591]] [[17416701, 17416742], [17417050, 17417120]]
NM_023937 [[17416476, 17416766], [17416974, 17417652]] [[17416701, 17416766], [17416974, 17417188]]
Promoter
Chrom Start End Description
chr19 17416457 17416473 CAGE_peak_2_at_MRPL34_5end
chr19 17416609 17416716 CAGE_peak_1_at_MRPL34_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I017333 17333041 17335481 2.31 [{'connected_gene': 'GTPBP3', 'score': 582.64}, {'connected_gene': 'ANO8', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 52.22}, {'connected_gene': 'IQCN', 'score': 33.64}, {'connected_gene': 'C19orf44', 'score': 32.5}, {'connected_gene': 'ENSG00000267904', 'score': 32.11}, {'connected_gene': 'ENSG00000268743', 'score': 31.95}, {'connected_gene': 'ENSG00000268087', 'score': 29.86}, {'connected_gene': 'MRPL34', 'score': 28.41}, {'connected_gene': 'ENSG00000269578', 'score': 28.02}, {'connected_gene': 'MED26', 'score': 26.43}, {'connected_gene': 'MVB12A', 'score': 24.01}, {'connected_gene': 'SIN3B', 'score': 22.9}, {'connected_gene': 'ENSG00000269427', 'score': 21.15}, {'connected_gene': 'ABHD8', 'score': 13.43}, {'connected_gene': 'ANKLE1', 'score': 12.89}, {'connected_gene': 'DDA1', 'score': 12.73}, {'connected_gene': 'ENSG00000269044', 'score': 12.58}, {'connected_gene': 'COLGALT1', 'score': 12.14}, {'connected_gene': 'SMIM7', 'score': 12.02}, {'connected_gene': 'HAUS8', 'score': 11.8}, {'connected_gene': 'BST2', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'ENSG00000269481', 'score': 10.11}, {'connected_gene': 'LOC100507551', 'score': 10.03}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19 GH19I017336 17336092 17338619 2.35 [{'connected_gene': 'GTPBP3', 'score': 561.72}, {'connected_gene': 'CHERP', 'score': 155.59}, {'connected_gene': 'ENSG00000269578', 'score': 134.62}, {'connected_gene': 'ENSG00000268743', 'score': 85.51}, {'connected_gene': 'IQCN', 'score': 83.91}, {'connected_gene': 'COLGALT1', 'score': 66.83}, {'connected_gene': 'C19orf44', 'score': 66.54}, {'connected_gene': 'SIN3B', 'score': 58.74}, {'connected_gene': 'HAUS8', 'score': 56.73}, {'connected_gene': 'MVB12A', 'score': 46.08}, {'connected_gene': 'ENSG00000268087', 'score': 40.49}, {'connected_gene': 'ENSG00000267904', 'score': 37.5}, {'connected_gene': 'MED26', 'score': 35.43}, {'connected_gene': 'MRPL34', 'score': 23.74}, {'connected_gene': 'PLVAP', 'score': 22.62}, {'connected_gene': 'ENSG00000269044', 'score': 21.23}, {'connected_gene': 'ABHD8', 'score': 20.88}, {'connected_gene': 'SMIM7', 'score': 20.23}, {'connected_gene': 'BST2', 'score': 11.56}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'ENSG00000269815', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'JUND', 'score': 10.39}, {'connected_gene': 'ANKLE1', 'score': 6.64}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017153 17153839 17154813 0.31 [{'connected_gene': 'OCEL1', 'score': 5.2}, {'connected_gene': 'MRPL34', 'score': 4.99}, {'connected_gene': 'ENSG00000268056', 'score': 0.39}, {'connected_gene': 'GC19M017123', 'score': 0.31}, {'connected_gene': 'MYO9B', 'score': 0.18}]
chr19 GH19I017307 17307912 17313543 2.28 [{'connected_gene': 'ABHD8', 'score': 571.27}, {'connected_gene': 'DDA1', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 57.56}, {'connected_gene': 'MRPL34', 'score': 42.36}, {'connected_gene': 'C19orf44', 'score': 36.57}, {'connected_gene': 'ENSG00000268743', 'score': 32.03}, {'connected_gene': 'SIN3B', 'score': 25.05}, {'connected_gene': 'ENSG00000269427', 'score': 22.66}, {'connected_gene': 'ENSG00000269044', 'score': 20.91}, {'connected_gene': 'ENSG00000267904', 'score': 20.17}, {'connected_gene': 'MED26', 'score': 19.34}, {'connected_gene': 'HAUS8', 'score': 13.93}, {'connected_gene': 'IQCN', 'score': 13.22}, {'connected_gene': 'OCEL1', 'score': 13.02}, {'connected_gene': 'GTPBP3', 'score': 12.87}, {'connected_gene': 'ENSG00000269815', 'score': 11.29}, {'connected_gene': 'LOC100507551', 'score': 11.12}, {'connected_gene': 'ENSG00000269578', 'score': 11.06}, {'connected_gene': 'SMIM7', 'score': 10.66}, {'connected_gene': 'ENSG00000268087', 'score': 9.78}, {'connected_gene': 'PLVAP', 'score': 8.33}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19 GH19I017340 17340044 17341673 1.26 [{'connected_gene': 'ABHD8', 'score': 20.61}, {'connected_gene': 'MRPL34', 'score': 15.57}, {'connected_gene': 'PLVAP', 'score': 12.82}, {'connected_gene': 'MVB12A', 'score': 12.75}, {'connected_gene': 'BST2', 'score': 11.63}, {'connected_gene': 'NXNL1', 'score': 11.16}, {'connected_gene': 'ANKLE1', 'score': 6.41}, {'connected_gene': 'CHERP', 'score': 5.09}, {'connected_gene': 'GTPBP3', 'score': 0.44}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017332 17332692 17332901 0.81 [{'connected_gene': 'ABHD8', 'score': 13.43}, {'connected_gene': 'MRPL34', 'score': 13.35}, {'connected_gene': 'DDA1', 'score': 12.73}, {'connected_gene': 'MVB12A', 'score': 11.44}, {'connected_gene': 'BST2', 'score': 11.15}, {'connected_gene': 'ANO8', 'score': 0.77}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19 GH19I017316 17316770 17318279 0.85 [{'connected_gene': 'MRPL34', 'score': 33.04}, {'connected_gene': 'ENSG00000269578', 'score': 16.28}, {'connected_gene': 'C19orf44', 'score': 15.02}, {'connected_gene': 'ABHD8', 'score': 14.67}, {'connected_gene': 'ENSG00000268743', 'score': 13.79}, {'connected_gene': 'CHERP', 'score': 13.62}, {'connected_gene': 'IQCN', 'score': 12.57}, {'connected_gene': 'SIN3B', 'score': 11.79}, {'connected_gene': 'ENSG00000268087', 'score': 10.77}, {'connected_gene': 'GTPBP3', 'score': 10.35}, {'connected_gene': 'ENSG00000267904', 'score': 10.28}, {'connected_gene': 'SMIM7', 'score': 10.22}, {'connected_gene': 'PIR41076', 'score': 0.77}, {'connected_gene': 'DDA1', 'score': 0.44}]
chr19 GH19I017338 17338772 17339186 0.74 [{'connected_gene': 'MRPL34', 'score': 15.46}, {'connected_gene': 'PLVAP', 'score': 12.82}, {'connected_gene': 'MVB12A', 'score': 12.75}, {'connected_gene': 'BST2', 'score': 11.63}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'NXNL1', 'score': 11.16}, {'connected_gene': 'GTPBP3', 'score': 0.77}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017286 17286409 17287521 0.46 [{'connected_gene': 'MRPL34', 'score': 15.93}, {'connected_gene': 'OCEL1', 'score': 13.57}, {'connected_gene': 'ABHD8', 'score': 12.12}, {'connected_gene': 'USHBP1', 'score': 0.77}, {'connected_gene': 'ANKLE1', 'score': 0.44}]
chr19 GH19I017326 17326150 17330824 1.21 [{'connected_gene': 'MRPL34', 'score': 36.49}, {'connected_gene': 'ABHD8', 'score': 17.39}, {'connected_gene': 'MVB12A', 'score': 11.43}, {'connected_gene': 'BST2', 'score': 11.14}, {'connected_gene': 'PLVAP', 'score': 8.4}, {'connected_gene': 'ANO8', 'score': 0.44}, {'connected_gene': 'PIR41076', 'score': 0.44}]
chr19 GH19I017289 17289391 17290000 0.79 [{'connected_gene': 'MRPL34', 'score': 17.89}, {'connected_gene': 'ABHD8', 'score': 12.91}, {'connected_gene': 'USHBP1', 'score': 0.44}]
chr19 GH19I017302 17302025 17306988 2.1 [{'connected_gene': 'MRPL34', 'score': 592.79}, {'connected_gene': 'ABHD8', 'score': 571.25}, {'connected_gene': 'CHERP', 'score': 49.28}, {'connected_gene': 'HAUS8', 'score': 26.23}, {'connected_gene': 'C19orf44', 'score': 24.54}, {'connected_gene': 'ENSG00000268743', 'score': 21.42}, {'connected_gene': 'IQCN', 'score': 21.4}, {'connected_gene': 'MED26', 'score': 19.34}, {'connected_gene': 'ENSG00000269578', 'score': 15.85}, {'connected_gene': 'COLGALT1', 'score': 14.65}, {'connected_gene': 'ENSG00000269427', 'score': 13.65}, {'connected_gene': 'MVB12A', 'score': 11.12}, {'connected_gene': 'PLVAP', 'score': 10.74}, {'connected_gene': 'ENSG00000267904', 'score': 10.6}, {'connected_gene': 'DDA1', 'score': 0.44}, {'connected_gene': 'ENSG00000269815', 'score': 0.44}]
chr19 GH19I017293 17293601 17294781 0.87 [{'connected_gene': 'MRPL34', 'score': 556.67}, {'connected_gene': 'CHERP', 'score': 21.62}, {'connected_gene': 'ENSG00000269578', 'score': 16.4}, {'connected_gene': 'ENSG00000268743', 'score': 15.5}, {'connected_gene': 'IQCN', 'score': 14.35}, {'connected_gene': 'C19orf44', 'score': 13.45}, {'connected_gene': 'ENSG00000268087', 'score': 12.44}, {'connected_gene': 'SIN3B', 'score': 11.39}, {'connected_gene': 'ENSG00000267904', 'score': 11.31}, {'connected_gene': 'GTPBP3', 'score': 10.23}, {'connected_gene': 'MED26', 'score': 9.97}, {'connected_gene': 'ABHD8', 'score': 7.59}, {'connected_gene': 'ENSG00000269815', 'score': 0.77}]
chr19 GH19I017291 17291846 17293541 1.43 [{'connected_gene': 'MRPL34', 'score': 562.83}, {'connected_gene': 'CHERP', 'score': 21.62}, {'connected_gene': 'ENSG00000269578', 'score': 16.4}, {'connected_gene': 'ENSG00000268743', 'score': 15.5}, {'connected_gene': 'IQCN', 'score': 14.35}, {'connected_gene': 'OCEL1', 'score': 13.68}, {'connected_gene': 'C19orf44', 'score': 13.45}, {'connected_gene': 'ENSG00000268087', 'score': 12.44}, {'connected_gene': 'ABHD8', 'score': 12.23}, {'connected_gene': 'SIN3B', 'score': 11.39}, {'connected_gene': 'ENSG00000267904', 'score': 11.31}, {'connected_gene': 'GTPBP3', 'score': 10.23}, {'connected_gene': 'MED26', 'score': 9.97}, {'connected_gene': 'ENSG00000269815', 'score': 0.77}]
chr19 GH19I017239 17239839 17250193 2.3 [{'connected_gene': 'NR2F6', 'score': 568.47}, {'connected_gene': 'GC19M017243', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 26.13}, {'connected_gene': 'ENSG00000267904', 'score': 25.16}, {'connected_gene': 'MVB12A', 'score': 22.31}, {'connected_gene': 'GTPBP3', 'score': 19.74}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'ENSG00000268087', 'score': 14.7}, {'connected_gene': 'OCEL1', 'score': 14.69}, {'connected_gene': 'ENSG00000268743', 'score': 12.98}, {'connected_gene': 'ENSG00000269578', 'score': 11.19}, {'connected_gene': 'FCHO1', 'score': 10.66}, {'connected_gene': 'BST2', 'score': 10.58}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'RPL18A', 'score': 10.5}, {'connected_gene': 'BABAM1', 'score': 8.33}, {'connected_gene': 'ABHD8', 'score': 8.18}, {'connected_gene': 'MRPL34', 'score': 7.11}, {'connected_gene': 'ANKLE1', 'score': 5.4}, {'connected_gene': 'ENSG00000269427', 'score': 5.04}, {'connected_gene': 'UNC13A', 'score': 4.42}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}, {'connected_gene': 'USHBP1', 'score': 0.28}]
chr19 GH19I017281 17281021 17283139 1.98 [{'connected_gene': 'ANKLE1', 'score': 557.87}, {'connected_gene': 'USHBP1', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 14.96}, {'connected_gene': 'OCEL1', 'score': 13.88}, {'connected_gene': 'ABHD8', 'score': 11.94}, {'connected_gene': 'ENSG00000269307', 'score': 0.39}, {'connected_gene': 'BABAM1', 'score': 0.39}]
chr19 GH19I017379 17379074 17379780 0.97 [{'connected_gene': 'LOC105372298', 'score': 550.77}, {'connected_gene': 'GC19M017379', 'score': 550.77}, {'connected_gene': 'BISPR', 'score': 11.43}, {'connected_gene': 'MRPL34', 'score': 6.28}, {'connected_gene': 'PLVAP', 'score': 0.77}, {'connected_gene': 'GC19P020268', 'score': 0.39}]
chr19 GH19I017352 17352172 17354139 0.81 [{'connected_gene': 'CHERP', 'score': 16.7}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'ENSG00000267904', 'score': 10.6}, {'connected_gene': 'PLVAP', 'score': 8.74}, {'connected_gene': 'MRPL34', 'score': 4.99}, {'connected_gene': 'ENSG00000269350', 'score': 0.44}, {'connected_gene': 'GTPBP3', 'score': 0.37}]
chr19 GH19I017346 17346200 17349601 1.33 [{'connected_gene': 'CHERP', 'score': 27.24}, {'connected_gene': 'ENSG00000267904', 'score': 20.23}, {'connected_gene': 'ENSG00000269578', 'score': 19.24}, {'connected_gene': 'ABHD8', 'score': 16.92}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'MRPL34', 'score': 14.92}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'MVB12A', 'score': 12.8}, {'connected_gene': 'ENSG00000268087', 'score': 12.73}, {'connected_gene': 'COLGALT1', 'score': 12.15}, {'connected_gene': 'GTPBP3', 'score': 11.35}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'ANKLE1', 'score': 7.6}, {'connected_gene': 'ENSG00000269350', 'score': 0.39}]
chr19 GH19I017321 17321549 17325425 0.77 [{'connected_gene': 'PIR41076', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 36.52}, {'connected_gene': 'ABHD8', 'score': 14.81}, {'connected_gene': 'MVB12A', 'score': 11.42}, {'connected_gene': 'BST2', 'score': 11.13}, {'connected_gene': 'ANO8', 'score': 0.39}, {'connected_gene': 'DDA1', 'score': 0.39}]
chr19 GH19I017295 17295686 17297644 0.89 [{'connected_gene': 'ENSG00000269815', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 17.53}, {'connected_gene': 'ABHD8', 'score': 12.72}]

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