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
ENST00000215061 [[17337012, 17337125], [17337501, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17340028]] [[17337056, 17337125], [17337501, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17339734]]
ENST00000602236 [[17337021, 17337162], [17337501, 17337678], [17337802, 17338008]] None
ENST00000601576 [[17337030, 17337162], [17337501, 17337678], [17337783, 17338008], [17338648, 17338752]] None
ENST00000601529 [[17337033, 17337125], [17337501, 17337678], [17337802, 17338008], [17339064, 17339118], [17339611, 17340024]] [[17337056, 17337125], [17337501, 17337678], [17337802, 17338008], [17339064, 17339110]]
ENST00000599588 [[17337034, 17337125], [17337501, 17338008], [17339064, 17339118], [17339189, 17340022]] None
ENST00000594283 [[17337051, 17337125], [17337501, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17340011]] None
ENST00000600232 [[17337061, 17337125], [17337501, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339817, 17340028]] [[17337061, 17337125], [17337501, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339817, 17339883]]
ENST00000597836 [[17337423, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17339974]] [[17337600, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17339734]]
ENST00000598068 [[17337548, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339239, 17340024]] [[17337548, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339239, 17339422]]
ENST00000596279 [[17337590, 17338008], [17338648, 17338814], [17339064, 17339322]] None
ENST00000598172 [[17337647, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339219, 17339514]] [[17337647, 17337678], [17337802, 17338008], [17338648, 17338665]]
ENST00000599286 [[17337851, 17338008], [17339064, 17339118], [17339817, 17340027]] [[17337851, 17338008], [17339064, 17339066]]
ENST00000595769 [[17337966, 17338008], [17339064, 17339752]] None
ENST00000595573 [[17339062, 17339118], [17339611, 17339724], [17339817, 17340024]] [[17339062, 17339118], [17339611, 17339724], [17339817, 17339935]]
ENST00000600826 [[17339064, 17339118], [17339611, 17339635], [17339754, 17340024]] [[17339064, 17339118], [17339611, 17339635], [17339754, 17339883]]
NM_024578 [[17337012, 17337125], [17337501, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17340028]] [[17337056, 17337125], [17337501, 17337678], [17337802, 17338008], [17338648, 17338814], [17339064, 17339118], [17339611, 17339734]]
Promoter
Chrom Start End Description
chr19 17337007 17337018 CAGE_peak_3_at_OCEL1_5end
chr19 17337027 17337060 CAGE_peak_1_at_OCEL1_5end
chr19 17337406 17337461 CAGE_peak_2_at_OCEL1_5end
chr19 17337473 17337485 CAGE_peak_5_at_OCEL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I017237 17237616 17238009 0.43 [{'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'OCEL1', 'score': 8.69}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'NR2F6', 'score': 0.44}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19 GH19I017238 17238518 17239045 0.43 [{'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'ANKLE1', 'score': 4.81}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'NR2F6', 'score': 0.44}, {'connected_gene': 'OCEL1', 'score': 0.39}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19 GH19I016247 16247210 16248121 1.01 [{'connected_gene': 'AP1M1', 'score': 20.38}, {'connected_gene': 'CHERP', 'score': 16.73}, {'connected_gene': 'C19orf44', 'score': 15.89}, {'connected_gene': 'AKAP8', 'score': 13.86}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'KLF2', 'score': 12.27}, {'connected_gene': 'ENSG00000267904', 'score': 10.63}, {'connected_gene': 'OCEL1', 'score': 4.36}, {'connected_gene': 'GC19M016240', 'score': 0.44}, {'connected_gene': 'PIR54763', 'score': 0.25}, {'connected_gene': 'GC19M016221', 'score': 0.05}]
chr19 GH19I017133 17133402 17137689 1.64 [{'connected_gene': 'C19orf44', 'score': 4.64}, {'connected_gene': 'MYO9B', 'score': 3.87}, {'connected_gene': 'SLC27A1', 'score': 1.86}, {'connected_gene': 'OCEL1', 'score': 1.64}, {'connected_gene': 'PGLS', 'score': 1.52}, {'connected_gene': 'GC19M017123', 'score': 0.44}, {'connected_gene': 'ENSG00000268056', 'score': 0.29}]
chr19 GH19I017225 17225432 17228194 2.27 [{'connected_gene': 'OCEL1', 'score': 597.41}, {'connected_gene': 'MVB12A', 'score': 12.6}, {'connected_gene': 'PGLS', 'score': 11.92}, {'connected_gene': 'ENSG00000269578', 'score': 11.2}, {'connected_gene': 'ENSG00000268087', 'score': 10.82}, {'connected_gene': 'COLGALT1', 'score': 10.64}, {'connected_gene': 'USE1', 'score': 5.37}, {'connected_gene': 'ANKLE1', 'score': 4.52}, {'connected_gene': 'GC19M017243', 'score': 0.37}]
chr19 GH19I017205 17205332 17205521 0.68 [{'connected_gene': 'OCEL1', 'score': 6.77}, {'connected_gene': 'USE1', 'score': 5.8}, {'connected_gene': 'GC19M017198', 'score': 0.77}, {'connected_gene': 'ENSG00000269480', 'score': 0.77}, {'connected_gene': 'MYO9B', 'score': 0.13}]
chr19 GH19I017172 17172957 17173948 0.72 [{'connected_gene': 'OCEL1', 'score': 18.51}, {'connected_gene': 'USE1', 'score': 13.17}, {'connected_gene': 'NR2F6', 'score': 11.94}, {'connected_gene': 'CPAMD8', 'score': 10.88}, {'connected_gene': 'ENSG00000269836', 'score': 0.44}, {'connected_gene': 'ENSG00000268056', 'score': 0.44}, {'connected_gene': 'MYO9B', 'score': 0.15}]
chr19 GH19I017224 17224601 17224800 0.38 [{'connected_gene': 'OCEL1', 'score': 570.2}, {'connected_gene': 'USE1', 'score': 0.44}]
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 GH19I017156 17156187 17157385 0.58 [{'connected_gene': 'OCEL1', 'score': 6.61}, {'connected_gene': 'ENSG00000268056', 'score': 0.39}, {'connected_gene': 'GC19M017123', 'score': 0.31}, {'connected_gene': 'MYO9B', 'score': 0.18}]
chr19 GH19I017140 17140663 17142908 0.43 [{'connected_gene': 'OCEL1', 'score': 4.76}, {'connected_gene': 'GC19M017123', 'score': 0.39}, {'connected_gene': 'ENSG00000268056', 'score': 0.31}, {'connected_gene': 'MYO9B', 'score': 0.2}]
chr19 GH19I017182 17182609 17185098 1.03 [{'connected_gene': 'OCEL1', 'score': 11.6}, {'connected_gene': 'SLC27A1', 'score': 4.43}, {'connected_gene': 'GC19P020251', 'score': 0.77}, {'connected_gene': 'GC19M017192', 'score': 0.39}, {'connected_gene': 'MYO9B', 'score': 0.14}]
chr19 GH19I017234 17234277 17237438 1.61 [{'connected_gene': 'OCEL1', 'score': 11.99}, {'connected_gene': 'NR2F6', 'score': 11.52}, {'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'GTPBP3', 'score': 7.62}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19 GH19I017219 17219572 17220945 1.22 [{'connected_gene': 'OCEL1', 'score': 20.17}, {'connected_gene': 'NR2F6', 'score': 5.97}, {'connected_gene': 'USE1', 'score': 0.77}]
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 GH19I017214 17214422 17216612 2.08 [{'connected_gene': 'USE1', 'score': 557.47}, {'connected_gene': 'OCEL1', 'score': 15.26}, {'connected_gene': 'MVB12A', 'score': 12.59}, {'connected_gene': 'PGLS', 'score': 11.92}, {'connected_gene': 'ENSG00000269578', 'score': 11.2}, {'connected_gene': 'ENSG00000268087', 'score': 10.82}, {'connected_gene': 'COLGALT1', 'score': 10.64}, {'connected_gene': 'IL12RB1', 'score': 4.95}, {'connected_gene': 'MYO9B', 'score': 0.12}]
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 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 GH19I016337 16337410 16340399 1.44 [{'connected_gene': 'EPS15L1', 'score': 5.85}, {'connected_gene': 'C19orf44', 'score': 5.22}, {'connected_gene': 'OCEL1', 'score': 4.72}, {'connected_gene': 'KLF2', 'score': 3.67}, {'connected_gene': 'RAB8A', 'score': 1.18}, {'connected_gene': 'ENSG00000277825', 'score': 0.39}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I017264 17264001 17269054 2.05 [{'connected_gene': 'BABAM1', 'score': 561.23}, {'connected_gene': 'ENSG00000269307', 'score': 550.77}, {'connected_gene': 'USHBP1', 'score': 550.37}, {'connected_gene': 'CHERP', 'score': 13.08}, {'connected_gene': 'ABHD8', 'score': 12.06}, {'connected_gene': 'PLVAP', 'score': 11.67}, {'connected_gene': 'F2RL3', 'score': 11.09}, {'connected_gene': 'OCEL1', 'score': 10.37}, {'connected_gene': 'GTPBP3', 'score': 8.77}, {'connected_gene': 'ENSG00000269427', 'score': 5.32}, {'connected_gene': 'ANKLE1', 'score': 4.86}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}]
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 GH19I017382 17382391 17383835 1.11 [{'connected_gene': 'GC19M017383', 'score': 550.77}, {'connected_gene': 'MVB12A', 'score': 16.07}, {'connected_gene': 'OCEL1', 'score': 5.99}, {'connected_gene': 'LOC105372298', 'score': 0.77}, {'connected_gene': 'GC19P020268', 'score': 0.39}]
chr19 GH19I017180 17180648 17181746 0.46 [{'connected_gene': 'GC19P020251', 'score': 550.77}, {'connected_gene': 'OCEL1', 'score': 19.04}, {'connected_gene': 'USE1', 'score': 13.2}, {'connected_gene': 'HAUS8', 'score': 12.28}, {'connected_gene': 'ENSG00000269836', 'score': 0.77}, {'connected_gene': 'MYO9B', 'score': 0.14}]
chr19 GH19I017261 17260472 17261366 1.65 [{'connected_gene': 'ENSG00000269578', 'score': 32.06}, {'connected_gene': 'ENSG00000267904', 'score': 28.6}, {'connected_gene': 'CHERP', 'score': 27.24}, {'connected_gene': 'MVB12A', 'score': 24.37}, {'connected_gene': 'ENSG00000268087', 'score': 22.35}, {'connected_gene': 'COLGALT1', 'score': 21.65}, {'connected_gene': 'ENSG00000268743', 'score': 20.9}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'OCEL1', 'score': 12.4}, {'connected_gene': 'GTPBP3', 'score': 11.66}, {'connected_gene': 'HAUS8', 'score': 11.42}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'PLVAP', 'score': 10.14}, {'connected_gene': 'BABAM1', 'score': 8.28}, {'connected_gene': 'NXNL1', 'score': 2.11}, {'connected_gene': 'ENSG00000269095', 'score': 0.44}, {'connected_gene': 'USHBP1', 'score': 0.34}]

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