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
NM_020205 [[149912228, 149916964], [149919151, 149919236], [149920870, 149920985], [149921531, 149921681], [149921996, 149922124], [149931602, 149931715], [149936146, 149936274], [149937701, 149937803], [149939218, 149939446], [149942990, 149943179], [149949360, 149949511], [149982396, 149982686]] [[149915755, 149916964], [149919151, 149919236], [149920870, 149920985], [149921531, 149921681], [149921996, 149922124], [149931602, 149931715], [149936146, 149936274], [149937701, 149937803], [149939218, 149939446], [149942990, 149943179], [149949360, 149949445]]
Promoter
Chrom Start End Description
chr1 149982427 149982438 CAGE_peak_5_at_OTUD7B_5end
chr1 149982468 149982487 CAGE_peak_4_at_OTUD7B_5end
chr1 149982554 149982573 CAGE_peak_3_at_OTUD7B_5end
chr1 149982575 149982601 CAGE_peak_2_at_OTUD7B_5end
chr1 149982638 149982719 CAGE_peak_1_at_OTUD7B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150000 150000575 150004569 0.79 [{'connected_gene': 'SV2A', 'score': 26.68}, {'connected_gene': 'PRPF3', 'score': 22.7}, {'connected_gene': 'HIST2H2AB', 'score': 22.02}, {'connected_gene': 'SF3B4', 'score': 21.4}, {'connected_gene': 'SETDB1', 'score': 18.48}, {'connected_gene': 'RPRD2', 'score': 17.77}, {'connected_gene': 'UBE2D3P3', 'score': 15.05}, {'connected_gene': 'VPS45', 'score': 13.6}, {'connected_gene': 'ARNT', 'score': 12.98}, {'connected_gene': 'MTMR11', 'score': 11.07}, {'connected_gene': 'BOLA1', 'score': 11.04}, {'connected_gene': 'HIST2H2AC', 'score': 11.04}, {'connected_gene': 'HIST2H2BE', 'score': 11.04}, {'connected_gene': 'PLEKHO1', 'score': 10.23}, {'connected_gene': 'HIST2H2AA3', 'score': 4.38}, {'connected_gene': 'OTUD7B', 'score': 0.44}, {'connected_gene': 'PIR49087', 'score': 0.21}]
chr1 GH01I150012 150012684 150012968 0.71 [{'connected_gene': 'SV2A', 'score': 1.26}, {'connected_gene': 'OTUD7B', 'score': 0.77}, {'connected_gene': 'GC01P150029', 'score': 0.37}]
chr1 GH01I150020 150020576 150022962 1.08 [{'connected_gene': 'SV2A', 'score': 14.16}, {'connected_gene': 'GC01P150029', 'score': 0.44}, {'connected_gene': 'OTUD7B', 'score': 0.39}]
chr1 GH01I150001 149999562 150000384 0.2 [{'connected_gene': 'SV2A', 'score': 18.87}, {'connected_gene': 'MTMR11', 'score': 11.08}, {'connected_gene': 'HIST2H2AC', 'score': 10.35}, {'connected_gene': 'HIST2H2AB', 'score': 10.35}, {'connected_gene': 'HIST2H2BE', 'score': 10.35}, {'connected_gene': 'BOLA1', 'score': 10.35}, {'connected_gene': 'PLEKHO1', 'score': 10.23}, {'connected_gene': 'OTUD7B', 'score': 0.39}, {'connected_gene': 'PIR49087', 'score': 0.21}]
chr1 GH01I150015 150015734 150018080 1.08 [{'connected_gene': 'SV2A', 'score': 14.17}, {'connected_gene': 'MTMR11', 'score': 7.75}, {'connected_gene': 'ENSG00000261716', 'score': 4.99}, {'connected_gene': 'HIST2H2AA3', 'score': 4.77}, {'connected_gene': 'HIST2H2AB', 'score': 4.47}, {'connected_gene': 'OTUD7B', 'score': 0.44}, {'connected_gene': 'GC01P150029', 'score': 0.39}]
chr1 GH01I149997 149997401 149998200 1.19 [{'connected_gene': 'SV2A', 'score': 15.38}, {'connected_gene': 'MTMR11', 'score': 11.08}, {'connected_gene': 'HIST2H2AB', 'score': 10.36}, {'connected_gene': 'BOLA1', 'score': 10.36}, {'connected_gene': 'HIST2H2AC', 'score': 10.35}, {'connected_gene': 'HIST2H2BE', 'score': 10.35}, {'connected_gene': 'PLEKHO1', 'score': 10.22}, {'connected_gene': 'OTUD7B', 'score': 0.39}, {'connected_gene': 'PIR49087', 'score': 0.22}]
chr1 GH01I150051 150051001 150051200 0.62 [{'connected_gene': 'HIST2H2AC', 'score': 11.82}, {'connected_gene': 'HIST2H2BE', 'score': 11.82}, {'connected_gene': 'BOLA1', 'score': 11.82}, {'connected_gene': 'OTUD7B', 'score': 11.42}, {'connected_gene': 'PLEKHO1', 'score': 11.2}, {'connected_gene': 'LOC441907', 'score': 0.77}, {'connected_gene': 'GC01M150049', 'score': 0.44}, {'connected_gene': 'LOC105371427', 'score': 0.37}]
chr1 GH01I150061 150061386 150062280 0.79 [{'connected_gene': 'HIST2H2AC', 'score': 14.66}, {'connected_gene': 'OTUD7B', 'score': 11.24}, {'connected_gene': 'MTMR11', 'score': 11.2}, {'connected_gene': 'PLEKHO1', 'score': 11.04}, {'connected_gene': 'HIST2H2AA3', 'score': 10.32}, {'connected_gene': 'HIST2H2BD', 'score': 10.32}, {'connected_gene': 'SF3B4', 'score': 10.32}, {'connected_gene': 'HIST2H3C', 'score': 10.32}, {'connected_gene': 'HIST2H2BE', 'score': 10.05}, {'connected_gene': 'BOLA1', 'score': 10.05}, {'connected_gene': 'LOC105371427', 'score': 0.44}, {'connected_gene': 'LOC441907', 'score': 0.44}, {'connected_gene': 'GC01M150063', 'score': 0.44}]
chr1 GH01I150008 150008770 150011646 2.62 [{'connected_gene': 'OTUD7B', 'score': 553.09}, {'connected_gene': 'PRPF3', 'score': 24.87}, {'connected_gene': 'SETDB1', 'score': 23.77}, {'connected_gene': 'MTMR11', 'score': 18.5}, {'connected_gene': 'ARNT', 'score': 14.12}, {'connected_gene': 'ADAMTSL4', 'score': 14.11}, {'connected_gene': 'SV2A', 'score': 13.5}, {'connected_gene': 'UBE2D3P3', 'score': 13.49}, {'connected_gene': 'RPRD2', 'score': 12.01}, {'connected_gene': 'CTSK', 'score': 11.78}, {'connected_gene': 'SF3B4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.42}, {'connected_gene': 'BOLA1', 'score': 10.42}, {'connected_gene': 'HIST2H2AC', 'score': 10.42}, {'connected_gene': 'HIST2H2BE', 'score': 10.42}, {'connected_gene': 'MCL1', 'score': 9.68}, {'connected_gene': 'CA14', 'score': 9.21}, {'connected_gene': 'ANP32E', 'score': 1.8}, {'connected_gene': 'PIR49087', 'score': 0.19}]
chr1 GH01I149988 149988178 149989202 0.43 [{'connected_gene': 'OTUD7B', 'score': 11.95}, {'connected_gene': 'MTMR11', 'score': 10.75}, {'connected_gene': 'SV2A', 'score': 10.26}, {'connected_gene': 'SF3B4', 'score': 10.15}, {'connected_gene': 'HIST2H2AC', 'score': 9.55}, {'connected_gene': 'HIST2H2BE', 'score': 9.55}, {'connected_gene': 'BOLA1', 'score': 9.55}, {'connected_gene': 'PIR49087', 'score': 0.25}]
chr1 GH01I149999 149999022 149999081 0.7 [{'connected_gene': 'OTUD7B', 'score': 550.39}, {'connected_gene': 'MTMR11', 'score': 11.08}, {'connected_gene': 'HIST2H2AC', 'score': 10.35}, {'connected_gene': 'HIST2H2AB', 'score': 10.35}, {'connected_gene': 'HIST2H2BE', 'score': 10.35}, {'connected_gene': 'BOLA1', 'score': 10.35}, {'connected_gene': 'PLEKHO1', 'score': 10.22}, {'connected_gene': 'PIR49087', 'score': 0.22}]
chr1 GH01I149985 149985700 149987828 1.1 [{'connected_gene': 'OTUD7B', 'score': 12.25}, {'connected_gene': 'MTMR11', 'score': 11.3}, {'connected_gene': 'SF3B4', 'score': 11.05}, {'connected_gene': 'SV2A', 'score': 10.84}, {'connected_gene': 'HIST2H2AC', 'score': 10.22}, {'connected_gene': 'BOLA1', 'score': 10.22}, {'connected_gene': 'HIST2H2BE', 'score': 10.21}, {'connected_gene': 'PIR49087', 'score': 0.25}]
chr1 GH01I149978 149978726 149978795 0.94 [{'connected_gene': 'OTUD7B', 'score': 0.29}, {'connected_gene': 'PIR49087', 'score': 0.28}]
chr1 GH01I150089 150089801 150091000 0.49 [{'connected_gene': 'PLEKHO1', 'score': 12.1}, {'connected_gene': 'VPS45', 'score': 11.37}, {'connected_gene': 'OTUD7B', 'score': 11.27}, {'connected_gene': 'MTMR11', 'score': 10.63}, {'connected_gene': 'RPRD2', 'score': 4.99}, {'connected_gene': 'LOC105371427', 'score': 0.34}, {'connected_gene': 'GC01P150114', 'score': 0.34}]
chr1 GH01I149995 149995975 149996204 0.8 [{'connected_gene': 'VPS45', 'score': 11.26}, {'connected_gene': 'MTMR11', 'score': 11.0}, {'connected_gene': 'PLEKHO1', 'score': 10.89}, {'connected_gene': 'OTUD7B', 'score': 0.39}, {'connected_gene': 'PIR49087', 'score': 0.22}]
chr1 GH01I149934 149934662 149940981 2.26 [{'connected_gene': 'MTMR11', 'score': 559.73}, {'connected_gene': 'PIR49087', 'score': 550.77}, {'connected_gene': 'SV2A', 'score': 19.06}, {'connected_gene': 'ARNT', 'score': 18.44}, {'connected_gene': 'PRPF3', 'score': 18.06}, {'connected_gene': 'SETDB1', 'score': 17.37}, {'connected_gene': 'SF3B4', 'score': 13.8}, {'connected_gene': 'GOLPH3L', 'score': 13.14}, {'connected_gene': 'UBE2D3P3', 'score': 12.99}, {'connected_gene': 'CTSK', 'score': 12.04}, {'connected_gene': 'RPRD2', 'score': 10.97}, {'connected_gene': 'HIST2H2BD', 'score': 10.36}, {'connected_gene': 'HORMAD1', 'score': 4.39}, {'connected_gene': 'ENSG00000261716', 'score': 3.95}, {'connected_gene': 'OTUD7B', 'score': 0.19}]
chr1 GH01I150006 150006494 150008145 1.17 [{'connected_gene': 'MTMR11', 'score': 18.88}, {'connected_gene': 'SF3B4', 'score': 10.59}, {'connected_gene': 'OTUD7B', 'score': 8.67}, {'connected_gene': 'SV2A', 'score': 3.9}, {'connected_gene': 'CA14', 'score': 2.07}, {'connected_gene': 'PIR49087', 'score': 0.2}]
chr1 GH01I149961 149961637 149962591 0.79 [{'connected_gene': 'MTMR11', 'score': 12.07}, {'connected_gene': 'SF3B4', 'score': 11.13}, {'connected_gene': 'OTUD7B', 'score': 11.12}, {'connected_gene': 'SV2A', 'score': 11.1}, {'connected_gene': 'VPS45', 'score': 11.08}, {'connected_gene': 'BOLA1', 'score': 11.02}, {'connected_gene': 'HIST2H2AC', 'score': 11.01}, {'connected_gene': 'HIST2H2BE', 'score': 11.01}, {'connected_gene': 'HIST2H2AB', 'score': 10.94}, {'connected_gene': 'PLEKHO1', 'score': 10.9}, {'connected_gene': 'CA14', 'score': 9.16}, {'connected_gene': 'C1orf54', 'score': 3.83}, {'connected_gene': 'PIR49087', 'score': 0.34}]
chr1 GH01I149979 149979924 149981007 0.69 [{'connected_gene': 'MTMR11', 'score': 11.87}, {'connected_gene': 'SF3B4', 'score': 11.28}, {'connected_gene': 'OTUD7B', 'score': 0.29}, {'connected_gene': 'PIR49087', 'score': 0.26}]
chr1 GH01I149942 149942001 149942600 0.82 [{'connected_gene': 'PIR49087', 'score': 0.77}, {'connected_gene': 'OTUD7B', 'score': 0.2}]
chr1 GH01I149943 149942689 149944467 0.54 [{'connected_gene': 'PIR49087', 'score': 0.77}, {'connected_gene': 'OTUD7B', 'score': 0.2}]

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