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
ENST00000388962 [[109015685, 109017663], [109017693, 109018088], [109027515, 109027670]] [[109016844, 109017663], [109017693, 109018083]]
ENST00000550948 [[109016052, 109018088], [109027515, 109027735]] [[109016844, 109018083]]
ENST00000228463 [[109016604, 109018088], [109025634, 109025854]] [[109016844, 109018088], [109025634, 109025677]]
NM_001206609 [[109015670, 109018088], [109025634, 109025854]] [[109016844, 109018088], [109025634, 109025677]]
NM_003006 [[109015670, 109018088], [109027515, 109027670]] [[109016844, 109018083]]
Promoter
Chrom Start End Description
chr12 109025849 109025863 CAGE_peak_4_at_SELPLG_5end
chr12 109027545 109027622 CAGE_peak_1_at_SELPLG_5end
chr12 109027626 109027638 CAGE_peak_3_at_SELPLG_5end
chr12 109027643 109027677 CAGE_peak_2_at_SELPLG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I108330 108330626 108336644 1.54 [{'connected_gene': 'SART3', 'score': 11.86}, {'connected_gene': 'SELPLG', 'score': 1.25}, {'connected_gene': 'GC12M108318', 'score': 0.77}, {'connected_gene': 'CMKLR1', 'score': 0.44}]
chr12 GH12I108587 108587825 108590207 0.59 [{'connected_gene': 'SELPLG', 'score': 10.63}, {'connected_gene': 'TMEM119', 'score': 6.7}, {'connected_gene': 'GC12M108565', 'score': 0.37}, {'connected_gene': 'ISCU', 'score': 0.31}]
chr12 GH12I108609 108609205 108610567 1.03 [{'connected_gene': 'SELPLG', 'score': 12.83}, {'connected_gene': 'FICD', 'score': 10.67}, {'connected_gene': 'LINC01498', 'score': 10.64}, {'connected_gene': 'ISCU', 'score': 6.15}, {'connected_gene': 'GC12M108565', 'score': 0.77}, {'connected_gene': 'LOC105369968', 'score': 0.37}]
chr12 GH12I108626 108626747 108650980 2.81 [{'connected_gene': 'SELPLG', 'score': 561.83}, {'connected_gene': 'PWP1', 'score': 46.82}, {'connected_gene': 'SART3', 'score': 38.69}, {'connected_gene': 'PRDM4', 'score': 20.42}, {'connected_gene': 'UBE3B', 'score': 20.14}, {'connected_gene': 'RNU4-32P', 'score': 19.44}, {'connected_gene': 'CORO1C', 'score': 17.53}, {'connected_gene': 'FICD', 'score': 15.49}, {'connected_gene': 'LOC101929162', 'score': 15.2}, {'connected_gene': 'TMEM119', 'score': 11.32}, {'connected_gene': 'RNU7-169P', 'score': 10.97}, {'connected_gene': 'LINC01498', 'score': 10.47}, {'connected_gene': 'ALKBH2', 'score': 10.34}, {'connected_gene': 'ENSG00000257221', 'score': 8.22}, {'connected_gene': 'FOXN4', 'score': 5.63}, {'connected_gene': 'MVK', 'score': 5.5}, {'connected_gene': 'ACACB', 'score': 4.69}, {'connected_gene': 'ISCU', 'score': 4.63}, {'connected_gene': 'SSH1', 'score': 1.87}, {'connected_gene': 'MIR4496', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.44}, {'connected_gene': 'GC12P108633', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12 GH12I108720 108720689 108726157 1.38 [{'connected_gene': 'SELPLG', 'score': 12.21}, {'connected_gene': 'RNU7-169P', 'score': 11.03}, {'connected_gene': 'ENSG00000257221', 'score': 7.66}, {'connected_gene': 'MVK', 'score': 5.53}, {'connected_gene': 'CORO1C', 'score': 4.92}, {'connected_gene': 'SSH1', 'score': 4.51}, {'connected_gene': 'GC12M108717', 'score': 0.77}, {'connected_gene': 'GC12P108720', 'score': 0.77}]
chr12 GH12I108820 108820021 108843400 2.34 [{'connected_gene': 'SSH1', 'score': 569.54}, {'connected_gene': 'SART3', 'score': 42.53}, {'connected_gene': 'CORO1C', 'score': 18.08}, {'connected_gene': 'SELPLG', 'score': 13.22}, {'connected_gene': 'ALKBH2', 'score': 10.04}, {'connected_gene': 'UBE3B', 'score': 9.76}, {'connected_gene': 'ACACB', 'score': 5.45}, {'connected_gene': 'CMKLR1', 'score': 4.83}, {'connected_gene': 'FICD', 'score': 1.21}, {'connected_gene': 'ENSG00000274598', 'score': 0.77}, {'connected_gene': 'MIR619', 'score': 0.44}, {'connected_gene': 'LOC101929204', 'score': 0.31}]
chr12 GH12I108849 108849602 108859156 2.82 [{'connected_gene': 'SSH1', 'score': 556.94}, {'connected_gene': 'SART3', 'score': 14.83}, {'connected_gene': 'ALKBH2', 'score': 10.36}, {'connected_gene': 'UBE3B', 'score': 10.34}, {'connected_gene': 'CORO1C', 'score': 7.51}, {'connected_gene': 'ENSG00000257221', 'score': 5.74}, {'connected_gene': 'SELPLG', 'score': 2.23}, {'connected_gene': 'DAO', 'score': 0.77}, {'connected_gene': 'MIR619', 'score': 0.37}]
chr12 GH12I108808 108808073 108809025 0.38 [{'connected_gene': 'SSH1', 'score': 11.65}, {'connected_gene': 'MIR619', 'score': 11.57}, {'connected_gene': 'CORO1C', 'score': 11.0}, {'connected_gene': 'SELPLG', 'score': 10.91}, {'connected_gene': 'RNU7-169P', 'score': 10.91}, {'connected_gene': 'TMEM119', 'score': 9.98}, {'connected_gene': 'LOC101929204', 'score': 0.44}, {'connected_gene': 'ENSG00000274598', 'score': 0.31}]
chr12 GH12I108903 108903376 108904201 0.7 [{'connected_gene': 'SSH1', 'score': 4.32}, {'connected_gene': 'CORO1C', 'score': 2.04}, {'connected_gene': 'SELPLG', 'score': 1.31}, {'connected_gene': 'GC12M108908', 'score': 0.44}, {'connected_gene': 'GC12M108869', 'score': 0.28}, {'connected_gene': 'PIR41002', 'score': 0.28}]
chr12 GH12I108615 108615708 108619102 1.6 [{'connected_gene': 'TMEM119', 'score': 14.77}, {'connected_gene': 'SELPLG', 'score': 6.43}, {'connected_gene': 'CMKLR1', 'score': 4.16}, {'connected_gene': 'USP30', 'score': 1.61}, {'connected_gene': 'SSH1', 'score': 1.47}, {'connected_gene': 'GC12M108565', 'score': 0.39}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12 GH12I108624 108624914 108626287 0.31 [{'connected_gene': 'TMEM119', 'score': 12.04}, {'connected_gene': 'CORO1C', 'score': 10.68}, {'connected_gene': 'RNU7-169P', 'score': 10.21}, {'connected_gene': 'LOC105369968', 'score': 0.77}, {'connected_gene': 'SELPLG', 'score': 0.44}, {'connected_gene': 'GC12M108565', 'score': 0.34}]
chr12 GH12I108619 108619381 108623957 1.27 [{'connected_gene': 'TMEM119', 'score': 26.99}, {'connected_gene': 'CORO1C', 'score': 10.51}, {'connected_gene': 'LOC105369968', 'score': 0.44}, {'connected_gene': 'SELPLG', 'score': 0.39}, {'connected_gene': 'GC12M108565', 'score': 0.37}]
chr12 GH12I108663 108663111 108668922 1.67 [{'connected_gene': 'CORO1C', 'score': 19.22}, {'connected_gene': 'SELPLG', 'score': 12.91}, {'connected_gene': 'SSH1', 'score': 12.74}, {'connected_gene': 'SART3', 'score': 11.51}, {'connected_gene': 'ISCU', 'score': 11.51}, {'connected_gene': 'ENSG00000257221', 'score': 8.06}, {'connected_gene': 'MVK', 'score': 5.53}, {'connected_gene': 'ACACB', 'score': 4.88}, {'connected_gene': 'RNU7-169P', 'score': 0.77}, {'connected_gene': 'GC12P108669', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.34}]
chr12 GH12I108790 108790464 108791815 0.2 [{'connected_gene': 'CORO1C', 'score': 17.82}, {'connected_gene': 'SELPLG', 'score': 10.82}, {'connected_gene': 'PIR53281', 'score': 0.77}, {'connected_gene': 'LOC101929204', 'score': 0.39}, {'connected_gene': 'SSH1', 'score': 0.2}]
chr12 GH12I108792 108792404 108793250 0.38 [{'connected_gene': 'CORO1C', 'score': 11.7}, {'connected_gene': 'SELPLG', 'score': 10.82}, {'connected_gene': 'LOC101929204', 'score': 0.44}, {'connected_gene': 'PIR53281', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.21}]
chr12 GH12I108793 108793360 108794827 0.83 [{'connected_gene': 'CORO1C', 'score': 18.33}, {'connected_gene': 'SELPLG', 'score': 10.82}, {'connected_gene': 'LOC101929204', 'score': 0.44}, {'connected_gene': 'PIR53281', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.21}]
chr12 GH12I108726 108726440 108735770 2.31 [{'connected_gene': 'CORO1C', 'score': 560.11}, {'connected_gene': 'LOC101929162', 'score': 21.77}, {'connected_gene': 'RNU4-32P', 'score': 19.39}, {'connected_gene': 'RNU7-169P', 'score': 11.01}, {'connected_gene': 'SSH1', 'score': 10.68}, {'connected_gene': 'SART3', 'score': 10.58}, {'connected_gene': 'SELPLG', 'score': 10.4}, {'connected_gene': 'UBE3B', 'score': 10.07}, {'connected_gene': 'PRDM4', 'score': 10.04}, {'connected_gene': 'ENSG00000257221', 'score': 8.16}, {'connected_gene': 'ACACB', 'score': 5.48}, {'connected_gene': 'FOXN4', 'score': 4.45}, {'connected_gene': 'LOC105369969', 'score': 0.77}, {'connected_gene': 'GC12M108717', 'score': 0.39}]
chr12 GH12I108482 108482294 108484383 1.34 [{'connected_gene': 'ISCU', 'score': 5.34}, {'connected_gene': 'FICD', 'score': 4.61}, {'connected_gene': 'SELPLG', 'score': 2.59}, {'connected_gene': 'SSH1', 'score': 2.08}, {'connected_gene': 'LINC01498', 'score': 0.44}, {'connected_gene': 'PIR53896', 'score': 0.26}]
chr12 GH12I108301 108301778 108309474 1.52 [{'connected_gene': 'CMKLR1', 'score': 16.99}, {'connected_gene': 'SART3', 'score': 11.38}, {'connected_gene': 'LINC01498', 'score': 10.33}, {'connected_gene': 'FICD', 'score': 10.32}, {'connected_gene': 'ENSG00000257398', 'score': 4.45}, {'connected_gene': 'BTBD11', 'score': 4.36}, {'connected_gene': 'UNG', 'score': 4.34}, {'connected_gene': 'CORO1C', 'score': 2.2}, {'connected_gene': 'SELPLG', 'score': 2.2}, {'connected_gene': 'GC12M108289', 'score': 0.37}, {'connected_gene': 'GC12M108318', 'score': 0.31}]
chr12 GH12I108950 108950853 108951463 1.05 [{'connected_gene': 'RNU6-361P', 'score': 12.59}, {'connected_gene': 'SELPLG', 'score': 10.49}, {'connected_gene': 'LINC01498', 'score': 9.47}, {'connected_gene': 'FICD', 'score': 9.47}, {'connected_gene': 'GC12P108961', 'score': 0.39}, {'connected_gene': 'GC12M108927', 'score': 0.34}, {'connected_gene': 'SVOP', 'score': 0.19}]
chr12 GH12I108955 108955345 108955454 0.72 [{'connected_gene': 'RNU6-361P', 'score': 12.56}, {'connected_gene': 'SELPLG', 'score': 10.49}, {'connected_gene': 'LINC01498', 'score': 9.47}, {'connected_gene': 'FICD', 'score': 9.47}, {'connected_gene': 'GC12P108961', 'score': 0.44}, {'connected_gene': 'GC12M108927', 'score': 0.31}, {'connected_gene': 'SVOP', 'score': 0.2}]
chr12 GH12I108797 108797941 108807914 1.3 [{'connected_gene': 'LOC101929204', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 17.62}, {'connected_gene': 'SSH1', 'score': 11.64}, {'connected_gene': 'MIR619', 'score': 11.55}, {'connected_gene': 'SELPLG', 'score': 10.92}, {'connected_gene': 'RNU7-169P', 'score': 10.91}, {'connected_gene': 'TMEM119', 'score': 9.98}, {'connected_gene': 'ACACB', 'score': 5.82}, {'connected_gene': 'ENSG00000257221', 'score': 5.28}, {'connected_gene': 'ENSG00000274598', 'score': 0.29}]
chr12 GH12I108684 108684834 108698437 1.8 [{'connected_gene': 'LOC101929162', 'score': 25.33}, {'connected_gene': 'CORO1C', 'score': 20.64}, {'connected_gene': 'SART3', 'score': 14.49}, {'connected_gene': 'PRDM4', 'score': 12.36}, {'connected_gene': 'RNU7-169P', 'score': 11.59}, {'connected_gene': 'SELPLG', 'score': 11.16}, {'connected_gene': 'RNU4-32P', 'score': 10.85}, {'connected_gene': 'ALKBH2', 'score': 10.65}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'ENSG00000257221', 'score': 8.09}, {'connected_gene': 'MVK', 'score': 5.53}, {'connected_gene': 'SSH1', 'score': 2.24}, {'connected_gene': 'GC12P108678', 'score': 0.39}, {'connected_gene': 'GC12P108720', 'score': 0.31}]
chr12 GH12I108785 108785827 108787457 0.2 [{'connected_gene': 'PIR53281', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 17.81}, {'connected_gene': 'SELPLG', 'score': 10.82}, {'connected_gene': 'GC12M108791', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.19}]
chr12 GH12I108675 108675251 108682662 0.62 [{'connected_gene': 'GC12P108678', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 11.93}, {'connected_gene': 'SELPLG', 'score': 10.64}, {'connected_gene': 'ENSG00000257221', 'score': 7.61}, {'connected_gene': 'MVK', 'score': 5.53}, {'connected_gene': 'ACACB', 'score': 4.88}, {'connected_gene': 'GC12P108720', 'score': 0.26}]
chr12 GH12I108777 108777007 108778530 0.49 [{'connected_gene': 'GC12M108790', 'score': 550.77}, {'connected_gene': 'GC12P108779', 'score': 550.77}, {'connected_gene': 'ENSG00000273499', 'score': 550.77}, {'connected_gene': 'ENSG00000280110', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 18.47}, {'connected_gene': 'SELPLG', 'score': 10.95}, {'connected_gene': 'RNU7-169P', 'score': 10.71}, {'connected_gene': 'GC12M108791', 'score': 0.77}, {'connected_gene': 'GC12P108772', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.18}]
chr12 GH12I108788 108788157 108789283 0.4 [{'connected_gene': 'PIR53281', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 11.71}, {'connected_gene': 'SELPLG', 'score': 10.82}, {'connected_gene': 'LOC101929204', 'score': 0.39}, {'connected_gene': 'SSH1', 'score': 0.2}]
chr12 GH12I108771 108771559 108775091 1.35 [{'connected_gene': 'GC12P108772', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 19.11}, {'connected_gene': 'RNU7-169P', 'score': 11.39}, {'connected_gene': 'SELPLG', 'score': 11.05}, {'connected_gene': 'GC12M108790', 'score': 0.77}, {'connected_gene': 'ENSG00000273499', 'score': 0.77}]
chr12 GH12I108769 108769991 108771548 0.6 [{'connected_gene': 'GC12M108767', 'score': 550.77}, {'connected_gene': 'GC12P108772', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 16.45}, {'connected_gene': 'RNU7-169P', 'score': 11.39}, {'connected_gene': 'SELPLG', 'score': 11.05}]
chr12 GH12I108768 108768281 108769400 0.93 [{'connected_gene': 'GC12M108767', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 11.93}, {'connected_gene': 'RNU7-169P', 'score': 11.39}, {'connected_gene': 'SELPLG', 'score': 11.05}, {'connected_gene': 'GC12M108756', 'score': 0.44}]
chr12 GH12I108367 108367226 108367948 0.8 [{'connected_gene': 'GC12P108366', 'score': 550.77}, {'connected_gene': 'CMKLR1', 'score': 11.67}, {'connected_gene': 'WSCD2', 'score': 10.73}, {'connected_gene': 'LINC01498', 'score': 10.47}, {'connected_gene': 'FICD', 'score': 10.45}, {'connected_gene': 'SELPLG', 'score': 6.04}, {'connected_gene': 'SSH1', 'score': 4.66}, {'connected_gene': 'CORO1C', 'score': 1.36}, {'connected_gene': 'GC12P108372', 'score': 0.77}]
chr12 GH12I108718 108718292 108719800 0.46 [{'connected_gene': 'GC12M108717', 'score': 550.77}, {'connected_gene': 'GC12P108720', 'score': 550.77}, {'connected_gene': 'RNU7-169P', 'score': 10.62}, {'connected_gene': 'SELPLG', 'score': 10.54}, {'connected_gene': 'CORO1C', 'score': 0.39}, {'connected_gene': 'GC12P108678', 'score': 0.26}]
chr12 GH12I108719 108719801 108720400 0.58 [{'connected_gene': 'GC12M108717', 'score': 550.77}, {'connected_gene': 'GC12P108720', 'score': 550.77}, {'connected_gene': 'RNU7-169P', 'score': 10.55}, {'connected_gene': 'SELPLG', 'score': 10.54}, {'connected_gene': 'ENSG00000257221', 'score': 7.89}, {'connected_gene': 'CORO1C', 'score': 0.39}]

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