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
ENST00000360239 [[109176465, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251359]] [[109181763, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109198831, 109198896]]
ENST00000326495 [[109176469, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251366]] [[109181763, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251272]]
ENST00000546433 [[109178572, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109198831, 109198960], [109200076, 109200170], [109201408, 109201466]] [[109194696, 109194702], [109198831, 109198960], [109200076, 109200170], [109201408, 109201466]]
ENST00000551165 [[109185694, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251366]] [[109185875, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251272]]
ENST00000326470 [[109185701, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109221038, 109221327]] [[109185875, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109221038, 109221181]]
ENST00000547862 [[109201387, 109201603], [109203468, 109203534], [109210813, 109211156]] None
ENST00000548522 [[109201450, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109246413, 109246454], [109251203, 109251289]] [[109212085, 109212089], [109246413, 109246454], [109251203, 109251272]]
ENST00000547381 [[109201568, 109201603], [109203468, 109203534], [109205035, 109205410]] None
ENST00000546697 [[109203494, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109219879, 109220062]] [[109203494, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109219879, 109219941]]
ENST00000546812 [[109205033, 109205104], [109210813, 109210935], [109217033, 109217137], [109219879, 109220170]] None
NM_018984 [[109176465, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251359]] [[109181763, 109183020], [109186061, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251272]]
NM_001161331 [[109185694, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109221038, 109221327]] [[109185875, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109221038, 109221181]]
NM_001161330 [[109185694, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251359]] [[109185875, 109186605], [109192775, 109192976], [109194555, 109194702], [109196097, 109196144], [109198831, 109198960], [109200076, 109200170], [109201408, 109201603], [109203468, 109203534], [109205035, 109205104], [109210813, 109210935], [109212024, 109212089], [109217033, 109217137], [109246413, 109246454], [109251203, 109251272]]
Promoter
Chrom Start End Description
chr12 109219937 109219944 CAGE_peak_14_at_SSH1_5end
chr12 109221160 109221178 CAGE_peak_11_at_SSH1_5end
chr12 109251326 109251337 CAGE_peak_3_at_SSH1_5end
chr12 109251345 109251366 CAGE_peak_1_at_SSH1_5end
chr12 109251373 109251417 CAGE_peak_2_at_SSH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I108843 108843856 108845085 0.31 [{'connected_gene': 'MIR619', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.39}]
chr12 GH12I108845 108845241 108847501 0.89 [{'connected_gene': 'MIR619', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.39}]
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 GH12I108848 108848477 108849521 0.31 [{'connected_gene': 'SSH1', 'score': 0.44}, {'connected_gene': 'MIR619', 'score': 0.39}]
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 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 GH12I108814 108814219 108817288 0.69 [{'connected_gene': 'RNU7-169P', 'score': 10.57}, {'connected_gene': 'ACACB', 'score': 5.55}, {'connected_gene': 'CORO1C', 'score': 4.97}, {'connected_gene': 'LOC101929204', 'score': 0.39}, {'connected_gene': 'ENSG00000274598', 'score': 0.37}, {'connected_gene': 'SSH1', 'score': 0.26}]
chr12 GH12I108810 108810556 108813683 0.38 [{'connected_gene': 'RNU7-169P', 'score': 10.57}, {'connected_gene': 'CORO1C', 'score': 7.46}, {'connected_gene': 'LOC101929204', 'score': 0.44}, {'connected_gene': 'ENSG00000274598', 'score': 0.34}, {'connected_gene': 'SSH1', 'score': 0.25}]
chr12 GH12I108809 108809437 108810240 0.2 [{'connected_gene': 'RNU7-169P', 'score': 10.57}, {'connected_gene': 'ENSG00000257221', 'score': 5.11}, {'connected_gene': 'LOC101929204', 'score': 0.44}, {'connected_gene': 'ENSG00000274598', 'score': 0.34}, {'connected_gene': 'SSH1', 'score': 0.25}]
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 GH12I108786 108785405 108785554 0.51 [{'connected_gene': 'PIR53281', 'score': 550.77}, {'connected_gene': 'GC12M108791', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.19}]
chr12 GH12I108783 108783897 108783932 0.51 [{'connected_gene': 'PIR53281', 'score': 0.77}, {'connected_gene': 'GC12M108791', 'score': 0.77}, {'connected_gene': 'SSH1', 'score': 0.19}]
chr12 GH12I108780 108780505 108780654 0.46 [{'connected_gene': 'GC12P108779', 'score': 550.77}, {'connected_gene': 'ENSG00000280110', 'score': 550.77}, {'connected_gene': 'GC12M108791', 'score': 550.77}, {'connected_gene': 'PIR53281', 'score': 0.44}, {'connected_gene': 'SSH1', 'score': 0.18}]
chr12 GH12I108784 108784365 108785094 0.51 [{'connected_gene': 'PIR53281', 'score': 0.77}, {'connected_gene': 'GC12M108791', 'score': 0.77}, {'connected_gene': 'SSH1', 'score': 0.19}]
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 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 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}]

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