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
ENST00000381418 [[21971927, 21973275], [21973812, 21973941], [21974387, 21974552], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986723], [21987940, 21989381]] [[21973212, 21973275], [21973812, 21973941], [21974387, 21974552], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986683]]
ENST00000312841 [[21971931, 21973275], [21973812, 21973941], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986723], [21987940, 21988565]] [[21973212, 21973275], [21973812, 21973941], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986683]]
ENST00000522016 [[21972581, 21973275], [21973812, 21973941], [21974387, 21975958]] None
ENST00000522039 [[21976244, 21976578], [21976676, 21976796], [21977272, 21977381]] None
ENST00000517699 [[21977631, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980302, 21980364]] [[21977631, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978613]]
ENST00000518461 [[21978355, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980203]] None
ENST00000519619 [[21984998, 21985342], [21985451, 21985629]] None
ENST00000522759 [[21985598, 21986723], [21987940, 21988194]] None
ENST00000518377 [[21987983, 21988565], [21990775, 21990897]] None
NM_005144 [[21971931, 21973275], [21973812, 21973941], [21974387, 21974552], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986723], [21987940, 21988565]] [[21973212, 21973275], [21973812, 21973941], [21974387, 21974552], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986683]]
NM_018411 [[21971931, 21973275], [21973812, 21973941], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986723], [21987940, 21988565]] [[21973212, 21973275], [21973812, 21973941], [21976462, 21976578], [21976676, 21976796], [21977272, 21977403], [21977616, 21977686], [21977854, 21978020], [21978228, 21978471], [21978577, 21978741], [21979125, 21979207], [21980005, 21980121], [21980302, 21980392], [21981161, 21981326], [21982823, 21983017], [21983094, 21983245], [21984549, 21985342], [21986071, 21986683]]
Promoter
Chrom Start End Description
chr8 21988516 21988534 CAGE_peak_1_at_HR_5end
chr8 21988558 21988566 CAGE_peak_5_at_HR_5end
chr8 21988570 21988581 CAGE_peak_4_at_HR_5end
chr8 21988673 21988692 CAGE_peak_3_at_HR_5end
chr8 21988837 21988848 CAGE_peak_6_at_HR_5end
chr8 21990835 21990846 CAGE_peak_7_at_HR_5end
chr8 21990868 21990906 CAGE_peak_2_at_HR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I021907 21907528 21915376 2.11 [{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'FGF17', 'score': 17.44}, {'connected_gene': 'NPM2', 'score': 11.35}, {'connected_gene': 'HR', 'score': 11.35}, {'connected_gene': 'GFRA2', 'score': 7.15}, {'connected_gene': 'GC08M021903', 'score': 0.44}]
chr8 GH08I022136 22136968 22137998 1.14 [{'connected_gene': 'REEP4', 'score': 11.13}, {'connected_gene': 'HR', 'score': 0.77}]
chr8 GH08I022138 22138506 22143093 2.27 [{'connected_gene': 'REEP4', 'score': 558.62}, {'connected_gene': 'ENSG00000253200', 'score': 17.51}, {'connected_gene': 'C8orf58', 'score': 15.78}, {'connected_gene': 'CCAR2', 'score': 12.64}, {'connected_gene': 'FAM160B2', 'score': 11.3}, {'connected_gene': 'POLR3D', 'score': 10.43}, {'connected_gene': 'BIN3', 'score': 10.19}, {'connected_gene': 'SORBS3', 'score': 5.2}, {'connected_gene': 'HR', 'score': 0.44}]
chr8 GH08I022117 22117420 22118506 0.64 [{'connected_gene': 'NUDT18', 'score': 22.14}, {'connected_gene': 'GC08M022111', 'score': 0.77}, {'connected_gene': 'HR', 'score': 0.37}]
chr8 GH08I022047 22047891 22049401 1.39 [{'connected_gene': 'DMTN', 'score': 579.92}, {'connected_gene': 'CCAR2', 'score': 21.49}, {'connected_gene': 'ENSG00000253200', 'score': 18.03}, {'connected_gene': 'FAM160B2', 'score': 15.63}, {'connected_gene': 'POLR3D', 'score': 14.76}, {'connected_gene': 'C8orf58', 'score': 12.52}, {'connected_gene': 'XPO7', 'score': 11.0}, {'connected_gene': 'SORBS3', 'score': 10.08}, {'connected_gene': 'ENSG00000251034', 'score': 9.94}, {'connected_gene': 'HR', 'score': 5.42}, {'connected_gene': 'FGF17', 'score': 0.44}]
chr8 GH08I022053 22053237 22057273 1.66 [{'connected_gene': 'DMTN', 'score': 562.14}, {'connected_gene': 'ENSG00000253200', 'score': 17.49}, {'connected_gene': 'C8orf58', 'score': 15.77}, {'connected_gene': 'CCAR2', 'score': 12.63}, {'connected_gene': 'FAM160B2', 'score': 11.37}, {'connected_gene': 'POLR3D', 'score': 10.52}, {'connected_gene': 'BIN3', 'score': 10.19}, {'connected_gene': 'HR', 'score': 7.41}, {'connected_gene': 'GC08M022066', 'score': 0.37}]
chr8 GH08I022129 22129290 22133977 1.84 [{'connected_gene': 'HR', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 17.05}, {'connected_gene': 'FAM160B2', 'score': 14.24}, {'connected_gene': 'C8orf58', 'score': 13.67}, {'connected_gene': 'BIN3', 'score': 13.55}, {'connected_gene': 'LOC107986927', 'score': 13.12}, {'connected_gene': 'XPO7', 'score': 10.95}, {'connected_gene': 'NUDT18', 'score': 10.66}, {'connected_gene': 'CCAR2', 'score': 10.1}, {'connected_gene': 'GC08M022111', 'score': 0.37}]
chr8 GH08I022124 22124628 22124777 0.2 [{'connected_gene': 'HR', 'score': 0.44}, {'connected_gene': 'GC08M022111', 'score': 0.39}]

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