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
ENST00000383659 [[122458845, 122459722], [122459849, 122459960], [122471437, 122471521], [122474106, 122474278], [122477618, 122477700], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512650]] [[122474251, 122474278], [122477618, 122477700], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512527]]
ENST00000471534 [[122458849, 122459722], [122459849, 122460623]] None
ENST00000306103 [[122458849, 122459722], [122459849, 122459960], [122471437, 122471521], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512671]] [[122459191, 122459722], [122459849, 122459960], [122471437, 122471521], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512527]]
ENST00000465044 [[122471707, 122473918], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512561]] None
ENST00000467643 [[122474170, 122474278], [122477618, 122477700], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512606]] None
ENST00000478601 [[122478066, 122478207], [122487547, 122487729], [122496567, 122496753], [122505255, 122505337], [122512463, 122512507]] None
ENST00000463266 [[122480380, 122480819], [122487547, 122487589]] None
NM_024610 [[122458843, 122459722], [122459849, 122459960], [122471437, 122471521], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512666]] [[122459191, 122459722], [122459849, 122459960], [122471437, 122471521], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512527]]
NM_001320728 [[122458843, 122459722], [122459849, 122459960], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512674]] [[122459191, 122459722], [122459849, 122459960], [122474106, 122474278], [122478070, 122478207], [122487547, 122487729], [122496567, 122496753], [122512463, 122512527]]
Promoter
Chrom Start End Description
chr3 122512540 122512566 CAGE_peak_2_at_HSPBAP1_5end
chr3 122512619 122512690 CAGE_peak_1_at_HSPBAP1_5end
chr3 122512974 122512998 CAGE_peak_4_at_HSPBAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I122825 122825194 122825343 0.91 [{'connected_gene': 'IQCB1', 'score': 12.64}, {'connected_gene': 'HSPBAP1', 'score': 11.24}, {'connected_gene': 'DIRC2', 'score': 11.24}, {'connected_gene': 'ENSG00000273454', 'score': 10.53}, {'connected_gene': 'LOC102723582', 'score': 9.96}, {'connected_gene': 'MYLK-AS1', 'score': 4.33}, {'connected_gene': 'GC03P122849', 'score': 0.34}]
chr3 GH03I122797 122797371 122797589 0.45 [{'connected_gene': 'DIRC2', 'score': 11.83}, {'connected_gene': 'HSPBAP1', 'score': 10.39}, {'connected_gene': 'PARP14', 'score': 6.47}, {'connected_gene': 'PARP9', 'score': 5.4}, {'connected_gene': 'DTX3L', 'score': 5.33}, {'connected_gene': 'CSTA', 'score': 3.05}, {'connected_gene': 'KPNA1', 'score': 1.5}, {'connected_gene': 'GC03P122849', 'score': 0.23}]
chr3 GH03I122766 122766442 122770200 1.02 [{'connected_gene': 'DIRC2', 'score': 50.68}, {'connected_gene': 'HSPBAP1', 'score': 42.84}, {'connected_gene': 'PARP14', 'score': 31.06}, {'connected_gene': 'PARP9', 'score': 10.84}, {'connected_gene': 'DTX3L', 'score': 10.42}, {'connected_gene': 'LINC02035', 'score': 9.09}, {'connected_gene': 'CSTA', 'score': 3.95}, {'connected_gene': 'KPNA1', 'score': 3.36}]
chr3 GH03I122746 122746149 122746313 0.34 [{'connected_gene': 'DIRC2', 'score': 12.25}, {'connected_gene': 'HSPBAP1', 'score': 11.84}, {'connected_gene': 'DTX3L', 'score': 9.71}, {'connected_gene': 'PARP14', 'score': 8.2}, {'connected_gene': 'PARP9', 'score': 7.57}]
chr3 GH03I122245 122245528 122248308 1.08 [{'connected_gene': 'CASR', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 6.64}, {'connected_gene': 'PARP9', 'score': 5.19}, {'connected_gene': 'IQCB1', 'score': 4.61}, {'connected_gene': 'HSPBAP1', 'score': 4.52}, {'connected_gene': 'CD86', 'score': 4.16}, {'connected_gene': 'DTX3L', 'score': 3.63}, {'connected_gene': 'KPNA1', 'score': 3.14}, {'connected_gene': 'CSTA', 'score': 2.94}, {'connected_gene': 'GOLGB1', 'score': 1.44}, {'connected_gene': 'EAF2', 'score': 1.11}, {'connected_gene': 'HNRNPA1P23', 'score': 0.19}]
chr3 GH03I122792 122792480 122796371 2.27 [{'connected_gene': 'HSPBAP1', 'score': 558.98}, {'connected_gene': 'DIRC2', 'score': 558.07}, {'connected_gene': 'ENSG00000273454', 'score': 24.14}, {'connected_gene': 'IQCB1', 'score': 23.0}, {'connected_gene': 'PARP14', 'score': 13.75}, {'connected_gene': 'SEC22A', 'score': 13.35}, {'connected_gene': 'LOC102723582', 'score': 11.3}, {'connected_gene': 'LINC02035', 'score': 9.31}]
chr3 GH03I122689 122689125 122691838 1.03 [{'connected_gene': 'HSPBAP1', 'score': 18.33}, {'connected_gene': 'DIRC2', 'score': 17.4}, {'connected_gene': 'PARP14', 'score': 15.3}, {'connected_gene': 'LINC02035', 'score': 5.44}]
chr3 GH03I122754 122754982 122755609 0.63 [{'connected_gene': 'HSPBAP1', 'score': 23.1}, {'connected_gene': 'DIRC2', 'score': 18.83}, {'connected_gene': 'PARP14', 'score': 10.19}]
chr3 GH03I122694 122694677 122695213 0.8 [{'connected_gene': 'HSPBAP1', 'score': 16.64}, {'connected_gene': 'DIRC2', 'score': 10.13}, {'connected_gene': 'LINC02035', 'score': 6.78}, {'connected_gene': 'PARP14', 'score': 0.39}]
chr3 GH03I122758 122758601 122760307 0.78 [{'connected_gene': 'HSPBAP1', 'score': 22.86}, {'connected_gene': 'DIRC2', 'score': 17.89}, {'connected_gene': 'LINC02035', 'score': 9.12}, {'connected_gene': 'PARP14', 'score': 6.39}]
chr3 GH03I122879 122879793 122881556 0.38 [{'connected_gene': 'HSPBAP1', 'score': 18.52}, {'connected_gene': 'DIRC2', 'score': 10.61}, {'connected_gene': 'LINC02035', 'score': 7.86}, {'connected_gene': 'GC03P122849', 'score': 0.29}]
chr3 GH03I122744 122744830 122746099 0.79 [{'connected_gene': 'HSPBAP1', 'score': 11.37}, {'connected_gene': 'PARP14', 'score': 9.82}, {'connected_gene': 'DIRC2', 'score': 0.25}]
chr3 GH03I122760 122760565 122762400 1.03 [{'connected_gene': 'HSPBAP1', 'score': 11.76}, {'connected_gene': 'PARP14', 'score': 10.92}, {'connected_gene': 'DIRC2', 'score': 7.54}]
chr3 GH03I122697 122697634 122698909 0.66 [{'connected_gene': 'HSPBAP1', 'score': 21.18}, {'connected_gene': 'PARP14', 'score': 11.78}, {'connected_gene': 'DIRC2', 'score': 10.13}]
chr3 GH03I122788 122788401 122790742 0.86 [{'connected_gene': 'HSPBAP1', 'score': 13.81}, {'connected_gene': 'PARP14', 'score': 10.72}, {'connected_gene': 'LINC02035', 'score': 9.42}, {'connected_gene': 'DIRC2', 'score': 0.44}]
chr3 GH03I122673 122673077 122676668 0.2 [{'connected_gene': 'HSPBAP1', 'score': 9.11}, {'connected_gene': 'PARP14', 'score': 6.28}, {'connected_gene': 'LINC02035', 'score': 5.41}, {'connected_gene': 'EIF4BP8', 'score': 0.39}]
chr3 GH03I122938 122938518 122939840 0.66 [{'connected_gene': 'HSPBAP1', 'score': 4.54}, {'connected_gene': 'SEMA5B', 'score': 4.37}, {'connected_gene': 'GC03P122991', 'score': 0.23}, {'connected_gene': 'LINC02035', 'score': 0.23}]
chr3 GH03I122770 122770401 122770912 0.68 [{'connected_gene': 'PARP14', 'score': 22.63}, {'connected_gene': 'DIRC2', 'score': 16.31}, {'connected_gene': 'HSPBAP1', 'score': 15.29}, {'connected_gene': 'PARP9', 'score': 6.36}, {'connected_gene': 'DTX3L', 'score': 6.22}, {'connected_gene': 'CSTA', 'score': 3.36}, {'connected_gene': 'KPNA1', 'score': 1.51}]
chr3 GH03I123154 123154440 123154641 0.28 [{'connected_gene': 'PARP14', 'score': 9.36}, {'connected_gene': 'DIRC2', 'score': 2.63}, {'connected_gene': 'HSPBAP1', 'score': 1.92}, {'connected_gene': 'MIR7110', 'score': 0.44}, {'connected_gene': 'GC03P123071', 'score': 0.18}, {'connected_gene': 'PDIA5', 'score': 0.17}]
chr3 GH03I122712 122712540 122724640 0.52 [{'connected_gene': 'PARP14', 'score': 32.85}, {'connected_gene': 'HSPBAP1', 'score': 21.77}, {'connected_gene': 'DIRC2', 'score': 18.14}, {'connected_gene': 'LINC02035', 'score': 9.05}]
chr3 GH03I122784 122784021 122786841 0.51 [{'connected_gene': 'PARP14', 'score': 10.73}, {'connected_gene': 'HSPBAP1', 'score': 10.38}, {'connected_gene': 'DIRC2', 'score': 7.68}]
chr3 GH03I122773 122773247 122775034 1.36 [{'connected_gene': 'PARP14', 'score': 18.67}, {'connected_gene': 'HSPBAP1', 'score': 13.22}, {'connected_gene': 'DTX3L', 'score': 11.67}, {'connected_gene': 'PARP9', 'score': 10.13}, {'connected_gene': 'DIRC2', 'score': 9.87}, {'connected_gene': 'CSTA', 'score': 3.04}, {'connected_gene': 'KPNA1', 'score': 1.87}]
chr3 GH03I122725 122725271 122732892 0.71 [{'connected_gene': 'PARP14', 'score': 21.87}, {'connected_gene': 'HSPBAP1', 'score': 11.25}, {'connected_gene': 'LINC02035', 'score': 8.96}, {'connected_gene': 'DIRC2', 'score': 7.67}]
chr3 GH03I122798 122798887 122801731 0.43 [{'connected_gene': 'PARP14', 'score': 13.74}, {'connected_gene': 'HSPBAP1', 'score': 11.71}, {'connected_gene': 'LINC02035', 'score': 8.76}, {'connected_gene': 'DIRC2', 'score': 0.44}, {'connected_gene': 'GC03P122849', 'score': 0.25}]
chr3 GH03I122678 122678325 122684270 2.66 [{'connected_gene': 'PARP14', 'score': 574.37}, {'connected_gene': 'DTX3L', 'score': 18.81}, {'connected_gene': 'PARP9', 'score': 14.59}, {'connected_gene': 'HSPBAP1', 'score': 9.8}, {'connected_gene': 'DIRC2', 'score': 8.06}, {'connected_gene': 'LINC02035', 'score': 5.29}, {'connected_gene': 'CSTA', 'score': 3.1}, {'connected_gene': 'KPNA1', 'score': 1.46}]
chr3 GH03I122940 122940318 122941345 0.66 [{'connected_gene': 'SEMA5B', 'score': 5.43}, {'connected_gene': 'HSPBAP1', 'score': 4.85}, {'connected_gene': 'GC03P122991', 'score': 0.23}, {'connected_gene': 'LINC02035', 'score': 0.23}]
chr3 GH03I122931 122931026 122935098 0.64 [{'connected_gene': 'SEMA5B', 'score': 18.97}, {'connected_gene': 'PARP14', 'score': 7.56}, {'connected_gene': 'HSPBAP1', 'score': 6.25}, {'connected_gene': 'DIRC2', 'score': 5.31}, {'connected_gene': 'LINC02035', 'score': 0.25}, {'connected_gene': 'GC03P122991', 'score': 0.22}]
chr3 GH03I122892 122892908 122894570 0.83 [{'connected_gene': 'SEMA5B', 'score': 10.53}, {'connected_gene': 'LINC02035', 'score': 7.37}, {'connected_gene': 'PARP14', 'score': 6.93}, {'connected_gene': 'HSPBAP1', 'score': 6.8}, {'connected_gene': 'DIRC2', 'score': 4.34}, {'connected_gene': 'GC03P122991', 'score': 0.15}]
chr3 GH03I122575 122575229 122579662 2.26 [{'connected_gene': 'PARP15', 'score': 570.05}, {'connected_gene': 'GOLGB1', 'score': 11.32}, {'connected_gene': 'SEC22A', 'score': 10.35}, {'connected_gene': 'LOC102723582', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 3.44}, {'connected_gene': 'DIRC2', 'score': 2.58}, {'connected_gene': 'PARP9', 'score': 2.27}, {'connected_gene': 'DTX3L', 'score': 1.91}, {'connected_gene': 'HSPBAP1', 'score': 1.52}, {'connected_gene': 'CD86', 'score': 1.11}]
chr3 GH03I122313 122313907 122315436 0.88 [{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3 GH03I122294 122294401 122295800 0.96 [{'connected_gene': 'CSTA', 'score': 13.0}, {'connected_gene': 'WDR5B', 'score': 9.62}, {'connected_gene': 'LOC102723582', 'score': 8.48}, {'connected_gene': 'PARP14', 'score': 4.34}, {'connected_gene': 'PARP9', 'score': 2.72}, {'connected_gene': 'CD86', 'score': 2.61}, {'connected_gene': 'DIRC2', 'score': 2.57}, {'connected_gene': 'DTX3L', 'score': 2.46}, {'connected_gene': 'HSPBAP1', 'score': 1.96}, {'connected_gene': 'HNRNPA1P23', 'score': 0.34}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I123415 123415869 123417773 0.52 [{'connected_gene': 'ADCY5', 'score': 11.87}, {'connected_gene': 'HSPBAP1', 'score': 4.4}, {'connected_gene': 'GC03P123375', 'score': 0.26}]
chr3 GH03I123397 123397654 123399410 0.31 [{'connected_gene': 'ADCY5', 'score': 18.07}, {'connected_gene': 'HSPBAP1', 'score': 4.42}, {'connected_gene': 'GC03P123375', 'score': 0.34}]
chr3 GH03I123409 123408608 123415818 1.47 [{'connected_gene': 'ADCY5', 'score': 28.18}, {'connected_gene': 'SEC22A', 'score': 6.11}, {'connected_gene': 'HSPBAP1', 'score': 4.42}, {'connected_gene': 'MYLK', 'score': 1.58}, {'connected_gene': 'GC03P123375', 'score': 0.28}]

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