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
ENST00000371493 [[132099515, 132099584], [132099915, 132100111], [132101100, 132101221], [132142757, 132142933]] [[132099515, 132099584], [132099915, 132100082]]
ENST00000378719 [[132086508, 132087873], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132113067]] [[132087707, 132087873], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
ENST00000481030 [[132087150, 132087870], [132096493, 132096563]] None
ENST00000378721 [[132089870, 132090212], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132112930]] [[132090109, 132090212], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
ENST00000296873 [[132091696, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132113113]] [[132094512, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
ENST00000448933 [[132091696, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132113367, 132113561]] [[132094512, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100082]]
ENST00000378706 [[132092024, 132094699], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132113036]] [[132094692, 132094699], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
ENST00000378699 [[132093834, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132113367, 132113586], [132113776, 132113908]] [[132094512, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100082]]
ENST00000378701 [[132093835, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132112953]] [[132094205, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
ENST00000458488 [[132093891, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112912]] [[132094205, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
ENST00000371478 [[132097192, 132097318], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101166]] None
ENST00000453480 [[132098294, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132111426, 132111658]] [[132098294, 132098337], [132099397, 132099578], [132099915, 132100082]]
ENST00000414594 [[132099460, 132099584], [132099915, 132100111], [132101100, 132101221], [132113449, 132113701]] [[132099460, 132099584], [132099915, 132100082]]
ENST00000481794 [[132099652, 132100111], [132101100, 132101221], [132112799, 132112913]] None
ENST00000492490 [[132100082, 132100111], [132101100, 132101221], [132109614, 132109904], [132112799, 132112940]] None
NM_001098811 [[132086508, 132087873], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132113067]] [[132087707, 132087873], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
NM_001300799 [[132091695, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132113067]] [[132094512, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
NM_001300798 [[132091695, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132113067]] [[132094205, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099578], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
NM_015146 [[132091696, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132113067]] [[132094512, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
NM_001098812 [[132091696, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132113067]] [[132094205, 132094248], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132112799, 132112829]]
NM_001098813 [[132091696, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100111], [132101100, 132101221], [132113367, 132113561]] [[132094512, 132094516], [132096493, 132096684], [132096824, 132096957], [132097149, 132097318], [132097491, 132097588], [132098175, 132098337], [132099397, 132099584], [132099915, 132100082]]
Promoter
Chrom Start End Description
chr5 132101122 132101131 CAGE_peak_18_at_SEPT8_5end
chr5 132112907 132112918 CAGE_peak_5_at_SEPT8_5end
chr5 132112921 132112960 CAGE_peak_1_at_SEPT8_5end
chr5 132113042 132113061 CAGE_peak_4_at_SEPT8_5end
chr5 132113063 132113082 CAGE_peak_3_at_SEPT8_5end
chr5 132113083 132113109 CAGE_peak_2_at_SEPT8_5end
chr5 132113559 132113579 CAGE_peak_9_at_SEPT8_5end
chr5 132113585 132113605 CAGE_peak_11_at_SEPT8_5end
chr5 132113627 132113656 CAGE_peak_7_at_SEPT8_5end
chr5 132113658 132113680 CAGE_peak_10_at_SEPT8_5end
chr5 132113690 132113718 CAGE_peak_6_at_SEPT8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I132746 132746903 132748624 1.81 [{'connected_gene': 'CCNI2', 'score': 550.77}, {'connected_gene': 'SEPT8', 'score': 14.91}, {'connected_gene': 'GC05P132732', 'score': 0.37}, {'connected_gene': 'GC05M132777', 'score': 0.31}, {'connected_gene': 'GC05M132776', 'score': 0.31}]
chr5 GH05I132810 132810109 132810258 0.52 [{'connected_gene': 'CCNI2', 'score': 11.21}, {'connected_gene': 'KIF3A', 'score': 11.19}, {'connected_gene': 'RNU7-15P', 'score': 10.47}, {'connected_gene': 'RNA5SP192', 'score': 10.45}, {'connected_gene': 'SEPT8', 'score': 0.77}, {'connected_gene': 'SOWAHA', 'score': 0.77}]
chr5 GH05I132767 132767178 132768558 0.78 [{'connected_gene': 'SEPT8', 'score': 27.32}, {'connected_gene': 'CCNI2', 'score': 12.01}, {'connected_gene': 'KIF3A', 'score': 11.97}, {'connected_gene': 'SHROOM1', 'score': 11.33}, {'connected_gene': 'SOWAHA', 'score': 11.15}, {'connected_gene': 'TH2LCRR', 'score': 10.84}, {'connected_gene': 'IL4', 'score': 10.73}, {'connected_gene': 'RNU7-15P', 'score': 10.66}, {'connected_gene': 'RNA5SP192', 'score': 10.65}, {'connected_gene': 'ENSG00000230612', 'score': 10.49}, {'connected_gene': 'GC05M132777', 'score': 0.44}, {'connected_gene': 'GC05M132776', 'score': 0.44}, {'connected_gene': 'GC05P132732', 'score': 0.28}]
chr5 GH05I132770 132770547 132778458 2.4 [{'connected_gene': 'SEPT8', 'score': 592.33}, {'connected_gene': 'GC05M132777', 'score': 550.77}, {'connected_gene': 'GC05M132776', 'score': 550.77}, {'connected_gene': 'IL4', 'score': 23.39}, {'connected_gene': 'ENSG00000202533', 'score': 16.64}, {'connected_gene': 'LOC105379175', 'score': 16.12}, {'connected_gene': 'CCNI2', 'score': 12.48}, {'connected_gene': 'KIF3A', 'score': 12.45}, {'connected_gene': 'SOWAHA', 'score': 11.81}, {'connected_gene': 'AFF4', 'score': 11.49}, {'connected_gene': 'SHROOM1', 'score': 11.35}, {'connected_gene': 'TH2LCRR', 'score': 11.11}, {'connected_gene': 'C5orf56', 'score': 10.79}, {'connected_gene': 'IL13', 'score': 10.75}, {'connected_gene': 'RNU7-15P', 'score': 10.61}, {'connected_gene': 'RNA5SP192', 'score': 10.59}, {'connected_gene': 'ENSG00000230612', 'score': 10.54}, {'connected_gene': 'GC05P132732', 'score': 0.26}]
chr5 GH05I132808 132808467 132809447 0.86 [{'connected_gene': 'SEPT8', 'score': 550.77}, {'connected_gene': 'AFF4', 'score': 11.98}, {'connected_gene': 'GDF9', 'score': 10.91}, {'connected_gene': 'TH2LCRR', 'score': 10.77}, {'connected_gene': 'RNU7-15P', 'score': 10.62}, {'connected_gene': 'RNA5SP192', 'score': 10.6}, {'connected_gene': 'IL13', 'score': 9.81}, {'connected_gene': 'SOWAHA', 'score': 0.77}]
chr5 GH05I132806 132806388 132808413 1.12 [{'connected_gene': 'SEPT8', 'score': 550.77}, {'connected_gene': 'GDF9', 'score': 11.11}, {'connected_gene': 'TH2LCRR', 'score': 10.77}, {'connected_gene': 'RNU7-15P', 'score': 10.62}, {'connected_gene': 'RNA5SP192', 'score': 10.59}, {'connected_gene': 'IL13', 'score': 9.81}, {'connected_gene': 'SOWAHA', 'score': 0.44}]
chr5 GH05I132798 132798742 132799214 0.2 [{'connected_gene': 'SEPT8', 'score': 24.86}, {'connected_gene': 'SHROOM1', 'score': 11.45}, {'connected_gene': 'CCNI2', 'score': 11.09}, {'connected_gene': 'KIF3A', 'score': 11.06}, {'connected_gene': 'ENSG00000230612', 'score': 10.01}, {'connected_gene': 'GC05M132777', 'score': 0.34}, {'connected_gene': 'GC05M132776', 'score': 0.34}]
chr5 GH05I132797 132797423 132798463 0.31 [{'connected_gene': 'SEPT8', 'score': 25.47}, {'connected_gene': 'SHROOM1', 'score': 11.45}, {'connected_gene': 'CCNI2', 'score': 11.09}, {'connected_gene': 'KIF3A', 'score': 11.06}, {'connected_gene': 'ENSG00000230612', 'score': 10.01}, {'connected_gene': 'GC05M132777', 'score': 0.34}, {'connected_gene': 'GC05M132776', 'score': 0.34}]
chr5 GH05I132758 132758576 132759676 0.52 [{'connected_gene': 'SEPT8', 'score': 26.59}, {'connected_gene': 'SHROOM1', 'score': 11.13}, {'connected_gene': 'SOWAHA', 'score': 11.13}, {'connected_gene': 'RNU7-15P', 'score': 10.76}, {'connected_gene': 'RNA5SP192', 'score': 10.75}, {'connected_gene': 'ENSG00000230612', 'score': 10.5}, {'connected_gene': 'IL4', 'score': 10.5}, {'connected_gene': 'CCNI2', 'score': 0.39}, {'connected_gene': 'GC05M132777', 'score': 0.37}, {'connected_gene': 'GC05M132776', 'score': 0.37}, {'connected_gene': 'GC05P132732', 'score': 0.31}]
chr5 GH05I132782 132782896 132783883 0.2 [{'connected_gene': 'SEPT8', 'score': 29.1}, {'connected_gene': 'SOWAHA', 'score': 11.93}, {'connected_gene': 'CCNI2', 'score': 11.91}, {'connected_gene': 'KIF3A', 'score': 11.88}, {'connected_gene': 'SHROOM1', 'score': 11.5}, {'connected_gene': 'RNU7-15P', 'score': 10.84}, {'connected_gene': 'RNA5SP192', 'score': 10.82}, {'connected_gene': 'IL4', 'score': 10.8}, {'connected_gene': 'IL13', 'score': 10.63}, {'connected_gene': 'TH2LCRR', 'score': 10.63}, {'connected_gene': 'GC05M132777', 'score': 0.44}, {'connected_gene': 'GC05M132776', 'score': 0.44}, {'connected_gene': 'GC05P132732', 'score': 0.23}]
chr5 GH05I132788 132788100 132789768 0.81 [{'connected_gene': 'SEPT8', 'score': 26.76}, {'connected_gene': 'SOWAHA', 'score': 12.19}, {'connected_gene': 'SHROOM1', 'score': 11.39}, {'connected_gene': 'CCNI2', 'score': 10.82}, {'connected_gene': 'KIF3A', 'score': 10.79}, {'connected_gene': 'RNU7-15P', 'score': 10.71}, {'connected_gene': 'RNA5SP192', 'score': 10.7}, {'connected_gene': 'ENSG00000230612', 'score': 10.33}, {'connected_gene': 'LEAP2', 'score': 9.42}, {'connected_gene': 'GC05M132777', 'score': 0.39}, {'connected_gene': 'GC05M132776', 'score': 0.39}]
chr5 GH05I132751 132751665 132757104 0.76 [{'connected_gene': 'SEPT8', 'score': 26.56}, {'connected_gene': 'SOWAHA', 'score': 11.01}, {'connected_gene': 'SHROOM1', 'score': 10.94}, {'connected_gene': 'ENSG00000230612', 'score': 10.72}, {'connected_gene': 'IL4', 'score': 10.71}, {'connected_gene': 'RNU7-15P', 'score': 10.43}, {'connected_gene': 'RNA5SP192', 'score': 10.42}, {'connected_gene': 'CCNI2', 'score': 0.44}, {'connected_gene': 'GC05M132777', 'score': 0.34}, {'connected_gene': 'GC05P132732', 'score': 0.34}, {'connected_gene': 'GC05M132776', 'score': 0.34}]
chr5 GH05I132800 132800541 132800881 0.46 [{'connected_gene': 'SEPT8', 'score': 23.81}, {'connected_gene': 'KIF3A', 'score': 13.87}, {'connected_gene': 'SHROOM1', 'score': 13.84}, {'connected_gene': 'CCNI2', 'score': 11.09}, {'connected_gene': 'ENSG00000230612', 'score': 10.01}, {'connected_gene': 'SOWAHA', 'score': 2.2}, {'connected_gene': 'GC05M132777', 'score': 0.34}, {'connected_gene': 'GC05M132776', 'score': 0.34}]
chr5 GH05I132780 132780048 132780247 0.69 [{'connected_gene': 'SEPT8', 'score': 40.62}, {'connected_gene': 'KIF3A', 'score': 14.3}, {'connected_gene': 'SHROOM1', 'score': 13.36}, {'connected_gene': 'SOWAHA', 'score': 13.27}, {'connected_gene': 'CCNI2', 'score': 11.66}, {'connected_gene': 'TH2LCRR', 'score': 10.68}, {'connected_gene': 'IL13', 'score': 10.68}, {'connected_gene': 'RNU7-15P', 'score': 10.61}, {'connected_gene': 'RNA5SP192', 'score': 10.61}, {'connected_gene': 'IL4', 'score': 10.41}, {'connected_gene': 'ENSG00000230612', 'score': 10.11}, {'connected_gene': 'GC05M132777', 'score': 0.77}, {'connected_gene': 'GC05M132776', 'score': 0.77}, {'connected_gene': 'GC05P132732', 'score': 0.25}]
chr5 GH05I132801 132801733 132801794 0.42 [{'connected_gene': 'SHROOM1', 'score': 11.47}, {'connected_gene': 'CCNI2', 'score': 11.09}, {'connected_gene': 'KIF3A', 'score': 11.06}, {'connected_gene': 'ENSG00000230612', 'score': 10.01}, {'connected_gene': 'SEPT8', 'score': 4.05}, {'connected_gene': 'GC05M132777', 'score': 0.31}, {'connected_gene': 'GC05M132776', 'score': 0.31}]
chr5 GH05I132799 132799529 132799678 0.4 [{'connected_gene': 'SHROOM1', 'score': 11.45}, {'connected_gene': 'CCNI2', 'score': 11.09}, {'connected_gene': 'KIF3A', 'score': 11.06}, {'connected_gene': 'ENSG00000230612', 'score': 10.01}, {'connected_gene': 'SEPT8', 'score': 0.44}, {'connected_gene': 'GC05M132777', 'score': 0.34}, {'connected_gene': 'GC05M132776', 'score': 0.34}]
chr5 GH05I132781 132781989 132782605 0.88 [{'connected_gene': 'KIF3A', 'score': 22.27}, {'connected_gene': 'CCNI2', 'score': 11.93}, {'connected_gene': 'SOWAHA', 'score': 11.14}, {'connected_gene': 'RNU7-15P', 'score': 10.84}, {'connected_gene': 'RNA5SP192', 'score': 10.82}, {'connected_gene': 'IL13', 'score': 10.63}, {'connected_gene': 'TH2LCRR', 'score': 10.63}, {'connected_gene': 'GC05M132777', 'score': 0.44}, {'connected_gene': 'GC05M132776', 'score': 0.44}, {'connected_gene': 'SEPT8', 'score': 0.34}, {'connected_gene': 'GC05P132732', 'score': 0.23}]
chr5 GH05I132736 132736483 132739074 1.97 [{'connected_gene': 'KIF3A', 'score': 550.77}, {'connected_gene': 'SEPT8', 'score': 15.54}, {'connected_gene': 'ENSG00000230612', 'score': 11.21}, {'connected_gene': 'IL4', 'score': 11.08}, {'connected_gene': 'TH2LCRR', 'score': 11.08}, {'connected_gene': 'IL13', 'score': 11.06}, {'connected_gene': 'SHROOM1', 'score': 10.69}, {'connected_gene': 'IL5', 'score': 10.32}, {'connected_gene': 'RAD50', 'score': 10.32}, {'connected_gene': 'RNU7-15P', 'score': 10.18}, {'connected_gene': 'RNA5SP192', 'score': 10.17}, {'connected_gene': 'FNIP1', 'score': 4.49}, {'connected_gene': 'CCNI2', 'score': 0.44}, {'connected_gene': 'GC05P132732', 'score': 0.44}]

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