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
ENST00000428443 [[179966418, 179974755], [179977450, 179977572], [179979791, 179979983], [179981394, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988556], [179989090, 179989285], [179997030, 179997153], [180008318, 180008530], [180011128, 180011184], [180014023, 180014121], [180016004, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056593], [180129225, 180129517]] [[179974625, 179974755], [179977450, 179977572], [179979791, 179979983], [179981394, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988556], [179989090, 179989285], [179997030, 179997153], [180008318, 180008530], [180011128, 180011184], [180014023, 180014121], [180016004, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056568]]
ENST00000440010 [[180016049, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056593], [180128844, 180129000]] [[180016049, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056568]]
ENST00000435047 [[180016058, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056593], [180128703, 180128930]] [[180016058, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056568]]
ENST00000452991 [[180039132, 180039185], [180041174, 180041265], [180047806, 180047915], [180056513, 180056593], [180129225, 180129352]] [[180039158, 180039185], [180041174, 180041265], [180047806, 180047915], [180056513, 180056568]]
ENST00000446758 [[179974048, 179974755], [179977450, 179977572], [179979791, 179979983], [179981300, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988556], [179989090, 179989194]] [[179981346, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988556], [179989090, 179989194]]
ENST00000335289 [[179974078, 179974755], [179977450, 179977572], [179979791, 179979983], [179981394, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988459], [180008370, 180008530], [180011128, 180011184], [180014023, 180014108]] [[179986655, 179986656], [179988441, 179988459], [180008370, 180008530], [180011128, 180011184], [180014023, 180014108]]
ENST00000426988 [[179986520, 179986656], [179989090, 179989285], [179997030, 179997153], [180008318, 180008530], [180011128, 180011186]] [[179986566, 179986656], [179989090, 179989285], [179997030, 179997153], [180008318, 180008530], [180011128, 180011186]]
ENST00000489901 [[179996771, 179997153], [180008318, 180008530], [180011128, 180011186]] None
ENST00000486468 [[180027209, 180027238], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056593]] None
NM_178123 [[179966418, 179974755], [179977450, 179977572], [179979791, 179979983], [179981394, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988556], [179989090, 179989285], [179997030, 179997153], [180008318, 180008530], [180011128, 180011184], [180014023, 180014121], [180016004, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056593], [180129225, 180129350]] [[179974625, 179974755], [179977450, 179977572], [179979791, 179979983], [179981394, 179981517], [179982258, 179982340], [179986496, 179986656], [179988441, 179988556], [179989090, 179989285], [179997030, 179997153], [180008318, 180008530], [180011128, 180011184], [180014023, 180014121], [180016004, 180016118], [180036846, 180036960], [180041174, 180041265], [180047806, 180047915], [180056513, 180056568]]
Promoter
Chrom Start End Description
chr2 180129254 180129321 CAGE_peak_2_at_SESTD1_5end
chr2 180129344 180129347 CAGE_peak_10_at_SESTD1_5end
chr2 180129396 180129412 CAGE_peak_5_at_SESTD1_5end
chr2 180129484 180129574 CAGE_peak_1_at_SESTD1_5end
chr2 180129847 180129858 CAGE_peak_8_at_SESTD1_5end
chr2 180129860 180129927 CAGE_peak_3_at_SESTD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I179237 179237123 179240935 1.25 [{'connected_gene': 'SESTD1', 'score': 19.02}, {'connected_gene': 'TTN', 'score': 4.05}, {'connected_gene': 'GC02P179234', 'score': 0.77}]
chr2 GH02I179247 179247266 179248155 0.31 [{'connected_gene': 'SESTD1', 'score': 7.63}, {'connected_gene': 'TTN', 'score': 4.09}, {'connected_gene': 'GC02P179234', 'score': 0.39}]
chr2 GH02I179337 179337051 179337470 0.38 [{'connected_gene': 'SESTD1', 'score': 11.54}, {'connected_gene': 'GC02P179318', 'score': 0.37}, {'connected_gene': 'GC02P179292', 'score': 0.25}, {'connected_gene': 'GC02P179291', 'score': 0.25}, {'connected_gene': 'LOC644776', 'score': 0.21}]
chr2 GH02I178792 178792642 178795941 0.38 [{'connected_gene': 'SESTD1', 'score': 9.81}, {'connected_gene': 'FKBP7', 'score': 4.88}, {'connected_gene': 'LOC101927055', 'score': 0.37}, {'connected_gene': 'LOC105373766', 'score': 0.29}, {'connected_gene': 'TTN', 'score': 0.28}]
chr2 GH02I178891 178891903 178893353 0.57 [{'connected_gene': 'SESTD1', 'score': 10.8}, {'connected_gene': 'CCDC141', 'score': 8.33}, {'connected_gene': 'GC02P178916', 'score': 0.34}, {'connected_gene': 'RNU7-104P', 'score': 0.21}, {'connected_gene': 'LOC105373766', 'score': 0.2}]
chr2 GH02I179030 179030777 179032936 1.14 [{'connected_gene': 'SESTD1', 'score': 10.2}, {'connected_gene': 'CCDC141', 'score': 6.76}, {'connected_gene': 'GC02P179029', 'score': 0.44}]
chr2 GH02I178924 178924526 178925193 0.38 [{'connected_gene': 'SESTD1', 'score': 9.7}, {'connected_gene': 'GC02P178916', 'score': 0.44}, {'connected_gene': 'GC02P178937', 'score': 0.39}, {'connected_gene': 'CCDC141', 'score': 0.13}]
chr2 GH02I178928 178928214 178928363 0.62 [{'connected_gene': 'SESTD1', 'score': 9.7}, {'connected_gene': 'GC02P178937', 'score': 0.44}, {'connected_gene': 'GC02P178916', 'score': 0.39}, {'connected_gene': 'CCDC141', 'score': 0.13}]
chr2 GH02I178894 178894944 178897297 0.2 [{'connected_gene': 'SESTD1', 'score': 10.8}, {'connected_gene': 'GC02P178916', 'score': 0.34}, {'connected_gene': 'RNU7-104P', 'score': 0.21}, {'connected_gene': 'LOC105373766', 'score': 0.2}, {'connected_gene': 'CCDC141', 'score': 0.1}]
chr2 GH02I178893 178893945 178894505 0.31 [{'connected_gene': 'SESTD1', 'score': 10.8}, {'connected_gene': 'GC02P178916', 'score': 0.34}, {'connected_gene': 'RNU7-104P', 'score': 0.21}, {'connected_gene': 'LOC105373766', 'score': 0.2}, {'connected_gene': 'CCDC141', 'score': 0.1}]
chr2 GH02I178836 178836786 178837477 0.43 [{'connected_gene': 'SESTD1', 'score': 10.34}, {'connected_gene': 'LOC105373766', 'score': 0.44}, {'connected_gene': 'RNU7-104P', 'score': 0.44}, {'connected_gene': 'GC02P178916', 'score': 0.18}, {'connected_gene': 'CCDC141', 'score': 0.08}]
chr2 GH02I178892 178891434 178891663 0.85 [{'connected_gene': 'SESTD1', 'score': 10.77}, {'connected_gene': 'GC02P178916', 'score': 0.34}, {'connected_gene': 'LOC105373766', 'score': 0.21}, {'connected_gene': 'RNU7-104P', 'score': 0.21}, {'connected_gene': 'CCDC141', 'score': 0.1}]
chr2 GH02I179095 179095807 179096763 0.68 [{'connected_gene': 'SESTD1', 'score': 5.6}, {'connected_gene': 'GC02M179102', 'score': 0.44}, {'connected_gene': 'GC02P179072', 'score': 0.34}]
chr2 GH02I179180 179180043 179181433 0.77 [{'connected_gene': 'SESTD1', 'score': 17.27}, {'connected_gene': 'GC02P179150', 'score': 0.29}, {'connected_gene': 'GC02P179231', 'score': 0.23}]
chr2 GH02I179262 179262565 179265687 2.11 [{'connected_gene': 'SESTD1', 'score': 556.98}, {'connected_gene': 'GC02P179234', 'score': 0.31}]
chr2 GH02I179251 179251768 179252131 0.44 [{'connected_gene': 'SESTD1', 'score': 9.61}, {'connected_gene': 'GC02P179234', 'score': 0.37}]
chr2 GH02I179254 179254054 179255862 0.38 [{'connected_gene': 'SESTD1', 'score': 0.44}, {'connected_gene': 'GC02P179234', 'score': 0.34}]
chr2 GH02I179267 179267959 179269366 1.2 [{'connected_gene': 'SESTD1', 'score': 6.29}, {'connected_gene': 'ENSG00000237477', 'score': 0.44}]
chr2 GH02I179105 179105913 179108483 1.15 [{'connected_gene': 'NUDCP2', 'score': 25.23}, {'connected_gene': 'ENSG00000271401', 'score': 16.44}, {'connected_gene': 'PJVK', 'score': 11.66}, {'connected_gene': 'SESTD1', 'score': 5.63}, {'connected_gene': 'GC02M179102', 'score': 0.77}, {'connected_gene': 'GC02P179132', 'score': 0.31}]
chr2 GH02I179234 179234402 179236161 0.92 [{'connected_gene': 'GC02P179234', 'score': 550.77}, {'connected_gene': 'SESTD1', 'score': 18.88}]
chr2 GH02I179219 179219000 179219243 0.98 [{'connected_gene': 'GC02P179231', 'score': 0.39}, {'connected_gene': 'SESTD1', 'score': 0.25}, {'connected_gene': 'GC02P179150', 'score': 0.2}]
chr2 GH02I179104 179104800 179105201 0.46 [{'connected_gene': 'GC02M179102', 'score': 550.77}, {'connected_gene': 'GC02P179132', 'score': 0.31}, {'connected_gene': 'SESTD1', 'score': 0.1}]
chr2 GH02I179272 179272185 179274249 1.29 [{'connected_gene': 'ENSG00000237477', 'score': 550.77}, {'connected_gene': 'SESTD1', 'score': 5.45}]

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