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
ENST00000538689 [[11653081, 11653520], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696476]] [[11667311, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000530337 [[11659747, 11659964], [11660267, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679327]] [[11660341, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679327]]
ENST00000220584 [[11660119, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11660341, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000446331 [[11660151, 11660419], [11683587, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696719]] None
ENST00000443614 [[11660247, 11660440], [11666302, 11666400], [11667175, 11667359], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696292]] [[11660341, 11660440], [11666302, 11666400], [11667175, 11667359], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000525283 [[11660249, 11660440], [11667300, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689176]] [[11660341, 11660440], [11667300, 11667359], [11679258, 11679304]]
ENST00000525607 [[11660249, 11660440], [11660830, 11661027], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696348]] [[11660341, 11660440], [11660830, 11660869]]
ENST00000529464 [[11660254, 11660440], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689090]] [[11660341, 11660440], [11667175, 11667232]]
ENST00000525900 [[11660274, 11660419], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696414]] [[11660341, 11660419], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000528812 [[11660520, 11661027], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696469]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000525571 [[11660276, 11660440], [11660599, 11660734], [11660830, 11661341]] None
ENST00000527045 [[11660292, 11660440], [11660830, 11661324]] None
ENST00000525551 [[11660603, 11660734], [11660813, 11661009]] None
ENST00000530664 [[11665451, 11665826], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696349]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000525954 [[11665925, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696476]] None
ENST00000531733 [[11665998, 11666400], [11667175, 11667485]] None
ENST00000531249 [[11666018, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683605]] None
ENST00000532266 [[11666299, 11666400], [11667175, 11667359], [11679258, 11679387], [11683587, 11683724], [11687752, 11687784]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683587, 11683611]]
ENST00000528643 [[11666652, 11666999], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696623]] [[11667233, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000525777 [[11666764, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696122]] [[11667233, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
ENST00000528729 [[11679289, 11679387], [11683508, 11683724], [11687752, 11687929], [11689026, 11689105]] None
ENST00000529521 [[11687788, 11687929], [11689026, 11689303]] None
NM_001287744 [[11653081, 11653520], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287743 [[11653081, 11653520], [11660267, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11660341, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287742 [[11653081, 11653520], [11659766, 11659964], [11660267, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11660341, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287756 [[11660119, 11660419], [11683587, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11660355, 11660419], [11683587, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_004462 [[11660119, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11660341, 11660440], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287745 [[11660119, 11660440], [11660830, 11661027], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287747 [[11660552, 11661027], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287748 [[11660597, 11660734], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287749 [[11665451, 11665826], [11666302, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11666395, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287750 [[11665925, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11666026, 11666400], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
NM_001287751 [[11666652, 11666999], [11667175, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696818]] [[11667233, 11667359], [11679258, 11679387], [11683532, 11683724], [11687752, 11687929], [11689026, 11689179], [11695896, 11696118]]
Promoter
Chrom Start End Description
chr8 11653073 11653097 CAGE_peak_4_at_FDFT1_5end
chr8 11653468 11653496 CAGE_peak_9_at_FDFT1_5end
chr8 11660207 11660221 CAGE_peak_3_at_FDFT1_5end
chr8 11660227 11660306 CAGE_peak_1_at_FDFT1_5end
chr8 11665932 11665943 CAGE_peak_5_at_FDFT1_5end
chr8 11665952 11665983 CAGE_peak_2_at_FDFT1_5end
chr8 11666649 11666665 CAGE_peak_11_at_FDFT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I011789 11789055 11790362 0.49 [{'connected_gene': 'SUB1P1', 'score': 562.05}, {'connected_gene': 'GC08P011790', 'score': 550.77}, {'connected_gene': 'FDFT1', 'score': 12.27}, {'connected_gene': 'NEIL2', 'score': 11.02}, {'connected_gene': 'CTSB', 'score': 4.85}, {'connected_gene': 'PIR57815', 'score': 0.77}, {'connected_gene': 'LOC105379243', 'score': 0.39}]
chr8 GH08I011768 11768559 11771232 2.03 [{'connected_gene': 'NEIL2', 'score': 572.88}, {'connected_gene': 'PIR40911', 'score': 550.77}, {'connected_gene': 'FDFT1', 'score': 12.65}, {'connected_gene': 'LOC105379243', 'score': 12.63}, {'connected_gene': 'C8orf49', 'score': 10.81}, {'connected_gene': 'CTSB', 'score': 10.63}, {'connected_gene': 'LOC105379241', 'score': 10.04}, {'connected_gene': 'BLK', 'score': 10.03}, {'connected_gene': 'ENSG00000269918', 'score': 5.53}]
chr8 GH08I011799 11799212 11810431 2.3 [{'connected_gene': 'FDFT1', 'score': 571.66}, {'connected_gene': 'PINX1', 'score': 30.87}, {'connected_gene': 'LOC101929290', 'score': 14.46}, {'connected_gene': 'NEIL2', 'score': 13.2}, {'connected_gene': 'CTSB', 'score': 13.05}, {'connected_gene': 'FAM86B2', 'score': 12.55}, {'connected_gene': 'LOC105379241', 'score': 10.63}, {'connected_gene': 'BLK', 'score': 10.62}, {'connected_gene': 'RPS3AP34', 'score': 10.38}, {'connected_gene': 'ENSG00000255122', 'score': 10.14}, {'connected_gene': 'SUB1P1', 'score': 7.54}, {'connected_gene': 'FAM85A', 'score': 4.46}, {'connected_gene': 'LOC105379243', 'score': 0.77}, {'connected_gene': 'PIR48315', 'score': 0.29}]
chr8 GH08I011795 11795328 11797972 1.68 [{'connected_gene': 'FDFT1', 'score': 561.12}, {'connected_gene': 'NEIL2', 'score': 28.06}, {'connected_gene': 'CTSB', 'score': 13.21}, {'connected_gene': 'C8orf49', 'score': 11.86}, {'connected_gene': 'LOC105379243', 'score': 0.44}]
chr8 GH08I011832 11832548 11832651 0.58 [{'connected_gene': 'FDFT1', 'score': 7.57}, {'connected_gene': 'NEIL2', 'score': 7.45}, {'connected_gene': 'PIR48315', 'score': 0.44}, {'connected_gene': 'LOC105379243', 'score': 0.29}]
chr8 GH08I011874 11874365 11880351 1.76 [{'connected_gene': 'FDFT1', 'score': 20.73}, {'connected_gene': 'CTSB', 'score': 19.09}, {'connected_gene': 'LOC105379243', 'score': 11.67}, {'connected_gene': 'DEFB136', 'score': 10.93}, {'connected_gene': 'DEFB135', 'score': 10.92}, {'connected_gene': 'NEIL2', 'score': 5.89}, {'connected_gene': 'PIR55200', 'score': 0.39}]
chr8 GH08I011851 11851787 11855689 1.42 [{'connected_gene': 'FDFT1', 'score': 19.77}, {'connected_gene': 'CTSB', 'score': 18.8}, {'connected_gene': 'LOC105379243', 'score': 12.22}, {'connected_gene': 'NEIL2', 'score': 5.89}, {'connected_gene': 'PIR38437', 'score': 0.44}, {'connected_gene': 'GC08M011864', 'score': 0.44}]
chr8 GH08I011825 11825649 11827626 0.38 [{'connected_gene': 'FDFT1', 'score': 22.81}, {'connected_gene': 'CTSB', 'score': 15.94}, {'connected_gene': 'LOC105379243', 'score': 12.84}, {'connected_gene': 'PIR48315', 'score': 0.39}]
chr8 GH08I011819 11819603 11822130 0.87 [{'connected_gene': 'FDFT1', 'score': 22.59}, {'connected_gene': 'CTSB', 'score': 16.73}, {'connected_gene': 'LOC105379243', 'score': 0.37}, {'connected_gene': 'PIR48315', 'score': 0.37}]
chr8 GH08I011823 11823512 11824860 0.6 [{'connected_gene': 'FDFT1', 'score': 21.71}, {'connected_gene': 'LOC105379243', 'score': 12.84}, {'connected_gene': 'CTSB', 'score': 9.52}, {'connected_gene': 'FAM66A', 'score': 6.24}, {'connected_gene': 'PIR48315', 'score': 0.37}]
chr8 GH08I011856 11856880 11869393 2.51 [{'connected_gene': 'CTSB', 'score': 572.79}, {'connected_gene': 'GC08M011864', 'score': 550.77}, {'connected_gene': 'PIR52976', 'score': 550.77}, {'connected_gene': 'FAM167A-AS1', 'score': 5.07}, {'connected_gene': 'FDFT1', 'score': 4.99}, {'connected_gene': 'NEIL2', 'score': 4.9}, {'connected_gene': 'FAM85A', 'score': 4.4}]
chr8 GH08I011827 11827867 11831987 0.59 [{'connected_gene': 'CTSB', 'score': 23.29}, {'connected_gene': 'ENSG00000269954', 'score': 11.28}, {'connected_gene': 'FDFT1', 'score': 9.98}, {'connected_gene': 'ENSG00000255310', 'score': 4.35}, {'connected_gene': 'PIR48315', 'score': 0.44}, {'connected_gene': 'LOC105379243', 'score': 0.31}]
chr8 GH08I011812 11812903 11814681 0.84 [{'connected_gene': 'CTSB', 'score': 12.88}, {'connected_gene': 'FDFT1', 'score': 11.25}, {'connected_gene': 'LOC105379241', 'score': 10.63}, {'connected_gene': 'BLK', 'score': 10.62}, {'connected_gene': 'LOC105379243', 'score': 0.39}, {'connected_gene': 'PIR48315', 'score': 0.31}]
chr8 GH08I011834 11834312 11834461 0.51 [{'connected_gene': 'CTSB', 'score': 7.49}, {'connected_gene': 'PIR48315', 'score': 0.77}, {'connected_gene': 'LOC105379243', 'score': 0.29}, {'connected_gene': 'FDFT1', 'score': 0.28}]
chr8 GH08I011836 11836243 11836634 0.69 [{'connected_gene': 'CTSB', 'score': 8.36}, {'connected_gene': 'PIR48315', 'score': 0.77}, {'connected_gene': 'LOC105379243', 'score': 0.29}, {'connected_gene': 'FDFT1', 'score': 0.26}]
chr8 GH08I011811 11811359 11812623 0.38 [{'connected_gene': 'LOC105379241', 'score': 10.63}, {'connected_gene': 'BLK', 'score': 10.62}, {'connected_gene': 'CTSB', 'score': 8.96}, {'connected_gene': 'FDFT1', 'score': 7.83}, {'connected_gene': 'LOC105379243', 'score': 0.44}, {'connected_gene': 'PIR48315', 'score': 0.31}]
chr8 GH08I011810 11810732 11810881 0.63 [{'connected_gene': 'LOC105379241', 'score': 10.63}, {'connected_gene': 'BLK', 'score': 10.62}, {'connected_gene': 'LOC105379243', 'score': 0.44}, {'connected_gene': 'FDFT1', 'score': 0.37}, {'connected_gene': 'PIR48315', 'score': 0.31}]
chr8 GH08I011679 11679069 11681991 1.02 [{'connected_gene': 'RPS3AP34', 'score': 22.39}, {'connected_gene': 'PINX1', 'score': 15.37}, {'connected_gene': 'LOC101929290', 'score': 13.42}, {'connected_gene': 'LOC105379241', 'score': 8.68}, {'connected_gene': 'ENSG00000269918', 'score': 7.4}, {'connected_gene': 'FDFT1', 'score': 6.66}, {'connected_gene': 'LOC100129129', 'score': 5.49}, {'connected_gene': 'GATA4', 'score': 4.36}, {'connected_gene': 'LOC101929490', 'score': 0.77}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011739 11739275 11744959 1.63 [{'connected_gene': 'ENSG00000269918', 'score': 10.9}, {'connected_gene': 'NEIL2', 'score': 9.84}, {'connected_gene': 'LOC105379241', 'score': 9.23}, {'connected_gene': 'FDFT1', 'score': 5.72}, {'connected_gene': 'ENSG00000269954', 'score': 5.45}, {'connected_gene': 'FAM85A', 'score': 5.32}, {'connected_gene': 'ENSG00000270154', 'score': 4.25}, {'connected_gene': 'FAM167A', 'score': 4.22}, {'connected_gene': 'C8orf49', 'score': 0.37}, {'connected_gene': 'GATA4', 'score': 0.2}, {'connected_gene': 'LOC101929490', 'score': 0.2}]
chr8 GH08I011886 11886966 11889799 1.28 [{'connected_gene': 'PIR55200', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 14.18}, {'connected_gene': 'DEFB136', 'score': 10.88}, {'connected_gene': 'DEFB135', 'score': 10.87}, {'connected_gene': 'FDFT1', 'score': 9.82}, {'connected_gene': 'DEFB131E', 'score': 5.57}, {'connected_gene': 'FAM66D', 'score': 4.66}, {'connected_gene': 'ENSG00000255144', 'score': 0.44}]
chr8 GH08I011885 11885461 11886910 1.16 [{'connected_gene': 'PIR55200', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 17.93}, {'connected_gene': 'NEIL2', 'score': 11.59}, {'connected_gene': 'C8orf49', 'score': 11.59}, {'connected_gene': 'DEFB136', 'score': 10.88}, {'connected_gene': 'DEFB135', 'score': 10.87}, {'connected_gene': 'FDFT1', 'score': 8.68}]
chr8 GH08I011844 11844244 11850289 0.96 [{'connected_gene': 'PIR53108', 'score': 550.77}, {'connected_gene': 'PIR38437', 'score': 550.77}, {'connected_gene': 'PIR36400', 'score': 550.77}, {'connected_gene': 'ENSG00000269899', 'score': 550.77}, {'connected_gene': 'PIR43605', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 26.76}, {'connected_gene': 'FDFT1', 'score': 9.17}, {'connected_gene': 'NEIL2', 'score': 5.96}, {'connected_gene': 'LOC100129129', 'score': 4.73}, {'connected_gene': 'PIR35218', 'score': 0.77}]
chr8 GH08I011840 11840389 11841856 0.69 [{'connected_gene': 'PIR43245', 'score': 550.77}, {'connected_gene': 'PIR48315', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 25.11}, {'connected_gene': 'LOC105379243', 'score': 12.52}, {'connected_gene': 'FDFT1', 'score': 12.49}, {'connected_gene': 'FAM85A', 'score': 4.47}, {'connected_gene': 'PIR36133', 'score': 0.77}]

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