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
ENST00000366639 [[231664398, 231664572], [231665000, 231665105], [231672958, 231673073], [231678226, 231678357], [231696873, 231697001], [231700273, 231702270]] [[231664556, 231664572], [231665000, 231665105], [231672958, 231673073], [231678226, 231678357], [231696873, 231697001], [231700273, 231700651]]
ENST00000413309 [[231664400, 231664572], [231665000, 231665105], [231672958, 231673073], [231678205, 231678357], [231696873, 231696975]] [[231664556, 231664572], [231665000, 231665105], [231672958, 231673073], [231678205, 231678357], [231696873, 231696975]]
ENST00000602825 [[231664412, 231664572], [231665000, 231665105], [231672958, 231673073], [231678226, 231678357], [231690366, 231690440]] None
ENST00000476913 [[231665008, 231665105], [231672958, 231673073], [231678226, 231678595]] None
ENST00000475168 [[231669865, 231673073], [231678226, 231678357], [231696873, 231697001], [231699210, 231699375], [231700273, 231702270]] None
NM_005999 [[231664398, 231664572], [231665000, 231665105], [231672958, 231673073], [231678226, 231678357], [231696873, 231697001], [231700273, 231702270]] [[231664556, 231664572], [231665000, 231665105], [231672958, 231673073], [231678226, 231678357], [231696873, 231697001], [231700273, 231700651]]
Promoter
Chrom Start End Description
chr1 231664390 231664479 CAGE_peak_1_at_TSNAX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I231494 231494559 231494744 0.52 [{'connected_gene': 'TSNAX', 'score': 3.07}, {'connected_gene': 'DISC1', 'score': 2.3}, {'connected_gene': 'GC01M231493', 'score': 0.77}, {'connected_gene': 'SNRPD2P2', 'score': 0.37}]
chr1 GH01I231502 231502936 231503129 0.22 [{'connected_gene': 'TSNAX', 'score': 3.62}, {'connected_gene': 'DISC1', 'score': 2.53}, {'connected_gene': 'GC01M231493', 'score': 0.44}, {'connected_gene': 'GC01P231515', 'score': 0.39}]
chr1 GH01I231527 231527091 231531007 2.42 [{'connected_gene': 'TSNAX', 'score': 557.03}, {'connected_gene': 'TSNAX-DISC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233461', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 15.79}, {'connected_gene': 'COG2', 'score': 10.83}, {'connected_gene': 'DISC1', 'score': 6.11}, {'connected_gene': 'GNPAT', 'score': 5.53}, {'connected_gene': 'EXOC8', 'score': 4.66}, {'connected_gene': 'SPRTN', 'score': 1.98}, {'connected_gene': 'GC01P231515', 'score': 0.39}, {'connected_gene': 'GC01P231590', 'score': 0.21}, {'connected_gene': 'GC01P231591', 'score': 0.21}]
chr1 GH01I231599 231599691 231602307 0.82 [{'connected_gene': 'DISC1', 'score': 21.75}, {'connected_gene': 'TSNAX', 'score': 10.81}, {'connected_gene': 'ENSG00000233461', 'score': 10.81}, {'connected_gene': 'EGLN1', 'score': 10.21}, {'connected_gene': 'GC01P231590', 'score': 0.39}, {'connected_gene': 'GC01P231591', 'score': 0.39}, {'connected_gene': 'LINC00582', 'score': 0.39}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.19}, {'connected_gene': 'GC01P231515', 'score': 0.17}]
chr1 GH01I231982 231982147 231982300 0.41 [{'connected_gene': 'DISC1', 'score': 2.31}, {'connected_gene': 'TSNAX', 'score': 1.18}, {'connected_gene': 'DISC1-IT1', 'score': 0.22}, {'connected_gene': 'LOC105373172', 'score': 0.21}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.05}]
chr1 GH01I231724 231724800 231725600 1.19 [{'connected_gene': 'DISC1', 'score': 19.16}, {'connected_gene': 'TSNAX', 'score': 1.58}, {'connected_gene': 'GC01P231693', 'score': 0.29}, {'connected_gene': 'ENSG00000274121', 'score': 0.17}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.08}]
chr1 GH01I231726 231726655 231726924 0.22 [{'connected_gene': 'DISC1', 'score': 12.66}, {'connected_gene': 'TSNAX', 'score': 1.51}, {'connected_gene': 'GC01P231693', 'score': 0.29}, {'connected_gene': 'ENSG00000274121', 'score': 0.17}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.08}]
chr1 GH01I231585 231585002 231585315 0.39 [{'connected_gene': 'LINC00582', 'score': 11.71}, {'connected_gene': 'EGLN1', 'score': 11.33}, {'connected_gene': 'DISC1', 'score': 7.34}, {'connected_gene': 'TSNAX', 'score': 2.71}, {'connected_gene': 'GC01P231590', 'score': 0.44}, {'connected_gene': 'GC01P231591', 'score': 0.44}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.22}, {'connected_gene': 'GC01P231515', 'score': 0.2}]
chr1 GH01I231583 231583938 231584719 0.85 [{'connected_gene': 'LINC00582', 'score': 11.71}, {'connected_gene': 'EGLN1', 'score': 11.33}, {'connected_gene': 'GC01P231590', 'score': 0.44}, {'connected_gene': 'GC01P231591', 'score': 0.44}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.22}, {'connected_gene': 'TSNAX', 'score': 0.22}, {'connected_gene': 'GC01P231515', 'score': 0.2}]
chr1 GH01I231571 231571831 231572185 0.31 [{'connected_gene': 'GC01P231590', 'score': 0.37}, {'connected_gene': 'GC01P231591', 'score': 0.37}, {'connected_gene': 'TSNAX-DISC1', 'score': 0.26}, {'connected_gene': 'TSNAX', 'score': 0.26}, {'connected_gene': 'GC01P231515', 'score': 0.22}]