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
ENST00000484910 [[211649863, 211652669], [211665109, 211665373]] None
ENST00000367002 [[211649863, 211652669], [211654461, 211654771], [211665109, 211666259]] [[211652377, 211652669], [211654461, 211654757]]
NM_183059 [[211649863, 211652669], [211654461, 211654771], [211665109, 211666259]] [[211652377, 211652669], [211654461, 211654757]]
NM_001164688 [[211649863, 211652669], [211654461, 211654768], [211665109, 211666259]] [[211652377, 211652669], [211654461, 211654757]]
Promoter
Chrom Start End Description
chr1 211665365 211665411 CAGE_peak_2_at_RD3_5end
chr1 211665453 211665518 CAGE_peak_1_at_RD3_5end
chr1 211665830 211665832 CAGE_peak_5_at_RD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I211365 211365265 211369720 0.43 [{'connected_gene': 'LINC00467', 'score': 17.49}, {'connected_gene': 'TRAF5', 'score': 12.41}, {'connected_gene': 'RD3', 'score': 11.33}, {'connected_gene': 'ENSG00000223649', 'score': 11.33}]
chr1 GH01I211489 211489620 211489960 0.48 [{'connected_gene': 'LINC00467', 'score': 8.21}, {'connected_gene': 'RD3', 'score': 0.77}, {'connected_gene': 'ENSG00000223649', 'score': 0.77}, {'connected_gene': 'ARPC3P2', 'score': 0.25}]
chr1 GH01I211558 211558607 211560472 0.66 [{'connected_gene': 'LINC00467', 'score': 7.65}, {'connected_gene': 'GC01M211578', 'score': 0.37}, {'connected_gene': 'RD3', 'score': 0.2}]
chr1 GH01I211513 211513754 211518166 1.71 [{'connected_gene': 'SLC30A1', 'score': 17.38}, {'connected_gene': 'TRAF5', 'score': 12.18}, {'connected_gene': 'RCOR3', 'score': 11.17}, {'connected_gene': 'LINC00467', 'score': 6.43}, {'connected_gene': 'RD3', 'score': 0.34}, {'connected_gene': 'GC01M211578', 'score': 0.21}]
chr1 GH01I211547 211547617 211552886 1.36 [{'connected_gene': 'SLC30A1', 'score': 12.46}, {'connected_gene': 'PPP2R5A', 'score': 4.27}, {'connected_gene': 'GC01M211578', 'score': 0.31}, {'connected_gene': 'RD3', 'score': 0.22}]
chr1 GH01I211646 211646276 211650990 1.54 [{'connected_gene': 'SNORA16B', 'score': 15.94}, {'connected_gene': 'SLC30A1', 'score': 12.47}, {'connected_gene': 'RD3', 'score': 11.22}, {'connected_gene': 'ENSG00000223649', 'score': 11.22}, {'connected_gene': 'NEK2', 'score': 10.53}, {'connected_gene': 'LOC91548', 'score': 10.53}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'ENSG00000228792', 'score': 0.44}, {'connected_gene': 'FDPSP8', 'score': 0.39}]
chr1 GH01I211525 211525562 211531723 0.78 [{'connected_gene': 'RCOR3', 'score': 12.18}, {'connected_gene': 'RPL21P28', 'score': 10.08}, {'connected_gene': 'LINC00467', 'score': 7.75}, {'connected_gene': 'RD3', 'score': 0.28}, {'connected_gene': 'GC01M211578', 'score': 0.25}]
chr1 GH01I211334 211334637 211338074 1.06 [{'connected_gene': 'RD3', 'score': 11.28}, {'connected_gene': 'ENSG00000223649', 'score': 11.28}, {'connected_gene': 'LINC00467', 'score': 7.32}, {'connected_gene': 'TRAF5', 'score': 0.44}]
chr1 GH01I211344 211344171 211344634 1.18 [{'connected_gene': 'RD3', 'score': 18.01}, {'connected_gene': 'TRAF5', 'score': 4.98}, {'connected_gene': 'LINC00467', 'score': 0.28}]
chr1 GH01I211492 211492145 211492204 0.82 [{'connected_gene': 'RD3', 'score': 550.77}, {'connected_gene': 'ENSG00000223649', 'score': 550.77}, {'connected_gene': 'ARPC3P2', 'score': 0.25}]
chr1 GH01I211470 211470059 211470328 0.81 [{'connected_gene': 'RD3', 'score': 12.31}, {'connected_gene': 'ENSG00000223649', 'score': 12.31}, {'connected_gene': 'ARPC3P2', 'score': 0.31}]
chr1 GH01I211468 211468719 211468868 0.43 [{'connected_gene': 'RD3', 'score': 12.31}, {'connected_gene': 'ENSG00000223649', 'score': 12.31}, {'connected_gene': 'ARPC3P2', 'score': 0.31}]
chr1 GH01I210606 210606713 210608293 0.38 [{'connected_gene': 'RD3', 'score': 5.3}, {'connected_gene': 'ENSG00000279333', 'score': 0.19}, {'connected_gene': 'LOC100421537', 'score': 0.11}, {'connected_gene': 'HHAT', 'score': 0.06}]
chr1 GH01I211518 211518758 211519608 1.03 [{'connected_gene': 'RD3', 'score': 0.31}, {'connected_gene': 'GC01M211578', 'score': 0.22}]
chr1 GH01I211638 211638359 211640927 1.11 [{'connected_gene': 'LINC01693', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 12.23}, {'connected_gene': 'RD3', 'score': 11.45}, {'connected_gene': 'ENSG00000223649', 'score': 11.45}, {'connected_gene': 'NEK2', 'score': 10.49}, {'connected_gene': 'LOC91548', 'score': 10.49}, {'connected_gene': 'ENSG00000260805', 'score': 4.38}, {'connected_gene': 'ENSG00000228792', 'score': 0.77}, {'connected_gene': 'LOC105372903', 'score': 0.29}]
chr1 GH01I211573 211573781 211582600 2.71 [{'connected_gene': 'GC01M211578', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 550.77}, {'connected_gene': 'LINC00467', 'score': 5.87}, {'connected_gene': 'TRAF5', 'score': 2.87}, {'connected_gene': 'RD3', 'score': 0.17}]
chr1 GH01I211641 211641335 211645606 1.34 [{'connected_gene': 'ENSG00000228792', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 16.98}, {'connected_gene': 'RD3', 'score': 11.22}, {'connected_gene': 'ENSG00000223649', 'score': 11.22}, {'connected_gene': 'NEK2', 'score': 10.51}, {'connected_gene': 'LOC91548', 'score': 10.51}, {'connected_gene': 'LINC01693', 'score': 0.77}, {'connected_gene': 'FDPSP8', 'score': 0.37}]
chr1 GH01I211539 211539462 211539778 0.33 [{'connected_gene': 'GC01M211578', 'score': 0.28}, {'connected_gene': 'RD3', 'score': 0.25}]
chr1 GH01I211541 211541414 211543941 0.99 [{'connected_gene': 'GC01M211578', 'score': 0.28}, {'connected_gene': 'RD3', 'score': 0.25}]

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