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
ENST00000263563 [[72238576, 72238815], [72285678, 72285892], [72288984, 72289087], [72289644, 72289824], [72291045, 72291210], [72292376, 72292537], [72292750, 72292826], [72293677, 72293829], [72294180, 72294280], [72294494, 72294599], [72297566, 72297662], [72298035, 72298164], [72298647, 72298764], [72298847, 72299003], [72299335, 72299518], [72300857, 72300998], [72301218, 72301290], [72307061, 72307202], [72324119, 72324275], [72326336, 72328205]] [[72285707, 72285892], [72288984, 72289087], [72289644, 72289824], [72291045, 72291210], [72292376, 72292537], [72292750, 72292826], [72293677, 72293829], [72294180, 72294280], [72294494, 72294599], [72297566, 72297662], [72298035, 72298164], [72298647, 72298764], [72298847, 72299003], [72299335, 72299518], [72300857, 72300998], [72301218, 72301290], [72307061, 72307202], [72324119, 72324275], [72326336, 72326489]]
NM_014431 [[72238563, 72238815], [72285678, 72285892], [72288984, 72289087], [72289644, 72289824], [72291045, 72291210], [72292376, 72292537], [72292750, 72292826], [72293677, 72293829], [72294180, 72294280], [72294494, 72294599], [72297566, 72297662], [72298035, 72298164], [72298647, 72298764], [72298847, 72299003], [72299335, 72299518], [72300857, 72300998], [72301218, 72301290], [72307061, 72307202], [72324119, 72324275], [72326336, 72328206]] [[72285707, 72285892], [72288984, 72289087], [72289644, 72289824], [72291045, 72291210], [72292376, 72292537], [72292750, 72292826], [72293677, 72293829], [72294180, 72294280], [72294494, 72294599], [72297566, 72297662], [72298035, 72298164], [72298647, 72298764], [72298847, 72299003], [72299335, 72299518], [72300857, 72300998], [72301218, 72301290], [72307061, 72307202], [72324119, 72324275], [72326336, 72326489]]
Promoter
Chrom Start End Description
chr10 72238517 72238595 CAGE_peak_1_at_KIAA1274_5end
chr10 72238698 72238712 CAGE_peak_4_at_KIAA1274_5end
chr10 72238717 72238746 CAGE_peak_2_at_KIAA1274_5end
chr10 72238747 72238760 CAGE_peak_3_at_KIAA1274_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070549 70549965 70550114 0.74 [{'connected_gene': 'SGPL1', 'score': 11.45}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.21}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10 GH10I070551 70551043 70553978 0.86 [{'connected_gene': 'SGPL1', 'score': 11.46}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.2}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10 GH10I069757 69757351 69758659 1 [{'connected_gene': 'DDX50', 'score': 49.52}, {'connected_gene': 'CEP57L1P1', 'score': 27.96}, {'connected_gene': 'PALD1', 'score': 18.73}, {'connected_gene': 'COL13A1', 'score': 11.17}, {'connected_gene': 'FAM241B', 'score': 10.3}, {'connected_gene': 'KIF1BP', 'score': 9.89}, {'connected_gene': 'TSPAN15', 'score': 4.72}, {'connected_gene': 'RPL5P26', 'score': 0.34}, {'connected_gene': 'GC10P069687', 'score': 0.19}]
chr10 GH10I070456 70456285 70456434 0.46 [{'connected_gene': 'NPFFR1', 'score': 9.42}, {'connected_gene': 'PALD1', 'score': 0.77}, {'connected_gene': 'NODAL', 'score': 0.44}]
chr10 GH10I070455 70455147 70455856 0.56 [{'connected_gene': 'NPFFR1', 'score': 9.42}, {'connected_gene': 'EIF4EBP2', 'score': 6.17}, {'connected_gene': 'PALD1', 'score': 0.77}, {'connected_gene': 'NODAL', 'score': 0.44}]
chr10 GH10I070558 70558614 70563399 1.4 [{'connected_gene': 'SAR1A', 'score': 11.4}, {'connected_gene': 'TYSND1', 'score': 10.12}, {'connected_gene': 'ADAMTS14', 'score': 4.79}, {'connected_gene': 'PRF1', 'score': 0.26}, {'connected_gene': 'YY1P1', 'score': 0.19}, {'connected_gene': 'PALD1', 'score': 0.15}]
chr10 GH10I070458 70458001 70459712 1.05 [{'connected_gene': 'PALD1', 'score': 550.77}, {'connected_gene': 'NPFFR1', 'score': 9.42}, {'connected_gene': 'YY1P1', 'score': 0.31}]
chr10 GH10I070477 70477530 70480926 2.48 [{'connected_gene': 'PALD1', 'score': 578.31}, {'connected_gene': 'NODAL', 'score': 10.9}, {'connected_gene': 'PCBD1', 'score': 9.86}, {'connected_gene': 'YY1P1', 'score': 0.44}]
chr10 GH10I070481 70481661 70483823 1 [{'connected_gene': 'PALD1', 'score': 14.7}, {'connected_gene': 'NODAL', 'score': 10.9}, {'connected_gene': 'PCBD1', 'score': 9.86}, {'connected_gene': 'YY1P1', 'score': 0.77}]
chr10 GH10I070495 70495873 70497337 0.52 [{'connected_gene': 'PALD1', 'score': 16.97}, {'connected_gene': 'CEP57L1P1', 'score': 16.49}, {'connected_gene': 'YY1P1', 'score': 0.39}, {'connected_gene': 'PRF1', 'score': 0.14}]
chr10 GH10I070459 70459887 70460135 0.2 [{'connected_gene': 'PALD1', 'score': 550.77}, {'connected_gene': 'EIF4EBP2', 'score': 10.98}, {'connected_gene': 'YY1P1', 'score': 0.31}]
chr10 GH10I070492 70492785 70495629 1.34 [{'connected_gene': 'PALD1', 'score': 27.11}, {'connected_gene': 'YY1P1', 'score': 0.44}, {'connected_gene': 'PRF1', 'score': 0.14}]
chr10 GH10I070506 70506122 70507356 0.31 [{'connected_gene': 'PALD1', 'score': 12.37}, {'connected_gene': 'YY1P1', 'score': 0.34}, {'connected_gene': 'PRF1', 'score': 0.15}]
chr10 GH10I070504 70504680 70505670 0.2 [{'connected_gene': 'PALD1', 'score': 12.37}, {'connected_gene': 'YY1P1', 'score': 0.37}, {'connected_gene': 'PRF1', 'score': 0.15}]
chr10 GH10I070491 70490698 70491604 0.52 [{'connected_gene': 'PALD1', 'score': 7.52}, {'connected_gene': 'YY1P1', 'score': 0.77}, {'connected_gene': 'PRF1', 'score': 0.14}]
chr10 GH10I070499 70499004 70501600 1.21 [{'connected_gene': 'PALD1', 'score': 15.62}, {'connected_gene': 'YY1P1', 'score': 0.39}, {'connected_gene': 'PRF1', 'score': 0.15}]
chr10 GH10I070507 70507921 70511071 1 [{'connected_gene': 'PALD1', 'score': 12.36}, {'connected_gene': 'YY1P1', 'score': 0.34}, {'connected_gene': 'PRF1', 'score': 0.16}]
chr10 GH10I070540 70540565 70540714 0.7 [{'connected_gene': 'CEP57L1P1', 'score': 10.4}, {'connected_gene': 'YY1P1', 'score': 0.23}, {'connected_gene': 'PRF1', 'score': 0.21}, {'connected_gene': 'PALD1', 'score': 0.18}]
chr10 GH10I070512 70512147 70512692 0.63 [{'connected_gene': 'EIF4EBP2', 'score': 10.37}, {'connected_gene': 'SAR1A', 'score': 9.74}, {'connected_gene': 'YY1P1', 'score': 0.31}, {'connected_gene': 'PALD1', 'score': 0.23}, {'connected_gene': 'PRF1', 'score': 0.16}]
chr10 GH10I070403 70403448 70406957 2.25 [{'connected_gene': 'EIF4EBP2', 'score': 560.46}, {'connected_gene': 'GC10M070403', 'score': 550.77}, {'connected_gene': 'PIR57459', 'score': 550.77}, {'connected_gene': 'LRRC20', 'score': 12.62}, {'connected_gene': 'PALD1', 'score': 11.21}, {'connected_gene': 'NODAL', 'score': 10.46}]
chr10 GH10I070462 70462206 70463374 0.79 [{'connected_gene': 'EIF4EBP2', 'score': 10.82}, {'connected_gene': 'PALD1', 'score': 0.77}, {'connected_gene': 'YY1P1', 'score': 0.34}]
chr10 GH10I070461 70461485 70461654 0.74 [{'connected_gene': 'EIF4EBP2', 'score': 10.82}, {'connected_gene': 'PALD1', 'score': 0.77}, {'connected_gene': 'YY1P1', 'score': 0.34}]
chr10 GH10I070651 70651745 70654633 1.53 [{'connected_gene': 'ADAMTS14', 'score': 28.18}, {'connected_gene': 'PRF1', 'score': 11.59}, {'connected_gene': 'PALD1', 'score': 10.34}, {'connected_gene': 'GC10M070611', 'score': 0.28}]
chr10 GH10I070565 70565401 70566000 0.51 [{'connected_gene': 'ADAMTS14', 'score': 6.6}, {'connected_gene': 'PRF1', 'score': 0.28}, {'connected_gene': 'YY1P1', 'score': 0.18}, {'connected_gene': 'PALD1', 'score': 0.14}]
chr10 GH10I070537 70537745 70537914 0.62 [{'connected_gene': 'YY1P1', 'score': 0.23}, {'connected_gene': 'PRF1', 'score': 0.21}, {'connected_gene': 'PALD1', 'score': 0.18}]
chr10 GH10I070533 70533809 70535445 0.43 [{'connected_gene': 'YY1P1', 'score': 0.25}, {'connected_gene': 'PRF1', 'score': 0.2}, {'connected_gene': 'PALD1', 'score': 0.18}]
chr10 GH10I070536 70536115 70537197 0.72 [{'connected_gene': 'YY1P1', 'score': 0.23}, {'connected_gene': 'PRF1', 'score': 0.2}, {'connected_gene': 'PALD1', 'score': 0.18}]
chr10 GH10I070528 70528905 70529034 0.83 [{'connected_gene': 'YY1P1', 'score': 0.26}, {'connected_gene': 'PRF1', 'score': 0.19}, {'connected_gene': 'PALD1', 'score': 0.19}]
chr10 GH10I070514 70514005 70514074 0.72 [{'connected_gene': 'YY1P1', 'score': 0.31}, {'connected_gene': 'PALD1', 'score': 0.22}, {'connected_gene': 'PRF1', 'score': 0.17}]
chr10 GH10I070522 70522685 70524185 0.58 [{'connected_gene': 'YY1P1', 'score': 0.28}, {'connected_gene': 'PALD1', 'score': 0.21}, {'connected_gene': 'PRF1', 'score': 0.18}]
chr10 GH10I070490 70490245 70490394 0.4 [{'connected_gene': 'YY1P1', 'score': 0.77}, {'connected_gene': 'PALD1', 'score': 0.29}, {'connected_gene': 'PRF1', 'score': 0.14}]
chr10 GH10I070475 70475765 70475914 0.43 [{'connected_gene': 'YY1P1', 'score': 0.39}, {'connected_gene': 'PALD1', 'score': 0.37}]
chr10 GH10I070485 70485311 70486649 0.43 [{'connected_gene': 'YY1P1', 'score': 550.77}, {'connected_gene': 'PALD1', 'score': 0.31}]