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
ENST00000302746 [[58413356, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419579]] [[58413760, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419536]]
ENST00000383714 [[58413356, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419494, 58419584]] [[58413760, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419494, 58419536]]
ENST00000469364 [[58413377, 58413906], [58414199, 58414341], [58415434, 58415668], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419547]] [[58415612, 58415668], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419536]]
ENST00000485460 [[58413398, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416515], [58416569, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419545]] [[58413760, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416515], [58416569, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419536]]
ENST00000479945 [[58413407, 58414341], [58415434, 58415965], [58416383, 58417520], [58417603, 58419411], [58419494, 58419543]] None
ENST00000474765 [[58413409, 58413906], [58414078, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419494, 58419541]] [[58413854, 58413906], [58414078, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419494, 58419536]]
ENST00000461692 [[58413418, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419566]] None
ENST00000480626 [[58415936, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417711], [58419357, 58419411], [58419494, 58419545]] None
ENST00000482894 [[58417060, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419555]] None
ENST00000469827 [[58417158, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419556]] None
NR_033384 [[58413356, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419566]] None
NM_000925 [[58413356, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419579]] [[58413760, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419536]]
NM_001173468 [[58413356, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416515], [58416569, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419579]] [[58413760, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416515], [58416569, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419357, 58419411], [58419494, 58419536]]
NM_001315536 [[58413356, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419494, 58419579]] [[58413760, 58413906], [58414199, 58414341], [58415434, 58415526], [58415854, 58415965], [58416383, 58416669], [58417319, 58417355], [58417457, 58417520], [58417603, 58417711], [58419494, 58419536]]
Promoter
Chrom Start End Description
chr3 58419537 58419583 CAGE_peak_1_at_PDHB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I058440 58440300 58441155 0.6 [{'connected_gene': 'PXK', 'score': 17.06}, {'connected_gene': 'ACOX2', 'score': 10.91}, {'connected_gene': 'PDHB', 'score': 7.67}, {'connected_gene': 'RPP14', 'score': 6.37}, {'connected_gene': 'ENSG00000272360', 'score': 0.23}]
chr3 GH03I058437 58437099 58437813 0.2 [{'connected_gene': 'PXK', 'score': 22.97}, {'connected_gene': 'ACOX2', 'score': 10.45}, {'connected_gene': 'PDHB', 'score': 8.41}, {'connected_gene': 'ENSG00000272360', 'score': 0.23}]
chr3 GH03I058484 58484000 58485400 0.63 [{'connected_gene': 'PXK', 'score': 20.06}, {'connected_gene': 'ENSG00000272360', 'score': 0.44}, {'connected_gene': 'PDHB', 'score': 0.23}]
chr3 GH03I058409 58409908 58411526 0.38 [{'connected_gene': 'PXK', 'score': 41.77}, {'connected_gene': 'RPP14', 'score': 32.24}, {'connected_gene': 'PDHB', 'score': 11.27}, {'connected_gene': 'HTD2', 'score': 11.02}, {'connected_gene': 'FLNB-AS1', 'score': 10.29}, {'connected_gene': 'FLNB', 'score': 10.27}, {'connected_gene': 'ABHD6', 'score': 7.32}, {'connected_gene': 'ENSG00000272182', 'score': 0.37}, {'connected_gene': 'ENSG00000275607', 'score': 0.29}]
chr3 GH03I058382 58382960 58389838 1.37 [{'connected_gene': 'PXK', 'score': 42.33}, {'connected_gene': 'RPP14', 'score': 33.67}, {'connected_gene': 'FAM107A', 'score': 15.98}, {'connected_gene': 'HTD2', 'score': 11.49}, {'connected_gene': 'ACOX2', 'score': 10.31}, {'connected_gene': 'ENSG00000243384', 'score': 10.17}, {'connected_gene': 'PDHB', 'score': 7.05}, {'connected_gene': 'FLNB-AS1', 'score': 4.69}, {'connected_gene': 'ENSG00000275607', 'score': 0.44}, {'connected_gene': 'ENSG00000272182', 'score': 0.26}]
chr3 GH03I057985 57985862 57986040 0.83 [{'connected_gene': 'PDHB', 'score': 6.15}, {'connected_gene': 'PDE12', 'score': 2.26}, {'connected_gene': 'PXK', 'score': 1.23}, {'connected_gene': 'GC03M057992', 'score': 0.44}, {'connected_gene': 'LOC105377104', 'score': 0.31}]
chr3 GH03I058432 58432709 58436305 2.24 [{'connected_gene': 'PDHB', 'score': 558.54}, {'connected_gene': 'RPP14', 'score': 21.35}, {'connected_gene': 'PXK', 'score': 12.84}, {'connected_gene': 'ABHD6', 'score': 7.41}, {'connected_gene': 'ENSG00000272360', 'score': 0.22}]
chr3 GH03I057966 57966735 57976100 1.64 [{'connected_gene': 'FLNB', 'score': 7.74}, {'connected_gene': 'SLMAP', 'score': 6.29}, {'connected_gene': 'FLNB-AS1', 'score': 5.9}, {'connected_gene': 'PDHB', 'score': 5.31}, {'connected_gene': 'PXK', 'score': 5.07}, {'connected_gene': 'LOC105377104', 'score': 0.39}, {'connected_gene': 'GC03M057992', 'score': 0.34}]
chr3 GH03I058462 58462835 58464443 1.11 [{'connected_gene': 'KCTD6', 'score': 24.33}, {'connected_gene': 'PDHB', 'score': 19.77}, {'connected_gene': 'RPP14', 'score': 17.81}, {'connected_gene': 'PXK', 'score': 14.95}, {'connected_gene': 'DENND6A', 'score': 14.26}, {'connected_gene': 'ACOX2', 'score': 11.4}, {'connected_gene': 'HTD2', 'score': 11.12}, {'connected_gene': 'ENSG00000243384', 'score': 10.55}, {'connected_gene': 'FAM107A', 'score': 10.5}, {'connected_gene': 'FLNB-AS1', 'score': 10.23}, {'connected_gene': 'ENSG00000272360', 'score': 0.31}]
chr3 GH03I058213 58213935 58218000 1.4 [{'connected_gene': 'DNASE1L3', 'score': 562.06}, {'connected_gene': 'RPP14', 'score': 13.12}, {'connected_gene': 'PDHB', 'score': 4.75}, {'connected_gene': 'KCTD6', 'score': 2.83}, {'connected_gene': 'PXK', 'score': 2.3}, {'connected_gene': 'ABHD6', 'score': 0.34}]
chr3 GH03I058291 58291326 58300639 0.6 [{'connected_gene': 'RPP14', 'score': 33.29}, {'connected_gene': 'ABHD6', 'score': 21.78}, {'connected_gene': 'PXK', 'score': 20.51}, {'connected_gene': 'DNASE1L3', 'score': 11.64}, {'connected_gene': 'FLNB-AS1', 'score': 10.94}, {'connected_gene': 'FLNB', 'score': 10.88}, {'connected_gene': 'ACOX2', 'score': 10.17}, {'connected_gene': 'ENSG00000243384', 'score': 9.44}, {'connected_gene': 'FAM107A', 'score': 9.44}, {'connected_gene': 'ENSG00000272182', 'score': 7.43}, {'connected_gene': 'PDHB', 'score': 6.74}]
chr3 GH03I058341 58341783 58346832 0.52 [{'connected_gene': 'RPP14', 'score': 22.62}, {'connected_gene': 'PXK', 'score': 14.19}, {'connected_gene': 'PDHB', 'score': 8.2}, {'connected_gene': 'ABHD6', 'score': 6.29}, {'connected_gene': 'ENSG00000273493', 'score': 5.04}, {'connected_gene': 'ENSG00000243384', 'score': 4.88}, {'connected_gene': 'LOC105377106', 'score': 0.39}]
chr3 GH03I058469 58469934 58473315 1.73 [{'connected_gene': 'RPP14', 'score': 31.64}, {'connected_gene': 'PXK', 'score': 22.34}, {'connected_gene': 'PDHB', 'score': 19.19}, {'connected_gene': 'KCTD6', 'score': 14.29}, {'connected_gene': 'ACOX2', 'score': 11.41}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.11}, {'connected_gene': 'ENSG00000243384', 'score': 9.91}, {'connected_gene': 'ENSG00000272182', 'score': 7.91}, {'connected_gene': 'ENSG00000272360', 'score': 0.37}]
chr3 GH03I058412 58412648 58413327 0.2 [{'connected_gene': 'RPP14', 'score': 33.66}, {'connected_gene': 'PXK', 'score': 25.28}, {'connected_gene': 'PDHB', 'score': 20.6}, {'connected_gene': 'HTD2', 'score': 12.43}, {'connected_gene': 'ACOX2', 'score': 10.58}, {'connected_gene': 'ABHD6', 'score': 10.53}, {'connected_gene': 'FLNB-AS1', 'score': 10.31}, {'connected_gene': 'FLNB', 'score': 10.29}, {'connected_gene': 'ENSG00000272182', 'score': 0.37}, {'connected_gene': 'ENSG00000275607', 'score': 0.29}]
chr3 GH03I058348 58348698 58352446 1.5 [{'connected_gene': 'RPP14', 'score': 22.45}, {'connected_gene': 'PXK', 'score': 13.9}, {'connected_gene': 'FLNB', 'score': 13.67}, {'connected_gene': 'DNASE1L3', 'score': 10.38}, {'connected_gene': 'FLNB-AS1', 'score': 9.34}, {'connected_gene': 'ABHD6', 'score': 7.58}, {'connected_gene': 'PDHB', 'score': 5.53}, {'connected_gene': 'LOC105377106', 'score': 0.77}]
chr3 GH03I058389 58389938 58393023 0.38 [{'connected_gene': 'RPP14', 'score': 32.28}, {'connected_gene': 'PXK', 'score': 24.75}, {'connected_gene': 'HTD2', 'score': 11.09}, {'connected_gene': 'ACOX2', 'score': 10.3}, {'connected_gene': 'ENSG00000243384', 'score': 10.17}, {'connected_gene': 'FAM107A', 'score': 10.15}, {'connected_gene': 'FLNB-AS1', 'score': 10.12}, {'connected_gene': 'FLNB', 'score': 10.1}, {'connected_gene': 'PDHB', 'score': 7.07}, {'connected_gene': 'ABHD6', 'score': 6.27}, {'connected_gene': 'ENSG00000275607', 'score': 0.39}, {'connected_gene': 'ENSG00000272182', 'score': 0.28}]
chr3 GH03I058393 58393398 58401950 0.31 [{'connected_gene': 'RPP14', 'score': 33.05}, {'connected_gene': 'PXK', 'score': 25.64}, {'connected_gene': 'HTD2', 'score': 11.82}, {'connected_gene': 'FLNB-AS1', 'score': 10.16}, {'connected_gene': 'FLNB', 'score': 10.14}, {'connected_gene': 'PDHB', 'score': 9.86}, {'connected_gene': 'ABHD6', 'score': 7.28}, {'connected_gene': 'ENSG00000275607', 'score': 0.37}, {'connected_gene': 'ENSG00000272182', 'score': 0.29}]
chr3 GH03I058486 58486645 58488039 1.24 [{'connected_gene': 'RPP14', 'score': 4.86}, {'connected_gene': 'PDHB', 'score': 4.73}, {'connected_gene': 'ENSG00000272360', 'score': 0.77}]
chr3 GH03I058474 58474401 58475599 1.22 [{'connected_gene': 'RPP14', 'score': 18.56}, {'connected_gene': 'ENSG00000272360', 'score': 0.37}, {'connected_gene': 'PDHB', 'score': 0.26}]
chr3 GH03I058305 58305654 58308963 2.29 [{'connected_gene': 'RPP14', 'score': 591.47}, {'connected_gene': 'HTD2', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 13.74}, {'connected_gene': 'ABHD6', 'score': 9.95}, {'connected_gene': 'PDHB', 'score': 5.59}, {'connected_gene': 'ENSG00000273493', 'score': 5.48}, {'connected_gene': 'PXK', 'score': 4.65}, {'connected_gene': 'PIR62243', 'score': 0.39}]
chr3 GH03I058316 58316913 58319739 0.31 [{'connected_gene': 'PIR62243', 'score': 550.77}, {'connected_gene': 'ACOX2', 'score': 10.62}, {'connected_gene': 'ABHD6', 'score': 10.47}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'PXK', 'score': 9.55}, {'connected_gene': 'ENSG00000272182', 'score': 8.2}, {'connected_gene': 'RPP14', 'score': 6.73}, {'connected_gene': 'PDHB', 'score': 6.09}, {'connected_gene': 'HTD2', 'score': 0.39}]
chr3 GH03I058427 58427770 58428806 0.38 [{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'PXK', 'score': 23.29}, {'connected_gene': 'RPP14', 'score': 17.71}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 7.41}, {'connected_gene': 'PDHB', 'score': 0.44}]
chr3 GH03I058485 58485842 58486400 0.72 [{'connected_gene': 'ENSG00000272360', 'score': 0.44}, {'connected_gene': 'PDHB', 'score': 0.23}]
chr3 GH03I058479 58479001 58479400 0.51 [{'connected_gene': 'ENSG00000272360', 'score': 0.39}, {'connected_gene': 'PDHB', 'score': 0.25}]
chr3 GH03I058428 58428971 58429832 0.38 [{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 32.44}, {'connected_gene': 'PXK', 'score': 23.69}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'PDHB', 'score': 0.77}]
chr3 GH03I058378 58378836 58381027 0.49 [{'connected_gene': 'ENSG00000275607', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 32.69}, {'connected_gene': 'PXK', 'score': 25.2}, {'connected_gene': 'HTD2', 'score': 11.5}, {'connected_gene': 'ACOX2', 'score': 10.31}, {'connected_gene': 'ABHD6', 'score': 7.92}, {'connected_gene': 'PDHB', 'score': 4.23}, {'connected_gene': 'ENSG00000272182', 'score': 0.25}]

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