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
ENST00000370033 [[103605355, 103607377], [103609532, 103609649], [103649168, 103649247], [103699619, 103699695], [103716353, 103716480], [103717406, 103717489], [103734968, 103735057], [103750307, 103750368], [103751725, 103751795], [103753294, 103753360], [103755053, 103755112], [103761727, 103761829], [103766296, 103766390], [103769130, 103769206], [103769733, 103769780], [103771479, 103771540], [103772589, 103772633], [103773724, 103773781], [103783233, 103783320], [103783431, 103783506], [103784912, 103785005], [103789394, 103789502], [103792782, 103792929], [103793039, 103793096], [103799769, 103799882], [103815841, 103815950]] [[103607284, 103607377], [103609532, 103609649], [103649168, 103649247], [103699619, 103699695], [103716353, 103716480], [103717406, 103717489], [103734968, 103735057], [103750307, 103750368], [103751725, 103751795], [103753294, 103753360], [103755053, 103755112], [103761727, 103761829], [103766296, 103766390], [103769130, 103769206], [103769733, 103769780], [103771479, 103771540], [103772589, 103772633], [103773724, 103773781], [103783233, 103783320], [103783431, 103783506], [103784912, 103785005], [103789394, 103789502], [103792782, 103792929], [103793039, 103793096], [103799769, 103799871]]
ENST00000311122 [[103789204, 103789502], [103792782, 103792929], [103793039, 103793096], [103799769, 103799882], [103815841, 103815950]] [[103789211, 103789502], [103792782, 103792929], [103793039, 103793096], [103799769, 103799871]]
ENST00000495001 [[103605355, 103607377], [103609532, 103609649], [103649168, 103649493]] None
ENST00000456149 [[103750307, 103750368], [103751725, 103751795], [103755053, 103755112], [103761727, 103761821]] [[103750307, 103750368], [103751725, 103751795], [103755053, 103755112], [103761727, 103761821]]
ENST00000470043 [[103789204, 103789502], [103792689, 103792929], [103793039, 103793195]] None
Promoter
Chrom Start End Description
chr10 103649352 103649390 CAGE_peak_5_at_C10orf76_5end
chr10 103815874 103815953 CAGE_peak_1_at_C10orf76_5end
chr10 103815994 103816012 CAGE_peak_2_at_C10orf76_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I102111 102111944 102123523 2.59 [{'connected_gene': 'LDB1', 'score': 573.75}, {'connected_gene': 'HPS6', 'score': 19.87}, {'connected_gene': 'PPRC1', 'score': 13.82}, {'connected_gene': 'NFKB2', 'score': 13.7}, {'connected_gene': 'NOLC1', 'score': 11.71}, {'connected_gene': 'BORCS7', 'score': 6.22}, {'connected_gene': 'C10orf95', 'score': 4.36}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.19}, {'connected_gene': 'KCNIP2', 'score': 4.08}, {'connected_gene': 'PSD', 'score': 3.0}, {'connected_gene': 'MGEA5', 'score': 2.72}, {'connected_gene': 'FBXL15', 'score': 2.56}, {'connected_gene': 'C10orf76', 'score': 1.88}, {'connected_gene': 'SUFU', 'score': 1.68}, {'connected_gene': 'MFSD13A', 'score': 1.48}, {'connected_gene': 'LOC105378459', 'score': 0.77}, {'connected_gene': 'PIR53149', 'score': 0.44}]
chr10 GH10I102047 102047275 102047502 0.22 [{'connected_gene': 'BTRC', 'score': 4.49}, {'connected_gene': 'C10orf76', 'score': 0.44}, {'connected_gene': 'ENSG00000222430', 'score': 0.16}]
chr10 GH10I102641 102641374 102654052 2.57 [{'connected_gene': 'TRIM8', 'score': 558.94}, {'connected_gene': 'SFXN2', 'score': 36.78}, {'connected_gene': 'MFSD13A', 'score': 26.57}, {'connected_gene': 'RPEL1', 'score': 20.57}, {'connected_gene': 'PDCD11', 'score': 17.56}, {'connected_gene': 'AS3MT', 'score': 17.05}, {'connected_gene': 'PPRC1', 'score': 13.79}, {'connected_gene': 'TAF5', 'score': 13.74}, {'connected_gene': 'LDB1', 'score': 11.83}, {'connected_gene': 'ARL3', 'score': 11.44}, {'connected_gene': 'SUFU', 'score': 11.22}, {'connected_gene': 'GBF1', 'score': 11.11}, {'connected_gene': 'HPS6', 'score': 10.67}, {'connected_gene': 'NOLC1', 'score': 10.6}, {'connected_gene': 'C10orf76', 'score': 5.29}, {'connected_gene': 'NFKB2', 'score': 2.63}, {'connected_gene': 'WBP1L', 'score': 1.37}, {'connected_gene': 'ENSG00000272933', 'score': 0.77}, {'connected_gene': 'LOC105378460', 'score': 0.44}, {'connected_gene': 'GC10M102383', 'score': 0.25}, {'connected_gene': 'GC10M102382', 'score': 0.25}]
chr10 GH10I102511 102511335 102512713 0.8 [{'connected_gene': 'MFSD13A', 'score': 23.53}, {'connected_gene': 'RNU6-43P', 'score': 12.07}, {'connected_gene': 'C10orf95', 'score': 10.47}, {'connected_gene': 'C10orf76', 'score': 4.67}, {'connected_gene': 'GC10P102507', 'score': 0.77}, {'connected_gene': 'SUFU', 'score': 0.44}, {'connected_gene': 'GC10M102448', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.09}, {'connected_gene': 'GC10M102382', 'score': 0.09}]
chr10 GH10I102000 102000169 102004587 1.28 [{'connected_gene': 'HPS6', 'score': 40.59}, {'connected_gene': 'GBF1', 'score': 33.46}, {'connected_gene': 'PPRC1', 'score': 28.79}, {'connected_gene': 'KCNIP2-AS1', 'score': 20.63}, {'connected_gene': 'LDB1', 'score': 20.28}, {'connected_gene': 'ARL3', 'score': 14.53}, {'connected_gene': 'KCNIP2', 'score': 11.87}, {'connected_gene': 'C10orf76', 'score': 10.99}, {'connected_gene': 'MGEA5', 'score': 10.13}, {'connected_gene': 'SFXN2', 'score': 9.87}, {'connected_gene': 'NFKB2', 'score': 6.2}, {'connected_gene': 'WBP1L', 'score': 4.38}, {'connected_gene': 'ENSG00000222430', 'score': 0.25}]
chr10 GH10I101933 101933972 101934351 0.4 [{'connected_gene': 'HPS6', 'score': 15.78}, {'connected_gene': 'ENSG00000222430', 'score': 0.37}, {'connected_gene': 'ENSG00000274742', 'score': 0.34}, {'connected_gene': 'C10orf76', 'score': 0.13}]
chr10 GH10I101971 101971886 101974799 1.06 [{'connected_gene': 'HPS6', 'score': 20.76}, {'connected_gene': 'WBP1L', 'score': 3.83}, {'connected_gene': 'ENSG00000222430', 'score': 0.34}, {'connected_gene': 'C10orf76', 'score': 0.18}]
chr10 GH10I101890 101889744 101889933 0.63 [{'connected_gene': 'HPS6', 'score': 29.7}, {'connected_gene': 'KCNIP2', 'score': 12.01}, {'connected_gene': 'C10orf76', 'score': 10.8}, {'connected_gene': 'ENSG00000274742', 'score': 0.34}, {'connected_gene': 'GC10M101802', 'score': 0.26}, {'connected_gene': 'LOC101927445', 'score': 0.25}]
chr10 GH10I101985 101985423 101987344 1.17 [{'connected_gene': 'HPS6', 'score': 29.32}, {'connected_gene': 'KCNIP2', 'score': 11.22}, {'connected_gene': 'C10orf76', 'score': 10.98}, {'connected_gene': 'ENSG00000222430', 'score': 0.29}]
chr10 GH10I101937 101937121 101941585 1.41 [{'connected_gene': 'HPS6', 'score': 8.08}, {'connected_gene': 'KCNIP2', 'score': 6.3}, {'connected_gene': 'NFKB2', 'score': 5.85}, {'connected_gene': 'NPM3', 'score': 5.4}, {'connected_gene': 'WBP1L', 'score': 3.75}, {'connected_gene': 'ENSG00000222430', 'score': 0.39}, {'connected_gene': 'ENSG00000274742', 'score': 0.31}, {'connected_gene': 'C10orf76', 'score': 0.13}]
chr10 GH10I101966 101966557 101971610 1.12 [{'connected_gene': 'HPS6', 'score': 29.58}, {'connected_gene': 'KCNIP2', 'score': 17.4}, {'connected_gene': 'ARL3', 'score': 12.15}, {'connected_gene': 'C10orf76', 'score': 11.24}, {'connected_gene': 'NPM3', 'score': 5.73}, {'connected_gene': 'C10orf95', 'score': 4.97}, {'connected_gene': 'ENSG00000222430', 'score': 0.37}]
chr10 GH10I101979 101979065 101980727 0.31 [{'connected_gene': 'C10orf76', 'score': 11.24}, {'connected_gene': 'HPS6', 'score': 11.22}, {'connected_gene': 'WBP1L', 'score': 3.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.31}]
chr10 GH10I102057 102057698 102058625 0.92 [{'connected_gene': 'C10orf76', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 19.03}]
chr10 GH10I102054 102054392 102056883 2.07 [{'connected_gene': 'C10orf76', 'score': 554.57}, {'connected_gene': 'KCNIP2', 'score': 4.94}, {'connected_gene': 'ENSG00000222430', 'score': 0.15}]
chr10 GH10I102051 102051503 102051562 0.61 [{'connected_gene': 'C10orf76', 'score': 550.77}, {'connected_gene': 'ENSG00000222430', 'score': 0.15}]
chr10 GH10I102055 102054064 102054213 0.49 [{'connected_gene': 'C10orf76', 'score': 0.77}, {'connected_gene': 'ENSG00000222430', 'score': 0.15}]
chr10 GH10I102052 102052402 102053000 0.31 [{'connected_gene': 'C10orf76', 'score': 0.77}, {'connected_gene': 'ENSG00000222430', 'score': 0.15}]
chr10 GH10I102431 102431457 102436937 2.35 [{'connected_gene': 'CUEDC2', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 25.1}, {'connected_gene': 'PPRC1', 'score': 23.01}, {'connected_gene': 'LDB1', 'score': 21.56}, {'connected_gene': 'PDCD11', 'score': 17.56}, {'connected_gene': 'TAF5', 'score': 13.74}, {'connected_gene': 'SUFU', 'score': 11.31}, {'connected_gene': 'GBF1', 'score': 11.15}, {'connected_gene': 'PCGF6', 'score': 10.86}, {'connected_gene': 'RPARP-AS1', 'score': 6.89}, {'connected_gene': 'PITX3', 'score': 5.98}, {'connected_gene': 'C10orf95', 'score': 4.76}, {'connected_gene': 'C10orf76', 'score': 4.6}, {'connected_gene': 'BORCS7', 'score': 4.57}, {'connected_gene': 'MIR146B', 'score': 0.77}, {'connected_gene': 'GC10P102438', 'score': 0.77}, {'connected_gene': 'GC10P102437', 'score': 0.77}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I101692 101692776 101695918 2.33 [{'connected_gene': 'FBXW4', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 40.74}, {'connected_gene': 'GBF1', 'score': 32.68}, {'connected_gene': 'MRPL43', 'score': 30.36}, {'connected_gene': 'LDB1', 'score': 23.72}, {'connected_gene': 'ENSG00000272572', 'score': 22.8}, {'connected_gene': 'HPS6', 'score': 17.22}, {'connected_gene': 'TWNK', 'score': 10.82}, {'connected_gene': 'SUFU', 'score': 10.73}, {'connected_gene': 'LZTS2', 'score': 10.04}, {'connected_gene': 'C10orf76', 'score': 10.01}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'BTRC', 'score': 5.64}, {'connected_gene': 'DPCD', 'score': 4.6}, {'connected_gene': 'MGEA5', 'score': 1.23}, {'connected_gene': 'RNU6-1165P', 'score': 0.19}]
chr10 GH10I102916 102916495 102920802 2.06 [{'connected_gene': 'CNNM2', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 37.09}, {'connected_gene': 'PDCD11', 'score': 26.85}, {'connected_gene': 'GBF1', 'score': 18.59}, {'connected_gene': 'TAF5', 'score': 16.85}, {'connected_gene': 'PPRC1', 'score': 15.33}, {'connected_gene': 'C10orf76', 'score': 11.08}, {'connected_gene': 'ENSG00000260461', 'score': 10.21}, {'connected_gene': 'LDB1', 'score': 10.08}, {'connected_gene': 'MARCKSL1P1', 'score': 9.2}, {'connected_gene': 'WBP1L', 'score': 4.44}, {'connected_gene': 'GC10M102937', 'score': 0.37}]
chr10 GH10I101224 101224707 101231200 1.45 [{'connected_gene': 'LBX1-AS1', 'score': 558.42}, {'connected_gene': 'GC10M101227', 'score': 550.77}, {'connected_gene': 'LBX1', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 27.38}, {'connected_gene': 'PPRC1', 'score': 26.96}, {'connected_gene': 'LDB1', 'score': 20.66}, {'connected_gene': 'CHUK', 'score': 20.06}, {'connected_gene': 'ENSG00000272572', 'score': 11.34}, {'connected_gene': 'C10orf76', 'score': 11.08}, {'connected_gene': 'SEC31B', 'score': 10.92}, {'connected_gene': 'MRPL43', 'score': 10.59}, {'connected_gene': 'HPS6', 'score': 9.88}, {'connected_gene': 'LZTS2', 'score': 9.84}, {'connected_gene': 'PDZD7', 'score': 9.72}, {'connected_gene': 'SFXN3', 'score': 4.16}]
chr10 GH10I101906 101906438 101907385 0.2 [{'connected_gene': 'KCNIP2', 'score': 10.63}, {'connected_gene': 'C10orf95', 'score': 3.98}, {'connected_gene': 'ENSG00000274742', 'score': 0.44}, {'connected_gene': 'GC10M101802', 'score': 0.22}, {'connected_gene': 'LOC101927445', 'score': 0.2}, {'connected_gene': 'C10orf76', 'score': 0.11}]
chr10 GH10I101960 101960278 101963301 1.07 [{'connected_gene': 'KCNIP2', 'score': 16.8}, {'connected_gene': 'HPS6', 'score': 16.63}, {'connected_gene': 'NPM3', 'score': 5.75}, {'connected_gene': 'ENSG00000222430', 'score': 0.44}, {'connected_gene': 'C10orf76', 'score': 0.16}]
chr10 GH10I101889 101889214 101889714 0.62 [{'connected_gene': 'KCNIP2', 'score': 12.01}, {'connected_gene': 'C10orf76', 'score': 10.8}, {'connected_gene': 'HPS6', 'score': 10.79}, {'connected_gene': 'ENSG00000274742', 'score': 0.34}, {'connected_gene': 'GC10M101802', 'score': 0.26}, {'connected_gene': 'LOC101927445', 'score': 0.25}]
chr10 GH10I101905 101905444 101905553 0.2 [{'connected_gene': 'KCNIP2', 'score': 10.99}, {'connected_gene': 'C10orf76', 'score': 10.89}, {'connected_gene': 'HPS6', 'score': 10.89}, {'connected_gene': 'ENSG00000274742', 'score': 0.44}, {'connected_gene': 'GC10M101802', 'score': 0.22}, {'connected_gene': 'LOC101927445', 'score': 0.2}]
chr10 GH10I101900 101900890 101904791 1.1 [{'connected_gene': 'KCNIP2', 'score': 11.05}, {'connected_gene': 'C10orf76', 'score': 10.89}, {'connected_gene': 'HPS6', 'score': 10.89}, {'connected_gene': 'ENSG00000274742', 'score': 0.39}, {'connected_gene': 'GC10M101802', 'score': 0.23}, {'connected_gene': 'LOC101927445', 'score': 0.21}]
chr10 GH10I101888 101888799 101889135 0.6 [{'connected_gene': 'KCNIP2', 'score': 12.01}, {'connected_gene': 'C10orf76', 'score': 10.8}, {'connected_gene': 'HPS6', 'score': 10.79}, {'connected_gene': 'ENSG00000274742', 'score': 0.34}, {'connected_gene': 'GC10M101802', 'score': 0.26}, {'connected_gene': 'LOC101927445', 'score': 0.25}]
chr10 GH10I101893 101893909 101895125 0.62 [{'connected_gene': 'KCNIP2', 'score': 12.0}, {'connected_gene': 'C10orf76', 'score': 10.79}, {'connected_gene': 'HPS6', 'score': 10.79}, {'connected_gene': 'ENSG00000274742', 'score': 0.37}, {'connected_gene': 'GC10M101802', 'score': 0.25}, {'connected_gene': 'LOC101927445', 'score': 0.23}]
chr10 GH10I102007 102007703 102008402 0.2 [{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10 GH10I102009 102009800 102010201 1.24 [{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10 GH10I101958 101958034 101958255 0.44 [{'connected_gene': 'KCNIP2', 'score': 17.08}, {'connected_gene': 'C10orf76', 'score': 1.46}, {'connected_gene': 'ENSG00000222430', 'score': 0.44}]
chr10 GH10I101995 101995701 101996187 0.86 [{'connected_gene': 'KCNIP2', 'score': 16.63}, {'connected_gene': 'ENSG00000222430', 'score': 0.26}, {'connected_gene': 'C10orf76', 'score': 0.21}]
chr10 GH10I101878 101878924 101880884 0.64 [{'connected_gene': 'KCNIP2', 'score': 11.32}, {'connected_gene': 'ENSG00000274742', 'score': 0.29}, {'connected_gene': 'GC10M101802', 'score': 0.29}, {'connected_gene': 'LOC101927445', 'score': 0.28}, {'connected_gene': 'C10orf76', 'score': 0.1}]
chr10 GH10I101828 101828804 101833162 1.99 [{'connected_gene': 'PPRC1', 'score': 112.1}, {'connected_gene': 'LDB1', 'score': 91.92}, {'connected_gene': 'GBF1', 'score': 71.2}, {'connected_gene': 'LZTS2', 'score': 64.11}, {'connected_gene': 'MRPL43', 'score': 56.79}, {'connected_gene': 'HPS6', 'score': 53.36}, {'connected_gene': 'NOLC1', 'score': 28.51}, {'connected_gene': 'SUFU', 'score': 24.39}, {'connected_gene': 'ENSG00000272572', 'score': 22.79}, {'connected_gene': 'KCNIP2-AS1', 'score': 16.81}, {'connected_gene': 'SFXN2', 'score': 13.66}, {'connected_gene': 'C10orf76', 'score': 11.15}, {'connected_gene': 'KCNIP2', 'score': 10.87}, {'connected_gene': 'SLF2', 'score': 10.29}, {'connected_gene': 'ARL3', 'score': 10.1}, {'connected_gene': 'TWNK', 'score': 10.04}, {'connected_gene': 'NFKB2', 'score': 9.69}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'NPM3', 'score': 6.42}, {'connected_gene': 'RPARP-AS1', 'score': 3.8}, {'connected_gene': 'BTRC', 'score': 1.76}, {'connected_gene': 'LOC101927445', 'score': 0.44}, {'connected_gene': 'GC10M101802', 'score': 0.37}]
chr10 GH10I101947 101947924 101951045 0.76 [{'connected_gene': 'PPRC1', 'score': 51.04}, {'connected_gene': 'MRPL43', 'score': 49.15}, {'connected_gene': 'GBF1', 'score': 45.47}, {'connected_gene': 'LDB1', 'score': 35.76}, {'connected_gene': 'ARL3', 'score': 24.86}, {'connected_gene': 'TWNK', 'score': 18.83}, {'connected_gene': 'LZTS2', 'score': 14.66}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.61}, {'connected_gene': 'SFXN2', 'score': 9.87}, {'connected_gene': 'KCNIP2', 'score': 6.29}, {'connected_gene': 'WBP1L', 'score': 3.82}, {'connected_gene': 'ENSG00000222430', 'score': 0.77}, {'connected_gene': 'ENSG00000274742', 'score': 0.28}, {'connected_gene': 'C10orf76', 'score': 0.14}]
chr10 GH10I101858 101858366 101860237 0.46 [{'connected_gene': 'FGF8', 'score': 10.4}, {'connected_gene': 'PPRC1', 'score': 10.32}, {'connected_gene': 'GC10M101802', 'score': 0.39}, {'connected_gene': 'LOC101927445', 'score': 0.37}, {'connected_gene': 'ENSG00000274742', 'score': 0.23}, {'connected_gene': 'C10orf76', 'score': 0.08}]
chr10 GH10I102290 102290898 102292011 0.58 [{'connected_gene': 'GC10P102289', 'score': 550.77}, {'connected_gene': 'GBF1', 'score': 11.1}, {'connected_gene': 'PITX3', 'score': 11.1}, {'connected_gene': 'ELOVL3', 'score': 10.69}, {'connected_gene': 'C10orf76', 'score': 7.45}, {'connected_gene': 'PSD', 'score': 5.43}, {'connected_gene': 'HPS6', 'score': 4.26}, {'connected_gene': 'NFKB2', 'score': 0.15}]
chr10 GH10I101848 101848002 101849599 0.74 [{'connected_gene': 'PIR36625', 'score': 550.77}, {'connected_gene': 'GC10M101802', 'score': 550.77}, {'connected_gene': 'GC10P101847', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 18.44}, {'connected_gene': 'ENSG00000272933', 'score': 4.34}, {'connected_gene': 'LOC101927445', 'score': 0.44}, {'connected_gene': 'ENSG00000274742', 'score': 0.21}, {'connected_gene': 'C10orf76', 'score': 0.08}]
chr10 GH10I101951 101951457 101953421 0.31 [{'connected_gene': 'ENSG00000222430', 'score': 550.77}, {'connected_gene': 'KCNIP2', 'score': 11.04}, {'connected_gene': 'HPS6', 'score': 8.44}, {'connected_gene': 'ENSG00000274742', 'score': 0.28}, {'connected_gene': 'C10orf76', 'score': 0.15}]