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
ENST00000539804 [[103989942, 103990181], [103990234, 103990858], [103991344, 103991547], [103991719, 103991840]] [[103990270, 103990858], [103991344, 103991547], [103991719, 103991837]]
ENST00000370002 [[103989942, 103990858], [103991344, 103991547], [103991719, 103991849], [104001089, 104001231]] [[103990270, 103990858], [103991344, 103991547], [103991719, 103991837]]
NM_005029 [[103989945, 103990858], [103991344, 103991547], [103991719, 103991849], [104001089, 104001231]] [[103990270, 103990858], [103991344, 103991547], [103991719, 103991837]]
Promoter
Chrom Start End Description
chr10 104001259 104001274 CAGE_peak_1_at_PITX3_5end
chr10 104001289 104001310 CAGE_peak_2_at_PITX3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I102195 102195061 102196074 0.31 [{'connected_gene': 'ELOVL3', 'score': 12.01}, {'connected_gene': 'GBF1', 'score': 11.02}, {'connected_gene': 'PITX3', 'score': 11.02}, {'connected_gene': 'PSD', 'score': 9.96}, {'connected_gene': 'FBXL15', 'score': 9.96}, {'connected_gene': 'NOLC1', 'score': 0.26}]
chr10 GH10I102188 102188292 102189988 0.82 [{'connected_gene': 'ELOVL3', 'score': 11.23}, {'connected_gene': 'PITX3', 'score': 10.88}, {'connected_gene': 'GBF1', 'score': 10.87}, {'connected_gene': 'NOLC1', 'score': 0.28}]
chr10 GH10I102197 102197024 102197173 0.52 [{'connected_gene': 'ELOVL3', 'score': 12.01}, {'connected_gene': 'PITX3', 'score': 11.03}, {'connected_gene': 'GBF1', 'score': 11.02}, {'connected_gene': 'PSD', 'score': 9.96}, {'connected_gene': 'FBXL15', 'score': 9.96}, {'connected_gene': 'NOLC1', 'score': 0.26}]
chr10 GH10I102225 102225199 102227359 1.94 [{'connected_gene': 'ELOVL3', 'score': 550.77}, {'connected_gene': 'KCNIP2-AS1', 'score': 13.78}, {'connected_gene': 'HPS6', 'score': 4.33}, {'connected_gene': 'PITX3', 'score': 0.37}]
chr10 GH10I102169 102169201 102170193 1.11 [{'connected_gene': 'GBF1', 'score': 20.45}, {'connected_gene': 'NOLC1', 'score': 11.79}, {'connected_gene': 'ELOVL3', 'score': 11.56}, {'connected_gene': 'HPS6', 'score': 11.08}, {'connected_gene': 'PITX3', 'score': 10.8}, {'connected_gene': 'PPRC1', 'score': 10.78}, {'connected_gene': 'NFKB2', 'score': 10.58}, {'connected_gene': 'PSD', 'score': 10.29}, {'connected_gene': 'FBXL15', 'score': 10.29}]
chr10 GH10I102309 102309990 102311938 1.1 [{'connected_gene': 'GBF1', 'score': 11.32}, {'connected_gene': 'PITX3', 'score': 11.32}, {'connected_gene': 'ELOVL3', 'score': 10.64}, {'connected_gene': 'FBXL15', 'score': 4.96}, {'connected_gene': 'GC10P102289', 'score': 0.34}, {'connected_gene': 'NFKB2', 'score': 0.18}]
chr10 GH10I102325 102325959 102329333 0.74 [{'connected_gene': 'GBF1', 'score': 11.48}, {'connected_gene': 'PITX3', 'score': 11.47}, {'connected_gene': 'ELOVL3', 'score': 11.22}, {'connected_gene': 'NFKB2', 'score': 10.76}, {'connected_gene': 'RPARP-AS1', 'score': 5.66}, {'connected_gene': 'BORCS7', 'score': 4.94}, {'connected_gene': 'CUEDC2', 'score': 4.78}, {'connected_gene': 'KCNIP2', 'score': 4.77}, {'connected_gene': 'SFXN2', 'score': 3.65}, {'connected_gene': 'GC10P102289', 'score': 0.28}]
chr10 GH10I102352 102352204 102352353 0.68 [{'connected_gene': 'GBF1', 'score': 11.96}, {'connected_gene': 'PITX3', 'score': 11.95}, {'connected_gene': 'ELOVL3', 'score': 11.18}, {'connected_gene': 'NFKB2', 'score': 0.26}, {'connected_gene': 'GC10P102289', 'score': 0.21}]
chr10 GH10I102406 102406685 102411400 1.5 [{'connected_gene': 'GBF1', 'score': 9.75}, {'connected_gene': 'PITX3', 'score': 7.19}, {'connected_gene': 'RPARP-AS1', 'score': 5.24}, {'connected_gene': 'NFKB2', 'score': 0.39}, {'connected_gene': 'PSD', 'score': 0.39}, {'connected_gene': 'FBXL15', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
chr10 GH10I102243 102243424 102243573 0.56 [{'connected_gene': 'GBF1', 'score': 550.77}, {'connected_gene': 'PITX3', 'score': 0.77}]
chr10 GH10I102244 102244396 102247057 2.03 [{'connected_gene': 'GBF1', 'score': 560.46}, {'connected_gene': 'PPRC1', 'score': 15.21}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'PITX3', 'score': 9.27}, {'connected_gene': 'BORCS7', 'score': 5.36}, {'connected_gene': 'RPARP-AS1', 'score': 4.64}, {'connected_gene': 'KCNIP2', 'score': 4.51}, {'connected_gene': 'WBP1L', 'score': 3.8}, {'connected_gene': 'GC10P102286', 'score': 0.26}]
chr10 GH10I102401 102401217 102402750 0.92 [{'connected_gene': 'HPS6', 'score': 7.46}, {'connected_gene': 'PITX3', 'score': 6.52}, {'connected_gene': 'LDB1', 'score': 5.55}, {'connected_gene': 'NFKB2', 'score': 0.44}, {'connected_gene': 'PSD', 'score': 0.37}, {'connected_gene': 'FBXL15', 'score': 0.37}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
chr10 GH10I102333 102333991 102335501 0.63 [{'connected_gene': 'FBXL15', 'score': 14.93}, {'connected_gene': 'ELOVL3', 'score': 10.88}, {'connected_gene': 'GBF1', 'score': 10.85}, {'connected_gene': 'PITX3', 'score': 10.84}, {'connected_gene': 'NFKB2', 'score': 10.6}, {'connected_gene': 'NOLC1', 'score': 10.2}, {'connected_gene': 'PSD', 'score': 10.12}, {'connected_gene': 'GC10P102289', 'score': 0.25}]
chr10 GH10I102282 102282115 102283715 0.31 [{'connected_gene': 'PSD', 'score': 15.61}, {'connected_gene': 'GBF1', 'score': 11.3}, {'connected_gene': 'PITX3', 'score': 11.29}, {'connected_gene': 'ELOVL3', 'score': 10.66}, {'connected_gene': 'FBXL15', 'score': 9.8}, {'connected_gene': 'C10orf95', 'score': 9.68}, {'connected_gene': 'MFSD13A', 'score': 9.67}, {'connected_gene': 'CUEDC2', 'score': 4.74}, {'connected_gene': 'GC10P102286', 'score': 0.77}]
chr10 GH10I102418 102418391 102423500 2.32 [{'connected_gene': 'FBXL15', 'score': 556.03}, {'connected_gene': 'PSD', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 37.08}, {'connected_gene': 'PDCD11', 'score': 29.48}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'GBF1', 'score': 14.03}, {'connected_gene': 'SFXN2', 'score': 13.69}, {'connected_gene': 'NOLC1', 'score': 10.62}, {'connected_gene': 'TAF5', 'score': 10.14}, {'connected_gene': 'RPEL1', 'score': 10.08}, {'connected_gene': 'HPS6', 'score': 8.83}, {'connected_gene': 'PITX3', 'score': 5.23}, {'connected_gene': 'CUEDC2', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
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 GH10I102261 102261275 102264101 0.4 [{'connected_gene': 'PITX3', 'score': 13.37}, {'connected_gene': 'ELOVL3', 'score': 10.81}, {'connected_gene': 'HPS6', 'score': 6.75}, {'connected_gene': 'PSD', 'score': 5.31}, {'connected_gene': 'C10orf95', 'score': 4.94}, {'connected_gene': 'CUEDC2', 'score': 4.33}, {'connected_gene': 'NFKB2', 'score': 4.0}, {'connected_gene': 'GBF1', 'score': 0.37}, {'connected_gene': 'GC10P102286', 'score': 0.34}]
chr10 GH10I102229 102229635 102232253 1.21 [{'connected_gene': 'PITX3', 'score': 8.85}, {'connected_gene': 'ELOVL3', 'score': 0.44}]
chr10 GH10I102234 102234358 102236606 0.63 [{'connected_gene': 'PITX3', 'score': 7.21}, {'connected_gene': 'ELOVL3', 'score': 0.39}]
chr10 GH10I102342 102342256 102344577 0.99 [{'connected_gene': 'PITX3', 'score': 20.12}, {'connected_gene': 'GBF1', 'score': 11.66}, {'connected_gene': 'ELOVL3', 'score': 11.57}, {'connected_gene': 'NOLC1', 'score': 10.52}, {'connected_gene': 'FBXL15', 'score': 10.29}, {'connected_gene': 'PSD', 'score': 10.29}, {'connected_gene': 'C10orf95', 'score': 9.45}, {'connected_gene': 'MFSD13A', 'score': 9.44}, {'connected_gene': 'ACTR1A', 'score': 1.96}, {'connected_gene': 'NFKB2', 'score': 0.23}, {'connected_gene': 'GC10P102289', 'score': 0.23}]
chr10 GH10I102273 102273486 102274725 0.2 [{'connected_gene': 'PITX3', 'score': 20.13}, {'connected_gene': 'GBF1', 'score': 11.7}, {'connected_gene': 'ELOVL3', 'score': 10.84}, {'connected_gene': 'NFKB2', 'score': 10.57}, {'connected_gene': 'GC10P102286', 'score': 0.39}]
chr10 GH10I102312 102312004 102313666 0.77 [{'connected_gene': 'PITX3', 'score': 19.79}, {'connected_gene': 'GBF1', 'score': 11.32}, {'connected_gene': 'ELOVL3', 'score': 10.64}, {'connected_gene': 'POLL', 'score': 6.64}, {'connected_gene': 'GC10P102289', 'score': 0.34}, {'connected_gene': 'NFKB2', 'score': 0.18}]
chr10 GH10I102322 102322769 102325287 0.74 [{'connected_gene': 'PITX3', 'score': 19.27}, {'connected_gene': 'GBF1', 'score': 11.31}, {'connected_gene': 'ELOVL3', 'score': 11.22}, {'connected_gene': 'BORCS7', 'score': 5.27}, {'connected_gene': 'GC10P102289', 'score': 0.29}, {'connected_gene': 'NFKB2', 'score': 0.19}]
chr10 GH10I102267 102267744 102270350 0.69 [{'connected_gene': 'PITX3', 'score': 20.26}, {'connected_gene': 'GBF1', 'score': 12.45}, {'connected_gene': 'ELOVL3', 'score': 10.99}, {'connected_gene': 'BORCS7', 'score': 5.12}, {'connected_gene': 'GC10P102286', 'score': 0.37}]
chr10 GH10I102239 102239887 102242832 1.92 [{'connected_gene': 'PITX3', 'score': 559.08}, {'connected_gene': 'PSD', 'score': 5.84}, {'connected_gene': 'ELOVL3', 'score': 0.37}]
chr10 GH10I102299 102299096 102301120 0.94 [{'connected_gene': 'PITX3', 'score': 8.19}, {'connected_gene': 'RPARP-AS1', 'score': 4.61}, {'connected_gene': 'GC10P102289', 'score': 0.39}, {'connected_gene': 'GBF1', 'score': 0.23}, {'connected_gene': 'NFKB2', 'score': 0.16}]
chr10 GH10I102279 102279142 102281954 1.06 [{'connected_gene': 'NFKB2', 'score': 20.25}, {'connected_gene': 'PPRC1', 'score': 13.57}, {'connected_gene': 'LDB1', 'score': 12.4}, {'connected_gene': 'GBF1', 'score': 11.66}, {'connected_gene': 'PITX3', 'score': 11.66}, {'connected_gene': 'ELOVL3', 'score': 10.81}, {'connected_gene': 'C10orf95', 'score': 10.16}, {'connected_gene': 'MFSD13A', 'score': 10.15}, {'connected_gene': 'HPS6', 'score': 9.93}, {'connected_gene': 'KCNIP2', 'score': 4.77}, {'connected_gene': 'GC10P102286', 'score': 0.44}]
chr10 GH10I102393 102393427 102398124 2.27 [{'connected_gene': 'NFKB2', 'score': 555.02}, {'connected_gene': 'PPRC1', 'score': 14.52}, {'connected_gene': 'GBF1', 'score': 14.04}, {'connected_gene': 'SFXN2', 'score': 13.69}, {'connected_gene': 'C10orf95', 'score': 11.16}, {'connected_gene': 'MFSD13A', 'score': 11.15}, {'connected_gene': 'ELOVL3', 'score': 10.64}, {'connected_gene': 'TAF5', 'score': 10.14}, {'connected_gene': 'PITX3', 'score': 7.99}, {'connected_gene': 'RPARP-AS1', 'score': 6.29}, {'connected_gene': 'BORCS7', 'score': 5.28}, {'connected_gene': 'PSD', 'score': 4.63}, {'connected_gene': 'FBXL15', 'score': 0.34}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
chr10 GH10I102398 102398579 102400533 1.47 [{'connected_gene': 'KCNIP2-AS1', 'score': 10.67}, {'connected_gene': 'HPS6', 'score': 7.46}, {'connected_gene': 'PITX3', 'score': 7.07}, {'connected_gene': 'NFKB2', 'score': 0.44}, {'connected_gene': 'FBXL15', 'score': 0.37}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
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}]

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