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
ENST00000351396 [[105127723, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105146931, 105147109], [105147277, 105147455], [105147762, 105148818]] [[105127746, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105146931, 105147109], [105147277, 105147455], [105147762, 105147980]]
ENST00000369839 [[105127723, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105145082, 105145247], [105146931, 105147109], [105147277, 105147455], [105147762, 105148822]] [[105127746, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105145082, 105145247], [105146931, 105147109], [105147277, 105147455], [105147762, 105147980]]
NM_139052 [[105127709, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105146931, 105147109], [105147277, 105147455], [105147762, 105148822]] [[105127746, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105146931, 105147109], [105147277, 105147455], [105147762, 105147980]]
NM_006951 [[105127709, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105145082, 105145247], [105146931, 105147109], [105147277, 105147455], [105147762, 105148822]] [[105127746, 105128305], [105133114, 105133352], [105137991, 105138307], [105139364, 105139528], [105139640, 105139776], [105141477, 105141598], [105142994, 105143124], [105145082, 105145247], [105146931, 105147109], [105147277, 105147455], [105147762, 105147980]]
Promoter
Chrom Start End Description
chr10 105127704 105127749 CAGE_peak_1_at_TAF5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I104316 104316368 104341174 2.81 [{'connected_gene': 'ITPRIP', 'score': 578.89}, {'connected_gene': 'GSTO2', 'score': 20.11}, {'connected_gene': 'PDCD11', 'score': 19.85}, {'connected_gene': 'CFAP58', 'score': 18.41}, {'connected_gene': 'SFR1', 'score': 15.41}, {'connected_gene': 'CFAP58-AS1', 'score': 12.26}, {'connected_gene': 'PCGF6', 'score': 10.39}, {'connected_gene': 'TAF5', 'score': 10.36}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'GSTO1', 'score': 9.75}, {'connected_gene': 'SLK', 'score': 3.03}, {'connected_gene': 'LOC101927472', 'score': 0.44}]
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 GH10I104231 104231572 104233200 2.03 [{'connected_gene': 'CFAP43', 'score': 557.52}, {'connected_gene': 'PDCD11', 'score': 16.94}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'RPEL1', 'score': 10.08}, {'connected_gene': 'GSTO2', 'score': 8.72}, {'connected_gene': 'GSTO1', '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 GH10I103367 103367163 103369346 2.07 [{'connected_gene': 'TAF5', 'score': 561.11}, {'connected_gene': 'PDCD11', 'score': 21.43}, {'connected_gene': 'SFXN2', 'score': 13.66}, {'connected_gene': 'SLK', 'score': 13.12}, {'connected_gene': 'ENSG00000260461', 'score': 11.98}, {'connected_gene': 'CALHM2', 'score': 11.37}, {'connected_gene': 'GC10P103388', 'score': 0.34}]
chr10 GH10I103372 103372918 103374136 0.49 [{'connected_gene': 'TAF5', 'score': 0.44}, {'connected_gene': 'GC10P103388', 'score': 0.37}]
chr10 GH10I102743 102743084 102745733 2.25 [{'connected_gene': 'WBP1L', 'score': 562.36}, {'connected_gene': 'GC10P102745', 'score': 550.77}, {'connected_gene': 'GC10P102744', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 30.75}, {'connected_gene': 'SFXN2', 'score': 29.21}, {'connected_gene': 'AS3MT', 'score': 24.97}, {'connected_gene': 'PCGF6', 'score': 22.86}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'PPRC1', 'score': 15.1}, {'connected_gene': 'NOLC1', 'score': 13.97}, {'connected_gene': 'CYP17A1', 'score': 11.68}, {'connected_gene': 'PTGES3P4', 'score': 11.67}, {'connected_gene': 'PFN1P11', 'score': 11.67}, {'connected_gene': 'ARL3', 'score': 11.13}, {'connected_gene': 'CNNM2', 'score': 10.07}, {'connected_gene': 'GBF1', 'score': 9.73}, {'connected_gene': 'RNU11-3P', 'score': 8.91}, {'connected_gene': 'RNU6-1231P', 'score': 0.22}]
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 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 GH10I103394 103394884 103398147 2.03 [{'connected_gene': 'PDCD11', 'score': 581.49}, {'connected_gene': 'ATP5MD', 'score': 550.77}, {'connected_gene': 'TAF5', 'score': 17.11}, {'connected_gene': 'PCGF6', 'score': 14.47}, {'connected_gene': 'CALHM2', 'score': 7.1}, {'connected_gene': 'AS3MT', 'score': 4.62}]
chr10 GH10I103504 103504033 103505184 1.45 [{'connected_gene': 'PDCD11', 'score': 24.13}, {'connected_gene': 'ENSG00000260461', 'score': 23.81}, {'connected_gene': 'ARL3', 'score': 14.53}, {'connected_gene': 'PCGF6', 'score': 10.47}, {'connected_gene': 'TAF5', 'score': 10.24}, {'connected_gene': 'NEURL1-AS1', 'score': 0.39}, {'connected_gene': 'NEURL1', 'score': 0.39}]
chr10 GH10I103502 103502418 103503979 0.65 [{'connected_gene': 'PDCD11', 'score': 15.78}, {'connected_gene': 'ARL3', 'score': 14.53}, {'connected_gene': 'NEURL1-AS1', 'score': 11.44}, {'connected_gene': 'ENSG00000260461', 'score': 10.63}, {'connected_gene': 'TAF5', 'score': 10.24}, {'connected_gene': 'NEURL1', 'score': 0.44}]
chr10 GH10I104267 104267129 104269928 2.13 [{'connected_gene': 'GSTO2', 'score': 584.81}, {'connected_gene': 'MIR4482', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 30.74}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'GSTO1', 'score': 16.6}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'CFAP58', 'score': 10.76}, {'connected_gene': 'CFAP58-AS1', 'score': 10.74}, {'connected_gene': 'GC10P104302', 'score': 0.29}]
chr10 GH10I102853 102853706 102855201 2.08 [{'connected_gene': 'BORCS7', 'score': 550.77}, {'connected_gene': 'ENSG00000282772', 'score': 550.77}, {'connected_gene': 'BORCS7-ASMT', 'score': 550.77}, {'connected_gene': 'GBF1', 'score': 18.06}, {'connected_gene': 'NOLC1', 'score': 11.45}, {'connected_gene': 'PDCD11', 'score': 10.76}, {'connected_gene': 'RPEL1', 'score': 10.46}, {'connected_gene': 'TAF5', 'score': 10.43}, {'connected_gene': 'SFXN2', 'score': 9.96}, {'connected_gene': 'WBP1L', 'score': 8.64}, {'connected_gene': 'AS3MT', 'score': 6.47}]
chr10 GH10I102855 102855285 102856753 0.96 [{'connected_gene': 'BORCS7', 'score': 550.77}, {'connected_gene': 'ENSG00000282772', 'score': 550.77}, {'connected_gene': 'BORCS7-ASMT', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 55.65}, {'connected_gene': 'TAF5', 'score': 10.37}, {'connected_gene': 'PDCD11', 'score': 9.84}, {'connected_gene': 'GC10P102871', 'score': 0.39}]
chr10 GH10I103965 103965843 103970825 2 [{'connected_gene': 'LOC102724351', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 20.71}, {'connected_gene': 'ENSG00000260461', 'score': 18.82}, {'connected_gene': 'TAF5', 'score': 15.88}, {'connected_gene': 'STN1', 'score': 11.29}, {'connected_gene': 'PCGF6', 'score': 10.19}, {'connected_gene': 'COL17A1', 'score': 9.81}, {'connected_gene': 'GC10P103974', 'score': 0.44}]
chr10 GH10I102501 102501067 102505710 2.08 [{'connected_gene': 'ACTR1A', 'score': 550.77}, {'connected_gene': 'SUFU', 'score': 550.77}, {'connected_gene': 'MFSD13A', 'score': 45.58}, {'connected_gene': 'PDCD11', 'score': 30.74}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'PPRC1', 'score': 15.12}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'RNU6-43P', 'score': 11.6}, {'connected_gene': 'C10orf95', 'score': 11.31}, {'connected_gene': 'FBXL15', 'score': 10.96}, {'connected_gene': 'PSD', 'score': 10.96}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'GBF1', 'score': 9.76}, {'connected_gene': 'RPARP-AS1', 'score': 5.03}, {'connected_gene': 'GC10P102507', 'score': 0.77}, {'connected_gene': 'GC10M102448', 'score': 0.37}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]

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