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
ENST00000465409 [[104183001, 104183329], [104183413, 104183474], [104183554, 104184061]] None
ENST00000369937 [[104183001, 104183329], [104183413, 104183474], [104183554, 104183616], [104183752, 104183935], [104184020, 104184151], [104184255, 104184317], [104184405, 104184549], [104184871, 104184955], [104192282, 104192418]] [[104183182, 104183329], [104183413, 104183474], [104183554, 104183616], [104183752, 104183935], [104184020, 104184151], [104184255, 104184317], [104184405, 104184549], [104184871, 104184945]]
ENST00000486762 [[104183765, 104183935], [104184020, 104184151], [104184255, 104184317], [104184405, 104184549], [104192282, 104192325]] None
ENST00000477994 [[104183787, 104184151], [104184255, 104184317], [104184405, 104184549], [104184871, 104184955], [104192282, 104192341]] None
NM_024040 [[104183001, 104183329], [104183413, 104183474], [104183554, 104183616], [104183752, 104183935], [104184020, 104184151], [104184255, 104184317], [104184405, 104184549], [104184871, 104184955], [104192282, 104192423]] [[104183182, 104183329], [104183413, 104183474], [104183554, 104183616], [104183752, 104183935], [104184020, 104184151], [104184255, 104184317], [104184405, 104184549], [104184871, 104184945]]
Promoter
Chrom Start End Description
chr10 104184955 104184965 CAGE_peak_4_at_CUEDC2_5end
chr10 104192322 104192379 CAGE_peak_1_at_CUEDC2_5end
chr10 104192405 104192440 CAGE_peak_2_at_CUEDC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH10I102449 102449169 102457191 1.59 [{'connected_gene': 'C10orf95', 'score': 558.66}, {'connected_gene': 'RPARP-AS1', 'score': 14.36}, {'connected_gene': 'PPRC1', 'score': 14.09}, {'connected_gene': 'PCGF6', 'score': 13.14}, {'connected_gene': 'PDCD11', 'score': 11.44}, {'connected_gene': 'GBF1', 'score': 11.33}, {'connected_gene': 'MFSD13A', 'score': 10.57}, {'connected_gene': 'SFXN2', 'score': 7.64}, {'connected_gene': 'CYP17A1-AS1', 'score': 5.23}, {'connected_gene': 'CUEDC2', 'score': 4.98}, {'connected_gene': 'GC10M102448', 'score': 0.2}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I102484 102484304 102486305 0.2 [{'connected_gene': 'MFSD13A', 'score': 23.26}, {'connected_gene': 'C10orf95', 'score': 11.76}, {'connected_gene': 'RNU6-43P', 'score': 11.41}, {'connected_gene': 'NFKB2', 'score': 11.39}, {'connected_gene': 'MIR146B', 'score': 11.22}, {'connected_gene': 'CUEDC2', 'score': 11.21}, {'connected_gene': 'PSD', 'score': 11.1}, {'connected_gene': 'FBXL15', 'score': 11.09}, {'connected_gene': 'ELOVL3', 'score': 10.28}, {'connected_gene': 'ENSG00000273262', 'score': 0.77}, {'connected_gene': 'ACTR1A', 'score': 0.37}, {'connected_gene': 'GC10M102448', 'score': 0.28}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I102462 102462732 102464370 0.86 [{'connected_gene': 'MFSD13A', 'score': 40.71}, {'connected_gene': 'MIR146B', 'score': 11.54}, {'connected_gene': 'CUEDC2', 'score': 11.52}, {'connected_gene': 'FBXL15', 'score': 11.45}, {'connected_gene': 'PSD', 'score': 11.45}, {'connected_gene': 'SUFU', 'score': 11.02}, {'connected_gene': 'RNU6-43P', 'score': 10.87}, {'connected_gene': 'NFKB2', 'score': 10.63}, {'connected_gene': 'ELOVL3', 'score': 9.66}, {'connected_gene': 'GC10P102468', 'score': 0.77}, {'connected_gene': 'ACTR1A', 'score': 0.28}, {'connected_gene': 'GC10M102448', 'score': 0.22}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I102478 102478758 102479696 0.93 [{'connected_gene': 'MFSD13A', 'score': 34.93}, {'connected_gene': 'SUFU', 'score': 11.69}, {'connected_gene': 'MIR146B', 'score': 11.59}, {'connected_gene': 'CUEDC2', 'score': 11.58}, {'connected_gene': 'RNU6-43P', 'score': 11.27}, {'connected_gene': 'NFKB2', 'score': 11.2}, {'connected_gene': 'ELOVL3', 'score': 10.29}, {'connected_gene': 'ENSG00000273262', 'score': 0.77}, {'connected_gene': 'PIR54211', 'score': 0.44}, {'connected_gene': 'GC10P102474', 'score': 0.44}, {'connected_gene': 'ACTR1A', 'score': 0.34}, {'connected_gene': 'GC10M102448', 'score': 0.26}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I102625 102625402 102636039 1.59 [{'connected_gene': 'MFSD13A', 'score': 29.82}, {'connected_gene': 'SFXN2', 'score': 8.85}, {'connected_gene': 'ACTR1A', 'score': 5.31}, {'connected_gene': 'CUEDC2', 'score': 4.86}, {'connected_gene': 'GBF1', 'score': 1.58}, {'connected_gene': 'TRIM8', 'score': 0.39}, {'connected_gene': 'RNU6-43P', 'score': 0.28}, {'connected_gene': 'GC10M102383', 'score': 0.21}, {'connected_gene': 'GC10M102382', 'score': 0.21}, {'connected_gene': 'SUFU', 'score': 0.13}]
chr10 GH10I102595 102595093 102606248 1.65 [{'connected_gene': 'MFSD13A', 'score': 41.23}, {'connected_gene': 'SFXN2', 'score': 17.2}, {'connected_gene': 'ACTR1A', 'score': 12.81}, {'connected_gene': 'SUFU', 'score': 11.52}, {'connected_gene': 'C10orf95', 'score': 10.62}, {'connected_gene': 'PSD', 'score': 10.53}, {'connected_gene': 'FBXL15', 'score': 10.52}, {'connected_gene': 'CUEDC2', 'score': 10.52}, {'connected_gene': 'MIR146B', 'score': 10.51}, {'connected_gene': 'ARL3', 'score': 10.49}, {'connected_gene': 'WBP1L', 'score': 1.53}, {'connected_gene': 'RNU6-43P', 'score': 0.44}, {'connected_gene': 'TRIM8', 'score': 0.26}, {'connected_gene': 'GC10M102383', 'score': 0.16}, {'connected_gene': 'GC10M102382', 'score': 0.16}]
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 GH10I102427 102427953 102428012 0.5 [{'connected_gene': 'CUEDC2', 'score': 550.77}, {'connected_gene': 'PSD', 'score': 0.44}, {'connected_gene': 'GC10M102383', 'score': 0.06}, {'connected_gene': 'GC10M102382', 'score': 0.06}]
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 GH10I102467 102467548 102470200 0.87 [{'connected_gene': 'GC10P102468', 'score': 550.77}, {'connected_gene': 'MFSD13A', 'score': 39.59}, {'connected_gene': 'MIR146B', 'score': 12.06}, {'connected_gene': 'CUEDC2', 'score': 12.04}, {'connected_gene': 'SUFU', 'score': 11.7}, {'connected_gene': 'NFKB2', 'score': 11.63}, {'connected_gene': 'RNU6-43P', 'score': 11.53}, {'connected_gene': 'FBXL15', 'score': 11.09}, {'connected_gene': 'PSD', 'score': 11.09}, {'connected_gene': 'ELOVL3', 'score': 10.14}, {'connected_gene': 'RPARP-AS1', 'score': 5.24}, {'connected_gene': 'GC10P102474', 'score': 0.77}, {'connected_gene': 'PIR54211', 'score': 0.77}, {'connected_gene': 'ACTR1A', 'score': 0.29}, {'connected_gene': 'GC10M102448', 'score': 0.23}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I102473 102473524 102473673 0.2 [{'connected_gene': 'PIR54211', 'score': 550.77}, {'connected_gene': 'GC10P102474', 'score': 550.77}, {'connected_gene': 'SUFU', 'score': 11.67}, {'connected_gene': 'MIR146B', 'score': 11.61}, {'connected_gene': 'CUEDC2', 'score': 11.59}, {'connected_gene': 'RNU6-43P', 'score': 11.26}, {'connected_gene': 'NFKB2', 'score': 11.22}, {'connected_gene': 'ELOVL3', 'score': 10.29}, {'connected_gene': 'GC10P102468', 'score': 0.44}, {'connected_gene': 'MFSD13A', 'score': 0.39}, {'connected_gene': 'ACTR1A', 'score': 0.31}, {'connected_gene': 'GC10M102448', 'score': 0.25}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]