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
ENST00000302424 [[104404252, 104404944], [104414409, 104414505], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104418164]] [[104404374, 104404944], [104414409, 104414505], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104417111]]
ENST00000462202 [[104404643, 104404944], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104416711]] [[104404643, 104404944], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104416711]]
ENST00000487927 [[104408975, 104409035], [104414409, 104414505], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104416726]] None
ENST00000479004 [[104415037, 104415070], [104415862, 104415894], [104416001, 104416142], [104416503, 104416844]] None
NM_001345950 [[104404251, 104404944], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104418076]] [[104404374, 104404944], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104417111]]
NM_030912 [[104404251, 104404944], [104414409, 104414505], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104418076]] [[104404374, 104404944], [104414409, 104414505], [104414836, 104415070], [104415862, 104415894], [104416026, 104416142], [104416503, 104417111]]
NR_144321 [[104404251, 104404944], [104414409, 104414505], [104414836, 104415070], [104415862, 104415894], [104416001, 104416142], [104416503, 104418076]] None
Promoter
Chrom Start End Description
chr10 104403921 104403965 CAGE_peak_4_at_TRIM8_5end
chr10 104404124 104404137 CAGE_peak_26_at_TRIM8_5end
chr10 104404218 104404252 CAGE_peak_1_at_TRIM8_5end
chr10 104404712 104404726 CAGE_peak_8_at_TRIM8_5end
chr10 104404775 104404890 CAGE_peak_2_at_TRIM8_5end
chr10 104408911 104408922 CAGE_peak_33_at_TRIM8_5end
chr10 104417158 104417232 CAGE_peak_3_at_TRIM8_5end
chr10 104417630 104417634 CAGE_peak_24_at_TRIM8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH10I102610 102610527 102614342 1.32 [{'connected_gene': 'MFSD13A', 'score': 30.35}, {'connected_gene': 'LDB1', 'score': 5.52}, {'connected_gene': 'TRIM8', 'score': 2.75}, {'connected_gene': 'NFKB2', 'score': 1.9}, {'connected_gene': 'RNU6-43P', 'score': 0.34}, {'connected_gene': 'GC10M102383', 'score': 0.18}, {'connected_gene': 'GC10M102382', 'score': 0.18}, {'connected_gene': 'SUFU', 'score': 0.14}]
chr10 GH10I102618 102618726 102622482 1.02 [{'connected_gene': 'MFSD13A', 'score': 30.5}, {'connected_gene': 'SFXN2', 'score': 5.71}, {'connected_gene': 'TRIM8', 'score': 0.34}, {'connected_gene': 'RNU6-43P', 'score': 0.31}, {'connected_gene': 'GC10M102383', 'score': 0.19}, {'connected_gene': 'GC10M102382', 'score': 0.19}, {'connected_gene': 'SUFU', 'score': 0.13}]
chr10 GH10I102617 102617827 102618613 0.31 [{'connected_gene': 'MFSD13A', 'score': 30.4}, {'connected_gene': 'SFXN2', 'score': 4.89}, {'connected_gene': 'TRIM8', 'score': 0.34}, {'connected_gene': 'RNU6-43P', 'score': 0.31}, {'connected_gene': 'GC10M102383', 'score': 0.18}, {'connected_gene': 'GC10M102382', 'score': 0.18}, {'connected_gene': 'SUFU', 'score': 0.13}]
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 GH10I102594 102594580 102594744 0.4 [{'connected_gene': 'MFSD13A', 'score': 29.98}, {'connected_gene': 'RNU6-43P', 'score': 0.77}, {'connected_gene': 'TRIM8', 'score': 0.25}, {'connected_gene': 'SUFU', 'score': 0.16}, {'connected_gene': 'GC10M102383', 'score': 0.15}, {'connected_gene': 'GC10M102382', 'score': 0.15}]
chr10 GH10I102615 102615201 102616978 0.88 [{'connected_gene': 'MFSD13A', 'score': 29.95}, {'connected_gene': 'RNU6-43P', 'score': 0.34}, {'connected_gene': 'TRIM8', 'score': 0.31}, {'connected_gene': 'GC10M102383', 'score': 0.18}, {'connected_gene': 'GC10M102382', 'score': 0.18}, {'connected_gene': 'SUFU', 'score': 0.14}]
chr10 GH10I102808 102808015 102809242 0.46 [{'connected_gene': 'AS3MT', 'score': 8.62}, {'connected_gene': 'BORCS7', 'score': 6.93}, {'connected_gene': 'TRIM8', 'score': 4.4}, {'connected_gene': 'RNU6-1231P', 'score': 0.77}, {'connected_gene': 'CYP17A1-AS1', 'score': 0.34}, {'connected_gene': 'WBP1L', 'score': 0.2}]
chr10 GH10I102656 102656915 102659725 0.94 [{'connected_gene': 'SFXN2', 'score': 24.95}, {'connected_gene': 'ARL3', 'score': 22.4}, {'connected_gene': 'MFSD13A', 'score': 10.52}, {'connected_gene': 'RNU11-3P', 'score': 9.41}, {'connected_gene': 'RPARP-AS1', 'score': 5.89}, {'connected_gene': 'LOC105378460', 'score': 0.77}, {'connected_gene': 'TRIM8', 'score': 0.37}, {'connected_gene': 'GC10M102383', 'score': 0.28}, {'connected_gene': 'GC10M102382', 'score': 0.28}]
chr10 GH10I102592 102592458 102594200 0.76 [{'connected_gene': 'RNU6-43P', 'score': 550.77}, {'connected_gene': 'GC10P102592', 'score': 550.77}, {'connected_gene': 'TRIM8', 'score': 0.25}, {'connected_gene': 'SUFU', 'score': 0.16}, {'connected_gene': 'GC10M102383', 'score': 0.15}, {'connected_gene': 'GC10M102382', 'score': 0.15}]
chr10 GH10I102655 102655997 102656519 0.2 [{'connected_gene': 'LOC105378460', 'score': 550.77}, {'connected_gene': 'SFXN2', 'score': 11.1}, {'connected_gene': 'TRIM8', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.28}, {'connected_gene': 'GC10M102382', 'score': 0.28}]
chr10 GH10I102654 102654284 102655646 0.2 [{'connected_gene': 'LOC105378460', 'score': 550.77}, {'connected_gene': 'SFXN2', 'score': 11.16}, {'connected_gene': 'MFSD13A', 'score': 7.91}, {'connected_gene': 'TRIM8', 'score': 0.39}, {'connected_gene': 'ENSG00000272933', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.28}, {'connected_gene': 'GC10M102382', 'score': 0.28}]