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
ENST00000541276 [[10416102, 10416159], [10416521, 10416628], [10418860, 10419067], [10419155, 10419226], [10420024, 10420124], [10420232, 10420959], [10421002, 10421281], [10421528, 10421616], [10426061, 10426168], [10426380, 10426435], [10426527, 10426685]] [[10421247, 10421281], [10421528, 10421616], [10426061, 10426168], [10426380, 10426435], [10426527, 10426681]]
ENST00000393708 [[10420720, 10421318], [10421528, 10421616], [10426061, 10426168], [10426380, 10426435], [10426527, 10426691]] [[10421161, 10421318], [10421528, 10421616], [10426061, 10426168], [10426380, 10426435], [10426527, 10426672]]
ENST00000492239 [[10420892, 10421318], [10421528, 10421616], [10426061, 10426229], [10426380, 10426471]] None
ENST00000494368 [[10421030, 10421318], [10421528, 10421616], [10426061, 10426168], [10426380, 10426435], [10426645, 10426691]] [[10421161, 10421308]]
ENST00000460631 [[10421148, 10421318], [10421528, 10421616], [10426061, 10426435], [10426527, 10426672]] None
ENST00000343376 [[10421171, 10421281], [10421528, 10421616], [10426061, 10426168], [10426380, 10426689]] None
ENST00000453681 [[10421184, 10421318], [10421528, 10421616], [10426061, 10426168], [10426380, 10426686]] None
ENST00000486454 [[10426006, 10426435], [10426527, 10426682]] None
Promoter
Chrom Start End Description
chr19 10426413 10426456 CAGE_peak_2_at_FDX1L_5end
chr19 10426459 10426468 CAGE_peak_5_at_FDX1L_5end
chr19 10426632 10426639 CAGE_peak_3_at_FDX1L_5end
chr19 10426663 10426704 CAGE_peak_1_at_FDX1L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I010700 10700825 10702524 2.07 [{'connected_gene': 'QTRT1', 'score': 568.77}, {'connected_gene': 'ZNF627', 'score': 62.96}, {'connected_gene': 'ILF3', 'score': 58.13}, {'connected_gene': 'LOC100419831', 'score': 51.26}, {'connected_gene': 'FBXL12', 'score': 41.45}, {'connected_gene': 'KRI1', 'score': 36.15}, {'connected_gene': 'DNMT1', 'score': 26.93}, {'connected_gene': 'RAVER1', 'score': 24.94}, {'connected_gene': 'YIPF2', 'score': 23.31}, {'connected_gene': 'CDC37', 'score': 23.04}, {'connected_gene': 'PPAN', 'score': 19.88}, {'connected_gene': 'RPL18AP13', 'score': 18.59}, {'connected_gene': 'ILF3-AS1', 'score': 16.16}, {'connected_gene': 'SMARCA4', 'score': 12.51}, {'connected_gene': 'SWSAP1', 'score': 12.22}, {'connected_gene': 'UBE2L4', 'score': 12.01}, {'connected_gene': 'HNRNPA1P10', 'score': 11.49}, {'connected_gene': 'ZNF887P', 'score': 11.14}, {'connected_gene': 'PRKCSH', 'score': 10.71}, {'connected_gene': 'EIF3G', 'score': 10.43}, {'connected_gene': 'ZNF846', 'score': 10.11}, {'connected_gene': 'FDX2', 'score': 10.11}, {'connected_gene': 'TYK2', 'score': 9.96}, {'connected_gene': 'ENSG00000200237', 'score': 9.72}, {'connected_gene': 'SLC44A2', 'score': 7.56}, {'connected_gene': 'DNM2', 'score': 0.37}]
chr19 GH19I010407 10407770 10409901 1.22 [{'connected_gene': 'TYK2', 'score': 6.0}, {'connected_gene': 'FDX2', 'score': 4.8}, {'connected_gene': 'PDE4A', 'score': 3.76}, {'connected_gene': 'C19orf38', 'score': 2.25}, {'connected_gene': 'ICAM3', 'score': 1.83}, {'connected_gene': 'S1PR5', 'score': 1.54}, {'connected_gene': 'ATG4D', 'score': 1.5}, {'connected_gene': 'P2RY11', 'score': 1.27}, {'connected_gene': 'GC19P010412', 'score': 0.77}, {'connected_gene': 'MIR1181', 'score': 0.44}, {'connected_gene': 'CDC37', 'score': 0.39}]
chr19 GH19I010776 10776462 10777867 1.09 [{'connected_gene': 'KRI1', 'score': 40.11}, {'connected_gene': 'ZNF627', 'score': 35.6}, {'connected_gene': 'ILF3', 'score': 23.8}, {'connected_gene': 'DNMT1', 'score': 21.53}, {'connected_gene': 'YIPF2', 'score': 21.53}, {'connected_gene': 'TIMM29', 'score': 21.37}, {'connected_gene': 'PPAN', 'score': 18.84}, {'connected_gene': 'FBXL12', 'score': 14.01}, {'connected_gene': 'MIR199A1', 'score': 12.61}, {'connected_gene': 'ZNF846', 'score': 11.88}, {'connected_gene': 'RAVER1', 'score': 11.34}, {'connected_gene': 'SLC44A2', 'score': 10.96}, {'connected_gene': 'CDKN2D', 'score': 10.81}, {'connected_gene': 'FDX2', 'score': 10.1}, {'connected_gene': 'CDC37', 'score': 9.92}, {'connected_gene': 'MIR4748', 'score': 0.77}, {'connected_gene': 'PIR47140', 'score': 0.23}, {'connected_gene': 'DNM2', 'score': 0.22}]
chr19 GH19I010100 10100248 10108526 2.61 [{'connected_gene': 'PPAN', 'score': 599.15}, {'connected_gene': 'ANGPTL6', 'score': 552.82}, {'connected_gene': 'PPAN-P2RY11', 'score': 550.77}, {'connected_gene': 'ZNF699', 'score': 100.79}, {'connected_gene': 'ILF3', 'score': 98.71}, {'connected_gene': 'LOC100419831', 'score': 96.44}, {'connected_gene': 'ZNF317', 'score': 84.92}, {'connected_gene': 'FBXL12', 'score': 76.82}, {'connected_gene': 'ZNF559', 'score': 75.85}, {'connected_gene': 'KRI1', 'score': 72.15}, {'connected_gene': 'ZNF561', 'score': 61.99}, {'connected_gene': 'DNMT1', 'score': 58.64}, {'connected_gene': 'ZNF562', 'score': 52.08}, {'connected_gene': 'ZNF121', 'score': 48.32}, {'connected_gene': 'YIPF2', 'score': 42.82}, {'connected_gene': 'RAVER1', 'score': 41.61}, {'connected_gene': 'ZNF177', 'score': 36.98}, {'connected_gene': 'ZNF426', 'score': 30.27}, {'connected_gene': 'CDC37', 'score': 30.22}, {'connected_gene': 'ZNF846', 'score': 29.45}, {'connected_gene': 'TIMM29', 'score': 29.22}, {'connected_gene': 'EIF3G', 'score': 27.67}, {'connected_gene': 'LOC100128428', 'score': 22.25}, {'connected_gene': 'ENSG00000267273', 'score': 18.19}, {'connected_gene': 'QTRT1', 'score': 18.03}, {'connected_gene': 'S1PR5', 'score': 17.2}, {'connected_gene': 'ENSG00000267510', 'score': 14.67}, {'connected_gene': 'SMARCA4', 'score': 12.47}, {'connected_gene': 'P2RY11', 'score': 12.2}, {'connected_gene': 'RPL10P15', 'score': 11.39}, {'connected_gene': 'TYK2', 'score': 11.23}, {'connected_gene': 'ILF3-AS1', 'score': 11.08}, {'connected_gene': 'C19orf66', 'score': 10.35}, {'connected_gene': 'UBE2L4', 'score': 10.02}, {'connected_gene': 'ENSG00000200237', 'score': 9.76}, {'connected_gene': 'FDX2', 'score': 4.37}, {'connected_gene': 'ATG4D', 'score': 2.75}, {'connected_gene': 'ICAM3', 'score': 1.42}, {'connected_gene': 'SNORD105', 'score': 0.77}, {'connected_gene': 'GC19P010110', 'score': 0.77}, {'connected_gene': 'GC19P010091', 'score': 0.39}]
chr19 GH19I010085 10085362 10087876 1.96 [{'connected_gene': 'C19orf66', 'score': 550.77}, {'connected_gene': 'ZNF846', 'score': 11.67}, {'connected_gene': 'RPL10P15', 'score': 10.07}, {'connected_gene': 'FDX2', 'score': 4.36}, {'connected_gene': 'ENSG00000267387', 'score': 0.77}]
chr19 GH19I010005 10005894 10010731 2.14 [{'connected_gene': 'COL5A3', 'score': 588.63}, {'connected_gene': 'LOC100419831', 'score': 33.74}, {'connected_gene': 'ZNF559', 'score': 30.33}, {'connected_gene': 'ZNF177', 'score': 23.84}, {'connected_gene': 'KRI1', 'score': 19.56}, {'connected_gene': 'ZNF121', 'score': 17.32}, {'connected_gene': 'ZNF846', 'score': 15.25}, {'connected_gene': 'ZNF317', 'score': 12.79}, {'connected_gene': 'ENSG00000267510', 'score': 12.58}, {'connected_gene': 'ILF3', 'score': 12.27}, {'connected_gene': 'YIPF2', 'score': 12.05}, {'connected_gene': 'ZNF266', 'score': 11.91}, {'connected_gene': 'ZNF562', 'score': 10.94}, {'connected_gene': 'PPAN', 'score': 10.87}, {'connected_gene': 'TIMM29', 'score': 10.81}, {'connected_gene': 'FBXL12', 'score': 10.66}, {'connected_gene': 'FDX2', 'score': 10.58}, {'connected_gene': 'ILF3-AS1', 'score': 10.32}, {'connected_gene': 'ZNF699', 'score': 10.25}, {'connected_gene': 'DNMT1', 'score': 9.89}, {'connected_gene': 'ENSG00000267650', 'score': 0.39}]
chr19 GH19I010975 10975079 10978198 1.06 [{'connected_gene': 'ZNF441', 'score': 88.25}, {'connected_gene': 'ZNF627', 'score': 66.64}, {'connected_gene': 'ZNF439', 'score': 59.98}, {'connected_gene': 'ILF3', 'score': 48.69}, {'connected_gene': 'ILF3-AS1', 'score': 41.87}, {'connected_gene': 'QTRT1', 'score': 29.45}, {'connected_gene': 'RPL18AP13', 'score': 29.0}, {'connected_gene': 'HNRNPA1P10', 'score': 20.65}, {'connected_gene': 'ZNF823', 'score': 19.89}, {'connected_gene': 'ZNF763', 'score': 19.63}, {'connected_gene': 'TIMM29', 'score': 15.02}, {'connected_gene': 'PPAN', 'score': 13.89}, {'connected_gene': 'KRI1', 'score': 13.37}, {'connected_gene': 'ENSG00000267274', 'score': 10.93}, {'connected_gene': 'ZNF887P', 'score': 10.88}, {'connected_gene': 'FDX2', 'score': 10.55}, {'connected_gene': 'DNMT1', 'score': 10.04}, {'connected_gene': 'EIF3G', 'score': 9.82}, {'connected_gene': 'SMARCA4', 'score': 8.72}, {'connected_gene': 'SLC44A2', 'score': 5.11}, {'connected_gene': 'GC19P011005', 'score': 0.31}]
chr19 GH19I010331 10331814 10335539 1.6 [{'connected_gene': 'RAVER1', 'score': 574.86}, {'connected_gene': 'PIR48013', 'score': 550.77}, {'connected_gene': 'ENSG00000274425', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 36.57}, {'connected_gene': 'LOC100419831', 'score': 33.3}, {'connected_gene': 'ZNF846', 'score': 20.18}, {'connected_gene': 'ZNF266', 'score': 19.61}, {'connected_gene': 'ZNF562', 'score': 19.51}, {'connected_gene': 'ZNF561', 'score': 18.85}, {'connected_gene': 'FBXL12', 'score': 17.09}, {'connected_gene': 'ZNF177', 'score': 14.55}, {'connected_gene': 'KRI1', 'score': 13.27}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'DNMT1', 'score': 11.5}, {'connected_gene': 'EIF3G', 'score': 10.92}, {'connected_gene': 'PPAN', 'score': 10.56}, {'connected_gene': 'ILF3-AS1', 'score': 10.34}, {'connected_gene': 'ZNF426', 'score': 10.32}, {'connected_gene': 'RPS4XP22', 'score': 10.24}, {'connected_gene': 'UBE2L4', 'score': 9.97}, {'connected_gene': 'QTRT1', 'score': 9.7}, {'connected_gene': 'ICAM3', 'score': 9.45}, {'connected_gene': 'FDX2', 'score': 6.89}, {'connected_gene': 'S1PR2', 'score': 4.63}]
chr19 GH19I010314 10314794 10316713 2.04 [{'connected_gene': 'FDX2', 'score': 557.18}, {'connected_gene': 'GC19M010314', 'score': 550.77}, {'connected_gene': 'ENSG00000167807', 'score': 550.77}, {'connected_gene': 'GC19M010317', 'score': 550.77}, {'connected_gene': 'FBXL12', 'score': 17.2}, {'connected_gene': 'ILF3', 'score': 17.02}, {'connected_gene': 'LOC100419831', 'score': 15.62}, {'connected_gene': 'ZNF559', 'score': 15.0}, {'connected_gene': 'ZNF266', 'score': 14.72}, {'connected_gene': 'KRI1', 'score': 14.25}, {'connected_gene': 'LOC100128428', 'score': 13.46}, {'connected_gene': 'ZNF561', 'score': 13.07}, {'connected_gene': 'ZNF562', 'score': 11.78}, {'connected_gene': 'ZNF121', 'score': 11.14}, {'connected_gene': 'ZNF426', 'score': 10.28}, {'connected_gene': 'CDC37', 'score': 9.85}, {'connected_gene': 'ICAM3', 'score': 7.79}, {'connected_gene': 'ENSG00000267303', 'score': 0.77}, {'connected_gene': 'ZGLP1', 'score': 0.44}, {'connected_gene': 'RAVER1', 'score': 0.37}]
chr19 GH19I010321 10321317 10323074 0.59 [{'connected_gene': 'ENSG00000267303', 'score': 550.77}, {'connected_gene': 'RAVER1', 'score': 10.95}, {'connected_gene': 'ICAM3', 'score': 7.83}, {'connected_gene': 'FDX2', 'score': 6.81}, {'connected_gene': 'GC19M010320', 'score': 0.77}]

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