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
ENST00000372242 [[45100909, 45102129], [45111031, 45111136], [45120611, 45120881], [45125845, 45125967], [45140002, 45140131]] [[45102081, 45102129], [45111031, 45111136], [45120611, 45120881], [45125845, 45125967], [45140002, 45140063]]
ENST00000372243 [[45100909, 45102129], [45111031, 45111136], [45125845, 45125967], [45140002, 45140134]] [[45102081, 45102129], [45111031, 45111136], [45125845, 45125967], [45140002, 45140063]]
ENST00000372244 [[45100909, 45102129], [45111031, 45111136], [45140002, 45140149]] [[45102058, 45102129], [45111031, 45111136], [45140002, 45140063]]
ENST00000495630 [[45101719, 45102129], [45140002, 45140138]] None
ENST00000476724 [[45118918, 45120881], [45140002, 45140114]] None
ENST00000468117 [[45118918, 45120788], [45140002, 45140149]] None
ENST00000372237 [[45118918, 45120881], [45125845, 45125967], [45140002, 45140227]] [[45120230, 45120881], [45125845, 45125967], [45140002, 45140063]]
ENST00000372235 [[45120136, 45120791], [45125845, 45125967], [45140002, 45140115]] [[45120230, 45120791], [45125845, 45125967], [45140002, 45140063]]
ENST00000420706 [[45120567, 45120788], [45125845, 45125967], [45140002, 45140074]] [[45120567, 45120788], [45125845, 45125967], [45140002, 45140063]]
NM_024587 [[45118918, 45120881], [45125845, 45125967], [45140002, 45140280]] [[45120230, 45120881], [45125845, 45125967], [45140002, 45140063]]
NM_001300747 [[45118918, 45120791], [45125845, 45125967], [45140002, 45140280]] [[45120230, 45120791], [45125845, 45125967], [45140002, 45140063]]
NM_001300748 [[45118918, 45120788], [45125845, 45125967], [45140002, 45140280]] [[45120230, 45120788], [45125845, 45125967], [45140002, 45140063]]
NM_001300746 [[45118918, 45120881], [45140002, 45140280]] [[45120230, 45120845]]
Promoter
Chrom Start End Description
chr1 45125953 45125976 CAGE_peak_5_at_TMEM53_5end
chr1 45140081 45140169 CAGE_peak_1_at_TMEM53_5end
chr1 45140230 45140243 CAGE_peak_3_at_TMEM53_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I044641 44641622 44647467 0.69 [{'connected_gene': 'ERI3', 'score': 9.84}, {'connected_gene': 'C1orf228', 'score': 7.18}, {'connected_gene': 'PIR47647', 'score': 0.39}, {'connected_gene': 'GC01P044661', 'score': 0.37}, {'connected_gene': 'TMEM53', 'score': 0.29}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044637 44637339 44638291 1.08 [{'connected_gene': 'DMAP1', 'score': 9.66}, {'connected_gene': 'PIR47647', 'score': 0.44}, {'connected_gene': 'GC01P044661', 'score': 0.34}, {'connected_gene': 'TMEM53', 'score': 0.28}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044635 44635323 44636767 0.43 [{'connected_gene': 'DMAP1', 'score': 9.66}, {'connected_gene': 'C1orf228', 'score': 4.98}, {'connected_gene': 'PIR47647', 'score': 0.44}, {'connected_gene': 'GC01P044661', 'score': 0.31}, {'connected_gene': 'TMEM53', 'score': 0.28}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044658 44658950 44659911 0.2 [{'connected_gene': 'RNF220', 'score': 4.47}, {'connected_gene': 'GC01P044661', 'score': 0.77}, {'connected_gene': 'TMEM53', 'score': 0.37}, {'connected_gene': 'PIR47647', 'score': 0.31}]
chr1 GH01I044706 44706222 44708600 1.26 [{'connected_gene': 'C1orf228', 'score': 11.75}, {'connected_gene': 'TMEM53', 'score': 11.75}, {'connected_gene': 'RNU5D-1', 'score': 11.57}, {'connected_gene': 'KIF2C', 'score': 10.76}, {'connected_gene': 'RNF220', 'score': 8.72}, {'connected_gene': 'GC01P044699', 'score': 0.44}, {'connected_gene': 'GC01M044722', 'score': 0.39}, {'connected_gene': 'RNU5F-1', 'score': 0.39}, {'connected_gene': 'LOC105378690', 'score': 0.37}]
chr1 GH01I044671 44671928 44678273 2.28 [{'connected_gene': 'C1orf228', 'score': 561.64}, {'connected_gene': 'TMEM53', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 24.56}, {'connected_gene': 'MUTYH', 'score': 20.51}, {'connected_gene': 'ARTN', 'score': 11.9}, {'connected_gene': 'RNU5F-1', 'score': 11.62}, {'connected_gene': 'NASP', 'score': 11.41}, {'connected_gene': 'KIF2C', 'score': 10.45}, {'connected_gene': 'BTBD19', 'score': 5.43}, {'connected_gene': 'RPS8', 'score': 4.11}, {'connected_gene': 'GC01P044699', 'score': 0.34}]
chr1 GH01I044654 44654342 44657739 0.67 [{'connected_gene': 'C1orf228', 'score': 5.96}, {'connected_gene': 'RNF220', 'score': 4.39}, {'connected_gene': 'GC01P044661', 'score': 0.44}, {'connected_gene': 'TMEM53', 'score': 0.37}, {'connected_gene': 'PIR47647', 'score': 0.31}]
chr1 GH01I044648 44648667 44648850 0.2 [{'connected_gene': 'C1orf228', 'score': 10.92}, {'connected_gene': 'RNU5F-1', 'score': 10.44}, {'connected_gene': 'GC01P044661', 'score': 0.39}, {'connected_gene': 'PIR47647', 'score': 0.37}, {'connected_gene': 'TMEM53', 'score': 0.31}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044649 44649637 44650928 0.69 [{'connected_gene': 'C1orf228', 'score': 10.95}, {'connected_gene': 'RNU5F-1', 'score': 10.44}, {'connected_gene': 'GC01P044661', 'score': 0.39}, {'connected_gene': 'PIR47647', 'score': 0.37}, {'connected_gene': 'TMEM53', 'score': 0.34}, {'connected_gene': 'RNF220', 'score': 0.07}]
chr1 GH01I044694 44694989 44695138 0.63 [{'connected_gene': 'C1orf228', 'score': 12.2}, {'connected_gene': 'RNU5F-1', 'score': 12.17}, {'connected_gene': 'TMEM53', 'score': 12.17}, {'connected_gene': 'GC01P044699', 'score': 0.77}, {'connected_gene': 'LOC105378690', 'score': 0.31}]
chr1 GH01I044696 44696318 44698333 0.82 [{'connected_gene': 'C1orf228', 'score': 12.76}, {'connected_gene': 'RNU5F-1', 'score': 12.76}, {'connected_gene': 'TMEM53', 'score': 12.23}, {'connected_gene': 'GC01P044699', 'score': 0.77}, {'connected_gene': 'LOC105378690', 'score': 0.31}]
chr1 GH01I044653 44652057 44652915 0.81 [{'connected_gene': 'C1orf228', 'score': 11.02}, {'connected_gene': 'RNU5F-1', 'score': 10.88}, {'connected_gene': 'GC01P044661', 'score': 0.44}, {'connected_gene': 'PIR47647', 'score': 0.34}, {'connected_gene': 'TMEM53', 'score': 0.34}]
chr1 GH01I044664 44664601 44665000 0.43 [{'connected_gene': 'RNU5F-1', 'score': 10.93}, {'connected_gene': 'ERI3', 'score': 9.88}, {'connected_gene': 'DMAP1', 'score': 9.3}, {'connected_gene': 'C1orf228', 'score': 5.19}, {'connected_gene': 'GC01P044661', 'score': 0.77}, {'connected_gene': 'TMEM53', 'score': 0.44}]
chr1 GH01I044670 44670121 44671689 0.2 [{'connected_gene': 'RNU5F-1', 'score': 10.52}, {'connected_gene': 'C1orf228', 'score': 8.65}, {'connected_gene': 'TMEM53', 'score': 0.77}, {'connected_gene': 'GC01P044661', 'score': 0.44}]
chr1 GH01I044652 44652969 44653138 1.03 [{'connected_gene': 'GC01P044661', 'score': 0.44}, {'connected_gene': 'PIR47647', 'score': 0.34}, {'connected_gene': 'TMEM53', 'score': 0.34}]
chr1 GH01I044662 44662568 44662692 0.38 [{'connected_gene': 'GC01P044661', 'score': 550.77}, {'connected_gene': 'TMEM53', 'score': 0.39}]
chr1 GH01I044660 44660249 44660458 0.83 [{'connected_gene': 'GC01P044661', 'score': 550.77}, {'connected_gene': 'TMEM53', 'score': 0.39}, {'connected_gene': 'PIR47647', 'score': 0.31}]
chr1 GH01I044663 44662069 44662218 0.69 [{'connected_gene': 'GC01P044661', 'score': 550.77}, {'connected_gene': 'TMEM53', 'score': 0.39}]

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