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
ENST00000527278 [[64342870, 64343163], [64353789, 64353834], [64354125, 64354275], [64357725, 64358432], [64377407, 64377496], [64377958, 64378085], [64378574, 64378670], [64388031, 64389502]] None
ENST00000476730 [[64330549, 64330759], [64339827, 64340617], [64348950, 64350233]] None
ENST00000465954 [[64338037, 64338252], [64338758, 64338873], [64339827, 64340109]] None
ENST00000471926 [[64342890, 64343163], [64348950, 64349246]] None
ENST00000476120 [[64363624, 64363797], [64377958, 64378085], [64378574, 64378670], [64388031, 64389635]] [[64363695, 64363797], [64377958, 64378085], [64378574, 64378670], [64388031, 64389416]]
ENST00000489672 [[64363630, 64363744], [64377407, 64377496], [64377958, 64378085], [64378574, 64378670], [64383763, 64384809]] None
ENST00000319636 [[64363630, 64363744], [64377407, 64377496], [64377958, 64378085], [64378574, 64378670], [64388031, 64389416]] [[64378051, 64378085], [64378574, 64378670], [64388031, 64389416]]
ENST00000545510 [[64363633, 64363797], [64377958, 64378085], [64378574, 64378670], [64383763, 64384595]] [[64363794, 64363797], [64377958, 64378085], [64378574, 64378670], [64383763, 64383783]]
ENST00000395375 [[64363665, 64363797], [64377407, 64377496], [64377958, 64378085], [64378574, 64378670], [64388031, 64391344]] [[64363695, 64363797], [64377407, 64377496], [64377958, 64377968]]
NM_021148 [[64363619, 64363797], [64377958, 64378085], [64378574, 64378670], [64388031, 64391955]] [[64363695, 64363797], [64377958, 64378085], [64378574, 64378670], [64388031, 64389416]]
NR_003099 [[64363619, 64363797], [64377407, 64377496], [64377958, 64378085], [64378574, 64378670], [64388031, 64391955]] None
Promoter
Chrom Start End Description
chr7 64337960 64337986 CAGE_peak_6_at_ZNF273_5end
chr7 64337988 64338010 CAGE_peak_8_at_ZNF273_5end
chr7 64342863 64342905 CAGE_peak_3_at_ZNF273_5end
chr7 64342913 64342935 CAGE_peak_2_at_ZNF273_5end
chr7 64342942 64342975 CAGE_peak_5_at_ZNF273_5end
chr7 64363638 64363667 CAGE_peak_1_at_ZNF273_5end
chr7 64363682 64363692 CAGE_peak_4_at_ZNF273_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I065443 65443397 65446899 0.88 [{'connected_gene': 'CCT6P3', 'score': 19.58}, {'connected_gene': 'ZNF117', 'score': 11.22}, {'connected_gene': 'ZNF273', 'score': 6.84}, {'connected_gene': 'ERV3-1', 'score': 6.29}, {'connected_gene': 'CRCP', 'score': 4.66}, {'connected_gene': 'ENSG00000238124', 'score': 0.37}, {'connected_gene': 'ZNF92', 'score': 0.19}]
chr7 GH07I064866 64866694 64866916 0.22 [{'connected_gene': 'ZNF117', 'score': 14.1}, {'connected_gene': 'GTF2IP14', 'score': 5.66}, {'connected_gene': 'ZNF273', 'score': 0.77}, {'connected_gene': 'EEF1DP4', 'score': 0.77}]
chr7 GH07I064875 64875044 64875167 0.22 [{'connected_gene': 'EEF1DP4', 'score': 42.71}, {'connected_gene': 'ZNF117', 'score': 13.93}, {'connected_gene': 'ZNF680', 'score': 4.22}, {'connected_gene': 'ZNF273', 'score': 0.77}, {'connected_gene': 'LOC441239', 'score': 0.39}]
chr7 GH07I064801 64801886 64802984 0.71 [{'connected_gene': 'EEF1DP4', 'score': 42.77}, {'connected_gene': 'LOC441239', 'score': 11.12}, {'connected_gene': 'ZNF273', 'score': 5.04}, {'connected_gene': 'ZNF138', 'score': 0.44}, {'connected_gene': 'PIR39219', 'score': 0.29}]
chr7 GH07I064904 64904801 64905800 0.69 [{'connected_gene': 'EEF1DP4', 'score': 42.27}, {'connected_gene': 'ZNF273', 'score': 7.48}, {'connected_gene': 'LOC441239', 'score': 0.37}, {'connected_gene': 'VN1R42P', 'score': 0.31}]
chr7 GH07I064907 64907214 64908547 0.62 [{'connected_gene': 'EEF1DP4', 'score': 36.77}, {'connected_gene': 'ZNF273', 'score': 7.25}, {'connected_gene': 'LOC441239', 'score': 0.37}, {'connected_gene': 'VN1R42P', 'score': 0.31}]
chr7 GH07I064892 64891247 64891529 0.69 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 36.18}, {'connected_gene': 'ZNF117', 'score': 13.94}, {'connected_gene': 'ZNF273', 'score': 0.34}, {'connected_gene': 'VN1R42P', 'score': 0.26}]
chr7 GH07I064894 64891907 64892131 0.84 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 4.41}, {'connected_gene': 'ZNF680', 'score': 4.18}, {'connected_gene': 'ZNF273', 'score': 0.34}, {'connected_gene': 'VN1R42P', 'score': 0.26}]
chr7 GH07I064887 64887733 64889600 1.05 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 39.16}, {'connected_gene': 'ZNF273', 'score': 9.25}, {'connected_gene': 'ZNF117', 'score': 7.17}, {'connected_gene': 'ENSG00000234338', 'score': 7.12}]
chr7 GH07I064893 64891608 64891788 0.85 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 36.18}, {'connected_gene': 'ZNF273', 'score': 0.34}, {'connected_gene': 'VN1R42P', 'score': 0.26}]
chr7 GH07I064891 64890665 64890914 0.31 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 36.2}, {'connected_gene': 'ZNF273', 'score': 0.34}, {'connected_gene': 'VN1R42P', 'score': 0.26}]
chr7 GH07I064889 64889647 64889828 0.31 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 40.73}, {'connected_gene': 'ZNF273', 'score': 0.37}]
chr7 GH07I064890 64890252 64890434 0.31 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'ZNF273', 'score': 7.31}, {'connected_gene': 'VN1R42P', 'score': 0.26}]
chr7 GH07I064882 64882400 64882601 0.68 [{'connected_gene': 'LOC441239', 'score': 0.44}, {'connected_gene': 'ZNF273', 'score': 0.39}]
chr7 GH07I064995 64995998 65007771 2.5 [{'connected_gene': 'ERV3-1', 'score': 588.2}, {'connected_gene': 'GTF2IP14', 'score': 61.02}, {'connected_gene': 'CCT6P3', 'score': 49.62}, {'connected_gene': 'INTS4P1', 'score': 33.81}, {'connected_gene': 'ZNF117', 'score': 18.18}, {'connected_gene': 'CCT6P1', 'score': 16.97}, {'connected_gene': 'VKORC1L1', 'score': 15.19}, {'connected_gene': 'ZNF736', 'score': 12.43}, {'connected_gene': 'ENSG00000227113', 'score': 12.28}, {'connected_gene': 'EEF1DP4', 'score': 6.58}, {'connected_gene': 'ZNF680', 'score': 4.33}, {'connected_gene': 'ZNF273', 'score': 3.91}, {'connected_gene': 'VN1R43P', 'score': 0.31}]
chr7 GH07I064877 64877201 64877801 0.68 [{'connected_gene': 'ZNF273', 'score': 7.41}, {'connected_gene': 'ZNF117', 'score': 6.58}, {'connected_gene': 'ZNF107', 'score': 4.31}, {'connected_gene': 'LOC441239', 'score': 0.39}]
chr7 GH07I064902 64902308 64904580 1.98 [{'connected_gene': 'ZNF273', 'score': 557.5}, {'connected_gene': 'EEF1DP4', 'score': 37.67}, {'connected_gene': 'ZNF117', 'score': 13.97}, {'connected_gene': 'GTF2IP14', 'score': 11.84}, {'connected_gene': 'LOC441239', 'score': 0.39}, {'connected_gene': 'VN1R42P', 'score': 0.31}]
chr7 GH07I065080 65080201 65082044 1.13 [{'connected_gene': 'GTF2IP14', 'score': 53.56}, {'connected_gene': 'INTS4P1', 'score': 33.45}, {'connected_gene': 'CCT6P3', 'score': 26.34}, {'connected_gene': 'ZNF117', 'score': 7.32}, {'connected_gene': 'ZNF273', 'score': 5.25}, {'connected_gene': 'ERV3-1', 'score': 4.1}, {'connected_gene': 'ENSG00000227113', 'score': 0.44}]
chr7 GH07I064947 64947201 64948000 0.85 [{'connected_gene': 'LOC105375328', 'score': 550.77}, {'connected_gene': 'VKORC1L1', 'score': 8.41}, {'connected_gene': 'ZNF273', 'score': 7.78}, {'connected_gene': 'PIR39696', 'score': 0.39}]