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
ENST00000330884 [[44220388, 44221993], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258383]] [[44221880, 44221993], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258262]]
ENST00000432404 [[44220389, 44221993], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44258093, 44258286]] [[44235846, 44235905], [44258093, 44258262]]
ENST00000422525 [[44220389, 44221993], [44223393, 44223520], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258350]] [[44223479, 44223520], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258262]]
ENST00000540422 [[44221348, 44221993], [44224939, 44225078], [44229519, 44229614], [44258093, 44258314]] [[44221880, 44221993], [44224939, 44225078], [44229519, 44229614], [44258093, 44258262]]
ENST00000249130 [[44223479, 44223520], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258398]] [[44223479, 44223520], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258262]]
ENST00000475131 [[44224685, 44225078], [44229519, 44229614], [44234746, 44234793]] None
NM_014351 [[44220386, 44221993], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258378]] [[44221880, 44221993], [44224939, 44225078], [44229519, 44229614], [44234746, 44234873], [44235824, 44235905], [44237681, 44237812], [44258093, 44258262]]
Promoter
Chrom Start End Description
chr22 44258265 44258279 CAGE_peak_3_at_SULT4A1_5end
chr22 44258280 44258336 CAGE_peak_1_at_SULT4A1_5end
chr22 44258360 44258402 CAGE_peak_2_at_SULT4A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I044523 44523024 44525377 0.69 [{'connected_gene': 'RTL6', 'score': 20.7}, {'connected_gene': 'ENSG00000220702', 'score': 10.64}, {'connected_gene': 'SULT4A1', 'score': 9.21}, {'connected_gene': 'GC22P044519', 'score': 0.77}, {'connected_gene': 'LOC105373059', 'score': 0.31}]
chr22 GH22I043901 43901532 43903237 0.52 [{'connected_gene': 'PNPLA3', 'score': 36.85}, {'connected_gene': 'SULT4A1', 'score': 10.9}, {'connected_gene': 'EFCAB6', 'score': 10.71}, {'connected_gene': 'SHISAL1', 'score': 9.75}, {'connected_gene': 'PNPLA5', 'score': 0.39}]
chr22 GH22I043415 43415210 43415605 0.22 [{'connected_gene': 'MPPED1', 'score': 13.7}, {'connected_gene': 'SCUBE1', 'score': 3.98}, {'connected_gene': 'TTLL1', 'score': 2.68}, {'connected_gene': 'SULT4A1', 'score': 1.18}, {'connected_gene': 'GC22P043447', 'score': 0.29}]
chr22 GH22I043897 43897624 43898407 0.49 [{'connected_gene': 'EFCAB6', 'score': 20.57}, {'connected_gene': 'PNPLA3', 'score': 12.27}, {'connected_gene': 'SULT4A1', 'score': 11.36}, {'connected_gene': 'MPPED1', 'score': 10.11}, {'connected_gene': 'PNPLA5', 'score': 0.44}]
chr22 GH22I043825 43825193 43831262 1.05 [{'connected_gene': 'EFCAB6', 'score': 9.24}, {'connected_gene': 'SULT4A1', 'score': 8.11}, {'connected_gene': 'GC22P043826', 'score': 0.77}, {'connected_gene': 'PIR35779', 'score': 0.77}, {'connected_gene': 'LOC105373057', 'score': 0.44}]
chr22 GH22I043848 43848781 43849010 0.56 [{'connected_gene': 'EFCAB6', 'score': 11.41}, {'connected_gene': 'GC22M043840', 'score': 0.77}, {'connected_gene': 'SULT4A1', 'score': 0.39}]
chr22 GH22I043867 43867921 43868110 0.81 [{'connected_gene': 'EFCAB6', 'score': 19.21}, {'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'PNPLA3', 'score': 10.94}, {'connected_gene': 'SAMM50', 'score': 10.34}, {'connected_gene': 'RPL35AP36', 'score': 10.34}, {'connected_gene': 'SHISAL1', 'score': 9.46}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22 GH22I043811 43811401 43813392 1.94 [{'connected_gene': 'EFCAB6', 'score': 559.45}, {'connected_gene': 'ENSG00000261251', 'score': 550.77}, {'connected_gene': 'PNPLA5', 'score': 6.08}, {'connected_gene': 'SULT4A1', 'score': 5.54}]
chr22 GH22I043862 43862400 43862670 1.66 [{'connected_gene': 'SULT4A1', 'score': 556.7}, {'connected_gene': 'EFCAB6', 'score': 5.94}, {'connected_gene': 'PNPLA5', 'score': 0.31}]
chr22 GH22I043706 43706281 43706490 0.38 [{'connected_gene': 'SULT4A1', 'score': 10.21}, {'connected_gene': 'GC22M043712', 'score': 0.44}, {'connected_gene': 'PIR41496', 'score': 0.21}, {'connected_gene': 'EFCAB6', 'score': 0.14}]
chr22 GH22I043789 43789086 43790190 0.76 [{'connected_gene': 'SULT4A1', 'score': 10.48}, {'connected_gene': 'GC22P043785', 'score': 0.77}, {'connected_gene': 'HMGN2P9', 'score': 0.39}, {'connected_gene': 'EFCAB6', 'score': 0.34}]
chr22 GH22I043919 43919401 43919990 0.6 [{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22 GH22I043920 43920654 43922521 0.69 [{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.86}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22 GH22I043915 43915121 43916311 0.54 [{'connected_gene': 'SULT4A1', 'score': 11.66}, {'connected_gene': 'PNPLA5', 'score': 11.09}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.82}, {'connected_gene': 'PNPLA3', 'score': 0.44}]
chr22 GH22I043822 43822401 43824113 0.94 [{'connected_gene': 'SULT4A1', 'score': 11.08}, {'connected_gene': 'GC22P043826', 'score': 0.77}, {'connected_gene': 'PIR35779', 'score': 0.77}, {'connected_gene': 'LOC105373058', 'score': 0.77}]
chr22 GH22I043863 43862221 43862370 0.43 [{'connected_gene': 'SULT4A1', 'score': 550.77}, {'connected_gene': 'GC22M043840', 'score': 0.37}]
chr22 GH22I043868 43868211 43869537 0.72 [{'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'EFCAB6', 'score': 11.04}, {'connected_gene': 'PNPLA3', 'score': 10.44}, {'connected_gene': 'SHISAL1', 'score': 9.15}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22 GH22I043883 43883201 43883370 0.78 [{'connected_gene': 'PNPLA5', 'score': 0.44}, {'connected_gene': 'SULT4A1', 'score': 0.34}]
chr22 GH22I043890 43890813 43892690 1.27 [{'connected_gene': 'PNPLA5', 'score': 550.77}, {'connected_gene': 'SULT4A1', 'score': 0.31}]

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