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
ENST00000576510 [[39390339, 39390379], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398289]] [[39395733, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398289]]
ENST00000572515 [[39390591, 39390851], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39399178]] [[39390672, 39390851], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398347]]
ENST00000392079 [[39390614, 39390851], [39395710, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39399531]] [[39390712, 39390851], [39395710, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398347]]
ENST00000575359 [[39390617, 39390719], [39395710, 39395760], [39395841, 39396175], [39397860, 39397917]] [[39390712, 39390719], [39395710, 39395760], [39395841, 39396175], [39397860, 39397917]]
ENST00000509705 [[39390619, 39390851], [39395710, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39399533]] [[39390672, 39390851], [39395710, 39395729]]
ENST00000313582 [[39390638, 39390851], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398299], [39399370, 39399526]] [[39390672, 39390851], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398299], [39399370, 39399472]]
NM_001243116 [[39390339, 39390379], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398299], [39399370, 39399534]] [[39395733, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398299], [39399370, 39399472]]
NR_040515 [[39390569, 39390851], [39395710, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39399534]] None
NM_002503 [[39390569, 39390851], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398299], [39399370, 39399534]] [[39390672, 39390851], [39395654, 39395760], [39395841, 39396175], [39397860, 39397949], [39398038, 39398299], [39399370, 39399472]]
Promoter
Chrom Start End Description
chr19 39390274 39390285 CAGE_peak_11_at_NFKBIB_5end
chr19 39390292 39390315 CAGE_peak_6_at_NFKBIB_5end
chr19 39390320 39390346 CAGE_peak_5_at_NFKBIB_5end
chr19 39390587 39390646 CAGE_peak_1_at_NFKBIB_5end
chr19 39390652 39390663 CAGE_peak_3_at_NFKBIB_5end
chr19 39390667 39390678 CAGE_peak_7_at_NFKBIB_5end
chr19 39390697 39390713 CAGE_peak_4_at_NFKBIB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I038777 38777004 38777581 0.46 [{'connected_gene': 'LGALS7', 'score': 40.79}, {'connected_gene': 'NFKBIB', 'score': 11.33}, {'connected_gene': 'SIRT2', 'score': 11.33}, {'connected_gene': 'CAPN12', 'score': 5.12}, {'connected_gene': 'LGALS7B', 'score': 0.39}]
chr19 GH19I038924 38924109 38925708 0.6 [{'connected_gene': 'SARS2', 'score': 31.61}, {'connected_gene': 'ENSG00000267892', 'score': 6.64}, {'connected_gene': 'NFKBIB', 'score': 3.3}, {'connected_gene': 'ZFP36', 'score': 2.77}, {'connected_gene': 'MAP4K1', 'score': 1.69}, {'connected_gene': 'HNRNPL', 'score': 1.45}, {'connected_gene': 'MRPS12', 'score': 0.44}, {'connected_gene': 'CCER2', 'score': 0.39}, {'connected_gene': 'ENSG00000269547', 'score': 0.34}]
chr19 GH19I038884 38884954 38887285 0.9 [{'connected_gene': 'PAF1', 'score': 11.62}, {'connected_gene': 'SUPT5H', 'score': 10.8}, {'connected_gene': 'SAMD4B', 'score': 10.09}, {'connected_gene': 'SIRT2', 'score': 7.18}, {'connected_gene': 'ERVK9-11', 'score': 6.26}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'NFKBIB', 'score': 0.39}]
chr19 GH19I038898 38898061 38901768 2.12 [{'connected_gene': 'NFKBIB', 'score': 550.77}, {'connected_gene': 'SIRT2', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 59.0}, {'connected_gene': 'FBL', 'score': 53.04}, {'connected_gene': 'SUPT5H', 'score': 29.38}, {'connected_gene': 'ENSG00000269688', 'score': 22.72}, {'connected_gene': 'PLEKHG2', 'score': 22.22}, {'connected_gene': 'RN7SL566P', 'score': 21.67}, {'connected_gene': 'ACTN4', 'score': 20.25}, {'connected_gene': 'SAMD4B', 'score': 19.81}, {'connected_gene': 'RPS16', 'score': 18.96}, {'connected_gene': 'SARS2', 'score': 17.49}, {'connected_gene': 'PAK4', 'score': 14.35}, {'connected_gene': 'ENSG00000267892', 'score': 13.54}, {'connected_gene': 'PAF1', 'score': 11.63}, {'connected_gene': 'ENSG00000268756', 'score': 10.23}, {'connected_gene': 'ERVK9-11', 'score': 10.16}, {'connected_gene': 'FBXO17', 'score': 9.96}, {'connected_gene': 'EID2B', 'score': 9.74}, {'connected_gene': 'C19orf33', 'score': 5.49}, {'connected_gene': 'LGALS4', 'score': 4.17}, {'connected_gene': 'PIR42249', 'score': 0.44}]
chr19 GH19I038891 38891466 38892176 0.31 [{'connected_gene': 'NFKBIB', 'score': 0.44}, {'connected_gene': 'SIRT2', 'score': 0.44}, {'connected_gene': 'GC19M038871', 'score': 0.39}]
chr19 GH19I038893 38893125 38893733 0.31 [{'connected_gene': 'NFKBIB', 'score': 0.44}, {'connected_gene': 'SIRT2', 'score': 0.44}, {'connected_gene': 'GC19M038871', 'score': 0.39}]
chr19 GH19I038890 38890717 38891289 0.4 [{'connected_gene': 'SIRT2', 'score': 7.88}, {'connected_gene': 'NFKBIB', 'score': 0.44}, {'connected_gene': 'GC19M038871', 'score': 0.44}]
chr19 GH19I038887 38887541 38887730 0.92 [{'connected_gene': 'SIRT2', 'score': 7.17}, {'connected_gene': 'GC19M038871', 'score': 0.44}, {'connected_gene': 'NFKBIB', 'score': 0.39}]
chr19 GH19I039073 39073064 39074822 1.63 [{'connected_gene': 'ZNF780B', 'score': 56.59}, {'connected_gene': 'HNRNPL', 'score': 45.83}, {'connected_gene': 'SUPT5H', 'score': 42.91}, {'connected_gene': 'EID2B', 'score': 33.46}, {'connected_gene': 'PAF1', 'score': 32.94}, {'connected_gene': 'ZNF546', 'score': 24.15}, {'connected_gene': 'PAK4', 'score': 22.26}, {'connected_gene': 'FBL', 'score': 22.19}, {'connected_gene': 'MED29', 'score': 15.33}, {'connected_gene': 'ACP7', 'score': 14.1}, {'connected_gene': 'ENSG00000269688', 'score': 13.37}, {'connected_gene': 'RN7SL566P', 'score': 12.09}, {'connected_gene': 'DPF1', 'score': 12.01}, {'connected_gene': 'ERVK9-11', 'score': 11.68}, {'connected_gene': 'FBXO27', 'score': 11.52}, {'connected_gene': 'PLEKHG2', 'score': 11.14}, {'connected_gene': 'RPS16', 'score': 11.01}, {'connected_gene': 'ACTN4', 'score': 10.12}, {'connected_gene': 'ENSG00000268756', 'score': 10.11}, {'connected_gene': 'SAMD4B', 'score': 10.11}, {'connected_gene': 'EID2', 'score': 10.1}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'FBXO17', 'score': 9.93}, {'connected_gene': 'SARS2', 'score': 4.7}, {'connected_gene': 'ZFP36', 'score': 4.61}, {'connected_gene': 'NFKBIB', 'score': 1.55}, {'connected_gene': 'GC19P039085', 'score': 0.44}, {'connected_gene': 'GC19M039038', 'score': 0.29}]
chr19 GH19I039052 39052321 39054664 0.89 [{'connected_gene': 'FBXO27', 'score': 62.81}, {'connected_gene': 'PAK4', 'score': 11.37}, {'connected_gene': 'NFKBIB', 'score': 10.78}, {'connected_gene': 'SIRT2', 'score': 10.78}, {'connected_gene': 'FBXO17', 'score': 9.96}, {'connected_gene': 'GC19M039038', 'score': 0.39}, {'connected_gene': 'GC19P039085', 'score': 0.31}]
chr19 GH19I039061 39061541 39061570 0.74 [{'connected_gene': 'FBXO27', 'score': 12.69}, {'connected_gene': 'PAK4', 'score': 11.38}, {'connected_gene': 'NFKBIB', 'score': 10.78}, {'connected_gene': 'SIRT2', 'score': 10.78}, {'connected_gene': 'FBXO17', 'score': 9.95}, {'connected_gene': 'GC19M039038', 'score': 0.34}, {'connected_gene': 'GC19P039085', 'score': 0.34}]
chr19 GH19I039059 39059689 39059762 0.34 [{'connected_gene': 'FBXO27', 'score': 12.69}, {'connected_gene': 'PAK4', 'score': 11.38}, {'connected_gene': 'SIRT2', 'score': 10.78}, {'connected_gene': 'NFKBIB', 'score': 10.78}, {'connected_gene': 'ACP7', 'score': 1.77}, {'connected_gene': 'LGALS7', 'score': 1.7}, {'connected_gene': 'EID2B', 'score': 1.36}, {'connected_gene': 'GC19M039038', 'score': 0.37}, {'connected_gene': 'GC19P039085', 'score': 0.34}]
chr19 GH19I038424 38424601 38426930 1.71 [{'connected_gene': 'RASGRP4', 'score': 572.57}, {'connected_gene': 'GC19P038425', 'score': 550.77}, {'connected_gene': 'ZNF540', 'score': 17.86}, {'connected_gene': 'ZNF781', 'score': 17.25}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'DPF1', 'score': 12.06}, {'connected_gene': 'ENSG00000267152', 'score': 11.55}, {'connected_gene': 'ZNF793', 'score': 10.7}, {'connected_gene': 'CAPN12', 'score': 4.51}, {'connected_gene': 'NFKBIB', 'score': 3.36}, {'connected_gene': 'RINL', 'score': 2.41}]
chr19 GH19I038883 38883228 38884097 0.74 [{'connected_gene': 'PAK4', 'score': 10.9}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'NFKBIB', 'score': 0.37}, {'connected_gene': 'SIRT2', 'score': 0.37}]
chr19 GH19I038882 38882881 38883050 1.13 [{'connected_gene': 'GC19M038871', 'score': 550.77}, {'connected_gene': 'NFKBIB', 'score': 0.37}, {'connected_gene': 'SIRT2', 'score': 0.37}]
chr19 GH19I038673 38673896 38715876 1.89 [{'connected_gene': 'ENSG00000267375', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 95.38}, {'connected_gene': 'ZNF573', 'score': 63.86}, {'connected_gene': 'ZNF607', 'score': 47.83}, {'connected_gene': 'ACTN4', 'score': 33.45}, {'connected_gene': 'SUPT5H', 'score': 31.32}, {'connected_gene': 'ENSG00000269688', 'score': 30.4}, {'connected_gene': 'PAF1', 'score': 28.68}, {'connected_gene': 'CAPN12', 'score': 21.46}, {'connected_gene': 'PAK4', 'score': 21.08}, {'connected_gene': 'RPS16', 'score': 20.56}, {'connected_gene': 'CATSPERG', 'score': 18.89}, {'connected_gene': 'SAMD4B', 'score': 18.88}, {'connected_gene': 'RN7SL566P', 'score': 18.84}, {'connected_gene': 'EID2B', 'score': 17.21}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'LGALS7', 'score': 14.41}, {'connected_gene': 'DPF1', 'score': 12.02}, {'connected_gene': 'ERVK9-11', 'score': 11.63}, {'connected_gene': 'FBXO27', 'score': 11.56}, {'connected_gene': 'ENSG00000267152', 'score': 11.55}, {'connected_gene': 'LOC100631378', 'score': 11.36}, {'connected_gene': 'ENSG00000267892', 'score': 11.11}, {'connected_gene': 'PLEKHG2', 'score': 10.71}, {'connected_gene': 'LOC644554', 'score': 10.13}, {'connected_gene': 'DLL3', 'score': 10.1}, {'connected_gene': 'EID2', 'score': 10.08}, {'connected_gene': 'FBXO17', 'score': 9.84}, {'connected_gene': 'LGALS7B', 'score': 6.96}, {'connected_gene': 'NFKBIB', 'score': 6.31}, {'connected_gene': 'RYR1', 'score': 4.91}, {'connected_gene': 'RASGRP4', 'score': 1.84}, {'connected_gene': 'C19orf33', 'score': 1.7}, {'connected_gene': 'MAP4K1', 'score': 1.68}, {'connected_gene': 'RINL', 'score': 1.68}, {'connected_gene': 'MRPS12', 'score': 1.56}, {'connected_gene': 'EIF3K', 'score': 1.55}, {'connected_gene': 'FAM98C', 'score': 1.4}, {'connected_gene': 'PSMD8', 'score': 1.4}, {'connected_gene': 'GC19M038690', 'score': 0.77}, {'connected_gene': 'GC19P038683', 'score': 0.39}, {'connected_gene': 'GC19P038675', 'score': 0.37}, {'connected_gene': 'GC19P038713', 'score': 0.37}, {'connected_gene': 'GC19P038678', 'score': 0.37}, {'connected_gene': 'GC19P038714', 'score': 0.37}, {'connected_gene': 'PIR42010', 'score': 0.37}]
chr19 GH19I038934 38934041 38934793 0.64 [{'connected_gene': 'PIR45188', 'score': 550.77}, {'connected_gene': 'FBXO17', 'score': 17.61}, {'connected_gene': 'SARS2', 'score': 13.07}, {'connected_gene': 'NFKBIB', 'score': 12.24}, {'connected_gene': 'SIRT2', 'score': 12.24}, {'connected_gene': 'ERVK9-11', 'score': 8.62}, {'connected_gene': 'ENSG00000269547', 'score': 0.37}]

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