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
ENST00000215071 [[38865175, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872868], [38873892, 38874464]] [[38865241, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872868], [38873892, 38874030]]
ENST00000585598 [[38865397, 38865601], [38866799, 38866887], [38873238, 38873487]] [[38865397, 38865601], [38866799, 38866887], [38873238, 38873369]]
ENST00000602911 [[38865398, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872868], [38873892, 38874464]] [[38865430, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872868], [38873892, 38874030]]
ENST00000591216 [[38865409, 38865601], [38866799, 38867094], [38869879, 38870003]] None
ENST00000592561 [[38865411, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872894]] [[38865411, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872894]]
ENST00000592001 [[38865427, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871875]] None
ENST00000592035 [[38865648, 38866149], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38873393]] [[38867059, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872973]]
ENST00000591250 [[38865696, 38865932], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045]] [[38867059, 38867094], [38869879, 38870045]]
ENST00000590331 [[38871538, 38871639], [38871788, 38871952], [38872756, 38872868], [38873892, 38873937]] [[38871538, 38871639], [38871788, 38871879]]
NM_002812 [[38865189, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872868], [38873892, 38874464]] [[38865241, 38865601], [38866799, 38866872], [38866991, 38867094], [38869879, 38870045], [38871538, 38871639], [38872756, 38872868], [38873892, 38874030]]
Promoter
Chrom Start End Description
chr19 38865188 38865195 CAGE_peak_8_at_PSMD8_5end
chr19 38865197 38865226 CAGE_peak_2_at_PSMD8_5end
chr19 38865230 38865255 CAGE_peak_3_at_PSMD8_5end
chr19 38865268 38865284 CAGE_peak_4_at_PSMD8_5end
chr19 38865399 38865435 CAGE_peak_1_at_PSMD8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I038312 38312659 38322581 2.82 [{'connected_gene': 'KCNK6', 'score': 556.04}, {'connected_gene': 'YIF1B', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 58.53}, {'connected_gene': 'C19orf33', 'score': 56.77}, {'connected_gene': 'ZNF527', 'score': 55.4}, {'connected_gene': 'ZNF571', 'score': 42.05}, {'connected_gene': 'ZNF573', 'score': 38.29}, {'connected_gene': 'ZFP30', 'score': 31.61}, {'connected_gene': 'ZNF607', 'score': 24.15}, {'connected_gene': 'ZNF793', 'score': 23.0}, {'connected_gene': 'ENSG00000267682', 'score': 19.7}, {'connected_gene': 'CATSPERG', 'score': 19.64}, {'connected_gene': 'ENSG00000269688', 'score': 18.56}, {'connected_gene': 'SPINT2', 'score': 16.45}, {'connected_gene': 'ZNF540', 'score': 15.77}, {'connected_gene': 'ZNF571-AS1', 'score': 13.96}, {'connected_gene': 'ZNF793-AS1', 'score': 13.74}, {'connected_gene': 'ZNF781', 'score': 13.45}, {'connected_gene': 'PPP1R14A', 'score': 11.47}, {'connected_gene': 'ZNF569', 'score': 11.19}, {'connected_gene': 'ZNF570', 'score': 11.1}, {'connected_gene': 'PAK4', 'score': 10.52}, {'connected_gene': 'ENSG00000268756', 'score': 9.86}, {'connected_gene': 'SELENOKP1', 'score': 9.8}, {'connected_gene': 'RASGRP4', 'score': 9.31}, {'connected_gene': 'PSMD8', 'score': 4.7}, {'connected_gene': 'MAP4K1', 'score': 3.67}, {'connected_gene': 'FAM98C', 'score': 1.95}, {'connected_gene': 'EIF3K', 'score': 1.49}]
chr19 GH19I038002 38002403 38007219 1.74 [{'connected_gene': 'ZNF527', 'score': 66.31}, {'connected_gene': 'ZNF585B', 'score': 66.21}, {'connected_gene': 'ZNF383', 'score': 65.2}, {'connected_gene': 'ZNF585A', 'score': 64.56}, {'connected_gene': 'ZNF420', 'score': 58.12}, {'connected_gene': 'ZNF607', 'score': 56.14}, {'connected_gene': 'ZFP30', 'score': 52.68}, {'connected_gene': 'ZNF793', 'score': 49.62}, {'connected_gene': 'HKR1', 'score': 45.44}, {'connected_gene': 'HNRNPL', 'score': 38.43}, {'connected_gene': 'ZNF573', 'score': 35.73}, {'connected_gene': 'ZNF571', 'score': 35.72}, {'connected_gene': 'ENSG00000267682', 'score': 27.62}, {'connected_gene': 'ZNF781', 'score': 27.61}, {'connected_gene': 'ENSG00000267152', 'score': 23.42}, {'connected_gene': 'ZNF569', 'score': 19.07}, {'connected_gene': 'ZNF540', 'score': 16.68}, {'connected_gene': 'LOC284412', 'score': 13.04}, {'connected_gene': 'LINC01535', 'score': 10.1}, {'connected_gene': 'ENSG00000268756', 'score': 9.86}, {'connected_gene': 'ENSG00000267672', 'score': 9.78}, {'connected_gene': 'GGN', 'score': 4.76}, {'connected_gene': 'DPF1', 'score': 4.64}, {'connected_gene': 'SIPA1L3', 'score': 2.94}, {'connected_gene': 'PSMD8', 'score': 2.27}, {'connected_gene': 'YIF1B', 'score': 1.85}, {'connected_gene': 'SPRED3', 'score': 1.58}, {'connected_gene': 'GC19M038841', 'score': 0.77}, {'connected_gene': 'LOC105372396', 'score': 0.34}]
chr19 GH19I038338 38338637 38339601 0.75 [{'connected_gene': 'C19orf33', 'score': 44.75}, {'connected_gene': 'YIF1B', 'score': 12.7}, {'connected_gene': 'ZNF571', 'score': 12.58}, {'connected_gene': 'ZNF573', 'score': 12.53}, {'connected_gene': 'HNRNPL', 'score': 12.13}, {'connected_gene': 'ZNF527', 'score': 11.67}, {'connected_gene': 'PSMD8', 'score': 11.54}, {'connected_gene': 'ACTN4', 'score': 10.14}, {'connected_gene': 'CATSPERG', 'score': 5.23}, {'connected_gene': 'PPP1R14A', 'score': 4.84}, {'connected_gene': 'GC19M038854', 'score': 0.37}]
chr19 GH19I038373 38373809 38376975 2.12 [{'connected_gene': 'PSMD8', 'score': 556.27}, {'connected_gene': 'HNRNPL', 'score': 75.17}, {'connected_gene': 'ZFP30', 'score': 61.98}, {'connected_gene': 'ZNF571', 'score': 47.47}, {'connected_gene': 'ZNF793', 'score': 35.63}, {'connected_gene': 'ZNF607', 'score': 34.91}, {'connected_gene': 'RN7SL566P', 'score': 28.9}, {'connected_gene': 'ZNF781', 'score': 26.49}, {'connected_gene': 'ZNF540', 'score': 25.78}, {'connected_gene': 'ENSG00000267152', 'score': 25.05}, {'connected_gene': 'ENSG00000269688', 'score': 21.73}, {'connected_gene': 'ZNF569', 'score': 21.71}, {'connected_gene': 'ZNF573', 'score': 18.76}, {'connected_gene': 'CATSPERG', 'score': 16.57}, {'connected_gene': 'KCNK6', 'score': 16.16}, {'connected_gene': 'ZNF570', 'score': 12.94}, {'connected_gene': 'FBXO17', 'score': 11.83}, {'connected_gene': 'FAM98C', 'score': 11.8}, {'connected_gene': 'YIF1B', 'score': 11.08}, {'connected_gene': 'PPP1R14A', 'score': 10.83}, {'connected_gene': 'SPINT2', 'score': 10.82}, {'connected_gene': 'DPF1', 'score': 10.7}, {'connected_gene': 'RASGRP4', 'score': 10.22}, {'connected_gene': 'RYR1', 'score': 10.21}, {'connected_gene': 'ACTN4', 'score': 10.14}, {'connected_gene': 'ENSG00000268756', 'score': 10.09}, {'connected_gene': 'SAMD4B', 'score': 10.07}, {'connected_gene': 'C19orf33', 'score': 5.52}, {'connected_gene': 'GC19P038373', 'score': 0.77}, {'connected_gene': 'ENSG00000267090', 'score': 0.39}]
chr19 GH19I038417 38417225 38418800 1.15 [{'connected_gene': 'PSMD8', 'score': 11.33}, {'connected_gene': 'ZFP30', 'score': 10.69}, {'connected_gene': 'CATSPERG', 'score': 10.52}, {'connected_gene': 'ZNF571', 'score': 9.91}, {'connected_gene': 'FBXO17', 'score': 9.81}, {'connected_gene': 'RASGRP4', 'score': 0.44}, {'connected_gene': 'GC19P038425', 'score': 0.44}, {'connected_gene': 'FAM98C', 'score': 0.39}]
chr19 GH19I038402 38402432 38404001 2.09 [{'connected_gene': 'FAM98C', 'score': 550.77}, {'connected_gene': 'ZNF571', 'score': 61.9}, {'connected_gene': 'ZFP30', 'score': 53.48}, {'connected_gene': 'HNRNPL', 'score': 43.66}, {'connected_gene': 'ZNF781', 'score': 39.67}, {'connected_gene': 'ZNF793', 'score': 39.44}, {'connected_gene': 'ZNF607', 'score': 39.04}, {'connected_gene': 'ZNF573', 'score': 28.12}, {'connected_gene': 'ZNF540', 'score': 25.5}, {'connected_gene': 'ZNF570', 'score': 23.09}, {'connected_gene': 'PAF1', 'score': 21.35}, {'connected_gene': 'ENSG00000267152', 'score': 20.79}, {'connected_gene': 'CATSPERG', 'score': 19.16}, {'connected_gene': 'PAK4', 'score': 14.3}, {'connected_gene': 'ZNF571-AS1', 'score': 13.96}, {'connected_gene': 'ZNF793-AS1', 'score': 13.75}, {'connected_gene': 'ENSG00000267892', 'score': 13.5}, {'connected_gene': 'ENSG00000269688', 'score': 13.34}, {'connected_gene': 'LOC100631378', 'score': 13.06}, {'connected_gene': 'LOC728533', 'score': 12.37}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'ZNF569', 'score': 11.19}, {'connected_gene': 'LOC644554', 'score': 10.45}, {'connected_gene': 'ACTN4', 'score': 10.15}, {'connected_gene': 'ENSG00000268756', 'score': 10.09}, {'connected_gene': 'SAMD4B', 'score': 10.07}, {'connected_gene': 'SELENOKP1', 'score': 9.8}, {'connected_gene': 'LGALS7', 'score': 4.61}, {'connected_gene': 'PSMD8', 'score': 4.6}, {'connected_gene': 'KCNK6', 'score': 4.23}, {'connected_gene': 'GC19P038425', 'score': 0.34}]
chr19 GH19I037997 37997225 38002312 1.53 [{'connected_gene': 'ENSG00000267682', 'score': 15.57}, {'connected_gene': 'ZNF585B', 'score': 13.53}, {'connected_gene': 'ZNF527', 'score': 13.03}, {'connected_gene': 'ZFP30', 'score': 10.72}, {'connected_gene': 'ZNF383', 'score': 10.57}, {'connected_gene': 'HKR1', 'score': 10.04}, {'connected_gene': 'ZNF571', 'score': 9.94}, {'connected_gene': 'FBXO17', 'score': 9.8}, {'connected_gene': 'SPRED3', 'score': 2.42}, {'connected_gene': 'PSMD8', 'score': 2.33}, {'connected_gene': 'SIPA1L3', 'score': 1.67}, {'connected_gene': 'YIF1B', 'score': 1.52}, {'connected_gene': 'PPP1R14A', 'score': 1.44}, {'connected_gene': 'GC19M038841', 'score': 0.77}, {'connected_gene': 'GC19M038838', 'score': 0.31}]
chr19 GH19I038361 38361553 38363150 1.47 [{'connected_gene': 'ENSG00000266963', 'score': 550.77}, {'connected_gene': 'C19orf33', 'score': 43.26}, {'connected_gene': 'CATSPERG', 'score': 19.46}, {'connected_gene': 'SPRED3', 'score': 11.04}, {'connected_gene': 'GGN', 'score': 11.04}, {'connected_gene': 'FAM98C', 'score': 10.99}, {'connected_gene': 'DPF1', 'score': 10.94}, {'connected_gene': 'PSMD8', 'score': 5.37}, {'connected_gene': 'GC19M038854', 'score': 0.44}]
chr19 GH19I038385 38384781 38384950 0.67 [{'connected_gene': 'ENSG00000267090', 'score': 550.77}, {'connected_gene': 'CATSPERG', 'score': 19.53}, {'connected_gene': 'RASGRP4', 'score': 11.37}, {'connected_gene': 'RYR1', 'score': 11.36}, {'connected_gene': 'GGN', 'score': 0.77}, {'connected_gene': 'PSMD8', 'score': 0.39}, {'connected_gene': 'GC19P038373', 'score': 0.39}]
chr19 GH19I038383 38383321 38383470 0.52 [{'connected_gene': 'ENSG00000267090', 'score': 0.77}, {'connected_gene': 'PSMD8', 'score': 0.44}, {'connected_gene': 'GC19P038373', 'score': 0.39}]
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 GH19I038384 38384381 38384530 0.56 [{'connected_gene': 'ENSG00000267090', 'score': 550.77}, {'connected_gene': 'GGN', 'score': 0.77}, {'connected_gene': 'PSMD8', 'score': 0.44}, {'connected_gene': 'GC19P038373', 'score': 0.39}]

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