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
ENST00000595291 [[39292310, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294310], [39297100, 39297147]] [[39294240, 39294310], [39297100, 39297147]]
ENST00000307751 [[39292318, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294191], [39294381, 39294420], [39294508, 39294535], [39297100, 39297235], [39299383, 39299588], [39303070, 39303159], [39303481, 39304004]] [[39292403, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294191], [39294381, 39294420], [39294508, 39294535], [39297100, 39297235], [39299383, 39299588], [39303070, 39303159], [39303481, 39303526]]
ENST00000600070 [[39292398, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294191], [39294508, 39294535], [39297100, 39297235], [39299383, 39299445]] [[39292403, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294191], [39294508, 39294535], [39297100, 39297235], [39299383, 39299445]]
ENST00000595342 [[39292522, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294291]] None
ENST00000597153 [[39292982, 39293044], [39294161, 39294535], [39297100, 39297235], [39299383, 39299588], [39303070, 39303159], [39303481, 39303585]] None
ENST00000595278 [[39293659, 39294535], [39297100, 39297235], [39299383, 39299588], [39303070, 39303159], [39303481, 39303521]] None
ENST00000596628 [[39294296, 39294420], [39294508, 39294535], [39297100, 39297235], [39299383, 39299588]] None
ENST00000597803 [[39297100, 39297235], [39303070, 39303159], [39303481, 39303585]] None
ENST00000594209 [[39299537, 39299588], [39303070, 39303585]] [[39299537, 39299588], [39303070, 39303114]]
NM_006149 [[39292310, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294191], [39294381, 39294420], [39294508, 39294535], [39297100, 39297235], [39299383, 39299588], [39303070, 39303159], [39303481, 39303740]] [[39292403, 39292550], [39292631, 39292797], [39292955, 39293044], [39294161, 39294191], [39294381, 39294420], [39294508, 39294535], [39297100, 39297235], [39299383, 39299588], [39303070, 39303159], [39303481, 39303526]]
Promoter
Chrom Start End Description
chr19 39303576 39303591 CAGE_peak_1_at_LGALS4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I038030 38030629 38038198 1.52 [{'connected_gene': 'ZNF585B', 'score': 50.95}, {'connected_gene': 'ZNF585A', 'score': 49.59}, {'connected_gene': 'ZFP30', 'score': 49.54}, {'connected_gene': 'ZNF527', 'score': 46.8}, {'connected_gene': 'ZNF607', 'score': 41.39}, {'connected_gene': 'ZNF793', 'score': 38.25}, {'connected_gene': 'HKR1', 'score': 37.35}, {'connected_gene': 'ZNF569', 'score': 23.28}, {'connected_gene': 'LOC284412', 'score': 22.15}, {'connected_gene': 'ENSG00000267152', 'score': 18.56}, {'connected_gene': 'ZNF570', 'score': 17.38}, {'connected_gene': 'ENSG00000267682', 'score': 16.7}, {'connected_gene': 'ZNF781', 'score': 15.86}, {'connected_gene': 'ZNF573', 'score': 15.5}, {'connected_gene': 'CATSPERG', 'score': 14.54}, {'connected_gene': 'ZNF540', 'score': 13.66}, {'connected_gene': 'ERVK9-11', 'score': 11.59}, {'connected_gene': 'LOC100631378', 'score': 11.43}, {'connected_gene': 'WDR87', 'score': 10.76}, {'connected_gene': 'ZNF383', 'score': 10.47}, {'connected_gene': 'LOC644554', 'score': 10.18}, {'connected_gene': 'ENSG00000267672', 'score': 10.02}, {'connected_gene': 'GGN', 'score': 8.57}, {'connected_gene': 'DPF1', 'score': 6.56}, {'connected_gene': 'SIPA1L3', 'score': 4.79}, {'connected_gene': 'LGALS4', 'score': 4.77}, {'connected_gene': 'LOC105372396', 'score': 0.44}, {'connected_gene': 'GC19M038858', 'score': 0.28}]
chr19 GH19I038919 38919383 38920899 1.17 [{'connected_gene': 'SUPT5H', 'score': 46.95}, {'connected_gene': 'FBL', 'score': 45.88}, {'connected_gene': 'HNRNPL', 'score': 43.41}, {'connected_gene': 'SARS2', 'score': 30.99}, {'connected_gene': 'PAF1', 'score': 30.15}, {'connected_gene': 'RPS16', 'score': 28.5}, {'connected_gene': 'ERVK9-11', 'score': 26.97}, {'connected_gene': 'ENSG00000269688', 'score': 22.09}, {'connected_gene': 'RN7SL566P', 'score': 19.52}, {'connected_gene': 'PAK4', 'score': 19.02}, {'connected_gene': 'SAMD4B', 'score': 18.9}, {'connected_gene': 'PLEKHG2', 'score': 12.89}, {'connected_gene': 'FBXO17', 'score': 11.97}, {'connected_gene': 'ACTN4', 'score': 10.14}, {'connected_gene': 'EID2B', 'score': 10.12}, {'connected_gene': 'DLL3', 'score': 10.1}, {'connected_gene': 'LGALS4', 'score': 4.4}, {'connected_gene': 'LGALS7', 'score': 1.66}, {'connected_gene': 'CCER2', 'score': 0.44}, {'connected_gene': 'MRPS12', 'score': 0.39}, {'connected_gene': 'ENSG00000269547', 'score': 0.31}]
chr19 GH19I038806 38806985 38809170 0.94 [{'connected_gene': 'LGALS7B', 'score': 18.32}, {'connected_gene': 'LGALS7', 'score': 16.29}, {'connected_gene': 'ZFP36', 'score': 10.96}, {'connected_gene': 'RPS16', 'score': 10.37}, {'connected_gene': 'ECH1', 'score': 5.73}, {'connected_gene': 'GC19P038813', 'score': 0.77}, {'connected_gene': 'LGALS4', 'score': 0.44}, {'connected_gene': 'GC19M038798', 'score': 0.39}, {'connected_gene': 'RNU6-140P', 'score': 0.39}]
chr19 GH19I038809 38809651 38810416 0.52 [{'connected_gene': 'LGALS7', 'score': 12.41}, {'connected_gene': 'HNRNPL', 'score': 4.87}, {'connected_gene': 'LGALS4', 'score': 0.77}, {'connected_gene': 'GC19P038813', 'score': 0.77}, {'connected_gene': 'GC19M038798', 'score': 0.39}, {'connected_gene': 'RNU6-140P', 'score': 0.39}]
chr19 GH19I039558 39557621 39559466 1.29 [{'connected_gene': 'PLEKHG2', 'score': 12.31}, {'connected_gene': 'EID2B', 'score': 11.25}, {'connected_gene': 'CLC', 'score': 10.8}, {'connected_gene': 'DLL3', 'score': 10.71}, {'connected_gene': 'LEUTX', 'score': 10.34}, {'connected_gene': 'MED29', 'score': 5.66}, {'connected_gene': 'LGALS4', 'score': 5.65}, {'connected_gene': 'RPS16', 'score': 4.52}, {'connected_gene': 'PAF1', 'score': 2.37}, {'connected_gene': 'ZFP36', 'score': 2.25}, {'connected_gene': 'EID2', 'score': 1.63}, {'connected_gene': 'LOC105372399', 'score': 0.39}, {'connected_gene': 'GC19P039533', 'score': 0.31}, {'connected_gene': 'ENSG00000269188', 'score': 0.31}]
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 GH19I038810 38810624 38821686 1.68 [{'connected_gene': 'LGALS4', 'score': 555.11}, {'connected_gene': 'ZNF573', 'score': 36.22}, {'connected_gene': 'HNRNPL', 'score': 35.77}, {'connected_gene': 'ENSG00000269688', 'score': 13.6}, {'connected_gene': 'LGALS7', 'score': 13.12}, {'connected_gene': 'EID2B', 'score': 12.42}, {'connected_gene': 'SUPT5H', 'score': 12.13}, {'connected_gene': 'RN7SL566P', 'score': 12.07}, {'connected_gene': 'LOC100631378', 'score': 11.36}, {'connected_gene': 'RINL', 'score': 11.18}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.81}, {'connected_gene': 'SAMD4B', 'score': 10.52}, {'connected_gene': 'PAF1', 'score': 10.26}, {'connected_gene': 'PAK4', 'score': 9.9}, {'connected_gene': 'FBXO17', 'score': 9.88}, {'connected_gene': 'ECH1', 'score': 5.68}, {'connected_gene': 'ACP7', 'score': 5.27}, {'connected_gene': 'ENSG00000269050', 'score': 4.83}, {'connected_gene': 'RNU6-140P', 'score': 4.79}, {'connected_gene': 'GC19P038813', 'score': 0.77}, {'connected_gene': 'ENSG00000268083', 'score': 0.34}]
chr19 GH19I039542 39542204 39544323 0.74 [{'connected_gene': 'HNRNPL', 'score': 12.2}, {'connected_gene': 'RPS16', 'score': 6.95}, {'connected_gene': 'LGALS4', 'score': 5.25}, {'connected_gene': 'EID2', 'score': 0.77}, {'connected_gene': 'LOC105372399', 'score': 0.77}, {'connected_gene': 'GC19P039533', 'score': 0.39}]
chr19 GH19I038846 38846884 38853492 2.35 [{'connected_gene': 'HNRNPL', 'score': 659.41}, {'connected_gene': 'FBL', 'score': 61.67}, {'connected_gene': 'ENSG00000269688', 'score': 31.64}, {'connected_gene': 'PLEKHG2', 'score': 31.13}, {'connected_gene': 'RN7SL566P', 'score': 30.56}, {'connected_gene': 'RPS16', 'score': 27.57}, {'connected_gene': 'PAK4', 'score': 24.03}, {'connected_gene': 'PAF1', 'score': 21.35}, {'connected_gene': 'SUPT5H', 'score': 20.51}, {'connected_gene': 'ENSG00000267892', 'score': 13.58}, {'connected_gene': 'EID2B', 'score': 13.55}, {'connected_gene': 'LOC100631378', 'score': 13.06}, {'connected_gene': 'LGALS7', 'score': 11.73}, {'connected_gene': 'ZFP36', 'score': 10.96}, {'connected_gene': 'ENSG00000268756', 'score': 10.34}, {'connected_gene': 'RINL', 'score': 10.22}, {'connected_gene': 'ACTN4', 'score': 10.16}, {'connected_gene': 'SAMD4B', 'score': 10.08}, {'connected_gene': 'FBXO17', 'score': 9.91}, {'connected_gene': 'LGALS4', 'score': 5.22}]
chr19 GH19I038829 38829045 38833605 2.33 [{'connected_gene': 'ECH1', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 35.02}, {'connected_gene': 'ENSG00000269688', 'score': 13.69}, {'connected_gene': 'LOC100631378', 'score': 12.11}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'LGALS7', 'score': 12.06}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.44}, {'connected_gene': 'LGALS7B', 'score': 6.74}, {'connected_gene': 'LRFN1', 'score': 5.21}, {'connected_gene': 'ENSG00000269050', 'score': 4.92}, {'connected_gene': 'LGALS4', 'score': 4.71}, {'connected_gene': 'PIR58999', 'score': 0.77}, {'connected_gene': 'ENSG00000268083', 'score': 0.44}]
chr19 GH19I039538 39538956 39540830 2.22 [{'connected_gene': 'EID2', 'score': 550.77}, {'connected_gene': 'LGALS4', 'score': 5.01}, {'connected_gene': 'RPS16', 'score': 4.49}, {'connected_gene': 'SERTAD3', 'score': 4.23}, {'connected_gene': 'GC19P039533', 'score': 0.44}, {'connected_gene': 'GC19P039535', 'score': 0.44}, {'connected_gene': 'TDGF1P7', 'score': 0.44}]
chr19 GH19I038876 38876690 38881600 1.8 [{'connected_gene': 'RINL', 'score': 556.01}, {'connected_gene': 'PAF1', 'score': 11.62}, {'connected_gene': 'SUPT5H', 'score': 10.8}, {'connected_gene': 'SAMD4B', 'score': 10.09}, {'connected_gene': 'LGALS7', 'score': 9.81}, {'connected_gene': 'LRFN1', 'score': 5.06}, {'connected_gene': 'LGALS4', 'score': 4.89}, {'connected_gene': 'FBXO17', 'score': 4.82}, {'connected_gene': 'ENSG00000267892', 'score': 4.07}, {'connected_gene': 'GC19M038871', 'score': 0.77}, {'connected_gene': 'SIRT2', 'score': 0.34}]
chr19 GH19I038847 38846221 38846370 0.51 [{'connected_gene': 'ENSG00000269688', 'score': 550.77}, {'connected_gene': 'LGALS4', 'score': 5.24}, {'connected_gene': 'HNRNPL', 'score': 0.44}]
chr19 GH19I038834 38834801 38844342 1.19 [{'connected_gene': 'ENSG00000268083', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 31.75}, {'connected_gene': 'PLEKHG2', 'score': 18.89}, {'connected_gene': 'ENSG00000267892', 'score': 17.49}, {'connected_gene': 'EID2B', 'score': 17.21}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'PAK4', 'score': 14.34}, {'connected_gene': 'RN7SL566P', 'score': 12.04}, {'connected_gene': 'LGALS7', 'score': 12.03}, {'connected_gene': 'DPF1', 'score': 12.01}, {'connected_gene': 'RPS16', 'score': 10.61}, {'connected_gene': 'ENSG00000269688', 'score': 10.52}, {'connected_gene': 'RINL', 'score': 10.33}, {'connected_gene': 'EID2', 'score': 10.08}, {'connected_gene': 'LGALS4', 'score': 5.28}, {'connected_gene': 'LGALS7B', 'score': 4.7}, {'connected_gene': 'ECH1', 'score': 0.44}]
chr19 GH19I038825 38825128 38828399 0.72 [{'connected_gene': 'PIR58999', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 24.75}, {'connected_gene': 'ENSG00000269688', 'score': 13.66}, {'connected_gene': 'RN7SL566P', 'score': 12.06}, {'connected_gene': 'LGALS7', 'score': 11.95}, {'connected_gene': 'PLEKHG2', 'score': 11.11}, {'connected_gene': 'ENSG00000268756', 'score': 10.48}, {'connected_gene': 'ENSG00000269050', 'score': 5.49}, {'connected_gene': 'LGALS4', 'score': 4.81}, {'connected_gene': 'ECH1', 'score': 0.44}, {'connected_gene': 'ENSG00000268083', 'score': 0.39}]
chr19 GH19I038805 38805301 38805600 1.02 [{'connected_gene': 'GC19M038798', 'score': 0.44}, {'connected_gene': 'RNU6-140P', 'score': 0.44}, {'connected_gene': 'LGALS4', 'score': 0.44}, {'connected_gene': 'GC19P038813', 'score': 0.44}]

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