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
ENST00000316673 [[42984339, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058311]] [[42984444, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058305]]
ENST00000609795 [[42984440, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053019]] [[42984444, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053019]]
ENST00000457232 [[42984440, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43058311]] [[42984444, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43058305]]
ENST00000609262 [[42984444, 42984493], [43019097, 43019319], [43034697, 43034872], [43036020, 43036114]] [[43019279, 43019319], [43034697, 43034872], [43036020, 43036114]]
ENST00000372920 [[43029909, 43030127], [43031193, 43031284], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43060026]] [[43030012, 43030127], [43031193, 43031284], [43034697, 43034815]]
ENST00000443598 [[43029923, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053279]] [[43030012, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053019]]
ENST00000316099 [[43029923, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43061485]] [[43030012, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058305]]
ENST00000415691 [[43029940, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43059140]] [[43030012, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43058305]]
NM_001030004 [[42984440, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053276]] [[42984444, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053019]]
NM_001287184 [[42984440, 42984493], [43019097, 43019319], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053276]] [[43019279, 43019319], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053019]]
NM_001030003 [[42984440, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43061485]] [[42984444, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43058305]]
NM_175914 [[42984440, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43061485]] [[42984444, 42984493], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058305]]
NM_001287182 [[42984440, 42984493], [43019097, 43019319], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43061485]] [[43019279, 43019319], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43058305]]
NM_001287183 [[42984440, 42984493], [43019097, 43019319], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43061485]] [[43019279, 43019319], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058305]]
NM_178850 [[43029895, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053276]] [[43030012, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43053019]]
NM_178849 [[43029895, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43061485]] [[43030012, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057097], [43058162, 43058305]]
NM_000457 [[43029895, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43061485]] [[43030012, 43030127], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058305]]
NM_001258355 [[43029895, 43030127], [43031193, 43031284], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43061485]] [[43030124, 43030127], [43031193, 43031284], [43034697, 43034872], [43036020, 43036115], [43042333, 43042440], [43043146, 43043302], [43047064, 43047152], [43048360, 43048516], [43052657, 43052894], [43056974, 43057127], [43058162, 43058305]]
Promoter
Chrom Start End Description
chr20 42984073 42984085 CAGE_peak_5_at_HNF4A_5end
chr20 42984330 42984364 CAGE_peak_2_at_HNF4A_5end
chr20 43029862 43029900 CAGE_peak_1_at_HNF4A_5end
chr20 43029911 43029912 CAGE_peak_6_at_HNF4A_5end
chr20 43029970 43029990 CAGE_peak_4_at_HNF4A_5end
chr20 43030002 43030028 CAGE_peak_3_at_HNF4A_5end
chr20 43030047 43030056 CAGE_peak_7_at_HNF4A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I044421 44421928 44437121 1.17 [{'connected_gene': 'HNF4A', 'score': 20.02}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'LOC105372629', 'score': 11.63}, {'connected_gene': 'FITM2', 'score': 11.43}, {'connected_gene': 'LINC01620', 'score': 11.28}, {'connected_gene': 'LINC01430', 'score': 11.28}, {'connected_gene': 'PKIG', 'score': 10.53}, {'connected_gene': 'MIR3646', 'score': 0.34}]
chr20 GH20I044397 44397855 44420654 1.96 [{'connected_gene': 'HNF4A', 'score': 558.71}, {'connected_gene': 'MIR3646', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'FITM2', 'score': 10.64}, {'connected_gene': 'LINC01620', 'score': 10.32}, {'connected_gene': 'LINC01430', 'score': 10.32}, {'connected_gene': 'SDC4', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 4.97}]
chr20 GH20I044467 44467235 44467510 0.89 [{'connected_gene': 'RPL37AP1', 'score': 550.77}, {'connected_gene': 'GC20M044467', 'score': 550.77}, {'connected_gene': 'PKIG', 'score': 10.18}, {'connected_gene': 'HNF4A', 'score': 4.66}, {'connected_gene': 'TTPAL', 'score': 2.51}, {'connected_gene': 'GC20P044473', 'score': 0.44}]
chr20 GH20I044384 44384376 44385646 1.08 [{'connected_gene': 'FITM2', 'score': 11.33}, {'connected_gene': 'LINC01620', 'score': 10.55}, {'connected_gene': 'LINC01430', 'score': 10.55}, {'connected_gene': 'IFT52', 'score': 10.12}, {'connected_gene': 'OSER1-AS1', 'score': 7.45}, {'connected_gene': 'OSER1', 'score': 4.77}, {'connected_gene': 'ENSG00000233376', 'score': 0.44}, {'connected_gene': 'HNF4A-AS1', 'score': 0.39}, {'connected_gene': 'LOC105372629', 'score': 0.31}, {'connected_gene': 'HNF4A', 'score': 0.31}]
chr20 GH20I044350 44350562 44358613 1.66 [{'connected_gene': 'LOC105372629', 'score': 561.32}, {'connected_gene': 'GC20P044356', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 57.31}, {'connected_gene': 'L3MBTL1', 'score': 12.78}, {'connected_gene': 'IFT52', 'score': 10.3}, {'connected_gene': 'OSER1', 'score': 7.84}, {'connected_gene': 'OSER1-AS1', 'score': 5.95}, {'connected_gene': 'MYBL2', 'score': 4.53}, {'connected_gene': 'ENSG00000201363', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20 GH20I044324 44324308 44324773 0.43 [{'connected_gene': 'LOC105372629', 'score': 12.18}, {'connected_gene': 'HNF4A', 'score': 12.18}, {'connected_gene': 'OSER1', 'score': 11.07}, {'connected_gene': 'FITM2', 'score': 0.39}, {'connected_gene': 'R3HDML', 'score': 0.39}]
chr20 GH20I044370 44370301 44371331 0.93 [{'connected_gene': 'LOC105372629', 'score': 5.72}, {'connected_gene': 'HNF4A', 'score': 0.37}, {'connected_gene': 'ENSG00000233376', 'score': 0.34}]
chr20 GH20I044392 44392335 44397190 1.64 [{'connected_gene': 'HNF4A-AS1', 'score': 550.77}, {'connected_gene': 'GC20P044393', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 14.36}, {'connected_gene': 'LINC01620', 'score': 10.53}, {'connected_gene': 'LINC01430', 'score': 10.53}, {'connected_gene': 'OSER1-AS1', 'score': 4.86}]
chr20 GH20I044420 44420819 44421640 0.31 [{'connected_gene': 'MIR3646', 'score': 0.39}, {'connected_gene': 'LINC01620', 'score': 0.26}, {'connected_gene': 'LINC01430', 'score': 0.26}, {'connected_gene': 'HNF4A', 'score': 0.2}]
chr20 GH20I044390 44390968 44391747 0.31 [{'connected_gene': 'ENSG00000233376', 'score': 550.77}, {'connected_gene': 'GC20P044393', 'score': 550.77}, {'connected_gene': 'LINC01620', 'score': 11.24}, {'connected_gene': 'LINC01430', 'score': 11.24}, {'connected_gene': 'HNF4A-AS1', 'score': 0.77}, {'connected_gene': 'LOC105372629', 'score': 0.28}, {'connected_gene': 'HNF4A', 'score': 0.28}]
chr20 GH20I044388 44388191 44389250 1.33 [{'connected_gene': 'ENSG00000233376', 'score': 0.77}, {'connected_gene': 'HNF4A-AS1', 'score': 0.44}, {'connected_gene': 'LOC105372629', 'score': 0.29}, {'connected_gene': 'HNF4A', 'score': 0.29}]

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